#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
MIB2	142678	broad.mit.edu	37	1	1551937	1551937	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:1551937C>T	ENST00000357210.4	+	2	269	c.53C>T	c.(52-54)tCa>tTa	p.S18L	MIB2_ENST00000378712.1_5'UTR|MIB2_ENST00000360522.4_Missense_Mutation_p.S18L|MIB2_ENST00000520777.1_Missense_Mutation_p.S75L|MIB2_ENST00000504599.1_5'UTR|MIB2_ENST00000378710.3_Missense_Mutation_p.S18L|MIB2_ENST00000505820.2_Missense_Mutation_p.S75L|RP11-345P4.9_ENST00000607222.1_RNA|MIB2_ENST00000355826.5_Missense_Mutation_p.S75L|MIB2_ENST00000518681.1_Missense_Mutation_p.S75L|MIB2_ENST00000378708.1_5'Flank	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	18					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TTCCAGGCATCAGGGCTGCAG	0.652																																						uc001agg.2		NaN																	0					0						c.(52-54)TCA>TTA		mindbomb homolog 2							20.0	25.0	24.0					1																	1551937		1890	4120	6010	SO:0001583	missense	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1551937C>T	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.53C>T	1.37:g.1551937C>T	ENSP00000349741:p.Ser18Leu					MIB2_uc001agh.2_Missense_Mutation_p.S18L|MIB2_uc001agi.2_Missense_Mutation_p.S18L|MIB2_uc001agj.2_5'UTR|MIB2_uc001agk.2_Missense_Mutation_p.S18L|MIB2_uc001agl.1_5'UTR|MIB2_uc001agm.2_5'UTR|MIB2_uc010nyq.1_5'UTR	p.S18L	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	2	180	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	18					A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	ENST00000357210.4	37	c.53C>T		.	.	.	.	.	.	.	.	.	.	c	13.52	2.262816	0.39995	.	.	ENSG00000197530	ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000518681;ENST00000505820	T;T;T;T;T;T;T	0.38560	1.34;1.39;1.37;1.37;1.13;1.33;1.34	2.73	1.79	0.24919	.	1.026630	0.07968	U	0.983520	T	0.22166	0.0534	N	0.08118	0	0.09310	N	1	B;B;B;B	0.09022	0.001;0.001;0.002;0.001	B;B;B;B	0.09377	0.003;0.003;0.004;0.003	T	0.16335	-1.0406	10	0.66056	D	0.02	.	4.821	0.13390	0.0:0.8231:0.0:0.1769	.	75;75;18;18	E9PHQ1;E9PGU1;Q96AX9-2;Q96AX9	.;.;.;MIB2_HUMAN	L	75;18;18;18;75;75;75	ENSP00000428660:S75L;ENSP00000349741:S18L;ENSP00000353713:S18L;ENSP00000367982:S18L;ENSP00000348081:S75L;ENSP00000428264:S75L;ENSP00000426103:S75L	ENSP00000348081:S75L	S	+	2	0	MIB2	1541800	0.043000	0.20138	0.353000	0.25747	0.125000	0.20455	1.342000	0.33919	1.546000	0.49388	0.306000	0.20318	TCA		0.652	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_080875		13	27	0	0	0	1	0	13	27		
CFAP74	85452	broad.mit.edu	37	1	1903481	1903481	+	IGR	SNP	C	C	T	rs200938710		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:1903481C>T								TMEM52 (52769 upstream) : C1orf222 (16081 downstream)																							CTCATGTACTCGTGGCACTCC	0.607													c|||	1	0.000199681	0.0	0.0	5008	,	,		20230	0.001		0.0	False		,,,				2504	0.0					uc001aim.1		NaN																	0				pancreas(1)	1						c.(826-828)GAG>AAG		hypothetical protein LOC85452			LYS/GLU	0,4324		0,0,2162	98.0	112.0	107.0		826	-0.4	0.0	1		107	1,8503		0,1,4251	no	missense	KIAA1751	NM_001080484.1	56	0,1,6413	TT,TC,CC		0.0118,0.0,0.0078	benign	276/763	1903481	1,12827	2162	4252	6414	SO:0001628	intergenic_variant	85452							g.chr1:1903481C>T																													1.37:g.1903481C>T						KIAA1751_uc009vkz.1_Missense_Mutation_p.E276K	p.E276K	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	9	982	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	276						Missense_Mutation	SNP		37	c.826G>A		.	.	.	.	.	.	.	.	.	.	c	10.44	1.351105	0.24512	0.0	1.18E-4	ENSG00000142609	ENST00000270720	.	.	.	2.78	-0.369	0.12534	.	0.439011	0.21140	N	0.079490	T	0.18257	0.0438	L	0.34521	1.04	0.09310	N	1	P;B	0.36125	0.538;0.366	B;B	0.32211	0.142;0.046	T	0.14671	-1.0464	9	0.20519	T	0.43	-10.57	4.2126	0.10519	0.0:0.5491:0.1937:0.2572	.	276;276	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	K	276	.	ENSP00000270720:E276K	E	-	1	0	C1orf222	1893341	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.258000	0.18387	-0.073000	0.12842	-0.389000	0.06534	GAG	0	0.607										46	106	0	0	0	1	0	46	106		
PRDM16	63976	broad.mit.edu	37	1	3348546	3348546	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:3348546G>T	ENST00000270722.5	+	16	3587	c.3538G>T	c.(3538-3540)Gaa>Taa	p.E1180*	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Nonsense_Mutation_p.E1180*|PRDM16_ENST00000442529.2_Nonsense_Mutation_p.E1179*|PRDM16_ENST00000514189.1_Intron|PRDM16_ENST00000378398.3_Nonsense_Mutation_p.E1180*|PRDM16_ENST00000441472.2_Nonsense_Mutation_p.E1179*|PRDM16_ENST00000511072.1_Intron			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1180	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TGAGGACCACGAAGGCGGTCT	0.592			T	EVI1	"""MDS, AML"""																																	uc001akf.2		NaN		Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		MDS|AML		0				lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(3538-3540)GAA>TAA		PR domain containing 16 isoform 1							74.0	82.0	80.0					1																	3348546		2047	4202	6249	SO:0001587	stop_gained	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3348546G>T	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.3538G>T	1.37:g.3348546G>T	ENSP00000270722:p.Glu1180*					PRDM16_uc001akc.2_Nonsense_Mutation_p.E1179*|PRDM16_uc001akd.2_Nonsense_Mutation_p.E1179*|PRDM16_uc001ake.2_Nonsense_Mutation_p.E1180*|PRDM16_uc009vlh.2_Nonsense_Mutation_p.E880*	p.E1180*	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	16	3618	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	1180			Mediates interaction with SKI and regulation of TGF-beta signaling.		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Nonsense_Mutation	SNP	ENST00000270722.5	37	c.3538G>T	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	G	40	7.952150	0.98580	.	.	ENSG00000142611	ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	.	.	.	5.11	4.19	0.49359	.	0.847591	0.09627	U	0.776702	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	14.2205	0.65823	0.0:0.1962:0.8038:0.0	.	.	.	.	X	1180;1179;1179;1180;1180;996;996;988	.	ENSP00000270722:E1180X	E	+	1	0	PRDM16	3338406	1.000000	0.71417	0.360000	0.25837	0.490000	0.33462	5.094000	0.64523	1.145000	0.42336	0.585000	0.79938	GAA		0.592	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3		NM_022114		16	69	1	0	4.96729e-08	1	5.15295e-08	16	69		
CCDC27	148870	broad.mit.edu	37	1	3679963	3679963	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:3679963G>C	ENST00000294600.2	+	7	1330	c.1246G>C	c.(1246-1248)Gag>Cag	p.E416Q		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	416	Glu-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GGCCCAGCTGGAGGAGTACGA	0.637																																						uc001akv.2		NaN																	0				skin(1)	1						c.(1246-1248)GAG>CAG		coiled-coil domain containing 27							63.0	65.0	64.0					1																	3679963		2203	4300	6503	SO:0001583	missense	148870							g.chr1:3679963G>C		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1246G>C	1.37:g.3679963G>C	ENSP00000294600:p.Glu416Gln						p.E416Q	NM_152492	NP_689705	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	7	1327	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	416			Glu-rich.		Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	c.1246G>C	CCDS50.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144887	0.57044	.	.	ENSG00000162592	ENST00000294600	T	0.20881	2.04	4.34	3.32	0.38043	.	0.393095	0.22188	N	0.063406	T	0.24314	0.0589	L	0.36672	1.1	0.23376	N	0.9978	P	0.50943	0.94	P	0.53450	0.726	T	0.02813	-1.1107	10	0.37606	T	0.19	-31.1314	9.4237	0.38567	0.0:0.2177:0.7823:0.0	.	416	Q2M243	CCD27_HUMAN	Q	416	ENSP00000294600:E416Q	ENSP00000294600:E416Q	E	+	1	0	CCDC27	3669823	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	1.035000	0.30216	2.356000	0.79943	0.462000	0.41574	GAG		0.637	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1		NM_152492		30	71	0	0	0	1	0	30	71		
DNAJC11	55735	broad.mit.edu	37	1	6727843	6727843	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:6727843C>T	ENST00000377577.5	-	4	427	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	DNAJC11_ENST00000542246.1_Missense_Mutation_p.E64K|DNAJC11_ENST00000377573.5_Missense_Mutation_p.E12K|DNAJC11_ENST00000349363.6_Missense_Mutation_p.E64K|DNAJC11_ENST00000294401.7_Missense_Mutation_p.E102K	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	102						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				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)		TCTCGAATTTCAGCAGGGGTT	0.522																																						uc001aof.2		NaN																	0				ovary(1)|skin(1)	2						c.(304-306)GAA>AAA		DnaJ (Hsp40) homolog, subfamily C, member 11							65.0	62.0	63.0					1																	6727843		2203	4300	6503	SO:0001583	missense	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6727843C>T	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.304G>A	1.37:g.6727843C>T	ENSP00000366800:p.Glu102Lys					DNAJC11_uc010nzt.1_Missense_Mutation_p.E64K|DNAJC11_uc001aog.2_Missense_Mutation_p.E102K|DNAJC11_uc010nzu.1_Missense_Mutation_p.E12K	p.E102K	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)	4	410	-	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)	102					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	ENST00000377577.5	37	c.304G>A	CCDS87.1	.	.	.	.	.	.	.	.	.	.	c	36	5.808010	0.96967	.	.	ENSG00000007923	ENST00000377577;ENST00000451196;ENST00000349363;ENST00000294401;ENST00000542246;ENST00000377573;ENST00000426784	T;T;T;T;T;T;T	0.49720	2.18;1.56;0.77;2.19;1.49;0.95;2.25	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.73621	0.3610	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.994;0.996;0.999	T	0.76329	-0.2999	10	0.59425	D	0.04	-23.6626	18.8701	0.92309	0.0:1.0:0.0:0.0	.	12;78;102;102	B4DGD5;Q5TH61;Q9NVH1-3;Q9NVH1	.;.;.;DJC11_HUMAN	K	102;78;64;102;64;12;102	ENSP00000366800:E102K;ENSP00000415871:E78K;ENSP00000326304:E64K;ENSP00000294401:E102K;ENSP00000444020:E64K;ENSP00000366796:E12K;ENSP00000410194:E102K	ENSP00000294401:E102K	E	-	1	0	DNAJC11	6650430	1.000000	0.71417	0.922000	0.36590	0.960000	0.62799	7.090000	0.76916	2.687000	0.91594	0.651000	0.88453	GAA		0.522	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3		NM_018198		17	45	0	0	0	1	0	17	45		
SLC45A1	50651	broad.mit.edu	37	1	8399747	8399747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:8399747C>T	ENST00000471889.1	+	8	2354	c.1969C>T	c.(1969-1971)Cag>Tag	p.Q657*	SLC45A1_ENST00000377479.2_Nonsense_Mutation_p.Q691*|SLC45A1_ENST00000289877.8_Nonsense_Mutation_p.Q657*			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	657					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CGATTACTATCAGAGTAAGAA	0.527																																						uc001apb.2		NaN																	0				central_nervous_system(2)|pancreas(1)|skin(1)	4						c.(1969-1971)CAG>TAG		DNB5							150.0	141.0	144.0					1																	8399747		2203	4300	6503	SO:0001587	stop_gained	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8399747C>T	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1969C>T	1.37:g.8399747C>T	ENSP00000418096:p.Gln657*					SLC45A1_uc001apc.2_Nonsense_Mutation_p.Q355*	p.Q657*	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	7	1969	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	657					Q5VY46|Q5VY49	Nonsense_Mutation	SNP	ENST00000471889.1	37	c.1969C>T	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	C	36	5.800942	0.96960	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	.	.	.	5.0	5.0	0.66597	.	0.056851	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-17.698	17.2983	0.87175	0.0:1.0:0.0:0.0	.	.	.	.	X	657;691;657	.	ENSP00000289877:Q657X	Q	+	1	0	SLC45A1	8322334	1.000000	0.71417	1.000000	0.80357	0.467000	0.32768	7.367000	0.79558	2.296000	0.77279	0.555000	0.69702	CAG		0.527	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5				44	148	0	0	0	1	0	44	148		
PGD	5226	broad.mit.edu	37	1	10479590	10479590	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:10479590C>T	ENST00000270776.8	+	12	1364	c.1326C>T	c.(1324-1326)ctC>ctT	p.L442L	PGD_ENST00000541529.1_Silent_p.L420L|PGD_ENST00000538557.1_Silent_p.L429L|PGD_ENST00000498356.1_3'UTR	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	442					carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	CAGCCAGCCTCATCCAGGTAA	0.592																																						uc001arc.2		NaN																	0				ovary(1)	1						c.(1324-1326)CTC>CTT		phosphogluconate dehydrogenase							84.0	82.0	83.0					1																	10479590		2203	4300	6503	SO:0001819	synonymous_variant	5226				pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding	g.chr1:10479590C>T	BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.1326C>T	1.37:g.10479590C>T						PGD_uc001ard.2_Silent_p.L362L|PGD_uc010oak.1_Silent_p.L420L|PGD_uc010oal.1_Silent_p.L429L	p.L442L	NM_002631	NP_002622	P52209	6PGD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	12	1416	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	442					A8K2Y9|B4DQJ8|Q9BWD8	Silent	SNP	ENST00000270776.8	37	c.1326C>T	CCDS113.1																																																																																				0.592	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005398.1		NM_002631		36	141	0	0	0	1	0	36	141		
DRAXIN	374946	broad.mit.edu	37	1	11772015	11772015	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:11772015G>C	ENST00000294485.5	+	4	885	c.750G>C	c.(748-750)aaG>aaC	p.K250N		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		CCTCTGCAAAGAAGAAAGGTA	0.582																																						uc001asr.1		NaN																	0					0						c.(748-750)AAG>AAC		chromosome 1 open reading frame 187 precursor							84.0	56.0	66.0					1																	11772015		2203	4300	6503	SO:0001583	missense	374946				axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region		g.chr1:11772015G>C	AY358750	CCDS135.1	1p36.22	2012-08-20	2012-08-14	2012-08-14	ENSG00000162490	ENSG00000162490			25054	protein-coding gene	gene with protein product	"""dorsal repulsive axon guidance protein"", ""neural tissue-specific cysteine-rich protein"""	612682	"""chromosome 1 open reading frame 187"""	C1orf187		19150847	Standard	NM_198545		Approved	FLJ34999, Draxin, Neucrin	uc001asr.1	Q8NBI3	OTTHUMG00000002227	ENST00000294485.5:c.750G>C	1.37:g.11772015G>C	ENSP00000294485:p.Lys250Asn						p.K250N	NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)	4	890	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	250						Missense_Mutation	SNP	ENST00000294485.5	37	c.750G>C	CCDS135.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438891	0.43326	.	.	ENSG00000162490	ENST00000294485	T	0.57907	0.37	5.7	3.73	0.42828	.	0.184563	0.47455	D	0.000234	T	0.57710	0.2072	M	0.70275	2.135	0.50467	D	0.999871	P	0.49783	0.928	P	0.50659	0.647	T	0.58567	-0.7614	10	0.72032	D	0.01	-19.1499	7.0179	0.24899	0.3764:0.0:0.6236:0.0	.	250	Q8NBI3	DRAXI_HUMAN	N	250	ENSP00000294485:K250N	ENSP00000294485:K250N	K	+	3	2	C1orf187	11694602	1.000000	0.71417	0.952000	0.39060	0.313000	0.28021	1.456000	0.35201	0.663000	0.31027	0.655000	0.94253	AAG		0.582	DRAXIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006325.1		NM_198545		7	16	0	0	0	1	0	7	16		
VPS13D	55187	broad.mit.edu	37	1	12343399	12343399	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:12343399G>A	ENST00000358136.3	+	21	5370	c.5240G>A	c.(5239-5241)cGg>cAg	p.R1747Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.R1747Q	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCTGCGTCCCGGAAAAAGCAA	0.478																																						uc001atv.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(5239-5241)CGG>CAG		vacuolar protein sorting 13D isoform 1							86.0	72.0	77.0					1																	12343399		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12343399G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.5240G>A	1.37:g.12343399G>A	ENSP00000350854:p.Arg1747Gln					VPS13D_uc001atw.2_Missense_Mutation_p.R1747Q|VPS13D_uc001atx.2_Missense_Mutation_p.R935Q	p.R1747Q	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	21	5381	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	1747						Missense_Mutation	SNP	ENST00000358136.3	37	c.5240G>A	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.99|12.99	2.103813|2.103813	0.37145|0.37145	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.51817	.|0.69;0.69	5.78|5.78	3.91|3.91	0.45181|0.45181	.|.	.|0.277920	.|0.35936	.|N	.|0.002899	T|T	0.34193|0.34193	0.0889|0.0889	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|B;B	.|0.31459	.|0.324;0.217	.|B;B	.|0.22152	.|0.038;0.017	T|T	0.07539|0.07539	-1.0767|-1.0767	5|10	.|0.12430	.|T	.|0.62	.|.	10.4749|10.4749	0.44659|0.44659	0.2085:0.0:0.7915:0.0|0.2085:0.0:0.7915:0.0	.|.	.|1747;1747	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	R|Q	570|1747	.|ENSP00000348666:R1747Q;ENSP00000350854:R1747Q	.|ENSP00000348666:R1747Q	G|R	+|+	1|2	0|0	VPS13D|VPS13D	12265986|12265986	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	1.539000|1.539000	0.36104|0.36104	0.788000|0.788000	0.33755|0.33755	0.561000|0.561000	0.74099|0.74099	GGA|CGG		0.478	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		NM_015378		14	44	0	0	0	1	0	14	44		
VPS13D	55187	broad.mit.edu	37	1	12516150	12516150	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:12516150G>A	ENST00000358136.3	+	66	12560	c.12430G>A	c.(12430-12432)Gaa>Aaa	p.E4144K	VPS13D_ENST00000496628.1_Intron|VPS13D_ENST00000543766.1_Missense_Mutation_p.E142K|VPS13D_ENST00000356315.4_Missense_Mutation_p.E4119K	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CACAAGTGGTGAACACCTTGT	0.527																																						uc001atv.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(12430-12432)GAA>AAA		vacuolar protein sorting 13D isoform 1							106.0	78.0	87.0					1																	12516150		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12516150G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.12430G>A	1.37:g.12516150G>A	ENSP00000350854:p.Glu4144Lys					VPS13D_uc001atw.2_Missense_Mutation_p.E4119K|VPS13D_uc001atx.2_Missense_Mutation_p.E3331K|VPS13D_uc009vnl.2_Intron|VPS13D_uc010obd.1_Missense_Mutation_p.E142K	p.E4144K	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	66	12571	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	4143						Missense_Mutation	SNP	ENST00000358136.3	37	c.12430G>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	37	6.156339	0.97334	.	.	ENSG00000048707	ENST00000356315;ENST00000358136;ENST00000543766	T;T;T	0.78126	0.57;0.56;-1.15	5.84	5.84	0.93424	.	0.089879	0.85682	D	0.000000	D	0.84433	0.5471	L	0.47716	1.5	0.80722	D	1	P;D;D	0.61697	0.916;0.988;0.99	P;P;P	0.61940	0.514;0.896;0.852	D	0.83875	0.0276	10	0.52906	T	0.07	.	20.1454	0.98074	0.0:0.0:1.0:0.0	.	142;4119;4143	F5GX56;Q5THJ4-2;Q5THJ4	.;.;VP13D_HUMAN	K	4119;4144;142	ENSP00000348666:E4119K;ENSP00000350854:E4144K;ENSP00000441122:E142K	ENSP00000348666:E4119K	E	+	1	0	VPS13D	12438737	1.000000	0.71417	0.918000	0.36340	0.957000	0.61999	9.434000	0.97515	2.748000	0.94277	0.650000	0.86243	GAA		0.527	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		NM_015378		18	77	0	0	0	1	0	18	77		
PRDM2	7799	broad.mit.edu	37	1	14107448	14107448	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:14107448C>T	ENST00000235372.7	+	8	4014	c.3158C>T	c.(3157-3159)tCt>tTt	p.S1053F	PRDM2_ENST00000343137.4_Missense_Mutation_p.S852F|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.S1053F|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.S852F	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1053	Poly-Ser.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ACACTttcttcttcctcctct	0.542																																						uc001avi.2		NaN																	0				ovary(1)	1						c.(3157-3159)TCT>TTT		retinoblastoma protein-binding zinc finger							62.0	52.0	55.0					1																	14107448		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14107448C>T	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.3158C>T	1.37:g.14107448C>T	ENSP00000235372:p.Ser1053Phe					PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.S1053F|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.S852F|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	p.S1053F	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	4014	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1053			Poly-Ser.		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.3158C>T	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	9.416	1.081886	0.20309	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01918	4.69;4.56;4.58;4.58	5.25	5.25	0.73442	.	0.424191	0.26844	N	0.022211	T	0.11793	0.0287	M	0.69823	2.125	0.53688	D	0.99997	D;D;D	0.71674	0.998;0.994;0.997	P;P;D	0.66979	0.879;0.888;0.948	T	0.00236	-1.1891	10	0.66056	D	0.02	.	17.4015	0.87461	0.0:1.0:0.0:0.0	.	911;1053;1053	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	F	1053;1053;1053;852;852	ENSP00000235372:S1053F;ENSP00000312352:S1053F;ENSP00000411103:S852F;ENSP00000341621:S852F	ENSP00000235372:S1053F	S	+	2	0	PRDM2	13980035	0.110000	0.22057	0.316000	0.25252	0.193000	0.23685	2.422000	0.44696	2.474000	0.83562	0.655000	0.94253	TCT		0.542	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2		NM_012231		21	68	0	0	0	1	0	21	68		
PRDM2	7799	broad.mit.edu	37	1	14107484	14107484	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:14107484C>G	ENST00000235372.7	+	8	4050	c.3194C>G	c.(3193-3195)tCt>tGt	p.S1065C	PRDM2_ENST00000343137.4_Missense_Mutation_p.S864C|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.S1065C|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.S864C	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1065	Poly-Ser.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		tcttcgttttcttcttcatct	0.522																																						uc001avi.2		NaN																	0				ovary(1)	1						c.(3193-3195)TCT>TGT		retinoblastoma protein-binding zinc finger							53.0	42.0	46.0					1																	14107484		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14107484C>G	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.3194C>G	1.37:g.14107484C>G	ENSP00000235372:p.Ser1065Cys					PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.S1065C|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.S864C|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	p.S1065C	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	4050	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1065			Poly-Ser.		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.3194C>G	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507214	0.27036	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01887	4.67;4.58;4.58;4.58	5.88	5.88	0.94601	.	0.475891	0.22892	N	0.054379	T	0.10723	0.0262	M	0.63428	1.95	0.40763	D	0.983022	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.01748	-1.1282	10	0.39692	T	0.17	.	15.2189	0.73296	0.0:0.8588:0.1412:0.0	.	923;1065;1065	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	C	1065;1065;1065;864;864	ENSP00000235372:S1065C;ENSP00000312352:S1065C;ENSP00000411103:S864C;ENSP00000341621:S864C	ENSP00000235372:S1065C	S	+	2	0	PRDM2	13980071	0.269000	0.24143	0.951000	0.38953	0.635000	0.38103	1.803000	0.38863	2.790000	0.95986	0.591000	0.81541	TCT		0.522	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2		NM_012231		21	48	0	0	0	1	0	21	48		
CASP9	842	broad.mit.edu	37	1	15844829	15844829	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:15844829C>T	ENST00000333868.5	-	2	288	c.194G>A	c.(193-195)cGa>cAa	p.R65Q	CASP9_ENST00000348549.5_Missense_Mutation_p.R65Q|CASP9_ENST00000546424.1_Missense_Mutation_p.R65Q|CASP9_ENST00000469637.1_5'UTR|CASP9_ENST00000375890.4_5'UTR	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	65	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770)	apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)	p.R65P(1)|p.R65L(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		CTGACTCCCTCGAGTCTCCAG	0.527																																						uc001awn.2		NaN																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|kidney(1)	2						c.(193-195)CGA>CAA		caspase 9 isoform alpha preproprotein							74.0	72.0	73.0					1																	15844829		2203	4300	6503	SO:0001583	missense	842				activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding	g.chr1:15844829C>T	U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 56"""	602234	"""caspase 9, apoptosis-related cysteine protease"""			8663294, 9390557	Standard	NM_001229		Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000333868.5:c.194G>A	1.37:g.15844829C>T	ENSP00000330237:p.Arg65Gln					CASP9_uc001awm.1_Missense_Mutation_p.R65Q|CASP9_uc001awo.2_Missense_Mutation_p.R65Q|CASP9_uc001awp.2_5'UTR|CASP9_uc009voi.2_5'UTR|CASP9_uc010obm.1_5'UTR|CASP9_uc001awq.2_5'UTR	p.R65Q	NM_001229	NP_001220	P55211	CASP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)	2	289	-		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	65			CARD.		B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	Missense_Mutation	SNP	ENST00000333868.5	37	c.194G>A	CCDS158.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340383	0.81911	.	.	ENSG00000132906	ENST00000546424;ENST00000333868;ENST00000348549;ENST00000440484	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.59	5.59	0.84812	DEATH-like (2);Caspase Recruitment (3);	0.158033	0.47455	D	0.000225	T	0.72684	0.3491	M	0.86740	2.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	T	0.77213	-0.2670	10	0.72032	D	0.01	.	15.0955	0.72232	0.0:1.0:0.0:0.0	.	65;65;65	P55211-2;P55211;F8VVS7	.;CASP9_HUMAN;.	Q	65	ENSP00000449584:R65Q;ENSP00000330237:R65Q;ENSP00000255256:R65Q;ENSP00000411304:R65Q	ENSP00000330237:R65Q	R	-	2	0	CASP9	15717416	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	4.876000	0.63079	2.635000	0.89317	0.563000	0.77884	CGA		0.527	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006438.1		NM_032996		25	80	0	0	0	1	0	25	80		
TMEM82	388595	broad.mit.edu	37	1	16073402	16073402	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:16073402G>A	ENST00000375782.1	+	5	936	c.798G>A	c.(796-798)caG>caA	p.Q266Q	RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	266	Leu-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAGGTGCAGACGGTGCTGG	0.682																																						uc001axc.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(796-798)CAG>CAA		transmembrane protein 82							46.0	40.0	42.0					1																	16073402		2203	4300	6503	SO:0001819	synonymous_variant	388595					integral to membrane		g.chr1:16073402G>A		CCDS30608.1	1p36.13	2008-02-05				ENSG00000162460			32350	protein-coding gene	gene with protein product							Standard	NM_001013641		Approved		uc001axc.4	A0PJX8		ENST00000375782.1:c.798G>A	1.37:g.16073402G>A							p.Q266Q	NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	5	936	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	266			Leu-rich.|Helical; (Potential).		B2RP27|Q5VVD4	Silent	SNP	ENST00000375782.1	37	c.798G>A	CCDS30608.1																																																																																				0.682	TMEM82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008471.2		NM_001013641		6	24	0	0	0	1	0	6	24		
CLCNKB	1188	broad.mit.edu	37	1	16382217	16382217	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:16382217G>A	ENST00000375679.4	+	18	2004	c.1893G>A	c.(1891-1893)gtG>gtA	p.V631V	CLCNKB_ENST00000375667.3_Silent_p.V461V|FAM131C_ENST00000494078.1_5'Flank	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	631	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CAGAACCAGTGACCCTGAAGC	0.617																																						uc001axw.3		NaN																	0				skin(1)	1						c.(1891-1893)GTG>GTA		chloride channel Kb isoform 1							76.0	73.0	74.0					1																	16382217		2203	4300	6503	SO:0001819	synonymous_variant	1188				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16382217G>A	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1893G>A	1.37:g.16382217G>A						FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Silent_p.V631V|CLCNKB_uc001axy.3_Silent_p.V461V	p.V631V	NM_000085	NP_000076	P51801	CLCKB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	18	1973	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	631			CBS 2.		B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	c.1893G>A	CCDS168.1																																																																																				0.617	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1		NM_000085		19	100	0	0	0	1	0	19	100		
ARHGEF19	128272	broad.mit.edu	37	1	16534235	16534235	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:16534235C>T	ENST00000270747.3	-	4	868	c.732G>A	c.(730-732)atG>atA	p.M244I	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	244					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCCCCGCTCATCTCTACAC	0.672																																						uc001ayc.1		NaN																	0				skin(2)|ovary(1)	3						c.(730-732)ATG>ATA		Rho guanine nucleotide exchange factor (GEF) 19							50.0	53.0	52.0					1																	16534235		2203	4299	6502	SO:0001583	missense	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16534235C>T	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.732G>A	1.37:g.16534235C>T	ENSP00000270747:p.Met244Ile					ARHGEF19_uc009voo.1_5'Flank|ARHGEF19_uc001ayb.1_5'Flank	p.M244I	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	4	869	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	244					A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	ENST00000270747.3	37	c.732G>A	CCDS170.1	.	.	.	.	.	.	.	.	.	.	C	9.048	0.991286	0.18966	.	.	ENSG00000142632	ENST00000270747;ENST00000421561;ENST00000375607	T;T	0.69175	-0.38;2.0	4.82	1.81	0.25067	.	2.392390	0.01501	N	0.017493	T	0.58018	0.2093	L	0.36672	1.1	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.40869	-0.9540	10	0.36615	T	0.2	.	6.8651	0.24088	0.0:0.7104:0.0:0.2896	.	244	Q8IW93	ARHGJ_HUMAN	I	244	ENSP00000270747:M244I;ENSP00000396001:M244I	ENSP00000270747:M244I	M	-	3	0	ARHGEF19	16406822	0.019000	0.18553	0.001000	0.08648	0.002000	0.02628	0.916000	0.28651	0.987000	0.38709	0.561000	0.74099	ATG		0.672	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1		NM_153213		21	77	0	0	0	1	0	21	77		
ATP13A2	23400	broad.mit.edu	37	1	17328531	17328531	+	Missense_Mutation	SNP	C	C	T	rs540184864		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:17328531C>T	ENST00000326735.8	-	8	736	c.703G>A	c.(703-705)Gag>Aag	p.E235K	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000502860.1_5'Flank|ATP13A2_ENST00000452699.1_Missense_Mutation_p.E230K|ATP13A2_ENST00000341676.5_Missense_Mutation_p.E230K			Q9NQ11	AT132_HUMAN	ATPase type 13A2	235					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGCCCTACCTCGTCCACCAGC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		19186	0.0		0.0	False		,,,				2504	0.001					uc001baa.2		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(703-705)GAG>AAG		ATPase type 13A2 isoform 1							61.0	55.0	57.0					1																	17328531		2203	4300	6503	SO:0001583	missense	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17328531C>T	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.703G>A	1.37:g.17328531C>T	ENSP00000327214:p.Glu235Lys					ATP13A2_uc001bab.2_Missense_Mutation_p.E230K|ATP13A2_uc001bac.2_Missense_Mutation_p.E230K|ATP13A2_uc009vpa.1_5'Flank|ATP13A2_uc001bad.1_5'Flank	p.E235K	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	8	893	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	235			Helical; (Potential).		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	c.703G>A	CCDS175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.964585|3.964585	0.74131|0.74131	.|.	.|.	ENSG00000159363|ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000511957|ENST00000510069;ENST00000508222	D;D;D;D|.	0.89270|.	-2.49;-2.49;-2.49;-2.49|.	4.5|4.5	4.5|4.5	0.54988|0.54988	ATPase, P-type cation-transporter, N-terminal (1);ATPase,  P-type, cytoplasmic transduction domain A (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84311|0.84311	0.5444|0.5444	M|M	0.93016|0.93016	3.37|3.37	0.80722|0.80722	D|D	1|1	P;B;P|.	0.52170|.	0.951;0.1;0.913|.	B;B;B|.	0.43413|.	0.299;0.018;0.419|.	D|D	0.88240|0.88240	0.2909|0.2909	10|5	0.59425|.	D|.	0.04|.	-34.1786|-34.1786	14.0504|14.0504	0.64732|0.64732	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	230;230;235|.	Q5JXY1;Q6S9Z9;Q9NQ11|.	.;.;AT132_HUMAN|.	K|Q	235;230;230;139|209;141	ENSP00000327214:E235K;ENSP00000341115:E230K;ENSP00000413307:E230K;ENSP00000427241:E139K|.	ENSP00000327214:E235K|.	E|R	-|-	1|2	0|0	ATP13A2|ATP13A2	17201118|17201118	1.000000|1.000000	0.71417|0.71417	0.955000|0.955000	0.39395|0.39395	0.722000|0.722000	0.41435|0.41435	5.555000|5.555000	0.67301|0.67301	2.359000|2.359000	0.80004|0.80004	0.561000|0.561000	0.74099|0.74099	GAG|CGA		0.627	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1		NM_022089		11	24	0	0	0	1	0	11	24		
IGSF21	84966	broad.mit.edu	37	1	18661423	18661423	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:18661423G>T	ENST00000251296.1	+	4	726	c.343G>T	c.(343-345)Gag>Tag	p.E115*		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	115	Ig-like 1.					extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		TGGTCCCTATGAGTGCCATGT	0.622																																						uc001bau.1		NaN																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(343-345)GAG>TAG		immunoglobin superfamily, member 21 precursor							95.0	74.0	81.0					1																	18661423		2203	4300	6503	SO:0001587	stop_gained	84966					extracellular region		g.chr1:18661423G>T	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.343G>T	1.37:g.18661423G>T	ENSP00000251296:p.Glu115*						p.E115*	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	4	726	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	115			Ig-like 1.		Q8NBR8	Nonsense_Mutation	SNP	ENST00000251296.1	37	c.343G>T	CCDS184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	41|41	9.085161|9.085161	0.99061|0.99061	.|.	.|.	ENSG00000117154|ENSG00000117154	ENST00000251296|ENST00000412684	.|.	.|.	.|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.42905|.	T|.	0.14|.	-29.0253|-29.0253	18.1211|18.1211	0.89572|0.89572	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	115|67	.|.	ENSP00000251296:E115X|.	E|X	+|+	1|2	0|2	IGSF21|IGSF21	18534010|18534010	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.136000|8.136000	0.89610|0.89610	2.614000|2.614000	0.88457|0.88457	0.651000|0.651000	0.88453|0.88453	GAG|TGA		0.622	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1		NM_032880		22	52	1	0	1.40151e-16	1	1.48112e-16	22	52		
NBPF3	84224	broad.mit.edu	37	1	21795329	21795329	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:21795329C>G	ENST00000318249.5	+	3	632	c.282C>G	c.(280-282)ctC>ctG	p.L94L	NBPF3_ENST00000454000.2_Intron|NBPF3_ENST00000342104.5_Silent_p.L94L|NBPF3_ENST00000318220.6_Silent_p.L38L	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	94						cytoplasm (GO:0005737)		p.L94L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCAGAAACCTCAAACAGAAAT	0.473											OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ber.2		NaN																	1	Substitution - coding silent(1)		kidney(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(280-282)CTC>CTG		neuroblastoma breakpoint family, member 3							82.0	92.0	89.0					1																	21795329		2203	4300	6503	SO:0001819	synonymous_variant	84224					cytoplasm		g.chr1:21795329C>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.282C>G	1.37:g.21795329C>G			OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	751	NBPF3_uc001bes.2_Silent_p.L38L|NBPF3_uc009vqb.2_Silent_p.L94L|NBPF3_uc010odm.1_Intron	p.L94L	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	3	632	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	94					A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Silent	SNP	ENST00000318249.5	37	c.282C>G	CCDS216.1																																																																																				0.473	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_032264		36	128	0	0	0	1	0	36	128		
HSPG2	3339	broad.mit.edu	37	1	22203044	22203044	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:22203044G>A	ENST00000374695.3	-	22	2866	c.2787C>T	c.(2785-2787)gtC>gtT	p.V929V		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	929	Laminin EGF-like 5; first part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	AGTGGCGACTGACACCCATGC	0.622																																						uc001bfj.2		NaN																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(2785-2787)GTC>GTT		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						89.0	69.0	76.0					1																	22203044		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22203044G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.2787C>T	1.37:g.22203044G>A						HSPG2_uc009vqd.2_Silent_p.V930V	p.V929V	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	22	2827	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	929			Laminin EGF-like 5; first part.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.2787C>T	CCDS30625.1																																																																																				0.622	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1		NM_005529		19	52	0	0	0	1	0	19	52		
ZBTB40	9923	broad.mit.edu	37	1	22832611	22832611	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:22832611G>A	ENST00000375647.4	+	6	1444	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	ZBTB40_ENST00000374651.4_Missense_Mutation_p.E301K|ZBTB40_ENST00000404138.1_Missense_Mutation_p.E413K	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	413					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CAGAATGACTGAAGAGAAGAC	0.483																																						uc001bft.2		NaN																	0				ovary(1)	1						c.(1237-1239)GAA>AAA		zinc finger and BTB domain containing 40							106.0	102.0	103.0					1																	22832611		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.chr1:22832611G>A	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.1237G>A	1.37:g.22832611G>A	ENSP00000364798:p.Glu413Lys					ZBTB40_uc001bfu.2_Missense_Mutation_p.E413K|ZBTB40_uc009vqi.1_Missense_Mutation_p.E301K|ZBTB40_uc001bfv.1_Missense_Mutation_p.E42K	p.E413K	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)	7	1748	+		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)	413					O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	c.1237G>A	CCDS224.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918384	0.73098	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000400239;ENST00000374651	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	6.06	3.18	0.36537	.	0.217663	0.32093	N	0.006586	T	0.81513	0.4838	L	0.36672	1.1	0.39160	D	0.962387	B;B	0.30281	0.275;0.18	B;B	0.26202	0.067;0.03	T	0.77302	-0.2638	10	0.87932	D	0	-6.6085	7.9447	0.29980	0.1384:0.0:0.7301:0.1315	.	301;413	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	K	413;413;413;301	ENSP00000384527:E413K;ENSP00000364798:E413K;ENSP00000383098:E413K;ENSP00000363782:E301K	ENSP00000363782:E301K	E	+	1	0	ZBTB40	22705198	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.973000	0.29422	0.445000	0.26639	0.655000	0.94253	GAA		0.483	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1		NM_014870		7	51	0	0	0	1	0	7	51		
CNR2	1269	broad.mit.edu	37	1	24201626	24201626	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:24201626G>A	ENST00000374472.4	-	2	643	c.482C>T	c.(481-483)tCa>tTa	p.S161L	CNR2_ENST00000536471.1_Missense_Mutation_p.S161L	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	161					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	GACTAGTGCTGAGAGGACCCA	0.587																																						uc001bif.2		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(481-483)TCA>TTA		cannabinoid receptor 2 (macrophage)	Nabilone(DB00486)						74.0	71.0	72.0					1																	24201626		2203	4300	6503	SO:0001583	missense	1269				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	g.chr1:24201626G>A	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"""GPCR / Class A : Cannabinoid receptors"""	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.482C>T	1.37:g.24201626G>A	ENSP00000363596:p.Ser161Leu						p.S161L	NM_001841	NP_001832	P34972	CNR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	2	609	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	161			Helical; Name=4; (Potential).		C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Missense_Mutation	SNP	ENST00000374472.4	37	c.482C>T	CCDS245.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103431	0.56291	.	.	ENSG00000188822	ENST00000374472;ENST00000536471	T;T	0.46819	0.86;0.86	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.246825	0.39475	N	0.001360	T	0.58637	0.2136	M	0.85041	2.73	0.36259	D	0.85442	B	0.29716	0.255	B	0.39935	0.314	T	0.69347	-0.5169	10	0.87932	D	0	.	10.4351	0.44430	0.074:0.1459:0.7801:0.0	.	161	P34972	CNR2_HUMAN	L	161	ENSP00000363596:S161L;ENSP00000442830:S161L	ENSP00000363596:S161L	S	-	2	0	CNR2	24074213	0.991000	0.36638	0.908000	0.35775	0.353000	0.29299	4.605000	0.61119	2.724000	0.93272	0.555000	0.69702	TCA		0.587	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1		NM_001841		23	64	0	0	0	1	0	23	64		
MAP3K6	9064	broad.mit.edu	37	1	27683551	27683551	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:27683551C>A	ENST00000493901.1	-	25	3552	c.3313G>T	c.(3313-3315)Gac>Tac	p.D1105Y	MAP3K6_ENST00000357582.2_Missense_Mutation_p.D1105Y|MAP3K6_ENST00000374040.3_Missense_Mutation_p.D1097Y	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1105					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGCAGTGAGTCCAGAACGAAC	0.652																																						uc001bny.1		NaN																	0				breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9						c.(3313-3315)GAC>TAC		mitogen-activated protein kinase kinase kinase							53.0	51.0	51.0					1																	27683551		2202	4300	6502	SO:0001583	missense	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27683551C>A	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.3313G>T	1.37:g.27683551C>A	ENSP00000419591:p.Asp1105Tyr					MAP3K6_uc009vsw.1_Missense_Mutation_p.D1097Y	p.D1105Y	NM_004672	NP_004663	O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	24	3562	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1105					A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	ENST00000493901.1	37	c.3313G>T	CCDS299.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077903	0.94000	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000357582	T;T;T	0.77877	-1.13;-1.13;-1.13	5.2	5.2	0.72013	.	.	.	.	.	D	0.88358	0.6415	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.89792	0.3969	9	0.87932	D	0	.	17.502	0.87734	0.0:1.0:0.0:0.0	.	1097;1105	O95382-3;O95382	.;M3K6_HUMAN	Y	1097;1105;1105	ENSP00000363152:D1097Y;ENSP00000419591:D1105Y;ENSP00000350195:D1105Y	ENSP00000350195:D1105Y	D	-	1	0	MAP3K6	27556138	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.271000	0.78506	2.421000	0.82119	0.462000	0.41574	GAC		0.652	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2		NM_004672		15	49	1	0	1.67942e-08	1	1.74647e-08	15	49		
OPRD1	4985	broad.mit.edu	37	1	29189416	29189416	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:29189416C>T	ENST00000234961.2	+	3	982	c.740C>T	c.(739-741)tCg>tTg	p.S247L		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	247					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CGCCTGCTGTCGGGCTCCAAG	0.632																																						uc001brf.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(739-741)TCG>TTG		opioid receptor, delta 1	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)						77.0	63.0	67.0					1																	29189416		2203	4300	6503	SO:0001583	missense	4985				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding	g.chr1:29189416C>T	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.740C>T	1.37:g.29189416C>T	ENSP00000234961:p.Ser247Leu						p.S247L	NM_000911	NP_000902	P41143	OPRD_HUMAN		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	3	982	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	247			Cytoplasmic (Potential).		B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	c.740C>T	CCDS329.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828392	0.90955	.	.	ENSG00000116329	ENST00000234961	T	0.41400	1.0	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62829	0.2460	M	0.73753	2.245	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	T	0.68081	-0.5503	10	0.72032	D	0.01	.	14.2291	0.65879	0.0:1.0:0.0:0.0	.	247	P41143	OPRD_HUMAN	L	247	ENSP00000234961:S247L	ENSP00000234961:S247L	S	+	2	0	OPRD1	29062003	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.651000	0.83577	2.205000	0.71048	0.462000	0.41574	TCG		0.632	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1		NM_000911		14	34	0	0	0	1	0	14	34		
LAPTM5	7805	broad.mit.edu	37	1	31210457	31210457	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:31210457G>C	ENST00000294507.3	-	6	674	c.600C>G	c.(598-600)atC>atG	p.I200M	MIR4420_ENST00000583944.1_RNA	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	200					transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCTTGAAGATAAGGACAG	0.542																																						uc001bsc.2		NaN																	0					0						c.(598-600)ATC>ATG		lysosomal protein transmembrane 5							178.0	155.0	163.0					1																	31210457		2203	4300	6503	SO:0001583	missense	7805				transport	integral to plasma membrane|lysosomal membrane		g.chr1:31210457G>C	U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511			29612	protein-coding gene	gene with protein product		601476	"""lysosomal multispanning membrane protein 5"""			8661146, 12527926	Standard	NM_006762		Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.600C>G	1.37:g.31210457G>C	ENSP00000294507:p.Ile200Met						p.I200M	NM_006762	NP_006753	Q13571	LAPM5_HUMAN		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)	6	691	-		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)	200			Helical; (Potential).		Q13240|Q14698|Q3KP54	Missense_Mutation	SNP	ENST00000294507.3	37	c.600C>G	CCDS337.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340504	0.60963	.	.	ENSG00000162511	ENST00000294507;ENST00000424259	T	0.58506	0.33	5.62	3.57	0.40892	.	0.321555	0.29396	N	0.012275	T	0.66416	0.2787	M	0.68952	2.095	0.80722	D	1	P	0.48016	0.904	P	0.57371	0.819	T	0.63857	-0.6542	10	0.46703	T	0.11	-30.1288	8.531	0.33335	0.1921:0.0:0.8079:0.0	.	200	Q13571	LAPM5_HUMAN	M	200	ENSP00000294507:I200M	ENSP00000294507:I200M	I	-	3	3	LAPTM5	30983044	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	0.765000	0.26546	0.623000	0.30267	0.650000	0.86243	ATC		0.542	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010463.1		NM_006762		26	57	0	0	0	1	0	26	57		
KHDRBS1	10657	broad.mit.edu	37	1	32508200	32508200	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:32508200G>C	ENST00000327300.7	+	9	1474	c.1307G>C	c.(1306-1308)aGa>aCa	p.R436T	KHDRBS1_ENST00000492989.1_Missense_Mutation_p.R397T|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1											endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGAGCATACAGAGAGCACCCA	0.468																																					Ovarian(173;401 1982 12359 31110 42403)	uc001bub.2		NaN																	0				ovary(1)	1						c.(1306-1308)AGA>ACA		KH domain containing, RNA binding, signal							65.0	61.0	62.0					1																	32508200		2203	4300	6503	SO:0001583	missense	10657				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:32508200G>C	U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.1307G>C	1.37:g.32508200G>C	ENSP00000313829:p.Arg436Thr					KHDRBS1_uc001bua.1_Missense_Mutation_p.R397T|KHDRBS1_uc001buc.1_RNA	p.R436T	NM_006559	NP_006550	Q07666	KHDR1_HUMAN			9	1413	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	436						Missense_Mutation	SNP	ENST00000327300.7	37	c.1307G>C	CCDS350.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951067	0.73787	.	.	ENSG00000121774	ENST00000327300;ENST00000492989;ENST00000355201	T;T	0.70631	-0.5;-0.46	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.85492	0.5709	M	0.78456	2.415	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.987;0.994	D	0.85713	0.1320	10	0.87932	D	0	.	20.5471	0.99284	0.0:0.0:1.0:0.0	.	436;397	Q07666;Q07666-3	KHDR1_HUMAN;.	T	436;397;412	ENSP00000313829:R436T;ENSP00000417731:R397T	ENSP00000313829:R436T	R	+	2	0	KHDRBS1	32280787	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.215000	0.95146	2.941000	0.99782	0.655000	0.94253	AGA		0.468	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4		NM_006559		15	33	0	0	0	1	0	15	33		
IQCC	55721	broad.mit.edu	37	1	32671825	32671825	+	Missense_Mutation	SNP	G	G	A	rs368831638		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:32671825G>A	ENST00000291358.6	+	2	134	c.113G>A	c.(112-114)cGa>cAa	p.R38Q	RP4-622L5.7_ENST00000373604.4_RNA|IQCC_ENST00000537469.1_Missense_Mutation_p.R118Q|DCDC2B_ENST00000409358.1_5'Flank|RP4-622L5.7_ENST00000421616.1_RNA	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	38										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCGATTGTACGAGAGGTCGAG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		18462	0.0		0.0	False		,,,				2504	0.001					uc001bum.2		NaN																	0		p.R38G(1)		ovary(4)	4						c.(112-114)CGA>CAA		IQ motif containing C isoform 2		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	83.0	85.0	84.0		113,353	-3.3	0.3	1		84	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	IQCC	NM_018134.2,NM_001160042.1	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	38/467,118/547	32671825	1,13005	2203	4300	6503	SO:0001583	missense	55721							g.chr1:32671825G>A	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.113G>A	1.37:g.32671825G>A	ENSP00000291358:p.Arg38Gln					IQCC_uc009vua.2_Missense_Mutation_p.R118Q|IQCC_uc010ogz.1_5'UTR|DCDC2B_uc001bun.2_5'Flank	p.R38Q	NM_018134	NP_060604	Q4KMZ1	IQCC_HUMAN			2	160	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	38					F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Missense_Mutation	SNP	ENST00000291358.6	37	c.113G>A	CCDS355.1	.	.	.	.	.	.	.	.	.	.	G	9.303	1.053489	0.19907	0.0	1.16E-4	ENSG00000160051	ENST00000537469;ENST00000291358	T;T	0.11385	2.78;2.78	5.13	-3.3	0.05003	.	0.733693	0.11618	N	0.546049	T	0.04407	0.0121	N	0.04636	-0.2	0.20563	N	0.999887	B;B	0.21147	0.052;0.03	B;B	0.15052	0.012;0.012	T	0.42999	-0.9418	10	0.19590	T	0.45	-4.0E-4	12.38	0.55301	0.6161:0.0:0.3839:0.0	.	118;38	F5H7T8;Q4KMZ1	.;IQCC_HUMAN	Q	118;38	ENSP00000442291:R118Q;ENSP00000291358:R38Q	ENSP00000291358:R38Q	R	+	2	0	IQCC	32444412	0.001000	0.12720	0.304000	0.25085	0.332000	0.28634	-0.573000	0.05874	-0.707000	0.05022	-0.137000	0.14449	CGA		0.612	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3		NM_018134		35	108	0	0	0	1	0	35	108		
IQCC	55721	broad.mit.edu	37	1	32673000	32673000	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:32673000G>C	ENST00000291358.6	+	5	739	c.718G>C	c.(718-720)Gag>Cag	p.E240Q	RP4-622L5.7_ENST00000373604.4_RNA|IQCC_ENST00000537469.1_Missense_Mutation_p.E320Q|DCDC2B_ENST00000409358.1_5'Flank|RP4-622L5.7_ENST00000421616.1_RNA	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	240										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GACCACTGGAGAGCTAGAACA	0.547																																						uc001bum.2		NaN																	0				ovary(4)	4						c.(718-720)GAG>CAG		IQ motif containing C isoform 2							74.0	71.0	72.0					1																	32673000		2203	4300	6503	SO:0001583	missense	55721							g.chr1:32673000G>C	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.718G>C	1.37:g.32673000G>C	ENSP00000291358:p.Glu240Gln					IQCC_uc009vua.2_Missense_Mutation_p.E320Q|IQCC_uc010ogz.1_Missense_Mutation_p.E140Q|DCDC2B_uc001bun.2_5'Flank	p.E240Q	NM_018134	NP_060604	Q4KMZ1	IQCC_HUMAN			5	765	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	240					F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Missense_Mutation	SNP	ENST00000291358.6	37	c.718G>C	CCDS355.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.394764	0.25205	.	.	ENSG00000160051	ENST00000537469;ENST00000291358	T;T	0.10668	2.85;2.85	3.81	1.94	0.25998	.	0.277816	0.25941	N	0.027313	T	0.15262	0.0368	L	0.34521	1.04	0.09310	N	1	D;D	0.67145	0.996;0.996	P;P	0.62014	0.897;0.897	T	0.03887	-1.0995	10	0.51188	T	0.08	-5.2236	6.3377	0.21304	0.2078:0.0:0.7922:0.0	.	320;240	F5H7T8;Q4KMZ1	.;IQCC_HUMAN	Q	320;240	ENSP00000442291:E320Q;ENSP00000291358:E240Q	ENSP00000291358:E240Q	E	+	1	0	IQCC	32445587	0.078000	0.21339	0.159000	0.22649	0.059000	0.15707	0.480000	0.22244	0.594000	0.29761	0.491000	0.48974	GAG		0.547	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3		NM_018134		22	49	0	0	0	1	0	22	49		
TSSK3	81629	broad.mit.edu	37	1	32828367	32828367	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:32828367C>G	ENST00000373534.3	+	1	570	c.65C>G	c.(64-66)tCa>tGa	p.S22*	FAM229A_ENST00000432622.1_5'Flank|FAM229A_ENST00000415596.1_Intron	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	22	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				GGGACCTACTCAAAAGTCAAA	0.507																																						uc001bvf.2		NaN																	0				stomach(1)	1						c.(64-66)TCA>TGA		testis-specific serine kinase 3							111.0	119.0	116.0					1																	32828367		2203	4300	6503	SO:0001587	stop_gained	81629				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:32828367C>G	AF296450	CCDS362.1	1p35-p34	2008-02-05	2005-03-10	2005-03-12	ENSG00000162526	ENSG00000162526			15473	protein-coding gene	gene with protein product		607660	"""serine/threonine kinase 22C (spermiogenesis associated)"""	STK22C		11597141	Standard	NM_052841		Approved	SPOGA3	uc001bvf.3	Q96PN8	OTTHUMG00000007585	ENST00000373534.3:c.65C>G	1.37:g.32828367C>G	ENSP00000362634:p.Ser22*					uc001bve.1_RNA	p.S22*	NM_052841	NP_443073	Q96PN8	TSSK3_HUMAN			1	506	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)	22			ATP (By similarity).|Protein kinase.		Q5TEE5	Nonsense_Mutation	SNP	ENST00000373534.3	37	c.65C>G	CCDS362.1	.	.	.	.	.	.	.	.	.	.	C	38	7.166103	0.98107	.	.	ENSG00000162526	ENST00000373534	.	.	.	5.13	5.13	0.70059	.	0.000000	0.45606	D	0.000343	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.6751	0.77311	0.0:1.0:0.0:0.0	.	.	.	.	X	22	.	ENSP00000362634:S22X	S	+	2	0	TSSK3	32600954	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	1.724000	0.38064	2.569000	0.86673	0.563000	0.77884	TCA		0.507	TSSK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020049.1				52	162	0	0	0	1	0	52	162		
RBBP4	5928	broad.mit.edu	37	1	33138099	33138099	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:33138099G>A	ENST00000373493.5	+	9	1174	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N	RBBP4_ENST00000414241.3_Missense_Mutation_p.D338N|RBBP4_ENST00000458695.2_Missense_Mutation_p.D304N|RBBP4_ENST00000544435.1_Missense_Mutation_p.D87N|RBBP4_ENST00000373485.1_Missense_Mutation_p.D339N	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	339					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CAGTGGTACTGATCGCAGACT	0.358																																						uc001bvr.2		NaN																	0				ovary(1)	1						c.(1015-1017)GAT>AAT		retinoblastoma binding protein 4 isoform a							94.0	88.0	90.0					1																	33138099		2203	4300	6503	SO:0001583	missense	5928				cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding	g.chr1:33138099G>A	BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"""WD repeat domain containing"""	9887	protein-coding gene	gene with protein product		602923	"""retinoblastoma-binding protein 4"""			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.1015G>A	1.37:g.33138099G>A	ENSP00000362592:p.Asp339Asn					RBBP4_uc001bvs.2_Missense_Mutation_p.D338N|RBBP4_uc010ohj.1_Missense_Mutation_p.D87N|RBBP4_uc010ohk.1_Missense_Mutation_p.D304N	p.D339N	NM_005610	NP_005601	Q09028	RBBP4_HUMAN			9	1174	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	339			WD 5.		B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Missense_Mutation	SNP	ENST00000373493.5	37	c.1015G>A	CCDS366.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255267	0.95336	.	.	ENSG00000162521	ENST00000414241;ENST00000373493;ENST00000544435;ENST00000373485;ENST00000458695;ENST00000482190	D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	4.86	4.86	0.63082	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.96256	0.8779	H	0.96489	3.83	0.80722	D	1	P;D	0.54964	0.936;0.969	P;D	0.68192	0.884;0.956	D	0.97451	1.0028	10	0.66056	D	0.02	.	17.3461	0.87310	0.0:0.0:1.0:0.0	.	338;339	Q09028-2;Q09028	.;RBBP4_HUMAN	N	338;339;87;339;304;77	ENSP00000398242:D338N;ENSP00000362592:D339N;ENSP00000442384:D87N;ENSP00000362584:D339N;ENSP00000396057:D304N;ENSP00000436565:D77N	ENSP00000362584:D339N	D	+	1	0	RBBP4	32910686	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.806000	0.99153	2.425000	0.82216	0.591000	0.81541	GAT		0.358	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021957.3		NM_005610		16	22	0	0	0	1	0	16	22		
DLGAP3	58512	broad.mit.edu	37	1	35370141	35370141	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:35370141C>T	ENST00000373347.1	-	3	1112	c.844G>A	c.(844-846)Gag>Aag	p.E282K	DLGAP3_ENST00000235180.4_Missense_Mutation_p.E282K|DLGAP3_ENST00000495979.1_5'Flank			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	282					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CCACCAGGCTCCCCAGGGGGC	0.677																																						uc001byc.2		NaN																	0				ovary(3)	3						c.(844-846)GAG>AAG		discs, large (Drosophila) homolog-associated							60.0	65.0	64.0					1																	35370141		2203	4300	6503	SO:0001583	missense	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35370141C>T	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.844G>A	1.37:g.35370141C>T	ENSP00000362444:p.Glu282Lys						p.E282K	NM_001080418	NP_001073887	O95886	DLGP3_HUMAN			1	844	-		Myeloproliferative disorder(586;0.0393)	282					Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.844G>A	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	C	8.671	0.902787	0.17760	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.25414	1.8;1.8	5.02	4.11	0.48088	.	0.276731	0.30235	N	0.010082	T	0.15478	0.0373	N	0.16903	0.455	0.38011	D	0.934531	B	0.06786	0.001	B	0.06405	0.002	T	0.08827	-1.0703	10	0.15499	T	0.54	-11.2289	13.6165	0.62110	0.0:0.9248:0.0:0.0752	.	282	O95886	DLGP3_HUMAN	K	282	ENSP00000362444:E282K;ENSP00000235180:E282K	ENSP00000235180:E282K	E	-	1	0	DLGAP3	35142728	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.098000	0.50259	1.251000	0.43983	0.655000	0.94253	GAG		0.677	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1		NM_021234		33	146	0	0	0	1	0	33	146		
AGO3	192669	broad.mit.edu	37	1	36475127	36475127	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:36475127C>G	ENST00000373191.4	+	9	1430	c.1081C>G	c.(1081-1083)Cag>Gag	p.Q361E	AGO3_ENST00000246314.6_Missense_Mutation_p.Q127E|RP4-665N4.8_ENST00000479395.2_RNA|RP4-665N4.8_ENST00000466576.2_RNA	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	361					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)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										AACAGACAATCAGACTTCCAC	0.343																																						uc001bzp.2		NaN																	0					0						c.(1081-1083)CAG>GAG		eukaryotic translation initiation factor 2C, 3							104.0	98.0	100.0					1																	36475127		2203	4300	6503	SO:0001583	missense	192669				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr1:36475127C>G	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.1081C>G	1.37:g.36475127C>G	ENSP00000362287:p.Gln361Glu					EIF2C3_uc001bzq.2_Missense_Mutation_p.Q127E	p.Q361E	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN			9	1337	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	361					B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	c.1081C>G	CCDS399.1	.	.	.	.	.	.	.	.	.	.	C	36	5.636624	0.96693	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.15718	2.4;2.4	6.17	6.17	0.99709	Argonaute/Dicer protein, PAZ (3);	0.000000	0.85682	D	0.000000	T	0.47248	0.1435	M	0.89163	3.01	0.80722	D	1	P	0.49559	0.925	P	0.55824	0.785	T	0.47355	-0.9124	10	0.59425	D	0.04	-8.1736	20.8794	0.99867	0.0:1.0:0.0:0.0	.	361	Q9H9G7	AGO3_HUMAN	E	361;127	ENSP00000362287:Q361E;ENSP00000246314:Q127E	ENSP00000246314:Q127E	Q	+	1	0	EIF2C3	36247714	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CAG		0.343	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4		NM_024852		13	40	0	0	0	1	0	13	40		
MAP7D1	55700	broad.mit.edu	37	1	36641826	36641826	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:36641826G>C	ENST00000373151.2	+	7	1093	c.877G>C	c.(877-879)Gag>Cag	p.E293Q	MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000316156.4_Missense_Mutation_p.E256Q|MAP7D1_ENST00000373150.4_Missense_Mutation_p.E293Q|MAP7D1_ENST00000373148.4_5'Flank	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	293					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GAGCGCATGGGAGAGCAGCAT	0.667																																						uc001bzz.2		NaN																	0				ovary(3)|breast(2)	5						c.(877-879)GAG>CAG		MAP7 domain containing 1							24.0	27.0	26.0					1																	36641826		2156	4275	6431	SO:0001583	missense	55700					cytoplasm|spindle		g.chr1:36641826G>C	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.877G>C	1.37:g.36641826G>C	ENSP00000362244:p.Glu293Gln					MAP7D1_uc001caa.2_Missense_Mutation_p.E293Q|MAP7D1_uc001cab.2_Missense_Mutation_p.E256Q|MAP7D1_uc001cac.2_5'UTR|MAP7D1_uc001cad.2_5'Flank	p.E293Q	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN			7	1093	+		Myeloproliferative disorder(586;0.0393)	293					D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	ENST00000373151.2	37	c.877G>C	CCDS30673.1	.	.	.	.	.	.	.	.	.	.	G	35	5.497059	0.96355	.	.	ENSG00000116871	ENST00000316156;ENST00000373150;ENST00000373151	T;T;T	0.18502	2.21;2.21;2.21	5.3	5.3	0.74995	.	0.000000	0.38217	N	0.001770	T	0.43590	0.1254	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.998;0.994;0.997	T	0.23154	-1.0196	10	0.41790	T	0.15	-23.8686	17.499	0.87726	0.0:0.0:1.0:0.0	.	256;293;293	Q3KQU3-2;Q3KQU3-4;Q3KQU3	.;.;MA7D1_HUMAN	Q	256;293;293	ENSP00000320228:E256Q;ENSP00000362243:E293Q;ENSP00000362244:E293Q	ENSP00000320228:E256Q	E	+	1	0	MAP7D1	36414413	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.407000	0.97325	2.454000	0.82982	0.655000	0.94253	GAG		0.667	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1		NM_018067		9	53	0	0	0	1	0	9	53		
CSF3R	1441	broad.mit.edu	37	1	36933742	36933742	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:36933742C>T	ENST00000373106.1	-	13	2204	c.1657G>A	c.(1657-1659)Gag>Aag	p.E553K	CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000373104.1_Missense_Mutation_p.E553K|CSF3R_ENST00000361632.4_Missense_Mutation_p.E553K|CSF3R_ENST00000373103.1_Missense_Mutation_p.E553K|CSF3R_ENST00000331941.5_Missense_Mutation_p.E553K|CSF3R_ENST00000338937.5_Missense_Mutation_p.E553K|CSF3R_ENST00000440588.2_Missense_Mutation_p.E553K|CSF3R_ENST00000418048.2_Missense_Mutation_p.E553K	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	553	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTCCCCAGCTCAGGGGGCTCA	0.592																																						uc001caw.1		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(1657-1659)GAG>AAG		colony stimulating factor 3 receptor isoform a	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						59.0	60.0	60.0					1																	36933742		2203	4300	6503	SO:0001583	missense	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36933742C>T	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1657G>A	1.37:g.36933742C>T	ENSP00000362198:p.Glu553Lys					CSF3R_uc001cat.1_Missense_Mutation_p.E116K|CSF3R_uc009vvc.1_Missense_Mutation_p.E82K|CSF3R_uc001cau.1_5'UTR|CSF3R_uc001cav.1_Missense_Mutation_p.E553K|CSF3R_uc001cax.1_Missense_Mutation_p.E553K|CSF3R_uc001cay.1_Missense_Mutation_p.E553K	p.E553K	NM_000760	NP_000751	Q99062	CSF3R_HUMAN			13	1835	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	553			Fibronectin type-III 5.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000373106.1	37	c.1657G>A	CCDS413.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551842	0.65311	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.39	2.48	0.30137	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.603677	0.18525	N	0.138650	T	0.55737	0.1939	M	0.61703	1.905	0.26616	N	0.972743	P;D;P;P;P;D	0.53745	0.811;0.961;0.908;0.811;0.926;0.962	P;P;P;P;P;P	0.56216	0.489;0.757;0.492;0.489;0.674;0.794	T	0.43972	-0.9358	10	0.22109	T	0.4	-7.8342	5.3907	0.16242	0.1629:0.6707:0.0:0.1664	.	553;553;553;553;553;553	Q1ZYL6;E1B6W6;Q99062-3;Q99062;Q99062-4;Q99062-2	.;.;.;CSF3R_HUMAN;.;.	K	553	ENSP00000362198:E553K;ENSP00000362196:E553K;ENSP00000362195:E553K;ENSP00000355406:E553K;ENSP00000332180:E553K;ENSP00000401588:E553K;ENSP00000345013:E553K;ENSP00000397568:E553K	ENSP00000332180:E553K	E	-	1	0	CSF3R	36706329	0.901000	0.30685	0.977000	0.42913	0.886000	0.51366	1.608000	0.36847	0.635000	0.30488	0.585000	0.79938	GAG		0.592	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2		NM_156039		30	81	0	0	0	1	0	30	81		
TRIT1	54802	broad.mit.edu	37	1	40313303	40313303	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:40313303G>A	ENST00000316891.5	-	7	859	c.845C>T	c.(844-846)tCa>tTa	p.S282L	TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.S282L|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000441669.2_Missense_Mutation_p.S200L|TRIT1_ENST00000545233.1_Missense_Mutation_p.S36L	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	282	Interaction with substrate tRNA. {ECO:0000250}.				tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAAGCCAATTGATTGGAAGAT	0.458																																						uc010oiz.1		NaN																	0				ovary(1)	1						c.(844-846)TCA>TTA		tRNA isopentenyltransferase 1 precursor							184.0	169.0	174.0					1																	40313303		2203	4300	6503	SO:0001583	missense	54802				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity	g.chr1:40313303G>A	AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.845C>T	1.37:g.40313303G>A	ENSP00000321810:p.Ser282Leu					TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_Intron|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_Missense_Mutation_p.S36L|TRIT1_uc001ceh.3_Missense_Mutation_p.S36L|TRIT1_uc009vvv.2_Missense_Mutation_p.S141L|TRIT1_uc001cei.3_Missense_Mutation_p.S36L|TRIT1_uc001ceq.2_Intron|TRIT1_uc001cek.2_Intron|TRIT1_uc009vvx.2_Intron|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Missense_Mutation_p.S200L|TRIT1_uc001cen.2_Missense_Mutation_p.S36L|TRIT1_uc001ceo.2_Missense_Mutation_p.S36L|TRIT1_uc001cep.2_Missense_Mutation_p.S36L	p.S282L	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		7	859	-	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	282			Interaction with substrate tRNA (By similarity).		A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	ENST00000316891.5	37	c.845C>T	CCDS30681.1	.	.	.	.	.	.	.	.	.	.	G	34	5.390090	0.95988	.	.	ENSG00000043514	ENST00000046894;ENST00000372825;ENST00000441669;ENST00000316891;ENST00000372818;ENST00000534869;ENST00000545233	T;T;T	0.42131	0.98;0.98;0.98	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.73009	0.3532	M	0.90542	3.125	0.80722	D	1	P;D;D	0.89917	0.948;1.0;1.0	P;D;D	0.80764	0.837;0.982;0.994	T	0.77338	-0.2625	10	0.66056	D	0.02	-6.6318	20.1162	0.97934	0.0:0.0:1.0:0.0	.	282;282;200	Q9H3H1;Q9H3H1-4;Q9H3H1-5	MOD5_HUMAN;.;.	L	282;200;194;282;282;175;36	ENSP00000321810:S282L;ENSP00000361905:S282L;ENSP00000439596:S36L	ENSP00000046894:S282L	S	-	2	0	TRIT1	40085890	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.411000	0.97342	2.756000	0.94617	0.655000	0.94253	TCA		0.458	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2		NM_017646		43	111	0	0	0	1	0	43	111		
ZNF684	127396	broad.mit.edu	37	1	41006357	41006357	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:41006357G>A	ENST00000372699.3	+	3	366	c.115G>A	c.(115-117)Gag>Aag	p.E39K	ZNF684_ENST00000372696.3_Missense_Mutation_p.E39K|ZNF684_ENST00000372697.3_Missense_Mutation_p.E39K|ZNF684_ENST00000493756.1_Intron	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	39	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			TGTGATGTTGGAGAACTATAG	0.433																																						uc001cft.1		NaN																	0					0						c.(115-117)GAG>AAG		zinc finger protein 684							200.0	174.0	183.0					1																	41006357		2203	4300	6503	SO:0001583	missense	127396				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:41006357G>A		CCDS454.1	1p34.2	2013-01-08			ENSG00000117010	ENSG00000117010		"""Zinc fingers, C2H2-type"", ""-"""	28418	protein-coding gene	gene with protein product	"""hypothetical protein MGC27466"""					12477932	Standard	NM_152373		Approved	MGC27466	uc001cft.2	Q5T5D7	OTTHUMG00000007359	ENST00000372699.3:c.115G>A	1.37:g.41006357G>A	ENSP00000361784:p.Glu39Lys						p.E39K	NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)		3	366	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	39			KRAB.		Q2NKY4	Missense_Mutation	SNP	ENST00000372699.3	37	c.115G>A	CCDS454.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558689	0.86231	.	.	ENSG00000117010	ENST00000372699;ENST00000372697;ENST00000372696	T;T;T	0.04234	3.67;3.67;3.67	3.47	3.47	0.39725	Krueppel-associated box (4);	.	.	.	.	T	0.26882	0.0658	H	0.97240	3.965	0.32435	N	0.547469	P	0.51240	0.943	P	0.53912	0.737	T	0.56165	-0.8024	9	0.87932	D	0	.	13.262	0.60111	0.0:0.0:1.0:0.0	.	39	Q5T5D7	ZN684_HUMAN	K	39	ENSP00000361784:E39K;ENSP00000361782:E39K;ENSP00000361781:E39K	ENSP00000361781:E39K	E	+	1	0	ZNF684	40778944	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.430000	0.52807	2.239000	0.73571	0.650000	0.86243	GAG		0.433	ZNF684-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019260.3		NM_152373		34	117	0	0	0	1	0	34	117		
ERMAP	114625	broad.mit.edu	37	1	43308331	43308331	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:43308331G>C	ENST00000372517.2	+	12	1100	c.856G>C	c.(856-858)Gag>Cag	p.E286Q	RP11-342M1.3_ENST00000425076.1_RNA|RP11-342M1.3_ENST00000414798.1_RNA|ERMAP_ENST00000328249.3_Missense_Mutation_p.E196Q|ERMAP_ENST00000372514.3_Missense_Mutation_p.E286Q|ERMAP_ENST00000487556.1_3'UTR|RP11-342M1.3_ENST00000444563.1_RNA|RP11-342M1.3_ENST00000416809.2_RNA	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	286	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.		Missing (in Sc-3 allele).			cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTAGGCTCTGAGTACTTCAC	0.507																																						uc001cic.1		NaN																	0				ovary(1)	1						c.(856-858)GAG>CAG		erythroblast membrane-associated protein							158.0	141.0	147.0					1																	43308331		2203	4300	6503	SO:0001583	missense	114625					integral to membrane|plasma membrane		g.chr1:43308331G>C	AF311284	CCDS475.1	1p34	2014-07-19	2006-02-23		ENSG00000164010	ENSG00000164010		"""Blood group antigens"", ""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	15743	protein-coding gene	gene with protein product		609017	"""Radin blood group"", ""Scianna blood group"", ""erythroblast membrane-associated protein"", ""erythroblast membrane-associated protein (RD and SC blood groups)"""	RD, SC		11549310	Standard	XM_005270415		Approved	BTN5	uc001cie.1	Q96PL5	OTTHUMG00000007619	ENST00000372517.2:c.856G>C	1.37:g.43308331G>C	ENSP00000361595:p.Glu286Gln					ERMAP_uc001cid.1_RNA|ERMAP_uc001cie.1_Missense_Mutation_p.E286Q|ERMAP_uc001cif.1_Missense_Mutation_p.E196Q	p.E286Q	NM_001017922	NP_001017922	Q96PL5	ERMAP_HUMAN			12	1126	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	286		Missing (in Sc-3 allele).	Cytoplasmic (Potential).|B30.2/SPRY.		D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	Missense_Mutation	SNP	ENST00000372517.2	37	c.856G>C	CCDS475.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133384	0.37630	.	.	ENSG00000164010	ENST00000372517;ENST00000372514;ENST00000328249	T;T;T	0.14022	2.54;2.54;2.54	4.91	3.96	0.45880	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.558630	0.18024	N	0.154138	T	0.09862	0.0242	L	0.31845	0.965	0.21950	N	0.999455	P	0.39809	0.689	B	0.39840	0.311	T	0.16867	-1.0388	10	0.24483	T	0.36	.	6.2247	0.20701	0.102:0.2035:0.6945:0.0	.	286	Q96PL5	ERMAP_HUMAN	Q	286;286;196	ENSP00000361595:E286Q;ENSP00000361592:E286Q;ENSP00000332439:E196Q	ENSP00000332439:E196Q	E	+	1	0	ERMAP	43080918	0.825000	0.29262	0.933000	0.37362	0.256000	0.26092	1.253000	0.32886	2.559000	0.86315	0.563000	0.77884	GAG		0.507	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020180.1		NM_018538		27	124	0	0	0	1	0	27	124		
TOE1	114034	broad.mit.edu	37	1	45809319	45809319	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:45809319C>T	ENST00000372090.5	+	8	2061	c.1478C>T	c.(1477-1479)tCt>tTt	p.S493F	TOE1_ENST00000539779.1_Missense_Mutation_p.S413F|TESK2_ENST00000486676.1_5'Flank|TOE1_ENST00000495703.1_3'UTR	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	493						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					AGCCAGTTCTCTCGTTCCTCC	0.532																																						uc009vxq.2		NaN																	0				central_nervous_system(1)	1						c.(1477-1479)TCT>TTT		target of EGR1, member 1 (nuclear)							67.0	65.0	65.0					1																	45809319		2203	4300	6503	SO:0001583	missense	114034					nuclear speck|nucleolus	nucleic acid binding|zinc ion binding	g.chr1:45809319C>T		CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.1478C>T	1.37:g.45809319C>T	ENSP00000361162:p.Ser493Phe					TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Missense_Mutation_p.S413F|TOE1_uc001cnr.3_RNA	p.S493F	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN			8	2061	+	Acute lymphoblastic leukemia(166;0.155)		493					B4DEM6|Q6IA35|Q8IWN5|Q9H846	Missense_Mutation	SNP	ENST00000372090.5	37	c.1478C>T	CCDS521.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186822	0.78789	.	.	ENSG00000132773	ENST00000372090;ENST00000539779	T;T	0.37058	1.23;1.22	6.17	6.17	0.99709	.	0.160294	0.56097	D	0.000022	T	0.62768	0.2455	M	0.71581	2.175	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70935	0.971;0.971	T	0.61667	-0.7016	10	0.87932	D	0	-19.9296	20.8794	0.99867	0.0:1.0:0.0:0.0	.	413;493	B4DEM6;Q96GM8	.;TOE1_HUMAN	F	493;413	ENSP00000361162:S493F;ENSP00000438900:S413F	ENSP00000361162:S493F	S	+	2	0	TOE1	45581906	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.055000	0.71103	2.941000	0.99782	0.655000	0.94253	TCT		0.532	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1		NM_025077		28	90	0	0	0	1	0	28	90		
TESK2	10420	broad.mit.edu	37	1	45811142	45811142	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:45811142G>C	ENST00000372086.3	-	11	1486	c.1086C>G	c.(1084-1086)atC>atG	p.I362M	TESK2_ENST00000538496.1_Missense_Mutation_p.I279M|TESK2_ENST00000341771.6_Missense_Mutation_p.I333M|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.I333M	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	362					actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					GAGACAGCCAGATGGTACGTC	0.537																																						uc001cns.1		NaN																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(1084-1086)ATC>ATG		testis-specific protein kinase 2							55.0	57.0	56.0					1																	45811142		2018	4165	6183	SO:0001583	missense	10420				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:45811142G>C	AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.1086C>G	1.37:g.45811142G>C	ENSP00000361158:p.Ile362Met					TESK2_uc009vxr.1_Missense_Mutation_p.I333M|TESK2_uc010olo.1_Missense_Mutation_p.I279M|TESK2_uc009vxs.1_Missense_Mutation_p.I154M	p.I362M	NM_007170	NP_009101	Q96S53	TESK2_HUMAN			11	1489	-	Acute lymphoblastic leukemia(166;0.155)		362					Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	ENST00000372086.3	37	c.1086C>G	CCDS41323.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771522	0.49680	.	.	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000538496	T;T;T;T	0.76448	-0.94;-0.75;-0.94;-1.02	5.87	4.02	0.46733	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	T	0.75087	0.3802	L	0.34521	1.04	0.80722	D	1	B;B	0.31752	0.338;0.228	P;B	0.46585	0.521;0.322	T	0.69993	-0.4994	10	0.34782	T	0.22	-10.7395	9.7632	0.40545	0.2083:0.0:0.7917:0.0	.	333;362	Q96S53-3;Q96S53	.;TESK2_HUMAN	M	333;362;346;333;279	ENSP00000361156:I333M;ENSP00000361158:I362M;ENSP00000343940:I333M;ENSP00000441746:I279M	ENSP00000343940:I333M	I	-	3	3	TESK2	45583729	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.766000	0.55280	0.845000	0.35118	-0.136000	0.14681	ATC		0.537	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1		NM_007170		15	57	0	0	0	1	0	15	57		
TESK2	10420	broad.mit.edu	37	1	45811226	45811226	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:45811226G>A	ENST00000372086.3	-	11	1402	c.1002C>T	c.(1000-1002)ctC>ctT	p.L334L	TESK2_ENST00000538496.1_Silent_p.L251L|TESK2_ENST00000341771.6_Silent_p.L305L|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Silent_p.L305L	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	334					actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					CTTTCTCCAAGAGTCCTGAAG	0.463																																						uc001cns.1		NaN																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(1000-1002)CTC>CTT		testis-specific protein kinase 2							55.0	55.0	55.0					1																	45811226		1917	4126	6043	SO:0001819	synonymous_variant	10420				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:45811226G>A	AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.1002C>T	1.37:g.45811226G>A						TESK2_uc009vxr.1_Silent_p.L305L|TESK2_uc010olo.1_Silent_p.L251L|TESK2_uc009vxs.1_Silent_p.L126L	p.L334L	NM_007170	NP_009101	Q96S53	TESK2_HUMAN			11	1405	-	Acute lymphoblastic leukemia(166;0.155)		334					Q5T422|Q5T423|Q8N520|Q9Y3Q6	Silent	SNP	ENST00000372086.3	37	c.1002C>T	CCDS41323.1																																																																																				0.463	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1		NM_007170		12	50	0	0	0	1	0	12	50		
RAD54L	8438	broad.mit.edu	37	1	46715746	46715746	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:46715746G>C	ENST00000371975.4	+	3	839	c.165G>C	c.(163-165)ttG>ttC	p.L55F	RAD54L_ENST00000442598.1_Missense_Mutation_p.L55F	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	55					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GGAAACCTTTGAGTCAGCTAA	0.498								Direct reversal of damage;Homologous recombination																														uc009vye.2		NaN																	0				ovary(2)|skin(1)	3						c.(163-165)TTG>TTC	Direct_reversal_of_damage|Homologous_recombination	RAD54-like protein							173.0	149.0	157.0					1																	46715746		2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46715746G>C	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.165G>C	1.37:g.46715746G>C	ENSP00000361043:p.Leu55Phe					RAD54L_uc001cpl.2_Missense_Mutation_p.L55F	p.L55F	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	4	279	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	55					Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.165G>C	CCDS532.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880989	0.72294	.	.	ENSG00000085999	ENST00000442598;ENST00000371975	D;D	0.89875	-2.58;-2.58	4.95	4.04	0.47022	.	0.000000	0.64402	D	0.000001	D	0.92928	0.7750	M	0.71581	2.175	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	D	0.92361	0.5897	10	0.44086	T	0.13	-6.1207	13.2105	0.59821	0.0789:0.0:0.9211:0.0	.	55	Q92698	RAD54_HUMAN	F	55	ENSP00000396113:L55F;ENSP00000361043:L55F	ENSP00000361043:L55F	L	+	3	2	RAD54L	46488333	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.835000	0.48175	1.208000	0.43306	0.655000	0.94253	TTG		0.498	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1		NM_003579		32	97	0	0	0	1	0	32	97		
DMRTA2	63950	broad.mit.edu	37	1	50884475	50884475	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:50884475G>A	ENST00000404795.3	-	3	1883	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	DMRTA2_ENST00000418121.1_Silent_p.F497F	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	497	Ala-rich.				cerebral cortex regionalization (GO:0021796)|dopaminergic neuron differentiation (GO:0071542)|neuron fate specification (GO:0048665)|positive regulation of neuroblast proliferation (GO:0002052)|skeletal muscle cell differentiation (GO:0035914)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(4)|pancreas(1)	6						TGGGTGGGCGGAAGCCGAGCG	0.726																																					Colon(196;1651 2045 3292 36497 38236)|Esophageal Squamous(2;257 258 11567 27043 43804)	uc010ona.1		NaN																	0					0						c.(1489-1491)TTC>TTT		DMRT-like family A2							7.0	8.0	8.0					1																	50884475		1702	3767	5469	SO:0001819	synonymous_variant	63950				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:50884475G>A	AJ301580	CCDS44141.1	1p33	2008-08-04			ENSG00000142700	ENSG00000142700			13908	protein-coding gene	gene with protein product		614804				11863363	Standard	NM_032110		Approved		uc010onb.2	Q96SC8	OTTHUMG00000007884	ENST00000404795.3:c.1491C>T	1.37:g.50884475G>A						DMRTA2_uc010onb.1_Silent_p.F497F	p.F497F	NM_032110	NP_115486	Q96SC8	DMTA2_HUMAN			2	1587	-			497			Ala-rich.		Q5TFQ3	Silent	SNP	ENST00000404795.3	37	c.1491C>T	CCDS44141.1																																																																																				0.726	DMRTA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351074.1		NM_032110		8	17	0	0	0	1	0	8	17		
NRD1	4898	broad.mit.edu	37	1	52258060	52258060	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:52258060C>G	ENST00000354831.7	-	27	3205	c.3016G>C	c.(3016-3018)Gag>Cag	p.E1006Q	NRD1_ENST00000485608.1_5'UTR|RP4-657D16.3_ENST00000591675.1_RNA|RP4-657D16.3_ENST00000586761.1_RNA|RP4-657D16.3_ENST00000588291.1_RNA|NRD1_ENST00000539524.1_Missense_Mutation_p.E874Q|NRD1_ENST00000352171.7_Missense_Mutation_p.E938Q	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	937					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ACAAGCAGCTCCATAAGCGTA	0.488																																						uc001ctc.3		NaN																	0					0						c.(3016-3018)GAG>CAG		nardilysin isoform a							95.0	97.0	97.0					1																	52258060		2203	4300	6503	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52258060C>G	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.3016G>C	1.37:g.52258060C>G	ENSP00000346890:p.Glu1006Gln					NRD1_uc009vzb.2_Missense_Mutation_p.E701Q|NRD1_uc001ctd.3_Missense_Mutation_p.E938Q|NRD1_uc001cte.2_Missense_Mutation_p.E874Q|NRD1_uc001ctf.2_Missense_Mutation_p.E938Q	p.E1006Q	NM_002525	NP_002516	O43847	NRDC_HUMAN			27	3338	-			937					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.3016G>C	CCDS559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.968611|3.968611	0.74131|0.74131	.|.	.|.	ENSG00000078618|ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665;ENST00000546169|ENST00000440943	T;T;T|.	0.07800|.	3.16;3.16;3.16|.	4.99|4.99	4.99|4.99	0.66335|0.66335	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);|.	0.105878|.	0.64402|.	D|.	0.000005|.	T|T	0.76601|0.76601	0.4010|0.4010	M|M	0.74546|0.74546	2.27|2.27	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.996;0.998;0.993|.	T|T	0.76391|0.76391	-0.2976|-0.2976	10|5	0.42905|.	T|.	0.14|.	-15.2394|-15.2394	18.4881|18.4881	0.90836|0.90836	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	938;937;1006|.	F5H6R2;O43847;B1AKJ5|.	.;NRDC_HUMAN;.|.	Q|A	938;1006;874;368;938|352	ENSP00000262679:E938Q;ENSP00000346890:E1006Q;ENSP00000444416:E874Q|.	ENSP00000262679:E938Q|.	E|G	-|-	1|2	0|0	NRD1|NRD1	52030648|52030648	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.519000|0.519000	0.34347|0.34347	7.180000|7.180000	0.77674|0.77674	2.604000|2.604000	0.88044|0.88044	0.555000|0.555000	0.69702|0.69702	GAG|GGA		0.488	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1		NM_002525		12	63	0	0	0	1	0	12	63		
ZCCHC11	23318	broad.mit.edu	37	1	52941198	52941198	+	Missense_Mutation	SNP	G	G	A	rs143625963	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:52941198G>A	ENST00000371544.3	-	13	2295	c.2033C>T	c.(2032-2034)tCa>tTa	p.S678L	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S678L|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	678	PAP-associated 1.				cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CCTCTTGACTGAAAATGGATC	0.393													G|||	4	0.000798722	0.0023	0.0014	5008	,	,		19008	0.0		0.0	False		,,,				2504	0.0					uc001ctx.2		NaN																	0				ovary(2)|skin(1)	3						c.(2032-2034)TCA>TTA		zinc finger, CCHC domain containing 11 isoform		G	LEU/SER,LEU/SER	10,4394	11.4+/-27.6	0,10,2192	28.0	25.0	26.0		2033,2033	5.5	1.0	1	dbSNP_134	26	0,8600		0,0,4300	yes	missense,missense	ZCCHC11	NM_001009881.2,NM_015269.2	145,145	0,10,6492	AA,AG,GG		0.0,0.2271,0.0769	possibly-damaging,possibly-damaging	678/1646,678/1645	52941198	10,12994	2202	4300	6502	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52941198G>A	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2033C>T	1.37:g.52941198G>A	ENSP00000360599:p.Ser678Leu					ZCCHC11_uc001cty.2_Missense_Mutation_p.S678L|ZCCHC11_uc001ctz.2_Missense_Mutation_p.S678L|ZCCHC11_uc009vze.1_Missense_Mutation_p.S678L|ZCCHC11_uc009vzf.1_Missense_Mutation_p.S437L|ZCCHC11_uc001cub.2_Missense_Mutation_p.S678L	p.S678L	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN			13	2267	-			678			PAP-associated 1.		A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.2033C>T	CCDS30716.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	19.43	3.825637	0.71143	0.002271	0.0	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.49	5.49	0.81192	PAP/25A-associated (1);	0.119924	0.56097	D	0.000040	T	0.77445	0.4131	L	0.42245	1.32	0.80722	D	1	P;P;P	0.45474	0.485;0.859;0.485	B;P;B	0.45753	0.193;0.492;0.266	T	0.78114	-0.2330	10	0.48119	T	0.1	.	19.3625	0.94446	0.0:0.0:1.0:0.0	.	437;678;678	E9PKX1;Q5TAX3-2;Q5TAX3	.;.;TUT4_HUMAN	L	678;678;607;437	ENSP00000257177:S678L;ENSP00000360599:S678L;ENSP00000433486:S607L;ENSP00000435256:S437L	ENSP00000257177:S678L	S	-	2	0	ZCCHC11	52713786	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.225000	0.95219	2.579000	0.87056	0.557000	0.71058	TCA		0.393	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1		XM_038288		8	22	0	0	0	1	0	8	22		
PODN	127435	broad.mit.edu	37	1	53540288	53540288	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:53540288G>C	ENST00000312553.5	+	4	568	c.561G>C	c.(559-561)gaG>gaC	p.E187D	PODN_ENST00000395871.2_Intron|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000371500.3_Missense_Mutation_p.E168D	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	139					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGCTCCCAGAGAAGGCGTTTG	0.607																																						uc001cuv.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(559-561)GAG>GAC		podocan							166.0	164.0	164.0					1																	53540288		2203	4300	6503	SO:0001583	missense	127435				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	g.chr1:53540288G>C	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.561G>C	1.37:g.53540288G>C	ENSP00000308315:p.Glu187Asp					PODN_uc001cuw.2_Missense_Mutation_p.E168D|PODN_uc010onr.1_Missense_Mutation_p.E168D|PODN_uc010ons.1_Intron	p.E187D	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN			4	568	+			139			LRR 2.		B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	c.561G>C	CCDS573.1	.	.	.	.	.	.	.	.	.	.	G	4.842	0.156574	0.09236	.	.	ENSG00000174348	ENST00000371500;ENST00000312553	T;T	0.57107	3.63;0.42	5.65	0.215	0.15253	.	0.053236	0.85682	D	0.000000	T	0.22898	0.0553	N	0.12569	0.235	0.80722	D	1	B;B	0.12630	0.004;0.006	B;B	0.12156	0.005;0.007	T	0.05037	-1.0910	10	0.09843	T	0.71	.	2.3694	0.04327	0.2681:0.1158:0.497:0.119	.	168;187	Q7Z5L7-2;Q7Z5L7-3	.;.	D	168;187	ENSP00000360555:E168D;ENSP00000308315:E187D	ENSP00000308315:E187D	E	+	3	2	PODN	53312876	0.938000	0.31826	0.996000	0.52242	0.996000	0.88848	0.125000	0.15749	0.332000	0.23536	0.655000	0.94253	GAG		0.607	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1		NM_153703		62	212	0	0	0	1	0	62	212		
SLC1A7	6512	broad.mit.edu	37	1	53580452	53580452	+	Missense_Mutation	SNP	C	C	G	rs149844615		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:53580452C>G	ENST00000371494.4	-	3	536	c.409G>C	c.(409-411)Gat>Cat	p.D137H	RP11-334A14.8_ENST00000439621.1_RNA|SLC1A7_ENST00000371491.4_Missense_Mutation_p.D137H	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	137					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		AACAGGGCATCGGCTGAGCTC	0.642																																					NSCLC(128;80 1811 21245 38490 51715)	uc001cuy.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(409-411)GAT>CAT		solute carrier family 1 (glutamate transporter),	L-Glutamic Acid(DB00142)						141.0	116.0	124.0					1																	53580452		2203	4300	6503	SO:0001583	missense	6512					integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr1:53580452C>G	U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.409G>C	1.37:g.53580452C>G	ENSP00000360549:p.Asp137His					SLC1A7_uc001cuz.3_Missense_Mutation_p.D137H|uc001cva.1_RNA	p.D137H	NM_006671	NP_006662	O00341	EAA5_HUMAN		Colorectal(1306;0.234)	3	577	-			137			Extracellular (Potential).		Q5VVZ0|Q969Z8|Q9BW45	Missense_Mutation	SNP	ENST00000371494.4	37	c.409G>C	CCDS574.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836156	0.91117	.	.	ENSG00000162383	ENST00000371494;ENST00000371491	T;T	0.60299	0.2;0.2	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.84051	0.5387	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88784	0.3273	10	0.87932	D	0	0.7924	19.2345	0.93853	0.0:1.0:0.0:0.0	.	137;137	Q9BW45;O00341	.;EAA5_HUMAN	H	137	ENSP00000360549:D137H;ENSP00000360546:D137H	ENSP00000360546:D137H	D	-	1	0	SLC1A7	53353040	1.000000	0.71417	0.663000	0.29738	0.807000	0.45602	7.487000	0.81328	2.550000	0.86006	0.655000	0.94253	GAT		0.642	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1		NM_006671		14	42	0	0	0	1	0	14	42		
TACSTD2	4070	broad.mit.edu	37	1	59042364	59042364	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:59042364G>A	ENST00000371225.2	-	1	802	c.465C>T	c.(463-465)ctC>ctT	p.L155L		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	155					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell motility (GO:2000146)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of stem cell differentiation (GO:2000738)|regulation of epithelial cell proliferation (GO:0050678)|ureteric bud morphogenesis (GO:0060675)|visual perception (GO:0007601)	basal plasma membrane (GO:0009925)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)					all_cancers(7;6.54e-05)					GCAGGTCAATGAGGATGTGGT	0.692																																						uc001cyz.3		NaN																	0					0						c.(463-465)CTC>CTT		tumor-associated calcium signal transducer 2							25.0	24.0	24.0					1																	59042364		2198	4295	6493	SO:0001819	synonymous_variant	4070				cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity	g.chr1:59042364G>A	X77753	CCDS609.1	1p32	2008-02-05			ENSG00000184292	ENSG00000184292			11530	protein-coding gene	gene with protein product		137290		M1S1		8382772, 11306819	Standard	NM_002353		Approved	TROP2, GA733-1, EGP-1	uc001cyz.4	P09758	OTTHUMG00000010067	ENST00000371225.2:c.465C>T	1.37:g.59042364G>A							p.L155L	NM_002353	NP_002344	P09758	TACD2_HUMAN			1	803	-	all_cancers(7;6.54e-05)		155			Extracellular (Potential).		Q15658|Q6FG48|Q7Z7Q4|Q96QD2	Silent	SNP	ENST00000371225.2	37	c.465C>T	CCDS609.1																																																																																				0.692	TACSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027818.1		NM_002353		7	22	0	0	0	1	0	7	22		
FGGY	55277	broad.mit.edu	37	1	59844459	59844459	+	Missense_Mutation	SNP	C	C	A	rs146728237	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:59844459C>A	ENST00000303721.7	+	5	678	c.504C>A	c.(502-504)ttC>ttA	p.F168L	FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Missense_Mutation_p.F80L|FGGY_ENST00000371218.4_Missense_Mutation_p.F168L	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	168					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CGGGACATTTCTTTGATCTCC	0.403																																						uc001czi.3		NaN																	0				ovary(1)	1						c.(502-504)TTC>TTA		FGGY carbohydrate kinase domain containing							119.0	117.0	117.0					1																	59844459		2203	4299	6502	SO:0001583	missense	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:59844459C>A		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.504C>A	1.37:g.59844459C>A	ENSP00000305922:p.Phe168Leu					FGGY_uc001czg.2_Missense_Mutation_p.F56L|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Missense_Mutation_p.F168L|FGGY_uc001czj.3_Missense_Mutation_p.F168L|FGGY_uc001czk.3_Missense_Mutation_p.F56L|FGGY_uc001czl.3_Missense_Mutation_p.F80L	p.F168L	NM_018291	NP_060761	Q96C11	FGGY_HUMAN			5	716	+	all_cancers(7;7.36e-05)		168					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Missense_Mutation	SNP	ENST00000303721.7	37	c.504C>A	CCDS611.2	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556724	0.45487	.	.	ENSG00000172456	ENST00000413489;ENST00000371218;ENST00000303721;ENST00000371212	T;T;T;T	0.61040	0.68;0.68;0.68;0.14	5.54	3.55	0.40652	Carbohydrate kinase, FGGY, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58623	0.2135	M	0.78223	2.4	0.80722	D	1	B;B;B;B	0.21309	0.018;0.054;0.041;0.041	B;B;B;B	0.30716	0.044;0.028;0.119;0.119	T	0.57734	-0.7760	9	.	.	.	-15.0397	10.9133	0.47120	0.0:0.8349:0.0:0.1651	.	168;80;168;168	Q96C11-3;B1AK94;F2Z2V1;Q96C11	.;.;.;FGGY_HUMAN	L	168;168;168;80	ENSP00000406607:F168L;ENSP00000360262:F168L;ENSP00000305922:F168L;ENSP00000360256:F80L	.	F	+	3	2	FGGY	59617047	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.934000	0.48956	1.580000	0.49851	0.650000	0.86243	TTC		0.403	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2		NM_001113411		13	57	1	0	2.61681e-11	1	2.73642e-11	13	57		
INADL	10207	broad.mit.edu	37	1	62483543	62483543	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:62483543C>T	ENST00000371158.2	+	29	3997	c.3883C>T	c.(3883-3885)Ctg>Ttg	p.L1295L	INADL_ENST00000545929.1_Intron|INADL_ENST00000316485.6_Silent_p.L1295L|INADL_ENST00000543708.1_Silent_p.L79L	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1295	PDZ 7. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CAATCAGATTCTGTATGGAAG	0.338																																						uc001dab.2		NaN																	0				ovary(3)|skin(1)	4						c.(3883-3885)CTG>TTG		InaD-like							120.0	110.0	113.0					1																	62483543		2203	4300	6503	SO:0001819	synonymous_variant	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62483543C>T	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3883C>T	1.37:g.62483543C>T						INADL_uc009waf.1_Silent_p.L1295L|INADL_uc001daa.2_Silent_p.L1295L|INADL_uc001dad.3_Silent_p.L992L|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Silent_p.L79L|INADL_uc009wag.2_Silent_p.L79L|INADL_uc010oou.1_Intron	p.L1295L	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			29	3997	+			1295			PDZ 7.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	c.3883C>T	CCDS617.2																																																																																				0.338	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2		NM_170605		25	53	0	0	0	1	0	25	53		
FAM73A	374986	broad.mit.edu	37	1	78269066	78269066	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:78269066C>G	ENST00000370791.3	+	4	517	c.485C>G	c.(484-486)tCa>tGa	p.S162*	FAM73A_ENST00000443751.2_Nonsense_Mutation_p.S124*	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	162						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		AGTAAATATTCAGGTTCTGCA	0.308																																						uc001dhx.2		NaN																	0				ovary(1)	1						c.(484-486)TCA>TGA		hypothetical protein LOC374986							54.0	52.0	53.0					1																	78269066		2202	4296	6498	SO:0001587	stop_gained	374986					integral to membrane		g.chr1:78269066C>G		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.485C>G	1.37:g.78269066C>G	ENSP00000359827:p.Ser162*					FAM73A_uc010ork.1_Nonsense_Mutation_p.S162*|FAM73A_uc010orl.1_Nonsense_Mutation_p.S124*|FAM73A_uc001dhy.1_5'UTR	p.S162*	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN		Colorectal(170;0.226)	4	517	+			162					Q6MZG0	Nonsense_Mutation	SNP	ENST00000370791.3	37	c.485C>G	CCDS681.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761180	0.89932	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	.	.	.	4.92	4.92	0.64577	.	0.060640	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.4145	18.4968	0.90867	0.0:1.0:0.0:0.0	.	.	.	.	X	162;124	.	ENSP00000359827:S162X	S	+	2	0	FAM73A	78041654	1.000000	0.71417	0.994000	0.49952	0.346000	0.29079	5.475000	0.66787	2.461000	0.83175	0.650000	0.86243	TCA		0.308	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1		NM_198549		10	36	0	0	0	1	0	10	36		
CLCA1	1179	broad.mit.edu	37	1	86952367	86952367	+	Silent	SNP	C	C	T	rs184789973		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:86952367C>T	ENST00000234701.3	+	8	1464	c.1113C>T	c.(1111-1113)ctC>ctT	p.L371L	CLCA1_ENST00000394711.1_Silent_p.L371L			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	371	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GGGACACACTCGCCAAAAGAT	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		19332	0.0		0.001	False		,,,				2504	0.0					uc001dlt.2		NaN																	0				ovary(1)	1						c.(1111-1113)CTC>CTT		chloride channel accessory 1 precursor							121.0	114.0	116.0					1																	86952367		2203	4300	6503	SO:0001819	synonymous_variant	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86952367C>T		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1113C>T	1.37:g.86952367C>T						CLCA1_uc001dls.1_Silent_p.L310L	p.L371L	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	7	1242	+		Lung NSC(277;0.239)	371			VWFA.		B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Silent	SNP	ENST00000234701.3	37	c.1113C>T	CCDS709.1																																																																																				0.488	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1		NM_001285		31	82	0	0	0	1	0	31	82		
TGFBR3	7049	broad.mit.edu	37	1	92177859	92177859	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:92177859G>C	ENST00000525962.1	-	12	2168	c.2107C>G	c.(2107-2109)Cta>Gta	p.L703V	TGFBR3_ENST00000370399.2_Missense_Mutation_p.L702V|TGFBR3_ENST00000212355.4_Missense_Mutation_p.L703V			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	703	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TCACACTGTAGAAAGAGCAGT	0.488																																						uc001doh.2		NaN																	0				ovary(3)	3						c.(2107-2109)CTA>GTA		transforming growth factor, beta receptor III							107.0	101.0	103.0					1																	92177859		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92177859G>C	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.2107C>G	1.37:g.92177859G>C	ENSP00000436127:p.Leu703Val					TGFBR3_uc009wde.2_Intron|TGFBR3_uc010osy.1_Missense_Mutation_p.L661V|TGFBR3_uc001doi.2_Missense_Mutation_p.L702V|TGFBR3_uc001doj.2_Missense_Mutation_p.L702V	p.L703V	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	13	2573	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	703			ZP.|Extracellular (Potential).		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.2107C>G	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354038	0.61293	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	6.16	4.28	0.50868	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.000000	0.64402	D	0.000001	D	0.88485	0.6449	M	0.80183	2.485	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.87578	0.993;0.998	D	0.89284	0.3614	9	.	.	.	-13.6453	13.1053	0.59244	0.1303:0.0:0.8697:0.0	.	702;703	Q03167-2;Q03167	.;TGBR3_HUMAN	V	703;702;703;702	ENSP00000212355:L703V;ENSP00000359426:L702V;ENSP00000436127:L703V;ENSP00000432638:L702V	.	L	-	1	2	TGFBR3	91950447	1.000000	0.71417	0.713000	0.30519	0.661000	0.39034	5.098000	0.64548	1.616000	0.50265	0.650000	0.86243	CTA		0.488	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1		NM_003243		16	53	0	0	0	1	0	16	53		
GLMN	11146	broad.mit.edu	37	1	92752071	92752071	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:92752071G>A	ENST00000370360.3	-	7	792	c.711C>T	c.(709-711)ttC>ttT	p.F237F	GLMN_ENST00000534881.1_Silent_p.F237F	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	237					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		CAAAATACCTGAAAGGATCAT	0.333									Multiple Glomus Tumors (of the Skin), Familial																													uc001dor.2		NaN																	0				skin(1)	1						c.(709-711)TTC>TTT		glomulin							93.0	95.0	94.0					1																	92752071		2203	4300	6503	SO:0001819	synonymous_variant	11146	Multiple_Glomus_Tumors_(of_the_Skin)_Familial	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding	g.chr1:92752071G>A	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.711C>T	1.37:g.92752071G>A						GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Silent_p.F237F	p.F237F	NM_053274	NP_444504	Q92990	GLMN_HUMAN		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)	7	826	-		all_lung(203;0.00827)|Lung NSC(277;0.0295)	237					Q5VVC3|Q9BVE8	Silent	SNP	ENST00000370360.3	37	c.711C>T	CCDS738.1																																																																																				0.333	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1		NM_007070		16	38	0	0	0	1	0	16	38		
GLMN	11146	broad.mit.edu	37	1	92752143	92752143	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:92752143G>A	ENST00000370360.3	-	7	720	c.639C>T	c.(637-639)ttC>ttT	p.F213F	GLMN_ENST00000534881.1_Silent_p.F213F	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	213					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TCAAGCTTTTGAAACAACTAA	0.318									Multiple Glomus Tumors (of the Skin), Familial																													uc001dor.2		NaN																	0				skin(1)	1						c.(637-639)TTC>TTT		glomulin							79.0	80.0	79.0					1																	92752143		2203	4300	6503	SO:0001819	synonymous_variant	11146	Multiple_Glomus_Tumors_(of_the_Skin)_Familial	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding	g.chr1:92752143G>A	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.639C>T	1.37:g.92752143G>A						GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Silent_p.F213F	p.F213F	NM_053274	NP_444504	Q92990	GLMN_HUMAN		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)	7	754	-		all_lung(203;0.00827)|Lung NSC(277;0.0295)	213					Q5VVC3|Q9BVE8	Silent	SNP	ENST00000370360.3	37	c.639C>T	CCDS738.1																																																																																				0.318	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1		NM_007070		14	40	0	0	0	1	0	14	40		
EVI5	7813	broad.mit.edu	37	1	92979392	92979392	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:92979392C>T	ENST00000370331.1	-	18	2263	c.2254G>A	c.(2254-2256)Gaa>Aaa	p.E752K	EVI5_ENST00000540033.1_Missense_Mutation_p.E752K|EVI5_ENST00000543509.1_Missense_Mutation_p.E763K	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	752	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		ACACCAGTTTCCTGTAAGGAA	0.428																																						uc001dox.2		NaN																	0				ovary(1)|breast(1)	2						c.(2254-2256)GAA>AAA		ecotropic viral integration site 5							68.0	72.0	70.0					1																	92979392		2203	4300	6503	SO:0001583	missense	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:92979392C>T	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.2254G>A	1.37:g.92979392C>T	ENSP00000359356:p.Glu752Lys					EVI5_uc010otf.1_Missense_Mutation_p.E763K	p.E752K	NM_005665	NP_005656	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	18	2264	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	752			Targeting to the centrosomes.|Interaction with AURKB and INCENP.		A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	37	c.2254G>A	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075070	0.55646	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	T;T;T	0.05580	3.42;3.42;3.42	5.91	5.91	0.95273	.	0.160142	0.40222	N	0.001144	T	0.01765	0.0056	N	0.22421	0.69	0.40681	D	0.982307	P;B	0.37015	0.578;0.442	B;B	0.29942	0.109;0.05	T	0.42916	-0.9423	10	0.07325	T	0.83	-10.2368	18.4823	0.90817	0.0:1.0:0.0:0.0	.	763;752	F5H4R0;O60447	.;EVI5_HUMAN	K	752;752;763	ENSP00000359356:E752K;ENSP00000440826:E752K;ENSP00000445019:E763K	ENSP00000359356:E752K	E	-	1	0	EVI5	92751980	0.999000	0.42202	0.434000	0.26772	0.838000	0.47535	3.790000	0.55461	2.799000	0.96334	0.650000	0.86243	GAA		0.428	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1		NM_005665		17	81	0	0	0	1	0	17	81		
ARHGAP29	9411	broad.mit.edu	37	1	94668138	94668138	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:94668138C>G	ENST00000260526.6	-	11	1287	c.1105G>C	c.(1105-1107)Gaa>Caa	p.E369Q	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.E369Q	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	369					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)			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)		CGCTTTTTTTCTAGTTGCTTG	0.393																																						uc001dqj.3		NaN																	0				breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11						c.(1105-1107)GAA>CAA		PTPL1-associated RhoGAP 1							115.0	114.0	114.0					1																	94668138		2203	4300	6503	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94668138C>G		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.1105G>C	1.37:g.94668138C>G	ENSP00000260526:p.Glu369Gln					ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dql.2_Missense_Mutation_p.E369Q	p.E369Q	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	11	1474	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	369			Potential.		O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.1105G>C	CCDS748.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986530	0.93106	.	.	ENSG00000137962	ENST00000260526;ENST00000370217	T;T	0.52057	0.68;0.68	5.77	5.77	0.91146	.	0.000000	0.39407	N	0.001368	T	0.70622	0.3245	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	T	0.73257	-0.4040	10	0.72032	D	0.01	-27.2878	20.3627	0.98863	0.0:1.0:0.0:0.0	.	369;369	Q52LW3-2;Q52LW3	.;RHG29_HUMAN	Q	369	ENSP00000260526:E369Q;ENSP00000359237:E369Q	ENSP00000260526:E369Q	E	-	1	0	ARHGAP29	94440726	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.054000	0.76649	2.885000	0.99019	0.655000	0.94253	GAA		0.393	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2		NM_004815		29	89	0	0	0	1	0	29	89		
DPYD	1806	broad.mit.edu	37	1	97915689	97915689	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:97915689C>T	ENST00000370192.3	-	14	1931	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	611					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CTGATGAGCTCAATATTCAGA	0.448																																						uc001drv.2		NaN																	0				ovary(3)|skin(3)|breast(2)	8						c.(1831-1833)GAG>AAG		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						131.0	124.0	126.0					1																	97915689		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97915689C>T	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1831G>A	1.37:g.97915689C>T	ENSP00000359211:p.Glu611Lys						p.E611K	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	14	1968	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	611					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.1831G>A	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338601	0.81911	.	.	ENSG00000188641	ENST00000370192	D	0.84800	-1.9	5.31	5.31	0.75309	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.92057	0.7483	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92664	0.6144	10	0.72032	D	0.01	-16.8517	18.9863	0.92771	0.0:1.0:0.0:0.0	.	611	Q12882	DPYD_HUMAN	K	611	ENSP00000359211:E611K	ENSP00000359211:E611K	E	-	1	0	DPYD	97688277	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.508000	0.84585	0.467000	0.42956	GAG		0.448	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3		NM_000110		19	81	0	0	0	1	0	19	81		
AGL	178	broad.mit.edu	37	1	100357997	100357997	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:100357997G>C	ENST00000294724.4	+	24	3571	c.3093G>C	c.(3091-3093)caG>caC	p.Q1031H	AGL_ENST00000361522.4_Missense_Mutation_p.Q1014H|AGL_ENST00000361302.3_Missense_Mutation_p.Q1015H|AGL_ENST00000370165.3_Missense_Mutation_p.Q1031H|AGL_ENST00000370163.3_Missense_Mutation_p.Q1031H|AGL_ENST00000370161.2_Missense_Mutation_p.Q1015H|AGL_ENST00000361915.3_Missense_Mutation_p.Q1031H	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1031					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)			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)		GCTTTGTTCAGAATGGTTCAA	0.348																																						uc001dsi.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3091-3093)CAG>CAC		amylo-1,6-glucosidase,							84.0	82.0	83.0					1																	100357997		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.chr1:100357997G>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.3093G>C	1.37:g.100357997G>C	ENSP00000294724:p.Gln1031His					AGL_uc001dsj.1_Missense_Mutation_p.Q1031H|AGL_uc001dsk.1_Missense_Mutation_p.Q1031H|AGL_uc001dsl.1_Missense_Mutation_p.Q1031H|AGL_uc001dsm.1_Missense_Mutation_p.Q1015H|AGL_uc001dsn.1_Missense_Mutation_p.Q1014H	p.Q1031H	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)	24	3493	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1031			4-alpha-glucanotransferase.		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.3093G>C	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.224245	0.39300	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86	5.37	4.44	0.53790	.	0.267468	0.39687	N	0.001291	T	0.61974	0.2390	M	0.62723	1.935	0.58432	D	0.999994	B;B;B	0.10296	0.003;0.003;0.002	B;B;B	0.15484	0.013;0.013;0.006	T	0.63413	-0.6643	10	0.45353	T	0.12	-9.9714	14.9837	0.71330	0.0722:0.0:0.9278:0.0	.	1014;1015;1031	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	H	1031;1031;1031;1031;1015;1015;1014	ENSP00000355106:Q1031H;ENSP00000359184:Q1031H;ENSP00000359182:Q1031H;ENSP00000294724:Q1031H;ENSP00000354971:Q1015H;ENSP00000359180:Q1015H;ENSP00000354635:Q1014H	ENSP00000294724:Q1031H	Q	+	3	2	AGL	100130585	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	4.278000	0.58946	2.661000	0.90470	0.573000	0.79308	CAG		0.348	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1		NM_000028		9	47	0	0	0	1	0	9	47		
SLC35A3	23443	broad.mit.edu	37	1	100464840	100464840	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:100464840C>G	ENST00000370155.3	+	3	603	c.211C>G	c.(211-213)Cga>Gga	p.R71G	RNU6-1318P_ENST00000365389.1_RNA|SLC35A3_ENST00000465289.1_Missense_Mutation_p.R71G|SLC35A3_ENST00000370153.1_Missense_Mutation_p.R113G|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000427993.2_Missense_Mutation_p.R71G	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	71					transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine metabolic process (GO:0006047)|UDP-N-acetylglucosamine transport (GO:0015788)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)|UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		AGCACTGAATCGAGTACTACA	0.308																																					Ovarian(7;298 356 944 2149 6911)	uc001dsp.1		NaN																	0					0						c.(211-213)CGA>GGA		solute carrier family 35 member 3A							63.0	68.0	66.0					1																	100464840		2202	4287	6489	SO:0001583	missense	23443				UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity	g.chr1:100464840C>G	AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620		"""Solute carriers"""	11023	protein-coding gene	gene with protein product		605632	"""solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3"""			10393322	Standard	NM_001271685		Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000370155.3:c.211C>G	1.37:g.100464840C>G	ENSP00000359174:p.Arg71Gly					SLC35A3_uc001dsq.1_Missense_Mutation_p.R71G|SLC35A3_uc009wdy.1_Missense_Mutation_p.R71G|SLC35A3_uc001dsr.1_Missense_Mutation_p.R113G|SLC35A3_uc001dss.1_Translation_Start_Site	p.R71G	NM_012243	NP_036375	Q9Y2D2	S35A3_HUMAN		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)	3	408	+		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	71					A8K3F8|D3DT54|Q68CR2|Q9BSB7	Missense_Mutation	SNP	ENST00000370155.3	37	c.211C>G	CCDS762.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998438	0.35226	.	.	ENSG00000117620	ENST00000370155;ENST00000465289;ENST00000427993;ENST00000532693;ENST00000370153;ENST00000422078	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.67	1.19	0.21007	.	0.048707	0.85682	D	0.000000	T	0.13157	0.0319	L	0.31120	0.905	0.37199	D	0.904273	B;B;B	0.15473	0.013;0.004;0.001	B;B;B	0.18871	0.023;0.01;0.009	T	0.06127	-1.0844	10	0.21014	T	0.42	-0.9131	5.7905	0.18357	0.5211:0.3073:0.0:0.1716	.	71;112;71	Q9BSB7;Q9Y2D2-2;Q9Y2D2	.;.;S35A3_HUMAN	G	71;71;71;71;113;71	ENSP00000359174:R71G;ENSP00000418527:R71G;ENSP00000414947:R71G;ENSP00000359172:R113G;ENSP00000401679:R71G	ENSP00000359172:R113G	R	+	1	2	SLC35A3	100237428	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	1.175000	0.31944	0.308000	0.22923	0.655000	0.94253	CGA		0.308	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000029783.1		NM_012243		14	25	0	0	0	1	0	14	25		
GPR88	54112	broad.mit.edu	37	1	101004970	101004970	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:101004970C>G	ENST00000315033.4	+	2	887	c.448C>G	c.(448-450)Cag>Gag	p.Q150E		NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN	G protein-coupled receptor 88	150					G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuronal action potential (GO:0019228)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		CGCCACCTACCAGGCGCTGTA	0.741																																						uc001dth.2		NaN																	0					0						c.(448-450)CAG>GAG		G-protein coupled receptor 88							10.0	13.0	12.0					1																	101004970		2076	4234	6310	SO:0001583	missense	54112					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:101004970C>G	AB042411	CCDS772.1	1p21.3	2012-08-21	2006-02-15		ENSG00000181656	ENSG00000181656		"""GPCR / Class A : Orphans"""	4539	protein-coding gene	gene with protein product		607468	"""G-protein coupled receptor 88"", ""G protein coupled receptor 88"""				Standard	NM_022049		Approved		uc001dth.3	Q9GZN0	OTTHUMG00000010981	ENST00000315033.4:c.448C>G	1.37:g.101004970C>G	ENSP00000314223:p.Gln150Glu						p.Q150E	NM_022049	NP_071332	Q9GZN0	GPR88_HUMAN		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)	2	852	+		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)	150			Cytoplasmic (Potential).		Q29S24|Q6VN48	Missense_Mutation	SNP	ENST00000315033.4	37	c.448C>G	CCDS772.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788571	0.31685	.	.	ENSG00000181656	ENST00000315033	T	0.71579	-0.58	4.62	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.142437	0.31381	U	0.007741	T	0.53222	0.1783	N	0.22421	0.69	0.40532	D	0.980949	P	0.46784	0.884	P	0.48627	0.584	T	0.52510	-0.8566	10	0.18276	T	0.48	-8.4928	17.7289	0.88372	0.0:1.0:0.0:0.0	.	150	Q9GZN0	GPR88_HUMAN	E	150	ENSP00000314223:Q150E	ENSP00000314223:Q150E	Q	+	1	0	GPR88	100777558	1.000000	0.71417	1.000000	0.80357	0.244000	0.25665	4.119000	0.57891	2.401000	0.81631	0.558000	0.71614	CAG		0.741	GPR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030212.1		NM_022049		3	17	0	0	0	1	0	3	17		
WDR47	22911	broad.mit.edu	37	1	109517317	109517317	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:109517317C>T	ENST00000369962.3	-	14	2680	c.2458G>A	c.(2458-2460)Gaa>Aaa	p.E820K	WDR47_ENST00000400794.3_Missense_Mutation_p.E828K|WDR47_ENST00000369965.4_Missense_Mutation_p.E821K|WDR47_ENST00000361054.3_Missense_Mutation_p.E792K|WDR47_ENST00000357672.3_Missense_Mutation_p.E792K			O94967	WDR47_HUMAN	WD repeat domain 47	820					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CTAGAATCTTCTTGACCTGTG	0.438																																						uc001dwj.2		NaN																	0				ovary(1)	1						c.(2458-2460)GAA>AAA		WD repeat domain 47 isoform 3							114.0	98.0	103.0					1																	109517317		2203	4300	6503	SO:0001583	missense	22911							g.chr1:109517317C>T	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.2458G>A	1.37:g.109517317C>T	ENSP00000358979:p.Glu820Lys					WDR47_uc001dwl.2_Missense_Mutation_p.E828K|WDR47_uc001dwi.2_Missense_Mutation_p.E821K|WDR47_uc010ovf.1_Missense_Mutation_p.E745K	p.E820K	NM_001142551	NP_001136023	O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	14	2834	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	820			WD 5.		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	c.2458G>A	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866140	0.91511	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	5.27	4.34	0.51931	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.052321	0.64402	D	0.000001	T	0.60444	0.2269	L	0.43598	1.365	0.80722	D	1	D;D;D;D	0.89917	0.995;1.0;0.999;0.995	D;D;D;D	0.87578	0.96;0.998;0.996;0.948	T	0.63690	-0.6580	10	0.46703	T	0.11	-16.1643	15.6625	0.77199	0.0:0.8624:0.1376:0.0	.	792;828;820;821	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	K	828;820;792;821;792	ENSP00000383599:E828K;ENSP00000358979:E820K;ENSP00000354339:E792K;ENSP00000358982:E821K;ENSP00000350301:E792K	ENSP00000350301:E792K	E	-	1	0	WDR47	109318840	1.000000	0.71417	0.983000	0.44433	0.885000	0.51271	7.446000	0.80609	1.164000	0.42652	0.655000	0.94253	GAA		0.438	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2		NM_014969		7	19	0	0	0	1	0	7	19		
CELSR2	1952	broad.mit.edu	37	1	109794764	109794764	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:109794764C>T	ENST00000271332.3	+	1	2124	c.2063C>T	c.(2062-2064)tCc>tTc	p.S688F		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	688	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTTACCGCCTCCGATGGCACT	0.557																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NaN																	0				ovary(4)|lung(3)|skin(1)	8						c.(2062-2064)TCC>TTC		cadherin EGF LAG seven-pass G-type receptor 2							107.0	103.0	104.0					1																	109794764		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109794764C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2063C>T	1.37:g.109794764C>T	ENSP00000271332:p.Ser688Phe						p.S688F	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	2124	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	688			Cadherin 5.|Extracellular (Potential).		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.2063C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	14.45	2.540164	0.45176	.	.	ENSG00000143126	ENST00000271332	T	0.01871	4.59	4.95	4.95	0.65309	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.05686	0.0149	L	0.46670	1.46	0.45354	D	0.998348	D	0.89917	1.0	D	0.97110	1.0	T	0.50980	-0.8763	9	0.45353	T	0.12	.	18.4313	0.90627	0.0:1.0:0.0:0.0	.	688	Q9HCU4	CELR2_HUMAN	F	688	ENSP00000271332:S688F	ENSP00000271332:S688F	S	+	2	0	CELSR2	109596287	1.000000	0.71417	0.955000	0.39395	0.631000	0.37964	5.725000	0.68507	2.600000	0.87896	0.650000	0.86243	TCC		0.557	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1		NM_001408		40	65	0	0	0	1	0	40	65		
SORT1	6272	broad.mit.edu	37	1	109865577	109865577	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:109865577G>C	ENST00000256637.6	-	15	2059	c.2001C>G	c.(1999-2001)ctC>ctG	p.L667L	SORT1_ENST00000538502.1_Silent_p.L530L	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	667	Interactions with LRPAP1 and NGFB.				endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		CCAGGGAACAGAGGCAGATGG	0.488																																						uc001dxm.1		NaN																	0				ovary(1)	1						c.(1999-2001)CTC>CTG		sortilin 1 preproprotein							91.0	83.0	86.0					1																	109865577		2203	4300	6503	SO:0001819	synonymous_variant	6272				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	g.chr1:109865577G>C	BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.2001C>G	1.37:g.109865577G>C						SORT1_uc010ovi.1_Silent_p.L530L	p.L667L	NM_002959	NP_002950	Q99523	SORT_HUMAN		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)	15	2050	-		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	667			Interactions with LRPAP1 and NGFB.|Extracellular (Potential).		B4DWI3|C0JYZ0|Q8IZ49	Silent	SNP	ENST00000256637.6	37	c.2001C>G	CCDS798.1																																																																																				0.488	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1		NM_002959		11	43	0	0	0	1	0	11	43		
LRIF1	55791	broad.mit.edu	37	1	111492647	111492647	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:111492647C>T	ENST00000369763.4	-	3	2085	c.1695G>A	c.(1693-1695)aaG>aaA	p.K565K	LRIF1_ENST00000485275.2_Silent_p.K29K|LRIF1_ENST00000494675.1_Silent_p.K29K|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CAGCATCACTCTTCAGATGTA	0.383																																						uc001eaa.2		NaN																	0					0						c.(1693-1695)AAG>AAA		receptor-interacting factor 1 isoform 1							130.0	118.0	122.0					1																	111492647		2203	4300	6503	SO:0001819	synonymous_variant	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111492647C>T	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1695G>A	1.37:g.111492647C>T						C1orf103_uc001dzz.2_Silent_p.K29K|C1orf103_uc001eab.2_Silent_p.K29K|C1orf103_uc001eac.1_Silent_p.K29K	p.K565K	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)	3	1951	-		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)	565					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Silent	SNP	ENST00000369763.4	37	c.1695G>A	CCDS30800.1																																																																																				0.383	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2		NM_018372		16	61	0	0	0	1	0	16	61		
DENND2D	79961	broad.mit.edu	37	1	111734819	111734819	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:111734819G>A	ENST00000357640.4	-	8	1144	c.915C>T	c.(913-915)ttC>ttT	p.F305F	DENND2D_ENST00000473682.1_5'Flank|DENND2D_ENST00000369752.5_Silent_p.F302F	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	305	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		CTCCAACCATGAAGGGGGTGG	0.572																																						uc001eak.1		NaN																	0				ovary(1)	1						c.(913-915)TTC>TTT		DENN/MADD domain containing 2D							79.0	74.0	75.0					1																	111734819		2203	4300	6503	SO:0001819	synonymous_variant	79961							g.chr1:111734819G>A		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.915C>T	1.37:g.111734819G>A						DENND2D_uc001eal.1_Silent_p.F302F	p.F305F	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	8	1115	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	305			DENN.		Q5T5V6|Q9BSU0	Silent	SNP	ENST00000357640.4	37	c.915C>T	CCDS831.1																																																																																				0.572	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1		NM_024901		17	52	0	0	0	1	0	17	52		
MOV10	4343	broad.mit.edu	37	1	113241408	113241408	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:113241408G>C	ENST00000413052.2	+	17	2970	c.2580G>C	c.(2578-2580)ttG>ttC	p.L860F	MOV10_ENST00000369645.1_Missense_Mutation_p.L860F|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369644.1_Missense_Mutation_p.L804F|MOV10_ENST00000357443.2_Missense_Mutation_p.L860F|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	860					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TCAAGGACTTGAAGGTGACAT	0.557																																						uc001eck.2		NaN																	0				ovary(4)|skin(1)	5						c.(2578-2580)TTG>TTC		Mov10, Moloney leukemia virus 10, homolog							291.0	255.0	267.0					1																	113241408		2203	4300	6503	SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113241408G>C	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2580G>C	1.37:g.113241408G>C	ENSP00000399797:p.Leu860Phe					MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.L860F|MOV10_uc001ecm.2_Missense_Mutation_p.L800F	p.L860F	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	17	2850	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	860					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.2580G>C	CCDS853.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748208	0.69533	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12	4.96	2.05	0.26809	.	0.238965	0.35870	N	0.002930	D	0.88720	0.6513	M	0.73319	2.225	0.80722	D	1	P	0.42649	0.786	P	0.48089	0.566	D	0.86306	0.1683	10	0.59425	D	0.04	-8.3613	7.9337	0.29918	0.2655:0.0:0.7345:0.0	.	860	Q9HCE1	MOV10_HUMAN	F	860;860;804;860;798	ENSP00000399797:L860F;ENSP00000358659:L860F;ENSP00000358658:L804F;ENSP00000350028:L860F	ENSP00000350028:L860F	L	+	3	2	MOV10	113042931	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	1.794000	0.38774	0.150000	0.19136	0.313000	0.20887	TTG		0.557	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1		NM_020963		52	166	0	0	0	1	0	52	166		
MOV10	4343	broad.mit.edu	37	1	113242322	113242322	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:113242322G>A	ENST00000413052.2	+	18	2989	c.2599G>A	c.(2599-2601)Gaa>Aaa	p.E867K	MOV10_ENST00000369645.1_Missense_Mutation_p.E867K|RP11-426L16.10_ENST00000471038.2_5'Flank|MOV10_ENST00000369644.1_Missense_Mutation_p.E811K|MOV10_ENST00000357443.2_Missense_Mutation_p.E867K|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	867					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TTCAGTAGAAGAATTCCAAGG	0.562																																						uc001eck.2		NaN																	0				ovary(4)|skin(1)	5						c.(2599-2601)GAA>AAA		Mov10, Moloney leukemia virus 10, homolog							122.0	123.0	123.0					1																	113242322		2203	4300	6503	SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113242322G>A	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2599G>A	1.37:g.113242322G>A	ENSP00000399797:p.Glu867Lys					MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.E867K|MOV10_uc001ecm.2_Missense_Mutation_p.E807K	p.E867K	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	18	2869	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	867					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.2599G>A	CCDS853.1	.	.	.	.	.	.	.	.	.	.	G	36	5.617786	0.96649	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	4.96	4.96	0.65561	.	0.050574	0.85682	N	0.000000	D	0.89979	0.6872	N	0.21324	0.655	0.80722	D	1	P	0.42649	0.786	P	0.58130	0.833	D	0.90636	0.4571	10	0.41790	T	0.15	-18.1859	15.9968	0.80256	0.0:0.0:1.0:0.0	.	867	Q9HCE1	MOV10_HUMAN	K	867;867;811;867;805	ENSP00000399797:E867K;ENSP00000358659:E867K;ENSP00000358658:E811K;ENSP00000350028:E867K	ENSP00000350028:E867K	E	+	1	0	MOV10	113043845	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	8.014000	0.88676	2.311000	0.77944	0.467000	0.42956	GAA		0.562	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1		NM_020963		36	142	0	0	0	1	0	36	142		
MOV10	4343	broad.mit.edu	37	1	113242368	113242368	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:113242368G>A	ENST00000413052.2	+	18	3035	c.2645G>A	c.(2644-2646)cGa>cAa	p.R882Q	MOV10_ENST00000369645.1_Missense_Mutation_p.R882Q|RP11-426L16.10_ENST00000471038.2_5'Flank|MOV10_ENST00000369644.1_Missense_Mutation_p.R826Q|MOV10_ENST00000357443.2_Missense_Mutation_p.R882Q|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	882					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TCCACCGTGCGAAGCAGCCAG	0.552																																						uc001eck.2		NaN																	0				ovary(4)|skin(1)	5						c.(2644-2646)CGA>CAA		Mov10, Moloney leukemia virus 10, homolog							152.0	158.0	156.0					1																	113242368		2203	4300	6503	SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113242368G>A	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2645G>A	1.37:g.113242368G>A	ENSP00000399797:p.Arg882Gln					MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.R882Q|MOV10_uc001ecm.2_Missense_Mutation_p.R822Q	p.R882Q	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	18	2915	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	882					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.2645G>A	CCDS853.1	.	.	.	.	.	.	.	.	.	.	G	36	5.797959	0.96952	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05	5.1	5.1	0.69264	.	0.057790	0.64402	D	0.000001	D	0.98861	0.9615	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99761	1.1021	10	0.87932	D	0	-9.9439	18.109	0.89529	0.0:0.0:1.0:0.0	.	882	Q9HCE1	MOV10_HUMAN	Q	882;882;826;882;820	ENSP00000399797:R882Q;ENSP00000358659:R882Q;ENSP00000358658:R826Q;ENSP00000350028:R882Q	ENSP00000350028:R882Q	R	+	2	0	MOV10	113043891	1.000000	0.71417	0.980000	0.43619	0.925000	0.55904	9.866000	0.99616	2.370000	0.80446	0.467000	0.42956	CGA		0.552	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1		NM_020963		54	171	0	0	0	1	0	54	171		
MAGI3	260425	broad.mit.edu	37	1	114189165	114189165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:114189165C>T	ENST00000307546.9	+	12	2131	c.2056C>T	c.(2056-2058)Cag>Tag	p.Q686*	MAGI3_ENST00000369611.4_Nonsense_Mutation_p.Q686*|MAGI3_ENST00000369617.4_Nonsense_Mutation_p.Q711*|MAGI3_ENST00000369615.1_Nonsense_Mutation_p.Q686*	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	711					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCTATTCCTCAGCCTATGCC	0.383																																						uc001edk.2		NaN																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(2056-2058)CAG>TAG		membrane-associated guanylate kinase-related  3							111.0	111.0	111.0					1																	114189165		2203	4300	6503	SO:0001587	stop_gained	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114189165C>T	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2056C>T	1.37:g.114189165C>T	ENSP00000304604:p.Gln686*					MAGI3_uc001edh.3_Nonsense_Mutation_p.Q711*|MAGI3_uc001edi.3_Nonsense_Mutation_p.Q686*|MAGI3_uc010owm.1_Nonsense_Mutation_p.Q711*|MAGI3_uc001edj.2_Nonsense_Mutation_p.Q407*	p.Q686*	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	2237	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	711					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Nonsense_Mutation	SNP	ENST00000307546.9	37	c.2056C>T	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	C	38	6.766097	0.97821	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	.	.	.	5.25	5.25	0.73442	.	0.058331	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-5.5205	18.8479	0.92215	0.0:1.0:0.0:0.0	.	.	.	.	X	711;686;686;686	.	ENSP00000304604:Q686X	Q	+	1	0	MAGI3	113990688	0.975000	0.34042	0.992000	0.48379	0.508000	0.34012	2.463000	0.45058	2.451000	0.82905	0.462000	0.41574	CAG		0.383	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1		NM_152900		8	45	0	0	0	1	0	8	45		
MAGI3	260425	broad.mit.edu	37	1	114226163	114226163	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:114226163G>A	ENST00000307546.9	+	21	4048	c.3973G>A	c.(3973-3975)Gag>Aag	p.E1325K	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1350					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTAATGCTGAGCAGATCCC	0.423																																						uc001edk.2		NaN																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(3973-3975)GAG>AAG		membrane-associated guanylate kinase-related  3							136.0	122.0	126.0					1																	114226163		1568	3582	5150	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114226163G>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3973G>A	1.37:g.114226163G>A	ENSP00000304604:p.Glu1325Lys					MAGI3_uc001edi.3_3'UTR|MAGI3_uc010owm.1_3'UTR|MAGI3_uc001edj.2_3'UTR|MAGI3_uc009wgo.2_RNA	p.E1325K	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	21	4154	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	1350					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.3973G>A	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843678	0.51164	.	.	ENSG00000081026	ENST00000307546;ENST00000546156	T	0.54675	0.56	5.71	4.79	0.61399	.	0.663319	0.14785	N	0.298575	T	0.23965	0.0580	L	0.27053	0.805	0.35395	D	0.791066	B	0.20052	0.041	B	0.17722	0.019	T	0.04870	-1.0921	10	0.26408	T	0.33	-13.8485	14.7088	0.69211	0.0:0.1448:0.8552:0.0	.	1325	Q5TCQ9-4	.	K	1325;365	ENSP00000304604:E1325K	ENSP00000304604:E1325K	E	+	1	0	MAGI3	114027686	0.964000	0.33143	0.393000	0.26258	0.019000	0.09904	2.700000	0.47085	1.390000	0.46547	0.460000	0.39030	GAG		0.423	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1		NM_152900		18	52	0	0	0	1	0	18	52		
TRIM33	51592	broad.mit.edu	37	1	114976330	114976330	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:114976330G>C	ENST00000358465.2	-	5	1032	c.949C>G	c.(949-951)Caa>Gaa	p.Q317E	TRIM33_ENST00000450349.2_5'UTR|TRIM33_ENST00000369543.2_Missense_Mutation_p.Q317E	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	317	Necessary for oligomerization.				gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCTGATTTTGAAAAGCTTCT	0.313			T	RET	papillary thyroid																																	uc001eew.2		NaN		Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11						c.(949-951)CAA>GAA		tripartite motif-containing 33 protein isoform							61.0	63.0	62.0					1																	114976330		2202	4298	6500	SO:0001583	missense	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114976330G>C	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.949C>G	1.37:g.114976330G>C	ENSP00000351250:p.Gln317Glu					TRIM33_uc010ows.1_5'UTR|TRIM33_uc001eex.2_Missense_Mutation_p.Q317E	p.Q317E	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1033	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	317			Necessary for oligomerization.|Potential.		O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	c.949C>G	CCDS872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.674657|4.674657	0.88445|0.88445	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000448034|ENST00000358465;ENST00000369543	T|T;T	0.55413|0.55588	0.52|0.51;0.51	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61085|0.61085	0.2319|0.2319	L|L	0.61387|0.61387	1.9|1.9	0.80722|0.80722	D|D	1|1	.|P;B	.|0.52577	.|0.954;0.222	.|D;B	.|0.67900	.|0.954;0.105	T|T	0.55127|0.55127	-0.8189|-0.8189	7|10	0.10377|0.22109	T|T	0.69|0.4	-10.4203|-10.4203	18.5692|18.5692	0.91129|0.91129	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|317;317	.|Q9UPN9-2;Q9UPN9	.|.;TRI33_HUMAN	L|E	53|317	ENSP00000402333:F53L|ENSP00000351250:Q317E;ENSP00000358556:Q317E	ENSP00000402333:F53L|ENSP00000351250:Q317E	F|Q	-|-	3|1	2|0	TRIM33|TRIM33	114777853|114777853	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.764000|9.764000	0.98949|0.98949	2.374000|2.374000	0.81015|0.81015	0.460000|0.460000	0.39030|0.39030	TTC|CAA		0.313	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1		NM_015906		11	26	0	0	0	1	0	11	26		
CD58	965	broad.mit.edu	37	1	117078795	117078795	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:117078795G>C	ENST00000369489.5	-	3	486	c.420C>G	c.(418-420)gtC>gtG	p.V140V	CD58_ENST00000457047.2_Silent_p.V140V|CD58_ENST00000369487.3_Silent_p.V140V	NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule	140					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interferon-gamma (GO:0071346)|cellular response to tumor necrosis factor (GO:0071356)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|positive regulation of interleukin-8 secretion (GO:2000484)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		TCATGCATTGGACTTCAATGC	0.358																																						uc001egm.2		NaN																	0					0						c.(418-420)GTC>GTG		CD58 molecule isoform 1							86.0	82.0	84.0					1																	117078795		2203	4300	6503	SO:0001819	synonymous_variant	965				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding	g.chr1:117078795G>C	BC005930	CCDS888.1, CCDS44199.1	1p13	2008-02-05	2006-03-28		ENSG00000116815	ENSG00000116815		"""CD molecules"""	1688	protein-coding gene	gene with protein product		153420	"""CD58 antigen, (lymphocyte function-associated antigen 3)"""	LFA3		9510189	Standard	NM_001144822		Approved		uc001egm.3	P19256	OTTHUMG00000022749	ENST00000369489.5:c.420C>G	1.37:g.117078795G>C						CD58_uc001egn.2_RNA|CD58_uc010owy.1_Silent_p.V140V|CD58_uc001ego.1_Intron|CD58_uc001egp.3_Silent_p.V140V	p.V140V	NM_001779	NP_001770	P19256	LFA3_HUMAN		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)	3	541	-	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)	140			Extracellular (Potential).|Ig-like C2-type.		A8K7G5|Q5U053|Q6IB65|Q96KI9	Silent	SNP	ENST00000369489.5	37	c.420C>G	CCDS888.1																																																																																				0.358	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059036.1		NM_001779		11	29	0	0	0	1	0	11	29		
IGSF3	3321	broad.mit.edu	37	1	117142914	117142914	+	Missense_Mutation	SNP	C	C	T	rs372163033		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:117142914C>T	ENST00000369486.3	-	7	2443	c.1678G>A	c.(1678-1680)Gac>Aac	p.D560N	IGSF3_ENST00000318837.6_Missense_Mutation_p.D580N|IGSF3_ENST00000369483.1_Missense_Mutation_p.D580N	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	560	Ig-like C2-type 5.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TCAAAGGAGTCGCTGTAGGTC	0.587																																						uc001egr.1		NaN																	0				ovary(2)	2						c.(1678-1680)GAC>AAC		immunoglobulin superfamily, member 3 isoform 2		C	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	28.0	33.0	31.0		1678,1738	4.6	1.0	1		31	0,8596		0,0,4298	no	missense,missense	IGSF3	NM_001007237.1,NM_001542.2	23,23	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	560/1195,580/1215	117142914	1,13001	2203	4298	6501	SO:0001583	missense	3321					integral to membrane		g.chr1:117142914C>T	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1678G>A	1.37:g.117142914C>T	ENSP00000358498:p.Asp560Asn					IGSF3_uc001egq.1_Missense_Mutation_p.D580N|IGSF3_uc001egs.1_Missense_Mutation_p.D233N	p.D560N	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	7	2383	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	560			Ig-like C2-type 5.|Extracellular (Potential).		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.1678G>A	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.780875	0.70222	2.27E-4	0.0	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.02863	4.13;4.13;4.13	4.57	4.57	0.56435	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.298173	0.36591	N	0.002518	T	0.01523	0.0049	N	0.16790	0.44	0.58432	D	0.999998	P;D;P	0.54397	0.771;0.966;0.808	B;P;B	0.49528	0.219;0.614;0.326	T	0.72279	-0.4340	10	0.16896	T	0.51	-39.9473	14.8995	0.70666	0.0:1.0:0.0:0.0	.	580;560;580	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	N	560;580;580	ENSP00000358498:D560N;ENSP00000358495:D580N;ENSP00000321184:D580N	ENSP00000321184:D580N	D	-	1	0	IGSF3	116944437	1.000000	0.71417	0.988000	0.46212	0.770000	0.43624	7.127000	0.77210	2.354000	0.79902	0.455000	0.32223	GAC		0.587	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1		NM_001542		16	38	0	0	0	1	0	16	38		
PTGFRN	5738	broad.mit.edu	37	1	117509931	117509931	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:117509931G>C	ENST00000393203.2	+	6	2185	c.2038G>C	c.(2038-2040)Gag>Cag	p.E680Q	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	680					lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CAATCCTATTGAGATAGACTT	0.522																																						uc001egv.1		NaN																	0				liver(1)	1						c.(2038-2040)GAG>CAG		prostaglandin F2 receptor negative regulator							47.0	48.0	48.0					1																	117509931		2203	4299	6502	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117509931G>C	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.2038G>C	1.37:g.117509931G>C	ENSP00000376899:p.Glu680Gln						p.E680Q	NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	6	2175	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	680			Extracellular (Potential).		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.2038G>C	CCDS890.1	.	.	.	.	.	.	.	.	.	.	G	6.948	0.544682	0.13312	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.03496	3.91	5.56	4.58	0.56647	.	0.395111	0.28996	N	0.013479	T	0.00468	0.0015	N	0.00583	-1.355	0.29343	N	0.865882	B	0.14012	0.009	B	0.12156	0.007	T	0.49908	-0.8889	10	0.13470	T	0.59	-35.827	13.9425	0.64064	0.0:0.1914:0.8086:0.0	.	680	Q9P2B2	FPRP_HUMAN	Q	680;539	ENSP00000376899:E680Q	ENSP00000376899:E680Q	E	+	1	0	PTGFRN	117311454	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.603000	0.54074	2.787000	0.95880	0.650000	0.86243	GAG		0.522	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1		NM_020440		21	69	0	0	0	1	0	21	69		
SPAG17	200162	broad.mit.edu	37	1	118535110	118535110	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:118535110C>G	ENST00000336338.5	-	36	5405	c.5340G>C	c.(5338-5340)ctG>ctC	p.L1780L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1780						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCTGCAGCCTCAGTTTCACCT	0.463																																						uc001ehk.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(5338-5340)CTG>CTC		sperm associated antigen 17							109.0	107.0	108.0					1																	118535110		2203	4300	6503	SO:0001819	synonymous_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118535110C>G		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5340G>C	1.37:g.118535110C>G							p.L1780L	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	36	5408	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1780					Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	c.5340G>C	CCDS899.1																																																																																				0.463	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1		NM_206996		24	69	0	0	0	1	0	24	69		
ADAM30	11085	broad.mit.edu	37	1	120436660	120436660	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:120436660C>T	ENST00000369400.1	-	1	2458	c.2300G>A	c.(2299-2301)gGa>gAa	p.G767E		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	767	5 X 9 AA approximate repeats.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTCTTCCTGTCCAGTTTTTGC	0.358																																						uc001eij.2		NaN																	0				ovary(2)|lung(1)	3						c.(2299-2301)GGA>GAA		ADAM metallopeptidase domain 30 preproprotein							308.0	321.0	317.0					1																	120436660		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120436660C>T	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.2300G>A	1.37:g.120436660C>T	ENSP00000358407:p.Gly767Glu						p.G767E	NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	2454	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	767			4.|Cytoplasmic (Potential).|5 X 9 AA approximate repeats.		A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.2300G>A	CCDS907.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547032	0.27652	.	.	ENSG00000134249	ENST00000369400	T	0.01172	5.23	2.17	-4.16	0.03869	.	.	.	.	.	T	0.00210	0.0006	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.33266	-0.9875	9	0.23302	T	0.38	.	4.3567	0.11181	0.0:0.4575:0.2048:0.3377	.	767	Q9UKF2	ADA30_HUMAN	E	767	ENSP00000358407:G767E	ENSP00000358407:G767E	G	-	2	0	ADAM30	120238183	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.143000	0.00585	-1.047000	0.03242	-1.058000	0.02302	GGA		0.358	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1		NM_021794		54	190	0	0	0	1	0	54	190		
PDE4DIP	9659	broad.mit.edu	37	1	144876029	144876029	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:144876029C>G	ENST00000369354.3	-	29	4841		c.e29-1		PDE4DIP_ENST00000530740.1_Splice_Site|PDE4DIP_ENST00000524974.1_Splice_Site|PDE4DIP_ENST00000369356.4_Splice_Site|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000313382.9_Splice_Site|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369359.4_Splice_Site			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTATGATCCTCTGTAAACCAA	0.458			T	PDGFRB	MPD																																	uc001elw.3		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.e29-1		phosphodiesterase 4D interacting protein isoform							191.0	195.0	194.0					1																	144876029		2203	4296	6499	SO:0001630	splice_region_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144876029C>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4652-1G>C	1.37:g.144876029C>G						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Splice_Site_p.K1507_splice|PDE4DIP_uc001elv.3_Splice_Site_p.K558_splice	p.K1551_splice	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	29	4943	-								A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Splice_Site	SNP	ENST00000369354.3	37	c.4652_splice	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	17.46	3.395207	0.62066	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0109	0.80402	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDE4DIP	143587386	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.622000	0.61240	2.648000	0.89879	0.650000	0.86243	.		0.458	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359	Intron	37	288	0	0	0	1	0	37	288		
NOTCH2NL	388677	broad.mit.edu	37	1	145273377	145273377	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:145273377G>C	ENST00000369340.3	+	4	675	c.231G>C	c.(229-231)ctG>ctC	p.L77L	RP11-458D21.5_ENST00000468030.1_Silent_p.L77L|NOTCH2NL_ENST00000344859.3_Silent_p.L77L|NOTCH2NL_ENST00000362074.6_Silent_p.L77L			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	77	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GACCTTGCCTGAATGGCGGCA	0.532																																						uc001emn.3		NaN																	0				ovary(1)	1						c.(229-231)CTG>CTC		Notch homolog 2 N-terminal like protein							454.0	416.0	429.0					1																	145273377		2203	4300	6503	SO:0001819	synonymous_variant	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145273377G>C		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.231G>C	1.37:g.145273377G>C						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Silent_p.L77L|NOTCH2NL_uc001emo.2_Silent_p.L77L|NOTCH2NL_uc010oyh.1_RNA	p.L77L	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN			3	601	+			77			EGF-like 3.		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Silent	SNP	ENST00000369340.3	37	c.231G>C	CCDS909.1																																																																																				0.532	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1		NM_203458		40	574	0	0	0	1	0	40	574		
BCL9	607	broad.mit.edu	37	1	147091378	147091378	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:147091378C>T	ENST00000234739.3	+	8	2157	c.1417C>T	c.(1417-1419)Ctg>Ttg	p.L473L		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	473	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GATAGCGTGGCTGAAACTGCA	0.517			T	"""IGH@, IGL@"""	B-ALL																																	uc001epq.2		NaN		Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	IGH@|IGL@		B-ALL		0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(1417-1419)CTG>TTG		B-cell CLL/lymphoma 9							51.0	55.0	54.0					1																	147091378		2203	4300	6503	SO:0001819	synonymous_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091378C>T	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1417C>T	1.37:g.147091378C>T						BCL9_uc010ozr.1_Silent_p.L399L	p.L473L	NM_004326	NP_004317	O00512	BCL9_HUMAN			8	2157	+	all_hematologic(923;0.115)		473			Pro-rich.		Q5T489	Silent	SNP	ENST00000234739.3	37	c.1417C>T	CCDS30833.1																																																																																				0.517	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1		NM_004326		34	84	0	0	0	1	0	34	84		
BCL9	607	broad.mit.edu	37	1	147091483	147091483	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:147091483C>T	ENST00000234739.3	+	8	2262	c.1522C>T	c.(1522-1524)Cgg>Tgg	p.R508W		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	508	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.R508W(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GCACGGGCCTCGGGGAGTGGT	0.567			T	"""IGH@, IGL@"""	B-ALL																																	uc001epq.2		NaN		Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	IGH@|IGL@		B-ALL		1	Substitution - Missense(1)		skin(1)	ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(1522-1524)CGG>TGG		B-cell CLL/lymphoma 9							66.0	75.0	72.0					1																	147091483		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091483C>T	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1522C>T	1.37:g.147091483C>T	ENSP00000234739:p.Arg508Trp					BCL9_uc010ozr.1_Missense_Mutation_p.R434W	p.R508W	NM_004326	NP_004317	O00512	BCL9_HUMAN			8	2262	+	all_hematologic(923;0.115)		508			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.1522C>T	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012747	0.54468	.	.	ENSG00000116128	ENST00000234739	T	0.57436	0.4	5.51	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.51787	0.1695	L	0.51422	1.61	0.51482	D	0.99992	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.981	T	0.56312	-0.8000	10	0.62326	D	0.03	-9.9325	8.4868	0.33076	0.2741:0.6566:0.0:0.0693	.	508;508	Q1JQ81;O00512	.;BCL9_HUMAN	W	508	ENSP00000234739:R508W	ENSP00000234739:R508W	R	+	1	2	BCL9	145558107	0.990000	0.36364	0.670000	0.29842	0.995000	0.86356	2.898000	0.48672	0.881000	0.35993	0.561000	0.74099	CGG		0.567	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1		NM_004326		36	152	0	0	0	1	0	36	152		
HORMAD1	84072	broad.mit.edu	37	1	150679155	150679155	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:150679155C>G	ENST00000361824.2	-	10	783	c.678G>C	c.(676-678)gtG>gtC	p.V226V	HORMAD1_ENST00000322343.7_Silent_p.V219V|HORMAD1_ENST00000368995.4_Silent_p.V146V|HORMAD1_ENST00000368993.2_Silent_p.V226V	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	226	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TCTCAGTGGTCACTTTTACTT	0.348																																						uc001evk.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(676-678)GTG>GTC		HORMA domain containing 1							180.0	172.0	175.0					1																	150679155		2203	4300	6503	SO:0001819	synonymous_variant	84072				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		g.chr1:150679155C>G	AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.678G>C	1.37:g.150679155C>G						HORMAD1_uc001evl.1_Silent_p.V219V|HORMAD1_uc001evm.1_Silent_p.V146V	p.V226V	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		10	784	-	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		226			HORMA.		A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Silent	SNP	ENST00000361824.2	37	c.678G>C	CCDS967.1																																																																																				0.348	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1		NM_032132		19	82	0	0	0	1	0	19	82		
ANXA9	8416	broad.mit.edu	37	1	150956496	150956496	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:150956496G>C	ENST00000368947.4	+	5	694	c.218G>C	c.(217-219)aGa>aCa	p.R73T	ANXA9_ENST00000474997.1_3'UTR	NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	73					single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|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)			AACCGGAGCAGAGAGCAAAGG	0.587																																						uc001ewa.2		NaN																	0					0						c.(217-219)AGA>ACA		annexin A9							79.0	59.0	66.0					1																	150956496		2203	4300	6503	SO:0001583	missense	8416				cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity	g.chr1:150956496G>C	AJ009985	CCDS975.2	1q21.2	2008-02-05			ENSG00000143412	ENSG00000143412		"""Annexins"""	547	protein-coding gene	gene with protein product		603319		ANX31		9742942, 9931420	Standard	NM_003568		Approved		uc001ewa.2	O76027	OTTHUMG00000035063	ENST00000368947.4:c.218G>C	1.37:g.150956496G>C	ENSP00000357943:p.Arg73Thr						p.R73T	NM_003568	NP_003559	O76027	ANXA9_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		5	688	+	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		73			Annexin 1.		Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6	Missense_Mutation	SNP	ENST00000368947.4	37	c.218G>C	CCDS975.2	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717516	0.68844	.	.	ENSG00000143412	ENST00000368947	T	0.03272	3.99	5.52	3.54	0.40534	Annexin repeat, conserved site (1);	0.173147	0.51477	D	0.000093	T	0.01489	0.0048	L	0.33485	1.01	0.29467	N	0.857334	P	0.41748	0.761	B	0.42738	0.396	T	0.46978	-0.9152	10	0.49607	T	0.09	.	7.048	0.25056	0.0924:0.1735:0.7341:0.0	.	73	O76027	ANXA9_HUMAN	T	73	ENSP00000357943:R73T	ENSP00000357943:R73T	R	+	2	0	ANXA9	149223120	0.994000	0.37717	1.000000	0.80357	0.914000	0.54420	2.074000	0.41529	1.322000	0.45245	0.655000	0.94253	AGA		0.587	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084895.2		NM_003568		4	27	0	0	0	1	0	4	27		
SEMA6C	10500	broad.mit.edu	37	1	151107335	151107335	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:151107335G>C	ENST00000341697.3	-	16	3288	c.1597C>G	c.(1597-1599)Cag>Gag	p.Q533E	SEMA6C_ENST00000479820.1_5'Flank			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	533					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	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)			TATGGGTCCTGAGAAGCCAAA	0.522																																						uc001ewu.2		NaN																	0				ovary(1)|skin(1)	2						c.(1597-1599)CAG>GAG		semaphorin Y precursor							120.0	109.0	113.0					1																	151107335		2203	4300	6503	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151107335G>C	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1597C>G	1.37:g.151107335G>C	ENSP00000344148:p.Gln533Glu					SEMA6C_uc001ewv.2_Missense_Mutation_p.Q533E|SEMA6C_uc001eww.2_Missense_Mutation_p.Q493E|SEMA6C_uc010pcq.1_Missense_Mutation_p.Q533E	p.Q533E	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		16	1897	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		533			Extracellular (Potential).		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.1597C>G	CCDS984.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547629	0.45383	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.25	5.25	0.73442	.	0.125196	0.53938	D	0.000047	T	0.19366	0.0465	L	0.50333	1.59	0.25132	N	0.990565	B;B;B;B	0.26547	0.056;0.152;0.026;0.081	B;B;B;B	0.27887	0.026;0.05;0.016;0.084	T	0.06734	-1.0810	10	0.87932	D	0	.	11.285	0.49216	0.0:0.0:0.8183:0.1817	.	533;493;533;533	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	E	533;493;533;533	ENSP00000357910:Q533E;ENSP00000357908:Q493E;ENSP00000357909:Q533E;ENSP00000344148:Q533E	ENSP00000344148:Q533E	Q	-	1	0	SEMA6C	149373959	0.730000	0.28100	1.000000	0.80357	0.857000	0.48899	3.514000	0.53422	2.744000	0.94065	0.561000	0.74099	CAG		0.522	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1		NM_030913		18	65	0	0	0	1	0	18	65		
SEMA6C	10500	broad.mit.edu	37	1	151108595	151108595	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:151108595G>A	ENST00000341697.3	-	13	2842	c.1151C>T	c.(1150-1152)tCt>tTt	p.S384F				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	384	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	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)			GTCTCGGGAAGAGGAGAACAA	0.592																																						uc001ewu.2		NaN																	0				ovary(1)|skin(1)	2						c.(1150-1152)TCT>TTT		semaphorin Y precursor							122.0	110.0	114.0					1																	151108595		2203	4300	6503	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151108595G>A	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1151C>T	1.37:g.151108595G>A	ENSP00000344148:p.Ser384Phe					SEMA6C_uc001ewv.2_Missense_Mutation_p.S384F|SEMA6C_uc001eww.2_Missense_Mutation_p.S344F|SEMA6C_uc010pcq.1_Missense_Mutation_p.S384F	p.S384F	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		13	1451	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		384			Extracellular (Potential).|Sema.		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.1151C>T	CCDS984.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370413	0.82573	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.15	5.15	0.70609	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.126109	0.56097	D	0.000032	T	0.54775	0.1879	M	0.92317	3.295	0.50813	D	0.99989	D;D;D;D	0.76494	0.999;0.998;0.998;0.999	D;D;D;D	0.87578	0.986;0.992;0.964;0.998	T	0.67205	-0.5729	10	0.87932	D	0	.	16.1219	0.81365	0.0:0.0:1.0:0.0	.	384;344;384;384	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	F	384;344;384;384	ENSP00000357910:S384F;ENSP00000357908:S344F;ENSP00000357909:S384F;ENSP00000344148:S384F	ENSP00000344148:S384F	S	-	2	0	SEMA6C	149375219	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.430000	0.73391	2.419000	0.82065	0.561000	0.74099	TCT		0.592	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1		NM_030913		13	77	0	0	0	1	0	13	77		
SEMA6C	10500	broad.mit.edu	37	1	151108598	151108598	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:151108598G>A	ENST00000341697.3	-	13	2839	c.1148C>T	c.(1147-1149)tCc>tTc	p.S383F				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	383	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	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)			TCGGGAAGAGGAGAACAAGGC	0.592																																						uc001ewu.2		NaN																	0				ovary(1)|skin(1)	2						c.(1147-1149)TCC>TTC		semaphorin Y precursor							119.0	107.0	111.0					1																	151108598		2203	4300	6503	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151108598G>A	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1148C>T	1.37:g.151108598G>A	ENSP00000344148:p.Ser383Phe					SEMA6C_uc001ewv.2_Missense_Mutation_p.S383F|SEMA6C_uc001eww.2_Missense_Mutation_p.S343F|SEMA6C_uc010pcq.1_Missense_Mutation_p.S383F	p.S383F	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		13	1448	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		383			Extracellular (Potential).|Sema.		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.1148C>T	CCDS984.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927575	0.73327	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	5.15	5.15	0.70609	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.414116	0.25944	N	0.027288	T	0.25232	0.0613	L	0.58510	1.815	0.31154	N	0.705128	P;P;P;P	0.52061	0.95;0.892;0.772;0.912	P;P;P;P	0.53266	0.722;0.542;0.477;0.671	T	0.07290	-1.0780	10	0.72032	D	0.01	.	11.2537	0.49041	0.0:0.0:0.8173:0.1826	.	383;343;383;383	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	F	383;343;383;383	ENSP00000357910:S383F;ENSP00000357908:S343F;ENSP00000357909:S383F;ENSP00000344148:S383F	ENSP00000344148:S383F	S	-	2	0	SEMA6C	149375222	0.667000	0.27484	0.996000	0.52242	0.979000	0.70002	2.308000	0.43690	2.419000	0.82065	0.561000	0.74099	TCC		0.592	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1		NM_030913		11	77	0	0	0	1	0	11	77		
POGZ	23126	broad.mit.edu	37	1	151378586	151378586	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:151378586C>T	ENST00000271715.2	-	19	3239	c.2925G>A	c.(2923-2925)gtG>gtA	p.V975V	POGZ_ENST00000491586.1_Silent_p.V931V|POGZ_ENST00000540984.1_Silent_p.V337V|POGZ_ENST00000361398.3_Silent_p.V922V|POGZ_ENST00000368863.2_Silent_p.V880V|POGZ_ENST00000531094.1_Silent_p.V913V|POGZ_ENST00000392723.1_Silent_p.V922V|POGZ_ENST00000409503.1_Silent_p.V966V	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	975					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAAGCTTCTTCACAGACAGCT	0.517																																						uc001eyd.1		NaN																	0				ovary(3)	3						c.(2923-2925)GTG>GTA		pogo transposable element with ZNF domain							116.0	106.0	109.0					1																	151378586		2203	4300	6503	SO:0001819	synonymous_variant	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151378586C>T	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.2925G>A	1.37:g.151378586C>T						POGZ_uc001eye.1_Silent_p.V922V|POGZ_uc010pdb.1_Silent_p.V966V|POGZ_uc001eyf.1_Silent_p.V931V|POGZ_uc010pdc.1_Silent_p.V913V|POGZ_uc009wmv.1_Silent_p.V880V|POGZ_uc010pdd.1_Silent_p.V466V	p.V975V	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		19	3231	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		975					B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Silent	SNP	ENST00000271715.2	37	c.2925G>A	CCDS997.1																																																																																				0.517	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2		NM_207171		35	112	0	0	0	1	0	35	112		
CGN	57530	broad.mit.edu	37	1	151492649	151492649	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:151492649C>G	ENST00000271636.7	+	3	1014	c.881C>G	c.(880-882)tCa>tGa	p.S294*		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	288	Head.|Interacts with ZO-2.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGTTCAAATCAACTCCAGAC	0.468																																						uc009wmw.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(880-882)TCA>TGA		cingulin							26.0	28.0	27.0					1																	151492649		2203	4300	6503	SO:0001587	stop_gained	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151492649C>G	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.881C>G	1.37:g.151492649C>G	ENSP00000271636:p.Ser294*						p.S294*	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		3	1025	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		288			Interacts with ZO-2.|Head.		A6H8L3|A7MD22|Q5T386|Q9NR25	Nonsense_Mutation	SNP	ENST00000271636.7	37	c.881C>G	CCDS999.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.922996|5.922996	0.97110|0.97110	.|.	.|.	ENSG00000143375|ENSG00000143375	ENST00000416743|ENST00000271636	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.391969	.|0.26574	.|N	.|0.023609	T|.	0.61362|.	0.2341|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.64550|.	-0.6381|.	3|.	.|0.54805	.|T	.|0.06	-6.8748|-6.8748	13.8647|13.8647	0.63581|0.63581	0.0:0.8472:0.1528:0.0|0.0:0.8472:0.1528:0.0	.|.	.|.	.|.	.|.	E|X	11|294	.|.	.|ENSP00000271636:S294X	Q|S	+|+	1|2	0|0	CGN|CGN	149759273|149759273	0.974000|0.974000	0.33945|0.33945	0.996000|0.996000	0.52242|0.52242	0.790000|0.790000	0.44656|0.44656	2.418000|2.418000	0.44662|0.44662	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.468	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3		NM_020770		9	41	0	0	0	1	0	9	41		
TCHH	7062	broad.mit.edu	37	1	152085023	152085023	+	Missense_Mutation	SNP	C	C	T	rs368247283		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:152085023C>T	ENST00000368804.1	-	2	669	c.670G>A	c.(670-672)Gag>Aag	p.E224K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	224					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTTTCTCCTCGCGGCCCTTC	0.572																																						uc001ezp.2		NaN																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(670-672)GAG>AAG		trichohyalin							85.0	95.0	91.0					1																	152085023		2061	4193	6254	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152085023C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.670G>A	1.37:g.152085023C>T	ENSP00000357794:p.Glu224Lys					TCHH_uc009wne.1_Missense_Mutation_p.E224K	p.E224K	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	670	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		224					Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.670G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	9.553	1.116316	0.20795	.	.	ENSG00000159450	ENST00000368804	T	0.05649	3.41	3.6	0.344	0.16006	.	.	.	.	.	T	0.00784	0.0026	N	0.08118	0	0.09310	N	1	B	0.25351	0.124	B	0.17979	0.02	T	0.47522	-0.9111	9	0.22706	T	0.39	.	4.6903	0.12778	0.0:0.3882:0.3945:0.2173	.	224	Q07283	TRHY_HUMAN	K	224	ENSP00000357794:E224K	ENSP00000357794:E224K	E	-	1	0	TCHH	150351647	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.148000	0.03185	-0.029000	0.13827	0.298000	0.19748	GAG		0.572	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2		NM_007113		68	229	0	0	0	1	0	68	229		
RPTN	126638	broad.mit.edu	37	1	152128074	152128074	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:152128074G>A	ENST00000316073.3	-	3	1565	c.1501C>T	c.(1501-1503)Cag>Tag	p.Q501*		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	501	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCGTCTGGCTGACCATAATGA	0.507																																						uc001ezs.1		NaN																	0					0						c.(1501-1503)CAG>TAG		repetin							826.0	714.0	748.0					1																	152128074		1568	3582	5150	SO:0001587	stop_gained	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128074G>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1501C>T	1.37:g.152128074G>A	ENSP00000317895:p.Gln501*						p.Q501*	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	1566	-			501			Gln-rich.		B7ZBZ3	Nonsense_Mutation	SNP	ENST00000316073.3	37	c.1501C>T	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243338	0.79912	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	.	.	.	4.77	4.77	0.60923	.	0.275088	0.19304	U	0.117575	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-3.5238	15.2552	0.73579	0.0:0.0:1.0:0.0	.	.	.	.	X	501;156	.	ENSP00000317895:Q501X	Q	-	1	0	RPTN	150394698	0.940000	0.31905	0.038000	0.18304	0.029000	0.11900	2.924000	0.48876	2.185000	0.69588	0.423000	0.28283	CAG		0.507	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1		XM_371312		204	672	0	0	0	1	0	204	672		
HRNR	388697	broad.mit.edu	37	1	152187713	152187713	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:152187713G>T	ENST00000368801.2	-	3	6467	c.6392C>A	c.(6391-6393)tCt>tAt	p.S2131Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2131					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)			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)			TCCGTAGCCAGAGGAGTGACC	0.567																																						uc001ezt.1		NaN																	0				skin(2)|ovary(1)	3						c.(6391-6393)TCT>TAT		hornerin							6.0	4.0	4.0					1																	152187713		1483	2918	4401	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187713G>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.6392C>A	1.37:g.152187713G>T	ENSP00000357791:p.Ser2131Tyr						p.S2131Y	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6468	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2131					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6392C>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	7.096	0.573156	0.13623	.	.	ENSG00000197915	ENST00000368801	T	0.05925	3.37	3.93	3.0	0.34707	.	.	.	.	.	T	0.07098	0.0180	L	0.55990	1.75	0.09310	N	1	D	0.62365	0.991	P	0.58013	0.831	T	0.15521	-1.0434	9	0.62326	D	0.03	.	9.6867	0.40103	0.106:0.0:0.894:0.0	.	2131	Q86YZ3	HORN_HUMAN	Y	2131	ENSP00000357791:S2131Y	ENSP00000357791:S2131Y	S	-	2	0	HRNR	150454337	0.003000	0.15002	0.004000	0.12327	0.005000	0.04900	0.767000	0.26575	0.988000	0.38734	0.603000	0.83216	TCT		0.567	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1		XM_373868		19	531	1	0	1.36615e-20	1	1.45282e-20	19	531		
FLG	2312	broad.mit.edu	37	1	152283449	152283449	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:152283449C>T	ENST00000368799.1	-	3	3948	c.3913G>A	c.(3913-3915)Ggc>Agc	p.G1305S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1305	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tgtctggagccatctcttgac	0.547									Ichthyosis																													uc001ezu.1		NaN																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(3913-3915)GGC>AGC		filaggrin							193.0	189.0	190.0					1																	152283449		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283449C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3913G>A	1.37:g.152283449C>T	ENSP00000357789:p.Gly1305Ser					uc001ezv.2_5'Flank	p.G1305S	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3949	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1305			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3913G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	8.016	0.758534	0.15846	.	.	ENSG00000143631	ENST00000368799	T	0.01304	5.03	2.9	0.326	0.15908	.	.	.	.	.	T	0.00384	0.0012	L	0.55990	1.75	0.09310	N	1	B	0.17465	0.022	B	0.15870	0.014	T	0.49881	-0.8892	9	0.05721	T	0.95	.	2.2448	0.04029	0.2451:0.1565:0.0:0.5984	.	1305	P20930	FILA_HUMAN	S	1305	ENSP00000357789:G1305S	ENSP00000357789:G1305S	G	-	1	0	FLG	150550073	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.403000	0.07214	-0.051000	0.13334	0.299000	0.19835	GGC		0.547	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		82	258	0	0	0	1	0	82	258		
FLAD1	80308	broad.mit.edu	37	1	154956263	154956263	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:154956263C>G	ENST00000292180.3	+	1	415	c.93C>G	c.(91-93)ctC>ctG	p.L31L	FLAD1_ENST00000487371.1_Intron|FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000315144.10_Intron|FLAD1_ENST00000368431.3_Intron|FLAD1_ENST00000368433.1_Silent_p.L31L	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	31					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)	p.L31L(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGTCTTCCTCGAAGGAAGCA	0.552																																						uc001fgf.1		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(91-93)CTC>CTG		flavin adenine dinucleotide synthetase isoform							96.0	96.0	96.0					1																	154956263		2203	4300	6503	SO:0001819	synonymous_variant	80308				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	g.chr1:154956263C>G		CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.93C>G	1.37:g.154956263C>G						FLAD1_uc001fgc.2_Intron|FLAD1_uc001fgd.1_Silent_p.L31L|FLAD1_uc001fge.1_Intron|FLAD1_uc001fgg.1_Intron	p.L31L	NM_025207	NP_079483	Q8NFF5	FAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		1	447	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		31					Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Silent	SNP	ENST00000292180.3	37	c.93C>G	CCDS1078.1																																																																																				0.552	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1		NM_025207		36	101	0	0	0	1	0	36	101		
DCST2	127579	broad.mit.edu	37	1	155001832	155001832	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:155001832G>A	ENST00000368424.3	-	8	1277	c.1219C>T	c.(1219-1221)Ctg>Ttg	p.L407L	DCST2_ENST00000295536.5_Silent_p.L407L	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	407						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AAGGTCTCCAGAATGTAAAAA	0.547																																						uc001fgm.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1219-1221)CTG>TTG		DC-STAMP domain containing 2							130.0	122.0	125.0					1																	155001832		2203	4300	6503	SO:0001819	synonymous_variant	127579					integral to membrane		g.chr1:155001832G>A	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1219C>T	1.37:g.155001832G>A						DCST2_uc009wpb.2_RNA	p.L407L	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		8	1299	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		407			Cytoplasmic (Potential).		Q2M2R2|Q8N810|Q96M03	Silent	SNP	ENST00000368424.3	37	c.1219C>T	CCDS1082.2																																																																																				0.547	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3		NM_144622		35	102	0	0	0	1	0	35	102		
ASH1L	55870	broad.mit.edu	37	1	155319120	155319120	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:155319120C>T	ENST00000368346.3	-	19	8206	c.7567G>A	c.(7567-7569)Gag>Aag	p.E2523K	MIR555_ENST00000384987.1_RNA|ASH1L_ENST00000392403.3_Missense_Mutation_p.E2518K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2523	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AAAAATACCTCAGCATTCCGA	0.378																																						uc009wqq.2		NaN																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(7567-7569)GAG>AAG		absent, small, or homeotic 1-like							76.0	77.0	77.0					1																	155319120		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155319120C>T	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.7567G>A	1.37:g.155319120C>T	ENSP00000357330:p.Glu2523Lys					RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.E2518K|MIR555_hsa-mir-555|MI0003561_5'Flank	p.E2523K	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		19	8047	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2523			Bromo.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.7567G>A		.	.	.	.	.	.	.	.	.	.	C	20.4	3.985791	0.74589	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	T;T	0.28895	1.59;1.59	5.04	5.04	0.67666	Bromodomain (5);	0.048847	0.85682	D	0.000000	T	0.33118	0.0852	N	0.21240	0.645	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.78314	0.991;0.985	T	0.09037	-1.0693	10	0.40728	T	0.16	.	18.1636	0.89718	0.0:1.0:0.0:0.0	.	2523;2518	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	K	2523;2518	ENSP00000357330:E2523K;ENSP00000376204:E2518K	ENSP00000357330:E2523K	E	-	1	0	ASH1L	153585744	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.112000	0.77086	2.619000	0.88677	0.555000	0.69702	GAG		0.378	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1		NM_018489		15	44	0	0	0	1	0	15	44		
SEMA4A	64218	broad.mit.edu	37	1	156146338	156146338	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:156146338G>A	ENST00000368285.3	+	15	2103	c.1836G>A	c.(1834-1836)ctG>ctA	p.L612L	SEMA4A_ENST00000368284.1_Silent_p.L480L|SEMA4A_ENST00000368282.1_Silent_p.L612L|SEMA4A_ENST00000355014.2_Silent_p.L612L|SEMA4A_ENST00000368286.2_Silent_p.L480L	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	612	Ig-like C2-type.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCCTCTTGCTGATAGTGCAGG	0.557																																						uc001fnl.2		NaN																	0				ovary(1)|skin(1)	2						c.(1834-1836)CTG>CTA		semaphorin B precursor							114.0	114.0	114.0					1																	156146338		2203	4300	6503	SO:0001819	synonymous_variant	64218				axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156146338G>A	AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.1836G>A	1.37:g.156146338G>A						SEMA4A_uc009wrq.2_Silent_p.L612L|SEMA4A_uc001fnm.2_Silent_p.L612L|SEMA4A_uc001fnn.2_Silent_p.L480L|SEMA4A_uc001fno.2_Silent_p.L612L	p.L612L	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN			15	1940	+	Hepatocellular(266;0.158)		612			Extracellular (Potential).|Ig-like C2-type.		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Silent	SNP	ENST00000368285.3	37	c.1836G>A	CCDS1132.1																																																																																				0.557	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2		NM_022367		30	76	0	0	0	1	0	30	76		
SEMA4A	64218	broad.mit.edu	37	1	156146608	156146608	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:156146608C>T	ENST00000368285.3	+	15	2373	c.2106C>T	c.(2104-2106)ctC>ctT	p.L702L	SEMA4A_ENST00000368284.1_Silent_p.L570L|SEMA4A_ENST00000368282.1_Silent_p.L702L|SEMA4A_ENST00000355014.2_Silent_p.L702L|SEMA4A_ENST00000368286.2_Silent_p.L570L	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	702					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TCATCATCCTCGTGGCCTCCC	0.632																																						uc001fnl.2		NaN																	0				ovary(1)|skin(1)	2						c.(2104-2106)CTC>CTT		semaphorin B precursor							90.0	80.0	83.0					1																	156146608		2203	4300	6503	SO:0001819	synonymous_variant	64218				axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156146608C>T	AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.2106C>T	1.37:g.156146608C>T						SEMA4A_uc009wrq.2_Silent_p.L702L|SEMA4A_uc001fnm.2_Silent_p.L702L|SEMA4A_uc001fnn.2_Silent_p.L570L|SEMA4A_uc001fno.2_Silent_p.L702L	p.L702L	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN			15	2210	+	Hepatocellular(266;0.158)		702			Helical; (Potential).		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Silent	SNP	ENST00000368285.3	37	c.2106C>T	CCDS1132.1																																																																																				0.632	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2		NM_022367		19	87	0	0	0	1	0	19	87		
SMG5	23381	broad.mit.edu	37	1	156247731	156247731	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:156247731G>A	ENST00000361813.5	-	3	426	c.282C>T	c.(280-282)atC>atT	p.I94I	SMG5_ENST00000368267.5_Silent_p.I94I	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	94					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TGTTAGTCTTGATAAGCTGGA	0.478																																						uc001foc.3		NaN																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(280-282)ATC>ATT		SMG5 homolog nonsense mediated mRNA decay							180.0	178.0	179.0					1																	156247731		2203	4300	6503	SO:0001819	synonymous_variant	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156247731G>A	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.282C>T	1.37:g.156247731G>A							p.I94I	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN			3	431	-	Hepatocellular(266;0.158)		94					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Silent	SNP	ENST00000361813.5	37	c.282C>T	CCDS1137.1																																																																																				0.478	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1		NM_015327		65	223	0	0	0	1	0	65	223		
TSACC	128229	broad.mit.edu	37	1	156316677	156316677	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:156316677G>A	ENST00000368255.3	+	4	642	c.282G>A	c.(280-282)gtG>gtA	p.V94V	TSACC_ENST00000368254.1_Silent_p.V94V|TSACC_ENST00000368253.2_Silent_p.V94V|TSACC_ENST00000466306.1_Missense_Mutation_p.D91N|TSACC_ENST00000368251.1_Silent_p.V94V|TSACC_ENST00000481479.1_Missense_Mutation_p.D91N|TSACC_ENST00000368252.1_Silent_p.V94V|TSACC_ENST00000470342.1_Missense_Mutation_p.D91N	NM_144627.3	NP_653228.1	Q96A04	TSACC_HUMAN	TSSK6 activating co-chaperone	94						cytoplasm (GO:0005737)	chaperone binding (GO:0051087)										AGGCATCTGTGACACAACTGG	0.468																																						uc001foo.2		NaN																	0					0						c.(280-282)GTG>GTA		SSTK-interacting protein							110.0	108.0	109.0					1																	156316677		2203	4300	6503	SO:0001819	synonymous_variant	128229							g.chr1:156316677G>A	AY048672	CCDS1141.1	1q22	2012-08-16	2012-08-16	2012-08-16	ENSG00000163467	ENSG00000163467			30636	protein-coding gene	gene with protein product	"""SSTK-interacting protein"""		"""chromosome 1 open reading frame 182"""	C1orf182		20829357	Standard	NM_144627		Approved	SSTK-IP, SIP	uc001foo.3	Q96A04	OTTHUMG00000024060	ENST00000368255.3:c.282G>A	1.37:g.156316677G>A						C1orf182_uc009wry.2_Silent_p.V94V|C1orf182_uc001fop.3_Silent_p.V94V	p.V94V	NM_144627	NP_653228	Q96A04	CA182_HUMAN			4	644	+	Hepatocellular(266;0.158)		94					D3DVB9	Silent	SNP	ENST00000368255.3	37	c.282G>A	CCDS1141.1																																																																																				0.468	TSACC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060594.1		NM_144627		32	102	0	0	0	1	0	32	102		
APOA1BP	128240	broad.mit.edu	37	1	156562243	156562243	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:156562243C>T	ENST00000368235.3	+	3	421	c.378C>T	c.(376-378)gtC>gtT	p.V126V	APOA1BP_ENST00000368234.3_Silent_p.V126V|APOA1BP_ENST00000368233.3_Silent_p.V126V|APOA1BP_ENST00000467374.1_3'UTR	NM_144772.2	NP_658985.2			apolipoprotein A-I binding protein											central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATGGTCTGGTCTGTGCTCGAC	0.582																																						uc001fph.2		NaN																	0				central_nervous_system(1)	1						c.(376-378)GTC>GTT		apolipoprotein A-I binding protein precursor							140.0	136.0	137.0					1																	156562243		2203	4300	6503	SO:0001819	synonymous_variant	128240					extracellular region	protein binding	g.chr1:156562243C>T	AJ315849	CCDS1145.1	1q21	2008-08-14			ENSG00000163382	ENSG00000163382			18453	protein-coding gene	gene with protein product	"""apoA-I binding protein"""	608862				11991719, 17533573	Standard	NM_144772		Approved	AIBP, MGC119143, MGC119144, MGC119145, YJEFN1	uc001fph.3	Q8NCW5	OTTHUMG00000033206	ENST00000368235.3:c.378C>T	1.37:g.156562243C>T						APOA1BP_uc001fpg.2_Silent_p.V126V|APOA1BP_uc001fpi.2_Silent_p.V126V|APOA1BP_uc001fpj.2_Silent_p.V43V|APOA1BP_uc001fpk.2_Silent_p.V23V|APOA1BP_uc010php.1_Silent_p.V23V	p.V126V	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN			3	417	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		126			YjeF N-terminal.			Silent	SNP	ENST00000368235.3	37	c.378C>T	CCDS1145.1																																																																																				0.582	APOA1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081044.1		NM_144772		34	122	0	0	0	1	0	34	122		
APOA1BP	128240	broad.mit.edu	37	1	156562250	156562250	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:156562250C>G	ENST00000368235.3	+	3	428	c.385C>G	c.(385-387)Cga>Gga	p.R129G	APOA1BP_ENST00000368234.3_Missense_Mutation_p.R129G|APOA1BP_ENST00000368233.3_Missense_Mutation_p.R129G|APOA1BP_ENST00000467374.1_3'UTR	NM_144772.2	NP_658985.2			apolipoprotein A-I binding protein											central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGTCTGTGCTCGACACCTCAA	0.587																																						uc001fph.2		NaN																	0				central_nervous_system(1)	1						c.(385-387)CGA>GGA		apolipoprotein A-I binding protein precursor							139.0	135.0	136.0					1																	156562250		2203	4300	6503	SO:0001583	missense	128240					extracellular region	protein binding	g.chr1:156562250C>G	AJ315849	CCDS1145.1	1q21	2008-08-14			ENSG00000163382	ENSG00000163382			18453	protein-coding gene	gene with protein product	"""apoA-I binding protein"""	608862				11991719, 17533573	Standard	NM_144772		Approved	AIBP, MGC119143, MGC119144, MGC119145, YJEFN1	uc001fph.3	Q8NCW5	OTTHUMG00000033206	ENST00000368235.3:c.385C>G	1.37:g.156562250C>G	ENSP00000357218:p.Arg129Gly					APOA1BP_uc001fpg.2_Missense_Mutation_p.R129G|APOA1BP_uc001fpi.2_Missense_Mutation_p.R129G|APOA1BP_uc001fpj.2_Missense_Mutation_p.R46G|APOA1BP_uc001fpk.2_Missense_Mutation_p.R26G|APOA1BP_uc010php.1_Missense_Mutation_p.R26G	p.R129G	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN			3	424	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		129			YjeF N-terminal.			Missense_Mutation	SNP	ENST00000368235.3	37	c.385C>G	CCDS1145.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356683	0.61293	.	.	ENSG00000163382	ENST00000446584;ENST00000368234;ENST00000368235;ENST00000368233	T;T;T	0.55930	0.49;0.49;0.49	4.41	2.38	0.29361	YjeF-related protein, N-terminal (5);	0.062472	0.64402	D	0.000011	T	0.67702	0.2921	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.977;1.0;1.0	T	0.72418	-0.4300	10	0.87932	D	0	-4.9334	9.9623	0.41704	0.1495:0.7042:0.1463:0.0	.	129;129;129	Q5T3I3;Q8NCW5;Q5T3I4	.;AIBP_HUMAN;.	G	147;129;129;129	ENSP00000357217:R129G;ENSP00000357218:R129G;ENSP00000357216:R129G	ENSP00000357216:R129G	R	+	1	2	APOA1BP	154828874	0.044000	0.20184	0.997000	0.53966	0.805000	0.45488	0.467000	0.22035	2.173000	0.68751	0.655000	0.94253	CGA		0.587	APOA1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081044.1		NM_144772		30	126	0	0	0	1	0	30	126		
FCRL1	115350	broad.mit.edu	37	1	157776905	157776905	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:157776905G>A	ENST00000368176.3	-	2	106	c.39C>T	c.(37-39)ctC>ctT	p.L13L	FCRL1_ENST00000491942.1_Silent_p.L13L|FCRL1_ENST00000489998.1_5'Flank|FCRL1_ENST00000358292.3_Silent_p.L13L	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAGGTTCACAGAGTGGAGCTG	0.478																																					GBM(54;482 1003 11223 30131 35730)	uc001frg.2		NaN																	0				skin(4)|ovary(3)	7						c.(37-39)CTC>CTT		Fc receptor-like 1 isoform 1 precursor							72.0	69.0	70.0					1																	157776905		2203	4300	6503	SO:0001819	synonymous_variant	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157776905G>A	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.39C>T	1.37:g.157776905G>A						FCRL1_uc001frh.2_Silent_p.L13L|FCRL1_uc001fri.2_Silent_p.L13L|FCRL1_uc001frj.2_RNA	p.L13L	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		2	152	-	all_hematologic(112;0.0378)		13					B2RE05|Q8N759|Q8NDI0|Q96PJ6	Silent	SNP	ENST00000368176.3	37	c.39C>T	CCDS1170.1																																																																																				0.478	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1		NM_052938		15	45	0	0	0	1	0	15	45		
KIRREL	55243	broad.mit.edu	37	1	158061274	158061274	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:158061274C>T	ENST00000359209.6	+	11	1466	c.1399C>T	c.(1399-1401)Cag>Tag	p.Q467*	KIRREL_ENST00000368173.3_Nonsense_Mutation_p.Q483*|KIRREL_ENST00000392272.2_Nonsense_Mutation_p.Q364*|KIRREL_ENST00000360089.4_Nonsense_Mutation_p.Q303*|KIRREL_ENST00000368172.1_Nonsense_Mutation_p.Q281*|KIRREL_ENST00000416935.2_Nonsense_Mutation_p.Q367*			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	467	Ig-like C2-type 5.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGCCGACTTTCAGACTCACTA	0.592																																						uc001frn.3		NaN																	0				ovary(1)	1						c.(1399-1401)CAG>TAG		kin of IRRE like precursor							151.0	131.0	137.0					1																	158061274		2203	4300	6503	SO:0001587	stop_gained	55243					integral to membrane		g.chr1:158061274C>T	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1399C>T	1.37:g.158061274C>T	ENSP00000352138:p.Gln467*					KIRREL_uc010pib.1_Nonsense_Mutation_p.Q367*|KIRREL_uc009wsq.2_Nonsense_Mutation_p.Q303*|KIRREL_uc001fro.3_Nonsense_Mutation_p.Q281*	p.Q467*	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN			11	1803	+	all_hematologic(112;0.0378)		467			Ig-like C2-type 5.|Extracellular (Potential).		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Nonsense_Mutation	SNP	ENST00000359209.6	37	c.1399C>T	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	C	43	10.478583	0.99412	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	.	.	.	5.13	5.13	0.70059	.	0.000000	0.41097	D	0.000957	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-27.4972	16.4324	0.83853	0.0:1.0:0.0:0.0	.	.	.	.	X	303;483;364;467;367;281	.	ENSP00000352138:Q467X	Q	+	1	0	KIRREL	156327898	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.914000	0.69964	2.539000	0.85634	0.563000	0.77884	CAG		0.592	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3		NM_018240		39	113	0	0	0	1	0	39	113		
SPTA1	6708	broad.mit.edu	37	1	158582706	158582706	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:158582706G>C	ENST00000368147.4	-	51	7215	c.7035C>G	c.(7033-7035)gaC>gaG	p.D2345E	SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2345	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGACTCCTTGTCAATCAGGA	0.478																																						uc001fst.1		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(7033-7035)GAC>GAG		spectrin, alpha, erythrocytic 1							101.0	95.0	97.0					1																	158582706		1943	4146	6089	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158582706G>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.7035C>G	1.37:g.158582706G>C	ENSP00000357129:p.Asp2345Glu						p.D2345E	NM_003126	NP_003117	P02549	SPTA1_HUMAN			51	7234	-	all_hematologic(112;0.0378)		2345			EF-hand 2.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.7035C>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469646	0.63625	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.20738	2.05;2.05	5.39	4.48	0.54585	EF-hand-like domain (1);	0.240725	0.21503	N	0.073500	T	0.13200	0.0320	L	0.44542	1.39	0.30687	N	0.751706	P	0.37612	0.602	B	0.43331	0.416	T	0.03739	-1.1008	10	0.72032	D	0.01	.	12.8913	0.58073	0.0787:0.0:0.9213:0.0	.	2345	P02549	SPTA1_HUMAN	E	2345;2342	ENSP00000357130:D2345E;ENSP00000357129:D2342E	ENSP00000357129:D2342E	D	-	3	2	SPTA1	156849330	1.000000	0.71417	0.999000	0.59377	0.868000	0.49771	4.018000	0.57174	1.495000	0.48549	0.655000	0.94253	GAC		0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3		NM_003126		10	44	0	0	0	1	0	10	44		
NCSTN	23385	broad.mit.edu	37	1	160323984	160323984	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:160323984C>T	ENST00000294785.5	+	11	1381	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	NCSTN_ENST00000368063.1_Missense_Mutation_p.S399F|NCSTN_ENST00000368065.4_Missense_Mutation_p.S161F|NCSTN_ENST00000535857.1_Missense_Mutation_p.S281F|NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000392212.4_Missense_Mutation_p.S399F	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	419					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCAAATCAGTCCCAGCCTCTC	0.552																																						uc001fvx.2		NaN																	0				ovary(1)|lung(1)	2						c.(1255-1257)TCC>TTC		nicastrin precursor							166.0	130.0	142.0					1																	160323984		2203	4300	6503	SO:0001583	missense	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160323984C>T	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.1256C>T	1.37:g.160323984C>T	ENSP00000294785:p.Ser419Phe					NCSTN_uc001fvy.2_Missense_Mutation_p.S399F|NCSTN_uc010pjf.1_Missense_Mutation_p.S281F|NCSTN_uc001fvz.2_Missense_Mutation_p.S199F|NCSTN_uc010pjg.1_Missense_Mutation_p.S161F	p.S419F	NM_015331	NP_056146	Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		11	1380	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		419			Extracellular (Potential).		Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	37	c.1256C>T	CCDS1203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.64|14.64	2.594876|2.594876	0.46318|0.46318	.|.	.|.	ENSG00000162736|ENSG00000162736	ENST00000424645;ENST00000435149|ENST00000294785;ENST00000368063;ENST00000535857;ENST00000368067;ENST00000392212;ENST00000368065;ENST00000424754	.|T;T;T;T;T;T	.|0.74632	.|-0.86;-0.86;-0.86;-0.86;-0.86;-0.86	5.3|5.3	4.35|4.35	0.52113|0.52113	.|.	.|0.184647	.|0.49305	.|D	.|0.000152	T|T	0.58395|0.58395	0.2119|0.2119	L|L	0.52905|0.52905	1.665|1.665	0.58432|0.58432	D|D	0.999992|0.999992	.|P;B;B	.|0.44690	.|0.841;0.07;0.086	.|B;B;B	.|0.36845	.|0.234;0.067;0.11	T|T	0.69731|0.69731	-0.5066|-0.5066	5|10	.|0.72032	.|D	.|0.01	-17.5867|-17.5867	14.0704|14.0704	0.64856|0.64856	0.1509:0.8491:0.0:0.0|0.1509:0.8491:0.0:0.0	.|.	.|281;399;419	.|F6Y097;Q92542-2;Q92542	.|.;.;NICA_HUMAN	S|F	255;96|419;399;281;126;399;161;163	.|ENSP00000294785:S419F;ENSP00000357042:S399F;ENSP00000442605:S281F;ENSP00000376047:S399F;ENSP00000357044:S161F;ENSP00000410124:S163F	.|ENSP00000294785:S419F	P|S	+|+	1|2	0|0	NCSTN|NCSTN	158590608|158590608	0.383000|0.383000	0.25156|0.25156	0.996000|0.996000	0.52242|0.52242	0.997000|0.997000	0.91878|0.91878	4.603000|4.603000	0.61105|0.61105	2.499000|2.499000	0.84300|0.84300	0.655000|0.655000	0.94253|0.94253	CCC|TCC		0.552	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1		NM_015331		26	95	0	0	0	1	0	26	95		
PFDN2	5202	broad.mit.edu	37	1	161071873	161071873	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:161071873C>G	ENST00000368010.3	-	3	337	c.253G>C	c.(253-255)Gag>Cag	p.E85Q	PFDN2_ENST00000468311.1_Intron	NM_012394.3	NP_036526.2	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	85					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	unfolded protein binding (GO:0051082)			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGCAGCACCTCTTTGACAGTT	0.517																																						uc001fxu.2		NaN																	0					0						c.(253-255)GAG>CAG		prefoldin subunit 2							124.0	107.0	113.0					1																	161071873		2203	4300	6503	SO:0001583	missense	5202				'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding	g.chr1:161071873C>G	AF165883	CCDS1217.1	1q23.3	2008-02-05	2006-02-24		ENSG00000143256	ENSG00000143256			8867	protein-coding gene	gene with protein product		613466	"""prefoldin 2"""			10051400	Standard	NM_012394		Approved		uc001fxu.3	Q9UHV9	OTTHUMG00000031481	ENST00000368010.3:c.253G>C	1.37:g.161071873C>G	ENSP00000356989:p.Glu85Gln						p.E85Q	NM_012394	NP_036526	Q9UHV9	PFD2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		3	303	-	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		85					Q9P0P7|Q9UN05	Missense_Mutation	SNP	ENST00000368010.3	37	c.253G>C	CCDS1217.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773376	0.90108	.	.	ENSG00000143256	ENST00000368010	T	0.53640	0.61	5.15	5.15	0.70609	Prefoldin beta-like (1);Prefoldin (1);	0.000000	0.85682	D	0.000000	T	0.69593	0.3128	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.75560	-0.3275	10	0.66056	D	0.02	-25.6176	16.1656	0.81754	0.0:1.0:0.0:0.0	.	85	Q9UHV9	PFD2_HUMAN	Q	85	ENSP00000356989:E85Q	ENSP00000356989:E85Q	E	-	1	0	PFDN2	159338497	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.459000	0.73513	2.677000	0.91161	0.561000	0.74099	GAG		0.517	PFDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077100.1		NM_012394		19	49	0	0	0	1	0	19	49		
PPOX	5498	broad.mit.edu	37	1	161137269	161137269	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:161137269G>T	ENST00000367999.4	+	4	597	c.331G>T	c.(331-333)Ggc>Tgc	p.G111C	PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.G111C	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	111					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCTACCCACTGGCCTCAGGTA	0.507																																						uc001fyj.2		NaN																	0				ovary(1)	1						c.(331-333)GGC>TGC		protoporphyrinogen oxidase							44.0	41.0	42.0					1																	161137269		2203	4300	6503	SO:0001583	missense	5498	Porphyria_Variegata			heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	g.chr1:161137269G>T	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.331G>T	1.37:g.161137269G>T	ENSP00000356978:p.Gly111Cys					PPOX_uc001fyn.2_Intron|PPOX_uc001fyg.2_Missense_Mutation_p.G111C|PPOX_uc001fyl.2_Missense_Mutation_p.G77C|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_5'UTR|PPOX_uc001fyh.2_5'UTR|PPOX_uc010pkg.1_5'UTR|PPOX_uc009wuc.1_5'UTR|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_5'UTR	p.G111C	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		4	621	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		111					D3DVG0|Q5VTW8	Missense_Mutation	SNP	ENST00000367999.4	37	c.331G>T	CCDS1221.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499182	0.64298	.	.	ENSG00000143224	ENST00000352210;ENST00000367999;ENST00000435935	D;D	0.96491	-4.03;-4.03	4.55	4.55	0.56014	Amine oxidase (1);	0.112195	0.64402	D	0.000010	D	0.97074	0.9044	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.97021	0.9743	10	0.87932	D	0	-5.8906	7.0176	0.24897	0.1872:0.0:0.8128:0.0	.	111	P50336	PPOX_HUMAN	C	111;111;116	ENSP00000343943:G111C;ENSP00000356978:G111C	ENSP00000343943:G111C	G	+	1	0	PPOX	159403893	0.999000	0.42202	0.990000	0.47175	0.770000	0.43624	3.449000	0.52950	2.520000	0.84964	0.491000	0.48974	GGC		0.507	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1		NM_000309		8	44	1	0	0.000157383	1	0.000159646	8	44		
ATF6	22926	broad.mit.edu	37	1	161753803	161753803	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:161753803C>T	ENST00000367942.3	+	4	338	c.271C>T	c.(271-273)Cag>Tag	p.Q91*		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	91	Transcription activation.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	GGCAGAACCTCAGCCACTTTC	0.398																																						uc001gbr.2		NaN																	0				ovary(2)|skin(1)	3						c.(271-273)CAG>TAG		activating transcription factor 6							146.0	144.0	145.0					1																	161753803		2203	4300	6503	SO:0001587	stop_gained	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161753803C>T	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.271C>T	1.37:g.161753803C>T	ENSP00000356919:p.Gln91*					ATF6_uc001gbq.1_Nonsense_Mutation_p.Q91*	p.Q91*	NM_007348	NP_031374	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		4	338	+	all_hematologic(112;0.156)		91			Cytoplasmic (Potential).|Transcription activation.		O15139|Q5VW62|Q6IPB5|Q9UEC9	Nonsense_Mutation	SNP	ENST00000367942.3	37	c.271C>T	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	C	37	6.235547	0.97399	.	.	ENSG00000118217	ENST00000367942	.	.	.	5.45	5.45	0.79879	.	0.205940	0.42172	D	0.000753	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-4.5906	14.808	0.69971	0.0:1.0:0.0:0.0	.	.	.	.	X	91	.	ENSP00000356919:Q91X	Q	+	1	0	ATF6	160020427	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.867000	0.48428	2.550000	0.86006	0.655000	0.94253	CAG		0.398	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2		NM_007348		24	110	0	0	0	1	0	24	110		
NOS1AP	9722	broad.mit.edu	37	1	162337072	162337072	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:162337072G>C	ENST00000361897.5	+	10	1738	c.1336G>C	c.(1336-1338)Gag>Cag	p.E446Q	NOS1AP_ENST00000530878.1_Missense_Mutation_p.E441Q|NOS1AP_ENST00000493151.1_Missense_Mutation_p.E151Q|NOS1AP_ENST00000454693.1_3'UTR|RP11-565P22.6_ENST00000431696.1_Intron	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	446					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AGCGCAGGGCGAGGCGCTCCT	0.667																																						uc001gbv.2		NaN																	0				lung(2)|upper_aerodigestive_tract(1)	3						c.(1336-1338)GAG>CAG		nitric oxide synthase 1 (neuronal) adaptor							24.0	27.0	26.0					1																	162337072		2201	4299	6500	SO:0001583	missense	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162337072G>C	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.1336G>C	1.37:g.162337072G>C	ENSP00000355133:p.Glu446Gln					NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Missense_Mutation_p.E441Q|NOS1AP_uc009wut.1_Missense_Mutation_p.E151Q	p.E446Q	NM_014697	NP_055512	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		10	1723	+	all_hematologic(112;0.203)		446					B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	ENST00000361897.5	37	c.1336G>C	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	G	8.877	0.950667	0.18431	.	.	ENSG00000198929	ENST00000530878;ENST00000361897;ENST00000493151	T;T	0.78595	-1.19;-1.19	4.99	-2.83	0.05769	.	1.845610	0.02215	N	0.063486	T	0.46908	0.1417	N	0.19112	0.55	.	.	.	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.06405	0.001;0.0;0.002	T	0.31558	-0.9939	9	0.37606	T	0.19	.	13.7954	0.63168	0.0:0.6052:0.2813:0.1136	.	151;441;446	Q3T551;B7ZLF5;O75052	.;.;CAPON_HUMAN	Q	441;446;151	ENSP00000431586:E441Q;ENSP00000355133:E446Q	ENSP00000355133:E446Q	E	+	1	0	NOS1AP	160603696	0.525000	0.26290	0.000000	0.03702	0.106000	0.19336	1.205000	0.32308	-0.345000	0.08325	-0.165000	0.13383	GAG		0.667	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2		NM_014697		17	56	0	0	0	1	0	17	56		
UHMK1	127933	broad.mit.edu	37	1	162482610	162482610	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:162482610G>A	ENST00000489294.1	+	6	1179	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	UHMK1_ENST00000545294.1_Missense_Mutation_p.E267K|UHMK1_ENST00000538489.1_Missense_Mutation_p.E341K|UHMK1_ENST00000282169.8_3'UTR	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	341	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176, ECO:0000305}.				cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AGAGGAATATGAAGGTTAGTG	0.328																																						uc001gcc.1		NaN																	0					0						c.(1021-1023)GAA>AAA		kinase interacting stathmin							121.0	120.0	120.0					1																	162482610		2203	4300	6503	SO:0001583	missense	127933				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding	g.chr1:162482610G>A	BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"""RNA binding motif (RRM) containing"""	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.1021G>A	1.37:g.162482610G>A	ENSP00000420270:p.Glu341Lys					UHMK1_uc001gcb.1_Missense_Mutation_p.E267K|UHMK1_uc009wuu.1_Missense_Mutation_p.E341K	p.E341K	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		6	1157	+	all_hematologic(112;0.115)		341			RRM.		A8K8K4|G3V1M1|Q96C22	Missense_Mutation	SNP	ENST00000489294.1	37	c.1021G>A	CCDS1239.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175210	0.78564	.	.	ENSG00000152332	ENST00000545294;ENST00000538489;ENST00000489294	T;T;T	0.78003	-0.17;-1.14;-1.01	4.86	4.86	0.63082	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.80025	0.4548	L	0.52905	1.665	.	.	.	B;D;B	0.57571	0.05;0.98;0.361	B;D;B	0.68192	0.084;0.956;0.133	T	0.75915	-0.3149	9	0.25106	T	0.35	-12.9312	15.18	0.72947	0.0:0.0:1.0:0.0	.	341;341;267	Q8TAS1-2;Q8TAS1;G3V1M1	.;UHMK1_HUMAN;.	K	267;341;341	ENSP00000441226:E267K;ENSP00000446416:E341K;ENSP00000420270:E341K	ENSP00000420270:E341K	E	+	1	0	UHMK1	160749234	1.000000	0.71417	1.000000	0.80357	0.388000	0.30384	8.657000	0.91106	2.689000	0.91719	0.655000	0.94253	GAA		0.328	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076788.1		NM_175866		35	81	0	0	0	1	0	35	81		
PBX1	5087	broad.mit.edu	37	1	164769035	164769035	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:164769035A>C	ENST00000420696.2	+	4	798	c.610A>C	c.(610-612)Atc>Ctc	p.I204L	PBX1_ENST00000560641.1_Missense_Mutation_p.I99L|PBX1_ENST00000540246.1_Missense_Mutation_p.I99L|PBX1_ENST00000367897.1_Missense_Mutation_p.I204L|PBX1_ENST00000559240.1_Missense_Mutation_p.I204L|PBX1_ENST00000401534.1_Missense_Mutation_p.I204L|PBX1_ENST00000540236.1_Missense_Mutation_p.I204L	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	204					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GGTCAGCATCATCCACCGCAA	0.587			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																	uc001gct.2		NaN		Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"""L, M"""	TCF3|EWSR1		pre B-ALL|myoepithelioma	EWSR1/PBX1(3)	0				soft_tissue(3)|lung(1)|skin(1)	5						c.(610-612)ATC>CTC		pre-B-cell leukemia homeobox 1							119.0	93.0	102.0					1																	164769035		2203	4300	6503	SO:0001583	missense	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164769035A>C	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.610A>C	1.37:g.164769035A>C	ENSP00000405890:p.Ile204Leu					PBX1_uc010pku.1_Missense_Mutation_p.I204L|PBX1_uc010pkv.1_Missense_Mutation_p.I121L|PBX1_uc001gcs.2_Missense_Mutation_p.I204L|PBX1_uc010pkw.1_Missense_Mutation_p.I94L	p.I204L	NM_002585	NP_002576	P40424	PBX1_HUMAN			4	868	+			204					B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	ENST00000420696.2	37	c.610A>C	CCDS1246.1	.	.	.	.	.	.	.	.	.	.	A	36	5.721629	0.96839	.	.	ENSG00000185630	ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534;ENST00000540246	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	5.76	5.76	0.90799	PBX (1);	0.000000	0.85682	D	0.000000	T	0.57140	0.2033	M	0.87758	2.905	.	.	.	P;D;P;D;D	0.61080	0.887;0.975;0.918;0.975;0.989	P;D;P;D;D	0.67900	0.896;0.954;0.882;0.954;0.954	T	0.65734	-0.6096	9	0.56958	D	0.05	-14.8513	15.7457	0.77939	1.0:0.0:0.0:0.0	.	99;204;204;204;204	B7Z774;A8K5V0;F5H4U9;P40424;Q53YC7	.;.;.;PBX1_HUMAN;.	L	204;204;204;204;99	ENSP00000405890:I204L;ENSP00000356872:I204L;ENSP00000439943:I204L;ENSP00000384856:I204L;ENSP00000440869:I99L	ENSP00000356872:I204L	I	+	1	0	PBX1	163035659	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.832000	0.92079	2.191000	0.70037	0.533000	0.62120	ATC		0.587	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4		NM_002585		15	52	0	0	0	1	0	15	52		
CD247	919	broad.mit.edu	37	1	167409970	167409970	+	Silent	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:167409970G>T	ENST00000362089.5	-	2	165	c.93C>A	c.(91-93)ctC>ctA	p.L31L	CD247_ENST00000483825.1_5'UTR|CD247_ENST00000392122.3_Silent_p.L31L			P20963	CD3Z_HUMAN	CD247 molecule	31					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)		Muromonab(DB00075)	GCAGGTAGCAGAGTTTGGGAT	0.547																																					Ovarian(192;1815 2869 36877 43334)	uc001gei.3		NaN																	0					0						c.(91-93)CTC>CTA		T-cell receptor zeta chain isoform 1 precursor							109.0	91.0	97.0					1																	167409970		2203	4300	6503	SO:0001819	synonymous_variant	919				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity	g.chr1:167409970G>T	BC025703	CCDS1260.1, CCDS1261.1	1q24.2	2014-09-17	2006-03-28	2006-03-09	ENSG00000198821	ENSG00000198821		"""CD molecules"""	1677	protein-coding gene	gene with protein product		186780	"""CD3z antigen, zeta polypeptide (TiT3 complex)"", ""CD247 antigen"""	CD3Z		2974162	Standard	NM_198053		Approved	CD3H, CD3Q	uc001gei.4	P20963	OTTHUMG00000034593	ENST00000362089.5:c.93C>A	1.37:g.167409970G>T						CD247_uc001gej.3_Silent_p.L31L|CD247_uc001gek.2_Silent_p.L31L	p.L31L	NM_198053	NP_932170	P20963	CD3Z_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.236)		2	238	-			31			Helical; (Potential).		B1AK49|Q5VX13|Q8TAX4	Silent	SNP	ENST00000362089.5	37	c.93C>A	CCDS1261.1																																																																																				0.547	CD247-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083707.1		NM_198053		8	31	1	0	1	1	1	8	31		
F5	2153	broad.mit.edu	37	1	169528466	169528466	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:169528466C>G	ENST00000367797.3	-	5	856	c.655G>C	c.(655-657)Gat>Cat	p.D219H	F5_ENST00000546081.1_Missense_Mutation_p.D82H|F5_ENST00000367796.3_Missense_Mutation_p.D219H	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	219	F5/8 type A 1.|Plastocyanin-like 2.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TTGCTTTCATCAAACACAGCA	0.453																																						uc001ggg.1		NaN																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(655-657)GAT>CAT		coagulation factor V precursor	Drotrecogin alfa(DB00055)						174.0	134.0	147.0					1																	169528466		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169528466C>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.655G>C	1.37:g.169528466C>G	ENSP00000356771:p.Asp219His					F5_uc010plr.1_RNA	p.D219H	NM_000130	NP_000121	P12259	FA5_HUMAN			5	800	-	all_hematologic(923;0.208)		219			F5/8 type A 1.|Plastocyanin-like 2.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.655G>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971884	0.92919	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.99292	-5.7;-5.7;-5.7	5.95	5.95	0.96441	Cupredoxin (2);	0.044478	0.85682	D	0.000000	D	0.99651	0.9871	M	0.93638	3.44	0.39878	D	0.973607	D	0.89917	1.0	D	0.91635	0.999	D	0.98145	1.0438	9	0.87932	D	0	-26.146	20.3921	0.98947	0.0:1.0:0.0:0.0	.	219	P12259	FA5_HUMAN	H	219;219;82	ENSP00000356771:D219H;ENSP00000356770:D219H;ENSP00000439664:D82H	ENSP00000356770:D219H	D	-	1	0	F5	167795090	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.071000	0.64382	2.822000	0.97130	0.650000	0.86243	GAT		0.453	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1		NM_000130		20	74	0	0	0	1	0	20	74		
SUCO	51430	broad.mit.edu	37	1	172560143	172560143	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:172560143G>C	ENST00000263688.3	+	19	3064	c.2845G>C	c.(2845-2847)Gaa>Caa	p.E949Q	SUCO_ENST00000608151.1_Missense_Mutation_p.E1101Q|SUCO_ENST00000610051.1_Missense_Mutation_p.E578Q|SUCO_ENST00000367723.4_Missense_Mutation_p.E1100Q	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	949					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											ACAAATGGAAGAAATGCAAAA	0.318																																						uc001giq.3		NaN																	0				ovary(2)	2						c.(2845-2847)GAA>CAA		chromosome 1 open reading frame 9 protein							83.0	87.0	85.0					1																	172560143		2203	4300	6503	SO:0001583	missense	51430				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane		g.chr1:172560143G>C	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.2845G>C	1.37:g.172560143G>C	ENSP00000263688:p.Glu949Gln					C1orf9_uc010pmm.1_Missense_Mutation_p.E949Q|C1orf9_uc009wwd.2_Missense_Mutation_p.E905Q|C1orf9_uc010pmn.1_Missense_Mutation_p.E578Q|C1orf9_uc010pmo.1_RNA	p.E949Q	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)	19	3161	+		Breast(1374;0.212)	949			Potential.		B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	c.2845G>C	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962764	0.92791	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	T;T	0.48522	0.81;0.81	5.69	5.69	0.88448	.	0.135094	0.64402	D	0.000003	T	0.67316	0.2880	M	0.79926	2.475	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.997;0.995;0.998;0.998	T	0.70597	-0.4828	10	0.72032	D	0.01	-11.6766	18.3786	0.90443	0.0:0.0:1.0:0.0	.	578;949;1101;949	B4DYM4;B4DZJ3;Q5H945;Q9UBS9	.;.;.;OSPT_HUMAN	Q	1101;949	ENSP00000356696:E1101Q;ENSP00000263688:E949Q	ENSP00000263688:E949Q	E	+	1	0	C1orf9	170826766	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.381000	0.97205	2.687000	0.91594	0.650000	0.86243	GAA		0.318	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1		NM_016227		13	48	0	0	0	1	0	13	48		
ASTN1	460	broad.mit.edu	37	1	176998854	176998854	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:176998854C>A	ENST00000367654.3	-	5	1247	c.1036G>T	c.(1036-1038)Gaa>Taa	p.E346*	ASTN1_ENST00000367657.3_Nonsense_Mutation_p.E346*|ASTN1_ENST00000424564.2_Nonsense_Mutation_p.E346*|MIR488_ENST00000365739.2_RNA|ASTN1_ENST00000361833.2_Nonsense_Mutation_p.E346*|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	346					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAATCCCCTTCAGGGTTCAAG	0.493																																						uc001glc.2		NaN																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(1036-1038)GAA>TAA		astrotactin isoform 1							54.0	49.0	51.0					1																	176998854		2203	4300	6503	SO:0001587	stop_gained	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176998854C>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1036G>T	1.37:g.176998854C>A	ENSP00000356626:p.Glu346*					ASTN1_uc001glb.1_Nonsense_Mutation_p.E346*|ASTN1_uc001gld.1_Nonsense_Mutation_p.E346*|ASTN1_uc009wwx.1_Nonsense_Mutation_p.E346*|ASTN1_uc001gle.3_RNA|MIR488_hsa-mir-488|MI0003123_5'Flank	p.E346*	NM_004319	NP_004310	O14525	ASTN1_HUMAN			5	1248	-			346					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Nonsense_Mutation	SNP	ENST00000367654.3	37	c.1036G>T		.	.	.	.	.	.	.	.	.	.	C	38	6.842667	0.97881	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	.	.	.	5.03	5.03	0.67393	.	0.155330	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.8006	18.3563	0.90358	0.0:1.0:0.0:0.0	.	.	.	.	X	346	.	ENSP00000354536:E346X	E	-	1	0	ASTN1	175265477	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.061000	0.76699	2.469000	0.83416	0.650000	0.86243	GAA		0.493	ASTN1-201	KNOWN	basic	protein_coding	protein_coding			NM_004319		11	19	1	0	0.00829132	1	0.00836045	11	19		
NPHS2	7827	broad.mit.edu	37	1	179526245	179526245	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:179526245G>A	ENST00000367615.4	-	5	723	c.655C>T	c.(655-657)Caa>Taa	p.Q219*	NPHS2_ENST00000367616.4_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	219					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						ATAGTGGTTTGCACAAGGAAT	0.423																																						uc001gmq.3		NaN																	0					0						c.(655-657)CAA>TAA		podocin							130.0	107.0	115.0					1																	179526245		2203	4300	6503	SO:0001587	stop_gained	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179526245G>A	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.655C>T	1.37:g.179526245G>A	ENSP00000356587:p.Gln219*					NPHS2_uc009wxi.2_Intron	p.Q219*	NM_014625	NP_055440	Q9NP85	PODO_HUMAN			5	740	-			219			Cytoplasmic (Potential).		B1AM32|B1AM33|Q8N6Q5	Nonsense_Mutation	SNP	ENST00000367615.4	37	c.655C>T	CCDS1331.1	.	.	.	.	.	.	.	.	.	.	G	36	5.712465	0.96830	.	.	ENSG00000116218	ENST00000367615	.	.	.	5.93	5.01	0.66863	.	0.059415	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.046	15.9367	0.79717	0.0:0.1353:0.8647:0.0	.	.	.	.	X	219	.	ENSP00000356587:Q219X	Q	-	1	0	NPHS2	177792868	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.807000	0.62576	1.513000	0.48852	0.655000	0.94253	CAA		0.423	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1				8	41	0	0	0	1	0	8	41		
NPHS2	7827	broad.mit.edu	37	1	179526363	179526363	+	Silent	SNP	G	G	A	rs370260554		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:179526363G>A	ENST00000367615.4	-	5	605	c.537C>T	c.(535-537)atC>atT	p.I179I	NPHS2_ENST00000367616.4_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	179					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						CTTTGGTCACGATCTAGGCAG	0.413																																						uc001gmq.3		NaN																	0					0						c.(535-537)ATC>ATT		podocin		G		1,4405	2.1+/-5.4	0,1,2202	95.0	88.0	90.0		537	-0.4	1.0	1		90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NPHS2	NM_014625.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		179/384	179526363	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179526363G>A	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.537C>T	1.37:g.179526363G>A						NPHS2_uc009wxi.2_Intron	p.I179I	NM_014625	NP_055440	Q9NP85	PODO_HUMAN			5	622	-			179			Cytoplasmic (Potential).		B1AM32|B1AM33|Q8N6Q5	Silent	SNP	ENST00000367615.4	37	c.537C>T	CCDS1331.1																																																																																				0.413	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1				12	39	0	0	0	1	0	12	39		
SWT1	54823	broad.mit.edu	37	1	185143554	185143554	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:185143554C>T	ENST00000367500.4	+	5	440	c.275C>T	c.(274-276)tCa>tTa	p.S92L	SWT1_ENST00000367501.3_Missense_Mutation_p.S92L	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	92										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						ATCGGTTCTTCATCCCAAAGA	0.313																																						uc001grg.3		NaN																	0					0						c.(274-276)TCA>TTA		hypothetical protein LOC54823							33.0	35.0	34.0					1																	185143554		2200	4298	6498	SO:0001583	missense	54823							g.chr1:185143554C>T	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.275C>T	1.37:g.185143554C>T	ENSP00000356470:p.Ser92Leu					C1orf26_uc001grh.3_Missense_Mutation_p.S92L	p.S92L	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN			5	389	+			92					Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.275C>T	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298173	0.40694	.	.	ENSG00000116668	ENST00000367501;ENST00000367500;ENST00000450350	T;T;T	0.62364	1.63;1.63;0.03	5.62	2.67	0.31697	.	0.189042	0.26187	N	0.025826	T	0.50888	0.1642	M	0.63843	1.955	0.31304	N	0.68798	B	0.24920	0.114	B	0.21360	0.034	T	0.47275	-0.9130	10	0.15499	T	0.54	.	6.2868	0.21037	0.0:0.5559:0.2855:0.1586	.	92	Q5T5J6	SWT1_HUMAN	L	92	ENSP00000356471:S92L;ENSP00000356470:S92L;ENSP00000401413:S92L	ENSP00000356470:S92L	S	+	2	0	SWT1	183410177	0.999000	0.42202	0.674000	0.29902	0.761000	0.43186	0.785000	0.26830	0.375000	0.24679	0.557000	0.71058	TCA		0.313	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1		NM_017673		3	17	0	0	0	1	0	3	17		
TPR	7175	broad.mit.edu	37	1	186320521	186320521	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:186320521G>C	ENST00000367478.4	-	20	2847	c.2551C>G	c.(2551-2553)Cta>Gta	p.L851V	TPR_ENST00000474852.1_5'Flank	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	851					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)			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)		TTCTTCTTTAGATGAGAGATC	0.378			T	NTRK1	papillary thyroid																																	uc001grv.2		NaN		Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(2551-2553)CTA>GTA		nuclear pore complex-associated protein TPR							186.0	161.0	169.0					1																	186320521		1828	4077	5905	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.chr1:186320521G>C	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.2551C>G	1.37:g.186320521G>C	ENSP00000356448:p.Leu851Val						p.L851V	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	20	2848	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	851			Potential.		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.2551C>G	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198792	0.58126	.	.	ENSG00000047410	ENST00000367478	T	0.29655	1.56	5.79	3.89	0.44902	.	0.143018	0.48286	D	0.000188	T	0.20901	0.0503	L	0.55481	1.735	0.41542	D	0.988523	P	0.34864	0.473	B	0.28553	0.091	T	0.03651	-1.1016	10	0.09338	T	0.73	.	7.3217	0.26531	0.1409:0.0:0.7223:0.1368	.	851	P12270	TPR_HUMAN	V	851	ENSP00000356448:L851V	ENSP00000356448:L851V	L	-	1	2	TPR	184587144	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.677000	0.54619	1.416000	0.47057	0.557000	0.71058	CTA		0.378	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2		NM_003292		13	48	0	0	0	1	0	13	48		
ZNF281	23528	broad.mit.edu	37	1	200377314	200377314	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:200377314G>C	ENST00000294740.3	-	2	1644	c.1520C>G	c.(1519-1521)tCa>tGa	p.S507*	ZNF281_ENST00000367352.3_Nonsense_Mutation_p.S471*|ZNF281_ENST00000367353.1_Nonsense_Mutation_p.S507*	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	507					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						ACTATTATTTGATACTATGCC	0.373																																						uc001gve.2		NaN																	0				ovary(1)|breast(1)	2						c.(1519-1521)TCA>TGA		zinc finger protein 281							83.0	80.0	81.0					1																	200377314		2203	4300	6503	SO:0001587	stop_gained	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200377314G>C	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.1520C>G	1.37:g.200377314G>C	ENSP00000294740:p.Ser507*					ZNF281_uc001gvf.1_Nonsense_Mutation_p.S507*|ZNF281_uc001gvg.1_Nonsense_Mutation_p.S471*	p.S507*	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN			2	1627	-			507					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Nonsense_Mutation	SNP	ENST00000294740.3	37	c.1520C>G	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696752	0.88830	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	.	.	.	5.63	5.63	0.86233	.	0.367221	0.27720	N	0.018130	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-6.4613	15.2017	0.73142	0.0:0.1402:0.8598:0.0	.	.	.	.	X	507;507;471;212	.	ENSP00000294740:S507X	S	-	2	0	ZNF281	198643937	0.299000	0.24426	0.012000	0.15200	0.924000	0.55760	3.526000	0.53509	2.641000	0.89580	0.650000	0.86243	TCA		0.373	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2		NM_012482		26	44	0	0	0	1	0	26	44		
C1orf106	55765	broad.mit.edu	37	1	200880791	200880791	+	Silent	SNP	C	C	T	rs201583008		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:200880791C>T	ENST00000367342.4	+	9	1625	c.1425C>T	c.(1423-1425)ccC>ccT	p.P475P	C1orf106_ENST00000413687.2_Silent_p.P390P	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	475										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GCAGCAGCCCCGACATCTCCT	0.692																																						uc001gvo.2		NaN																	0				skin(2)|ovary(1)	3						c.(1423-1425)CCC>CCT		hypothetical protein LOC55765 isoform 1							63.0	66.0	65.0					1																	200880791		2203	4300	6503	SO:0001819	synonymous_variant	55765							g.chr1:200880791C>T	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1425C>T	1.37:g.200880791C>T						C1orf106_uc010ppm.1_Silent_p.P390P	p.P475P	NM_018265	NP_060735	Q3KP66	CA106_HUMAN			9	1455	+			475					B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Silent	SNP	ENST00000367342.4	37	c.1425C>T																																																																																					0.692	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2		NM_018265		76	180	0	0	0	1	0	76	180		
CACNA1S	779	broad.mit.edu	37	1	201017798	201017798	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:201017798C>T	ENST00000362061.3	-	36	4579	c.4353G>A	c.(4351-4353)atG>atA	p.M1451I	CACNA1S_ENST00000367338.3_Missense_Mutation_p.M1432I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1451					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGGCATGTTCATGCCCACCA	0.617																																						uc001gvv.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(4351-4353)ATG>ATA		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						75.0	57.0	63.0					1																	201017798		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201017798C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.4353G>A	1.37:g.201017798C>T	ENSP00000355192:p.Met1451Ile						p.M1451I	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			36	4580	-			1451			Cytoplasmic (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.4353G>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	32	5.181853	0.94885	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	T;T	0.09073	3.02;3.02	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.41351	0.1155	M	0.93197	3.39	0.80722	D	1	D	0.62365	0.991	D	0.75020	0.985	T	0.56208	-0.8017	10	0.87932	D	0	.	18.9749	0.92731	0.0:1.0:0.0:0.0	.	1451	Q13698	CAC1S_HUMAN	I	1451;1432	ENSP00000355192:M1451I;ENSP00000356307:M1432I	ENSP00000355192:M1451I	M	-	3	0	CACNA1S	199284421	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.745000	0.85046	2.549000	0.85964	0.557000	0.71058	ATG		0.617	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1		NM_000069		10	34	0	0	0	1	0	10	34		
CACNA1S	779	broad.mit.edu	37	1	201019552	201019552	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:201019552G>C	ENST00000362061.3	-	34	4432	c.4206C>G	c.(4204-4206)ttC>ttG	p.F1402L	CACNA1S_ENST00000367338.3_Missense_Mutation_p.F1383L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1402	Dihydropyridine binding. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGATGGCCTTGAACTCATCCA	0.547																																						uc001gvv.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(4204-4206)TTC>TTG		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						90.0	86.0	87.0					1																	201019552		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201019552G>C	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.4206C>G	1.37:g.201019552G>C	ENSP00000355192:p.Phe1402Leu						p.F1402L	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			34	4433	-			1402			Dihydropyridine binding (By similarity).|Cytoplasmic (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.4206C>G	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	19.64	3.865511	0.71949	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	T;T	0.06068	3.35;3.35	4.5	2.58	0.30949	.	0.099330	0.64402	D	0.000001	T	0.27832	0.0685	M	0.92833	3.35	0.46749	D	0.999185	D	0.69078	0.997	D	0.81914	0.995	T	0.04294	-1.0962	10	0.87932	D	0	.	7.8374	0.29378	0.2571:0.0:0.7429:0.0	.	1402	Q13698	CAC1S_HUMAN	L	1402;1383	ENSP00000355192:F1402L;ENSP00000356307:F1383L	ENSP00000355192:F1402L	F	-	3	2	CACNA1S	199286175	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.286000	0.51724	1.010000	0.39314	0.491000	0.48974	TTC		0.547	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1		NM_000069		25	52	0	0	0	1	0	25	52		
CACNA1S	779	broad.mit.edu	37	1	201079390	201079390	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:201079390C>G	ENST00000362061.3	-	2	386	c.160G>C	c.(160-162)Gag>Cag	p.E54Q	CACNA1S_ENST00000367338.3_Missense_Mutation_p.E54Q	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	54					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ATGATCGTCTCGAAGGGCCTG	0.577																																						uc001gvv.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(160-162)GAG>CAG		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						131.0	102.0	112.0					1																	201079390		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201079390C>G	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.160G>C	1.37:g.201079390C>G	ENSP00000355192:p.Glu54Gln						p.E54Q	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			2	387	-			54			I.|Helical; Name=S1 of repeat I; (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.160G>C	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943038	0.92526	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	T;T	0.75050	-0.9;-0.9	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.89887	0.6845	M	0.93197	3.39	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.92686	0.6162	10	0.87932	D	0	.	17.9499	0.89050	0.0:1.0:0.0:0.0	.	54	Q13698	CAC1S_HUMAN	Q	54	ENSP00000355192:E54Q;ENSP00000356307:E54Q	ENSP00000355192:E54Q	E	-	1	0	CACNA1S	199346013	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.400000	0.79949	2.388000	0.81334	0.561000	0.74099	GAG		0.577	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1		NM_000069		26	70	0	0	0	1	0	26	70		
GPR37L1	9283	broad.mit.edu	37	1	202092471	202092471	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:202092471C>G	ENST00000367282.5	+	1	486	c.380C>G	c.(379-381)tCc>tGc	p.S127C		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	127					negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						ACCGAGAGCTCCTACAGTGCC	0.597																																						uc001gxj.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(379-381)TCC>TGC		G-protein coupled receptor 37 like 1 precursor							185.0	153.0	164.0					1																	202092471		2203	4300	6503	SO:0001583	missense	9283					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr1:202092471C>G	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.380C>G	1.37:g.202092471C>G	ENSP00000356251:p.Ser127Cys						p.S127C	NM_004767	NP_004758	O60883	ETBR2_HUMAN			1	443	+			127			Extracellular (Potential).		B2R7M9|Q5SXP7|Q86VP7	Missense_Mutation	SNP	ENST00000367282.5	37	c.380C>G	CCDS1420.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797460	0.70567	.	.	ENSG00000170075	ENST00000367282	T	0.38560	1.13	5.13	5.13	0.70059	.	0.065261	0.64402	D	0.000005	T	0.65228	0.2671	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.68682	-0.5344	10	0.66056	D	0.02	-44.3177	18.1765	0.89764	0.0:1.0:0.0:0.0	.	127	O60883	ETBR2_HUMAN	C	127	ENSP00000356251:S127C	ENSP00000356251:S127C	S	+	2	0	GPR37L1	200359094	1.000000	0.71417	0.997000	0.53966	0.800000	0.45204	6.068000	0.71201	2.370000	0.80446	0.462000	0.41574	TCC		0.597	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2		NM_004767		22	67	0	0	0	1	0	22	67		
BTG2	7832	broad.mit.edu	37	1	203274737	203274737	+	Start_Codon_SNP	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:203274737G>A	ENST00000290551.4	+	1	74	c.3G>A	c.(1-3)atG>atA	p.M1I	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	1					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.M1I(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			CGCGCGACATGAGCCACGGGA	0.697																																						uc001gzq.2		NaN																	1	Substitution - Missense(1)	p.M1I(1)	ovary(1)	ovary(1)|kidney(1)|skin(1)	3						c.(1-3)ATG>ATA		B-cell translocation gene 2							18.0	14.0	16.0					1																	203274737		2181	4284	6465	SO:0001582	initiator_codon_variant	7832				DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr1:203274737G>A		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"""B-cell translocation gene 2"", ""pheochromacytoma cell-3"", ""NGF-inducible anti-proliferative protein PC3"", ""nerve growth factor-inducible anti-proliferative"""	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.3G>A	1.37:g.203274737G>A	ENSP00000290551:p.Met1Ile					FMOD_uc010pqi.1_Intron|uc009xao.1_5'Flank|uc001gzp.1_5'Flank|BTG2_uc009xap.1_RNA	p.M1I	NM_006763	NP_006754	P78543	BTG2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.203)		1	74	+			1					A0A024R986|Q3KR25|Q5VUT0	Missense_Mutation	SNP	ENST00000290551.4	37	c.3G>A	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536784	0.85812	.	.	ENSG00000159388	ENST00000290551	T	0.21191	2.02	4.66	4.66	0.58398	.	1.001540	0.08052	N	0.996811	T	0.22282	0.0537	.	.	.	0.36681	D	0.879047	B	0.10296	0.003	B	0.04013	0.001	T	0.07578	-1.0765	9	0.87932	D	0	-3.8598	14.3791	0.66900	0.0:0.0:1.0:0.0	.	1	P78543	BTG2_HUMAN	I	1	ENSP00000290551:M1I	ENSP00000290551:M1I	M	+	3	0	BTG2	201541360	1.000000	0.71417	0.988000	0.46212	0.926000	0.56050	4.629000	0.61290	2.425000	0.82216	0.478000	0.44815	ATG		0.697	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1		NM_006763	Missense_Mutation	3	10	0	0	0	1	0	3	10		
ATP2B4	493	broad.mit.edu	37	1	203667470	203667470	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:203667470G>A	ENST00000357681.5	+	3	1502	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	ATP2B4_ENST00000367218.3_Missense_Mutation_p.E127K|ATP2B4_ENST00000367219.3_Missense_Mutation_p.E127K|ATP2B4_ENST00000341360.2_Missense_Mutation_p.E127K|ATP2B4_ENST00000391954.2_Missense_Mutation_p.E127K	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	127					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCCTGCTGGTGAAGAAAATGA	0.488																																						uc001gzw.2		NaN																	0				ovary(2)|skin(1)	3						c.(379-381)GAA>AAA		plasma membrane calcium ATPase 4 isoform 4b							126.0	106.0	113.0					1																	203667470		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203667470G>A	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.379G>A	1.37:g.203667470G>A	ENSP00000350310:p.Glu127Lys					ATP2B4_uc001gzv.2_Missense_Mutation_p.E127K|ATP2B4_uc009xaq.2_Missense_Mutation_p.E127K	p.E127K	NM_001684	NP_001675	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		3	1263	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		127			Extracellular (Potential).		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.379G>A	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.710395	0.30322	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.93247	-3.18;-3.19;-3.18;-3.17;-3.19	5.25	3.36	0.38483	ATPase,  P-type, cytoplasmic transduction domain A (1);	1.196700	0.06137	N	0.671738	D	0.90967	0.7160	L	0.42744	1.35	0.09310	N	1	B;B;B	0.20887	0.049;0.002;0.049	B;B;B	0.26310	0.068;0.027;0.026	T	0.79605	-0.1734	10	0.32370	T	0.25	0.0044	11.2661	0.49112	0.1511:0.0:0.8489:0.0	.	127;127;127	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	K	127	ENSP00000350310:E127K;ENSP00000356187:E127K;ENSP00000356188:E127K;ENSP00000375816:E127K;ENSP00000340930:E127K	ENSP00000340930:E127K	E	+	1	0	ATP2B4	201934093	1.000000	0.71417	0.001000	0.08648	0.008000	0.06430	5.736000	0.68597	1.227000	0.43598	0.655000	0.94253	GAA		0.488	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1		NM_001001396		27	76	0	0	0	1	0	27	76		
NUAK2	81788	broad.mit.edu	37	1	205280856	205280856	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:205280856G>A	ENST00000367157.3	-	2	455	c.329C>T	c.(328-330)cCt>cTt	p.P110L		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AATGATGTGAGGGTGGTTGAG	0.473																																						uc001hce.2		NaN																	0				ovary(3)|stomach(1)|breast(1)	5						c.(328-330)CCT>CTT		NUAK family, SNF1-like kinase, 2							417.0	291.0	333.0					1																	205280856		2203	4300	6503	SO:0001583	missense	81788				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:205280856G>A	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.329C>T	1.37:g.205280856G>A	ENSP00000356125:p.Pro110Leu					NUAK2_uc009xbj.1_5'Flank	p.P110L	NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		2	456	-	Breast(84;0.186)		110			Protein kinase.			Missense_Mutation	SNP	ENST00000367157.3	37	c.329C>T	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961678	0.92791	.	.	ENSG00000163545	ENST00000367157	T	0.33216	1.42	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44688	D	0.000430	T	0.64724	0.2624	M	0.93898	3.47	0.80722	D	1	D	0.69078	0.997	P	0.60609	0.877	T	0.75596	-0.3263	10	0.87932	D	0	.	18.8417	0.92186	0.0:0.0:1.0:0.0	.	110	Q9H093	NUAK2_HUMAN	L	110	ENSP00000356125:P110L	ENSP00000356125:P110L	P	-	2	0	NUAK2	203547479	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.977000	0.88081	2.537000	0.85549	0.462000	0.41574	CCT		0.473	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1		NM_030952		12	49	0	0	0	1	0	12	49		
MAPKAPK2	9261	broad.mit.edu	37	1	206904055	206904055	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:206904055G>A	ENST00000367103.3	+	6	907	c.714G>A	c.(712-714)gaG>gaA	p.E238E	MAPKAPK2_ENST00000294981.4_Silent_p.E238E	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	238	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TGGGTCCAGAGAAGTATGACA	0.572																																						uc001hem.1		NaN																	0					0						c.(712-714)GAG>GAA		mitogen-activated protein kinase-activated							135.0	125.0	128.0					1																	206904055		2203	4300	6503	SO:0001819	synonymous_variant	9261				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr1:206904055G>A	U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.714G>A	1.37:g.206904055G>A						MAPKAPK2_uc001hel.1_Silent_p.E238E	p.E238E	NM_032960	NP_116584	P49137	MAPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		6	1000	+	Breast(84;0.183)		238			Protein kinase.		Q5SY30|Q5SY41|Q8IYD6	Silent	SNP	ENST00000367103.3	37	c.714G>A	CCDS31001.1																																																																																				0.572	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088465.1		NM_004759		30	80	0	0	0	1	0	30	80		
IL10	3586	broad.mit.edu	37	1	206944333	206944333	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:206944333C>T	ENST00000423557.1	-	3	355	c.297G>A	c.(295-297)gaG>gaA	p.E99E	IL10_ENST00000471071.1_5'UTR	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	99					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|defense response to bacterium (GO:0042742)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|leukocyte chemotaxis (GO:0030595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of chronic inflammatory response to antigenic stimulus (GO:0002875)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interferon-alpha biosynthetic process (GO:0045355)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of myeloid dendritic cell activation (GO:0030886)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of MHC class II biosynthetic process (GO:0045348)|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)|receptor biosynthetic process (GO:0032800)|regulation of gene expression (GO:0010468)|regulation of isotype switching (GO:0045191)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to carbon monoxide (GO:0034465)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to inactivity (GO:0014854)|response to insulin (GO:0032868)|response to molecule of bacterial origin (GO:0002237)|type 2 immune response (GO:0042092)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-10 receptor binding (GO:0005141)			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GGTCTTGGTTCTCAGCTTGGG	0.547																																						uc001hen.1		NaN																	0					0						c.(295-297)GAG>GAA		interleukin 10 precursor							153.0	145.0	148.0					1																	206944333		2203	4300	6503	SO:0001819	synonymous_variant	3586				anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding	g.chr1:206944333C>T	M57627	CCDS1467.1	1q31-q32	2011-07-14			ENSG00000136634	ENSG00000136634		"""Interleukins and interleukin receptors"""	5962	protein-coding gene	gene with protein product	"""cytokine synthesis inhibitory factor"", ""T-cell growth inhibitory factor"""	124092				9162098	Standard	NM_000572		Approved	CSIF, TGIF, IL10A, IL-10	uc001hen.1	P22301	OTTHUMG00000036386	ENST00000423557.1:c.297G>A	1.37:g.206944333C>T							p.E99E	NM_000572	NP_000563	P22301	IL10_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		3	356	-	Breast(84;0.183)		99						Silent	SNP	ENST00000423557.1	37	c.297G>A	CCDS1467.1																																																																																				0.547	IL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088564.3		NM_000572		39	110	0	0	0	1	0	39	110		
CR2	1380	broad.mit.edu	37	1	207651346	207651346	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:207651346G>T	ENST00000367058.3	+	15	3031	c.2842G>T	c.(2842-2844)Gaa>Taa	p.E948*	CR2_ENST00000458541.2_Nonsense_Mutation_p.E921*|CR2_ENST00000367057.3_Nonsense_Mutation_p.E1007*|CR2_ENST00000367059.3_Nonsense_Mutation_p.E886*	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	948	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GTATATGCTGGAAGGCAGTCC	0.522																																						uc001hfw.2		NaN																	0				upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.(2842-2844)GAA>TAA		complement component (3d/Epstein Barr virus)							120.0	107.0	111.0					1																	207651346		2203	4300	6503	SO:0001587	stop_gained	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207651346G>T	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2842G>T	1.37:g.207651346G>T	ENSP00000356025:p.Glu948*					CR2_uc001hfv.2_Nonsense_Mutation_p.E1007*|CR2_uc009xch.2_Nonsense_Mutation_p.E886*	p.E948*	NM_001877	NP_001868	P20023	CR2_HUMAN			15	2936	+			948			Sushi 15.|Extracellular (Potential).		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Nonsense_Mutation	SNP	ENST00000367058.3	37	c.2842G>T	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	G	37	6.398511	0.97533	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	15.0827	0.72127	0.0:0.0:1.0:0.0	.	.	.	.	X	948;1007;886;921	.	ENSP00000356024:E1007X	E	+	1	0	CR2	205717969	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	3.439000	0.52878	2.646000	0.89796	0.563000	0.77884	GAA		0.522	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1		NM_001877		11	39	1	0	9.70103e-10	1	1.01257e-09	11	39		
CR2	1380	broad.mit.edu	37	1	207651410	207651410	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:207651410G>T	ENST00000367058.3	+	15	3095	c.2906G>T	c.(2905-2907)aGa>aTa	p.R969I	CR2_ENST00000458541.2_Missense_Mutation_p.R942I|CR2_ENST00000367057.3_Missense_Mutation_p.R1028I|CR2_ENST00000367059.3_Missense_Mutation_p.R907I	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	969	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GCGGTTTGCAGATCCCGTAAG	0.532																																						uc001hfw.2		NaN																	0				upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.(2905-2907)AGA>ATA		complement component (3d/Epstein Barr virus)							72.0	66.0	68.0					1																	207651410		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207651410G>T	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2906G>T	1.37:g.207651410G>T	ENSP00000356025:p.Arg969Ile					CR2_uc001hfv.2_Missense_Mutation_p.R1028I|CR2_uc009xch.2_Missense_Mutation_p.R907I	p.R969I	NM_001877	NP_001868	P20023	CR2_HUMAN			15	3000	+			969			Sushi 15.|Extracellular (Potential).		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.2906G>T	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.865727	0.32977	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.73258	-0.73;-0.73;0.86;-0.73	5.59	-3.66	0.04489	Complement control module (2);Sushi/SCR/CCP (1);	.	.	.	.	T	0.56337	0.1978	N	0.20574	0.59	0.34458	D	0.701384	P;P;P	0.51351	0.944;0.791;0.887	B;B;P	0.48921	0.439;0.357;0.595	T	0.62124	-0.6920	9	0.62326	D	0.03	.	7.0174	0.24895	0.425:0.127:0.448:0.0	.	907;969;1028	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	I	969;1028;907;942	ENSP00000356025:R969I;ENSP00000356024:R1028I;ENSP00000356026:R907I;ENSP00000404222:R942I	ENSP00000356024:R1028I	R	+	2	0	CR2	205718033	0.449000	0.25689	0.207000	0.23584	0.206000	0.24218	0.007000	0.13174	-0.993000	0.03467	-0.253000	0.11424	AGA		0.532	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1		NM_001877		5	31	1	0	0.000157383	1	0.000159646	5	31		
CD34	947	broad.mit.edu	37	1	208062850	208062850	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:208062850C>T	ENST00000310833.7	-	5	1035	c.714G>A	c.(712-714)gtG>gtA	p.V238V	CD34_ENST00000356522.4_Silent_p.V238V|CD34_ENST00000367036.3_Silent_p.V80V|CD34_ENST00000537704.1_Silent_p.V103V|CD34_ENST00000485761.1_5'UTR	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	238					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						ACTGAGGCCTCACCTCAGACT	0.612																																						uc001hgw.1		NaN																	0				ovary(1)	1						c.(712-714)GTG>GTA		CD34 antigen isoform a							69.0	63.0	65.0					1																	208062850		2203	4300	6503	SO:0001819	synonymous_variant	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208062850C>T	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.714G>A	1.37:g.208062850C>T						CD34_uc001hgv.1_Silent_p.V80V|CD34_uc001hgx.1_Silent_p.V238V|CD34_uc010psj.1_Silent_p.V103V	p.V238V	NM_001025109	NP_001020280	P28906	CD34_HUMAN			5	972	-			238			Extracellular (Potential).		A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Silent	SNP	ENST00000310833.7	37	c.714G>A	CCDS31011.1																																																																																				0.612	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1		NM_001773		11	37	0	0	0	1	0	11	37		
LAMB3	3914	broad.mit.edu	37	1	209805953	209805953	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:209805953G>A	ENST00000356082.4	-	8	931	c.797C>T	c.(796-798)tCt>tTt	p.S266F	LAMB3_ENST00000391911.1_Missense_Mutation_p.S266F|LAMB3_ENST00000367030.3_Missense_Mutation_p.S266F	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	266	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGGGCCTGCAGAGGCCCCAGG	0.652																																						uc001hhg.2		NaN																	0				central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6						c.(796-798)TCT>TTT		laminin, beta 3 precursor							32.0	37.0	35.0					1																	209805953		2202	4299	6501	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209805953G>A	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.797C>T	1.37:g.209805953G>A	ENSP00000348384:p.Ser266Phe					LAMB3_uc009xco.2_Missense_Mutation_p.S266F|LAMB3_uc001hhh.2_Missense_Mutation_p.S266F|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Missense_Mutation_p.S202F	p.S266F	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	7	1187	-			266			Laminin EGF-like 1.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.797C>T	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.871344	0.51695	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.38401	1.14;1.14;1.14	4.5	4.5	0.54988	EGF-like, laminin (3);	1.051240	0.07373	N	0.886054	T	0.37785	0.1016	L	0.27053	0.805	0.09310	N	1	P;P	0.46142	0.873;0.794	P;P	0.49140	0.601;0.601	T	0.26643	-1.0097	10	0.56958	D	0.05	.	10.9981	0.47589	0.0878:0.0:0.9122:0.0	.	266;266	B4DL55;Q13751	.;LAMB3_HUMAN	F	266	ENSP00000375778:S266F;ENSP00000348384:S266F;ENSP00000355997:S266F	ENSP00000348384:S266F	S	-	2	0	LAMB3	207872576	0.007000	0.16637	0.006000	0.13384	0.018000	0.09664	0.821000	0.27338	2.504000	0.84457	0.555000	0.69702	TCT		0.652	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2		NM_000228		24	53	0	0	0	1	0	24	53		
SYT14	255928	broad.mit.edu	37	1	210273593	210273593	+	Missense_Mutation	SNP	G	G	C	rs559975576		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:210273593G>C	ENST00000472886.1	+	6	965	c.951G>C	c.(949-951)caG>caC	p.Q317H	SYT14_ENST00000271745.7_Intron|SYT14_ENST00000367019.1_Missense_Mutation_p.Q317H|SYT14_ENST00000399639.2_Missense_Mutation_p.Q317H|SYT14_ENST00000367015.1_Missense_Mutation_p.Q279H|SYT14_ENST00000534859.1_Missense_Mutation_p.Q317H|SYT14_ENST00000422431.1_Missense_Mutation_p.Q362H|SYT14_ENST00000537238.1_Missense_Mutation_p.Q279H			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	317	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		CCAGCATCCAGAGAGGACCAT	0.403																																						uc009xcv.2		NaN																	0				ovary(1)|skin(1)	2						c.(949-951)CAG>CAC		synaptotagmin XIV isoform 4							92.0	83.0	86.0					1																	210273593		2203	4300	6503	SO:0001583	missense	255928					integral to membrane		g.chr1:210273593G>C	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.951G>C	1.37:g.210273593G>C	ENSP00000418901:p.Gln317His					SYT14_uc001hhs.3_Missense_Mutation_p.Q362H|SYT14_uc001hht.3_Missense_Mutation_p.Q317H|SYT14_uc001hhu.3_Intron|SYT14_uc010psn.1_Missense_Mutation_p.Q362H|SYT14_uc010pso.1_Missense_Mutation_p.Q279H	p.Q317H	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	6	1023	+			317			Cytoplasmic (Potential).|C2 1.		B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	ENST00000472886.1	37	c.951G>C	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504468	0.64410	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T;T	0.07688	3.17;3.17;3.17;3.17;3.17;3.17;3.17	5.97	5.06	0.68205	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.123083	0.56097	D	0.000032	T	0.13114	0.0318	N	0.25286	0.73	0.48830	D	0.999716	D;P;D;D	0.76494	0.999;0.866;0.987;0.999	D;P;P;D	0.73708	0.981;0.507;0.775;0.951	T	0.24512	-1.0158	10	0.09843	T	0.71	-10.0318	11.5071	0.50472	0.1376:0.0:0.8624:0.0	.	345;317;317;362	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	H	362;317;317;279;317;317;279	ENSP00000389039:Q362H;ENSP00000442891:Q317H;ENSP00000445837:Q317H;ENSP00000437423:Q279H;ENSP00000355986:Q317H;ENSP00000418901:Q317H;ENSP00000355982:Q279H	ENSP00000355982:Q279H	Q	+	3	2	SYT14	208340216	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.587000	0.36622	1.534000	0.49203	0.650000	0.86243	CAG		0.403	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1		NM_153262		14	38	0	0	0	1	0	14	38		
INTS7	25896	broad.mit.edu	37	1	212180677	212180677	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:212180677G>C	ENST00000366994.3	-	6	775	c.671C>G	c.(670-672)tCc>tGc	p.S224C	INTS7_ENST00000440600.2_Missense_Mutation_p.S175C|INTS7_ENST00000366993.3_Missense_Mutation_p.S224C|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.S224C	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	224					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GGACGGATAGGATGTGACCAG	0.433																																						uc001hiw.1		NaN																	0					0						c.(670-672)TCC>TGC		integrator complex subunit 7							150.0	122.0	132.0					1																	212180677		2203	4300	6503	SO:0001583	missense	25896				snRNA processing	integrator complex	protein binding	g.chr1:212180677G>C	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.671C>G	1.37:g.212180677G>C	ENSP00000355961:p.Ser224Cys					INTS7_uc009xdb.1_Missense_Mutation_p.S224C|INTS7_uc001hix.1_Missense_Mutation_p.S100C|INTS7_uc001hiy.1_Missense_Mutation_p.S224C|INTS7_uc010pta.1_Missense_Mutation_p.S175C	p.S224C	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	6	776	-			224					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	c.671C>G	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373997	0.82573	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.69306	-0.39;-0.39;-0.39;1.49	6.04	6.04	0.98038	Armadillo-like helical (1);Armadillo-type fold (1);	0.387942	0.32719	N	0.005729	T	0.74839	0.3769	L	0.61218	1.895	0.80722	D	1	P;P;P;P	0.47409	0.895;0.514;0.514;0.514	P;P;B;B	0.49301	0.606;0.526;0.398;0.398	T	0.75900	-0.3154	10	0.72032	D	0.01	-4.2789	20.5792	0.99380	0.0:0.0:1.0:0.0	.	175;224;224;224	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	C	224;224;224;175	ENSP00000355961:S224C;ENSP00000355960:S224C;ENSP00000355959:S224C;ENSP00000388908:S175C	ENSP00000355959:S224C	S	-	2	0	INTS7	210247300	1.000000	0.71417	0.967000	0.41034	0.879000	0.50718	9.136000	0.94489	2.873000	0.98535	0.561000	0.74099	TCC		0.433	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1		NM_015434		14	45	0	0	0	1	0	14	45		
DTL	51514	broad.mit.edu	37	1	212274365	212274365	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:212274365G>A	ENST00000366991.4	+	14	2347	c.2033G>A	c.(2032-2034)cGa>cAa	p.R678Q	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.R636Q|RN7SKP98_ENST00000517070.1_RNA	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	678					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		CCATCTCCACGAAGTCCGTCA	0.488																																						uc009xdc.2		NaN																	0					0						c.(2032-2034)CGA>CAA		denticleless homolog							44.0	44.0	44.0					1																	212274365		2203	4300	6503	SO:0001583	missense	51514				DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding	g.chr1:212274365G>A	AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"""	30288	protein-coding gene	gene with protein product	"""RA regulated nuclear matrix associated protein"", ""DDB1 and CUL4 associated factor 2"""	610617	"""denticleless homolog (Drosophila)"""			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.2033G>A	1.37:g.212274365G>A	ENSP00000355958:p.Arg678Gln					DTL_uc010ptb.1_Missense_Mutation_p.R636Q|DTL_uc001hiz.3_Missense_Mutation_p.R407Q	p.R678Q	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)	14	2347	+			678					A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP	ENST00000366991.4	37	c.2033G>A	CCDS1502.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822696	0.32237	.	.	ENSG00000143476	ENST00000366991;ENST00000542077;ENST00000420235	T;T	0.70869	-0.45;-0.52	5.71	2.85	0.33270	.	0.644042	0.15763	N	0.245838	T	0.41328	0.1154	N	0.11201	0.11	0.09310	N	1	B;P;B	0.37525	0.325;0.598;0.218	B;B;B	0.21151	0.033;0.024;0.015	T	0.16247	-1.0409	10	0.27082	T	0.32	-6.8717	7.6962	0.28596	0.3204:0.0:0.6796:0.0	.	636;678;636	F5GZ90;Q9NZJ0;B4E0E6	.;DTL_HUMAN;.	Q	678;636;357	ENSP00000355958:R678Q;ENSP00000443870:R636Q	ENSP00000355958:R678Q	R	+	2	0	DTL	210340988	0.540000	0.26410	0.994000	0.49952	0.987000	0.75469	2.252000	0.43196	0.783000	0.33636	0.655000	0.94253	CGA		0.488	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1		NM_016448		13	53	0	0	0	1	0	13	53		
RPS6KC1	26750	broad.mit.edu	37	1	213414278	213414278	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:213414278G>A	ENST00000366960.3	+	11	1609	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.E475K|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.E190K|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.E275K	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	487					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CAGCAACCAGGAAGATGATGG	0.413																																						uc010ptr.1		NaN																	0				lung(4)|ovary(3)|breast(1)	8						c.(1459-1461)GAA>AAA		ribosomal protein S6 kinase, 52kDa, polypeptide							87.0	86.0	86.0					1																	213414278		2203	4300	6503	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213414278G>A	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1459G>A	1.37:g.213414278G>A	ENSP00000355927:p.Glu487Lys					RPS6KC1_uc001hkd.2_Missense_Mutation_p.E475K|RPS6KC1_uc010pts.1_Missense_Mutation_p.E275K|RPS6KC1_uc010ptt.1_Missense_Mutation_p.E275K|RPS6KC1_uc010ptu.1_Missense_Mutation_p.E306K|RPS6KC1_uc010ptv.1_Missense_Mutation_p.E22K|RPS6KC1_uc001hke.2_Missense_Mutation_p.E306K	p.E487K	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	1618	+			487					B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.1459G>A	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026215	0.35701	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.38887	1.51;1.52;1.53;1.11	5.59	5.59	0.84812	.	0.483095	0.22496	N	0.059291	T	0.39708	0.1088	L	0.51422	1.61	0.39873	D	0.973538	B;B;B	0.27971	0.196;0.054;0.054	B;B;B	0.26770	0.073;0.031;0.031	T	0.24190	-1.0167	10	0.37606	T	0.19	-19.3956	15.4269	0.75059	0.0:0.1784:0.8216:0.0	.	275;487;475	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	K	275;487;475;190	ENSP00000442306:E275K;ENSP00000355927:E487K;ENSP00000355926:E475K;ENSP00000439282:E190K	ENSP00000355926:E475K	E	+	1	0	RPS6KC1	211480901	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.454000	0.44979	2.631000	0.89168	0.460000	0.39030	GAA		0.413	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3		NM_012424		20	71	0	0	0	1	0	20	71		
GPATCH2	55105	broad.mit.edu	37	1	217784238	217784238	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:217784238G>A	ENST00000366935.3	-	4	1121	c.1011C>T	c.(1009-1011)agC>agT	p.S337S	GPATCH2_ENST00000366934.3_Silent_p.S337S	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	337					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		GACCTCTTCTGCTTGGGTGTG	0.413																																						uc001hlf.1		NaN																	0				ovary(1)	1						c.(1009-1011)AGC>AGT		G patch domain containing 2							105.0	96.0	99.0					1																	217784238		2203	4300	6503	SO:0001819	synonymous_variant	55105					intracellular	nucleic acid binding	g.chr1:217784238G>A	AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.1011C>T	1.37:g.217784238G>A						GPATCH2_uc001hlg.3_Silent_p.S337S	p.S337S	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)	4	1107	-			337					Q5VYK7|Q5VYK8|Q86YE7	Silent	SNP	ENST00000366935.3	37	c.1011C>T	CCDS1518.1																																																																																				0.413	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1		NM_018040		14	41	0	0	0	1	0	14	41		
SLC30A10	55532	broad.mit.edu	37	1	220101335	220101335	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:220101335G>A	ENST00000366926.3	-	1	609	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C	SLC30A10_ENST00000536446.1_Intron|SLC30A10_ENST00000536992.1_Missense_Mutation_p.R150C	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	150					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TGCAGGCGGCGACTGCGTCCC	0.746																																					Colon(76;360 1614 43677 51136)	uc001hlw.2		NaN																	0					0						c.(448-450)CGC>TGC		solute carrier family 30 (zinc transporter),							3.0	3.0	3.0					1																	220101335		1813	3710	5523	SO:0001583	missense	55532				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr1:220101335G>A	AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"""Solute carriers"""	25355	protein-coding gene	gene with protein product	"""zinc transporter 8"""	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.448C>T	1.37:g.220101335G>A	ENSP00000355893:p.Arg150Cys					SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlx.2_5'UTR	p.R150C	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN		GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)	1	659	-			150			Cytoplasmic (Potential).		Q49AL9|Q9NPW0	Missense_Mutation	SNP	ENST00000366926.3	37	c.448C>T	CCDS31026.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713593	0.48517	.	.	ENSG00000196660	ENST00000366926;ENST00000536992	T;T	0.78924	-0.13;-1.22	3.47	-0.0258	0.13933	.	1.222550	0.05756	N	0.604104	T	0.64260	0.2582	N	0.14661	0.345	0.09310	N	1	P	0.50710	0.938	P	0.45946	0.498	T	0.55250	-0.8170	9	.	.	.	0.0038	5.9893	0.19452	0.0:0.3282:0.3125:0.3593	.	150	Q6XR72	ZNT10_HUMAN	C	150	ENSP00000355893:R150C;ENSP00000440627:R150C	.	R	-	1	0	SLC30A10	218167958	0.000000	0.05858	0.000000	0.03702	0.209000	0.24338	0.105000	0.15333	-0.100000	0.12241	0.491000	0.48974	CGC		0.746	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357709.1		NM_018713		4	5	0	0	0	1	0	4	5		
MARK1	4139	broad.mit.edu	37	1	220752866	220752866	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:220752866C>T	ENST00000366917.4	+	2	488	c.222C>T	c.(220-222)gtC>gtT	p.V74V	MARK1_ENST00000366918.4_Silent_p.V74V|MARK1_ENST00000402574.1_5'UTR					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TTGCCAAAGTCAAATTGGCAA	0.413																																						uc001hmn.3		NaN																	0				ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10						c.(220-222)GTC>GTT		MAP/microtubule affinity-regulating kinase 1							89.0	84.0	86.0					1																	220752866		2203	4300	6503	SO:0001819	synonymous_variant	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220752866C>T	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.222C>T	1.37:g.220752866C>T						MARK1_uc001hml.2_Silent_p.V74V|MARK1_uc009xdw.2_Silent_p.V74V|MARK1_uc010pun.1_Silent_p.V74V|MARK1_uc001hmm.3_Silent_p.V74V	p.V74V	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	2	819	+			74			ATP (By similarity).|Protein kinase.			Silent	SNP	ENST00000366917.4	37	c.222C>T	CCDS31029.2																																																																																				0.413	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1				9	58	0	0	0	1	0	9	58		
DISP1	84976	broad.mit.edu	37	1	223163986	223163986	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:223163986G>A	ENST00000284476.6	+	4	723	c.559G>A	c.(559-561)Gac>Aac	p.D187N	DISP1_ENST00000495684.1_3'UTR	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	187					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CCTGATAGCCGACTGGCCGGT	0.498																																						uc001hnu.1		NaN																	0					0						c.(559-561)GAC>AAC		dispatched A							236.0	211.0	220.0					1																	223163986		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223163986G>A	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.559G>A	1.37:g.223163986G>A	ENSP00000284476:p.Asp187Asn						p.D187N	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	4	706	+			187					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.559G>A	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924667	0.73213	.	.	ENSG00000154309	ENST00000284476	D	0.92048	-2.96	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.90594	0.7051	M	0.72894	2.215	0.80722	D	1	P	0.38335	0.627	B	0.27380	0.079	D	0.90614	0.4554	10	0.51188	T	0.08	-50.4529	19.8354	0.96655	0.0:0.0:1.0:0.0	.	187	Q96F81	DISP1_HUMAN	N	187	ENSP00000284476:D187N	ENSP00000284476:D187N	D	+	1	0	DISP1	221230609	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	8.018000	0.88722	2.686000	0.91538	0.555000	0.69702	GAC		0.498	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1		NM_032890		40	110	0	0	0	1	0	40	110		
SUSD4	55061	broad.mit.edu	37	1	223536710	223536710	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:223536710G>A	ENST00000343846.3	-	1	691	c.58C>T	c.(58-60)Cag>Tag	p.Q20*	SUSD4_ENST00000484758.2_Nonsense_Mutation_p.Q20*|SUSD4_ENST00000366877.3_Nonsense_Mutation_p.Q20*|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000494793.2_Nonsense_Mutation_p.Q20*|SUSD4_ENST00000344029.6_Nonsense_Mutation_p.Q20*|SUSD4_ENST00000366878.4_Nonsense_Mutation_p.Q20*|SUSD4_ENST00000478605.1_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	20						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GGTtgctgctgctgctgctgc	0.572																																						uc001hnx.2		NaN																	0					0						c.(58-60)CAG>TAG		sushi domain containing 4 isoform a							32.0	32.0	32.0					1																	223536710		2200	4297	6497	SO:0001587	stop_gained	55061					integral to membrane		g.chr1:223536710G>A	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.58C>T	1.37:g.223536710G>A	ENSP00000344219:p.Gln20*					SUSD4_uc001hny.3_Nonsense_Mutation_p.Q20*|SUSD4_uc010puw.1_5'UTR|SUSD4_uc001hnz.2_Nonsense_Mutation_p.Q20*|SUSD4_uc010pux.1_Nonsense_Mutation_p.Q20*	p.Q20*	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	1	692	-			20					D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Nonsense_Mutation	SNP	ENST00000343846.3	37	c.58C>T	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	G	37	6.115978	0.97296	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000271787;ENST00000344029;ENST00000342943;ENST00000366877	.	.	.	4.43	3.49	0.39957	.	0.000000	0.35124	N	0.003426	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-1.7567	11.369	0.49690	0.0:0.1846:0.8154:0.0	.	.	.	.	X	20	.	ENSP00000271787:Q20X	Q	-	1	0	SUSD4	221603333	1.000000	0.71417	0.990000	0.47175	0.989000	0.77384	2.642000	0.46596	0.797000	0.33971	0.561000	0.74099	CAG		0.572	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2		NM_017982		4	17	0	0	0	1	0	4	17		
FBXO28	23219	broad.mit.edu	37	1	224345239	224345239	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:224345239G>C	ENST00000366862.5	+	5	941	c.898G>C	c.(898-900)Gac>Cac	p.D300H	FBXO28_ENST00000424254.2_3'UTR	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	300										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		TCAAGACCAGGACCAGAAACT	0.473																																						uc001hoh.2		NaN																	0				ovary(2)|kidney(2)|lung(1)	5						c.(898-900)GAC>CAC		F-box protein 28 isoform a							165.0	169.0	168.0					1																	224345239		2203	4300	6503	SO:0001583	missense	23219							g.chr1:224345239G>C	AK001628	CCDS1539.1, CCDS44320.1	1q42.12	2011-08-12			ENSG00000143756	ENSG00000143756		"""F-boxes /  ""other"""""	29046	protein-coding gene	gene with protein product	"""centromere protein 30"""	609100				9455484	Standard	NM_015176		Approved	FLJ10766, KIAA0483, Fbx28, CENP-30	uc001hoh.3	Q9NVF7	OTTHUMG00000037495	ENST00000366862.5:c.898G>C	1.37:g.224345239G>C	ENSP00000355827:p.Asp300His					FBXO28_uc009xef.2_3'UTR|FBXO28_uc010pvc.1_Missense_Mutation_p.D95H	p.D300H	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN		GBM - Glioblastoma multiforme(131;0.0363)	5	939	+	Breast(184;0.206)		300					E9PEM8|O75070	Missense_Mutation	SNP	ENST00000366862.5	37	c.898G>C	CCDS1539.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596157	0.66332	.	.	ENSG00000143756	ENST00000366862	.	.	.	6.17	5.26	0.73747	.	0.088631	0.85682	D	0.000000	T	0.39886	0.1095	N	0.14661	0.345	0.80722	D	1	P	0.45348	0.856	B	0.41988	0.372	T	0.42732	-0.9434	9	0.54805	T	0.06	-21.7988	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	300	Q9NVF7	FBX28_HUMAN	H	300	.	ENSP00000355827:D300H	D	+	1	0	FBXO28	222411862	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.204000	0.95041	1.621000	0.50320	0.655000	0.94253	GAC		0.473	FBXO28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091283.2		NM_015176		32	158	0	0	0	1	0	32	158		
FBXO28	23219	broad.mit.edu	37	1	224345339	224345339	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:224345339G>C	ENST00000366862.5	+	5	1041	c.998G>C	c.(997-999)gGa>gCa	p.G333A	FBXO28_ENST00000424254.2_3'UTR	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	333										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		AGTGCTGTAGGAAATTCCTCA	0.478																																						uc001hoh.2		NaN																	0				ovary(2)|kidney(2)|lung(1)	5						c.(997-999)GGA>GCA		F-box protein 28 isoform a							121.0	126.0	125.0					1																	224345339		2203	4300	6503	SO:0001583	missense	23219							g.chr1:224345339G>C	AK001628	CCDS1539.1, CCDS44320.1	1q42.12	2011-08-12			ENSG00000143756	ENSG00000143756		"""F-boxes /  ""other"""""	29046	protein-coding gene	gene with protein product	"""centromere protein 30"""	609100				9455484	Standard	NM_015176		Approved	FLJ10766, KIAA0483, Fbx28, CENP-30	uc001hoh.3	Q9NVF7	OTTHUMG00000037495	ENST00000366862.5:c.998G>C	1.37:g.224345339G>C	ENSP00000355827:p.Gly333Ala					FBXO28_uc009xef.2_3'UTR|FBXO28_uc010pvc.1_Missense_Mutation_p.G128A	p.G333A	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN		GBM - Glioblastoma multiforme(131;0.0363)	5	1039	+	Breast(184;0.206)		333					E9PEM8|O75070	Missense_Mutation	SNP	ENST00000366862.5	37	c.998G>C	CCDS1539.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482195	0.63962	.	.	ENSG00000143756	ENST00000366862	.	.	.	5.97	5.97	0.96955	.	0.148878	0.64402	D	0.000014	T	0.64103	0.2568	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.58387	-0.7645	9	0.22706	T	0.39	-20.8937	20.4387	0.99107	0.0:0.0:1.0:0.0	.	333	Q9NVF7	FBX28_HUMAN	A	333	.	ENSP00000355827:G333A	G	+	2	0	FBXO28	222411962	1.000000	0.71417	0.549000	0.28204	0.993000	0.82548	5.963000	0.70372	2.836000	0.97738	0.655000	0.94253	GGA		0.478	FBXO28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091283.2		NM_015176		28	113	0	0	0	1	0	28	113		
CDC42BPA	8476	broad.mit.edu	37	1	227204633	227204633	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:227204633C>G	ENST00000366769.3	-	32	5920	c.4629G>C	c.(4627-4629)caG>caC	p.Q1543H	CDC42BPA_ENST00000366765.3_Missense_Mutation_p.Q1556H|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.Q1462H|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.Q1523H|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.Q1543H|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.Q1515H|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.Q1578H	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCTACCTCCTCTGCTGCATCC	0.398																																						uc001hqr.2		NaN																	0				lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11						c.(4627-4629)CAG>CAC		CDC42-binding protein kinase alpha isoform B							202.0	197.0	199.0					1																	227204633		2203	4300	6503	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227204633C>G	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.4629G>C	1.37:g.227204633C>G	ENSP00000355731:p.Gln1543His					CDC42BPA_uc001hqq.2_Missense_Mutation_p.Q842H|CDC42BPA_uc001hqs.2_Missense_Mutation_p.Q1462H|CDC42BPA_uc009xes.2_Missense_Mutation_p.Q1515H|CDC42BPA_uc010pvs.1_Missense_Mutation_p.Q1523H|CDC42BPA_uc001hqp.2_Missense_Mutation_p.Q699H|CDC42BPA_uc001hqt.2_Missense_Mutation_p.Q421H	p.Q1543H	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN			32	5572	-		all_cancers(173;0.156)|Prostate(94;0.0792)	1556						Missense_Mutation	SNP	ENST00000366769.3	37	c.4629G>C	CCDS1558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	17.40|17.40	3.380140|3.380140	0.61845|0.61845	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000429440|ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	.|T;T;T;T;T;T;T	.|0.68765	.|-0.32;-0.32;-0.33;-0.29;-0.35;-0.33;-0.31	5.27|5.27	2.39|2.39	0.29439|0.29439	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77512|0.77512	0.4141|0.4141	M|M	0.72353|0.72353	2.195|2.195	0.47276|0.47276	D|D	0.999378|0.999378	.|D;D;D;D;D;D;D	.|0.76494	.|0.998;0.998;0.999;0.997;0.997;0.997;0.996	.|D;P;D;D;D;D;D	.|0.87578	.|0.996;0.904;0.94;0.998;0.967;0.967;0.995	T|T	0.75892|0.75892	-0.3157|-0.3157	5|10	.|0.87932	.|D	.|0	.|.	8.9725|8.9725	0.35915|0.35915	0.0:0.743:0.122:0.1351|0.0:0.743:0.122:0.1351	.|.	.|1523;1515;440;1462;1543;1578;745	.|F5H5N0;Q5VT25-4;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.|.;.;.;.;.;.;.	Q|H	746;872;441|1543;1462;1543;1578;1515;1523;1556	.|ENSP00000355731:Q1543H;ENSP00000355729:Q1462H;ENSP00000335341:Q1543H;ENSP00000355728:Q1578H;ENSP00000355726:Q1515H;ENSP00000443275:Q1523H;ENSP00000355727:Q1556H	.|ENSP00000335341:Q1543H	E|Q	-|-	1|3	0|2	CDC42BPA|CDC42BPA	225271256|225271256	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.859000|0.859000	0.49053|0.49053	2.507000|2.507000	0.45442|0.45442	0.243000|0.243000	0.21327|0.21327	-0.355000|-0.355000	0.07637|0.07637	GAG|CAG		0.398	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1		NM_014826		15	48	0	0	0	1	0	15	48		
OBSCN	84033	broad.mit.edu	37	1	228475825	228475825	+	Missense_Mutation	SNP	C	C	T	rs560187892	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:228475825C>T	ENST00000422127.1	+	37	9919	c.9875C>T	c.(9874-9876)aCg>aTg	p.T3292M	OBSCN_ENST00000366709.4_Missense_Mutation_p.T411M|OBSCN_ENST00000570156.2_Missense_Mutation_p.T3721M|OBSCN_ENST00000359599.6_Missense_Mutation_p.T2139M|OBSCN_ENST00000366707.4_Missense_Mutation_p.T411M|OBSCN_ENST00000284548.11_Missense_Mutation_p.T3292M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3292	Ig-like 33.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCACGGCCACGCTGCGGTGT	0.612													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20134	0.0		0.0	False		,,,				2504	0.0					uc009xez.1		NaN																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(9874-9876)ACG>ATG		obscurin, cytoskeletal calmodulin and							74.0	80.0	78.0					1																	228475825		2041	4175	6216	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228475825C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.9875C>T	1.37:g.228475825C>T	ENSP00000409493:p.Thr3292Met					OBSCN_uc001hsn.2_Missense_Mutation_p.T3292M|OBSCN_uc001hsq.1_Missense_Mutation_p.T548M	p.T3292M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			37	9919	+		Prostate(94;0.0405)	3292			Ig-like 33.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.9875C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760549	0.49468	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65	4.99	3.0	0.34707	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.352720	0.28262	N	0.015987	T	0.77315	0.4112	M	0.70842	2.15	0.09310	N	1	D;D	0.63046	0.979;0.992	P;P	0.58210	0.835;0.622	T	0.67971	-0.5532	10	0.56958	D	0.05	.	9.4222	0.38559	0.0:0.7755:0.1429:0.0816	.	3292;3292	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	M	3292;3292;411;411;2139	ENSP00000284548:T3292M;ENSP00000409493:T3292M;ENSP00000355668:T411M;ENSP00000355670:T411M;ENSP00000352613:T2139M	ENSP00000284548:T3292M	T	+	2	0	OBSCN	226542448	0.000000	0.05858	0.030000	0.17652	0.503000	0.33858	0.310000	0.19356	0.610000	0.30035	0.561000	0.74099	ACG		0.612	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_052843		51	112	0	0	0	1	0	51	112		
ACTA1	58	broad.mit.edu	37	1	229567842	229567842	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:229567842G>T	ENST00000366684.3	-	5	809	c.707C>A	c.(706-708)tCc>tAc	p.S236Y	ACTA1_ENST00000366683.2_Missense_Mutation_p.S148Y	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	236					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				TTCCAGGGAGGAGGAGGAGGC	0.642																																						uc001htm.2		NaN																	0					0						c.(706-708)TCC>TAC		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						38.0	33.0	34.0					1																	229567842		2203	4299	6502	SO:0001583	missense	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229567842G>T	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.707C>A	1.37:g.229567842G>T	ENSP00000355645:p.Ser236Tyr						p.S236Y	NM_001100	NP_001091	P68133	ACTS_HUMAN			5	812	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	236					P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	37	c.707C>A	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698287	0.30142	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682	D;D	0.97906	-4.6;-4.6	4.28	4.28	0.50868	.	0.152498	0.44285	D	0.000468	D	0.99130	0.9700	H	0.98111	4.15	0.80722	D	1	P	0.36647	0.563	P	0.53266	0.722	D	0.99690	1.1001	10	0.87932	D	0	.	16.8952	0.86098	0.0:0.0:1.0:0.0	.	236	P68133	ACTS_HUMAN	Y	236;146;148;201	ENSP00000355645:S236Y;ENSP00000355644:S148Y	ENSP00000312351:S146Y	S	-	2	0	ACTA1	227634465	1.000000	0.71417	1.000000	0.80357	0.143000	0.21401	9.477000	0.97925	2.201000	0.70794	0.563000	0.77884	TCC		0.642	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1		NM_001100		14	42	1	0	1.3612e-06	1	1.40263e-06	14	42		
URB2	9816	broad.mit.edu	37	1	229779297	229779297	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:229779297C>T	ENST00000258243.2	+	5	3788	c.3652C>T	c.(3652-3654)Cag>Tag	p.Q1218*		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1218						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AATTCCTGTTCAGGTCACTCA	0.448																																						uc001hts.1		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(3652-3654)CAG>TAG		URB2 ribosome biogenesis 2 homolog							115.0	113.0	114.0					1																	229779297		2203	4300	6503	SO:0001587	stop_gained	9816					nucleolus		g.chr1:229779297C>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.3652C>T	1.37:g.229779297C>T	ENSP00000258243:p.Gln1218*					URB2_uc009xfd.1_Nonsense_Mutation_p.Q1218*	p.Q1218*	NM_014777	NP_055592	Q14146	URB2_HUMAN			5	3788	+			1218					Q5VYC9	Nonsense_Mutation	SNP	ENST00000258243.2	37	c.3652C>T	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	C	39	7.534097	0.98342	.	.	ENSG00000135763	ENST00000258243	.	.	.	5.37	5.37	0.77165	.	0.617438	0.18200	N	0.148523	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.1085	18.0209	0.89254	0.0:1.0:0.0:0.0	.	.	.	.	X	1218	.	.	Q	+	1	0	URB2	227845920	0.205000	0.23458	0.012000	0.15200	0.024000	0.10985	0.722000	0.25925	2.670000	0.90874	0.655000	0.94253	CAG		0.448	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1		NM_014777		19	72	0	0	0	1	0	19	72		
GALNT2	2590	broad.mit.edu	37	1	230314024	230314024	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:230314024G>C	ENST00000366672.4	+	2	259	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	GALNT2_ENST00000543760.1_Missense_Mutation_p.E25Q|GALNT2_ENST00000541865.1_Intron	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	63					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CAATGGAGAAGAGAAAGCACA	0.493																																						uc010pwa.1		NaN																	0				ovary(2)	2						c.(187-189)GAG>CAG		polypeptide N-acetylgalactosaminyltransferase 2							95.0	87.0	89.0					1																	230314024		2203	4300	6503	SO:0001583	missense	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230314024G>C	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.187G>C	1.37:g.230314024G>C	ENSP00000355632:p.Glu63Gln					GALNT2_uc010pvy.1_Missense_Mutation_p.E25Q|GALNT2_uc010pvz.1_Intron	p.E63Q	NM_004481	NP_004472	Q10471	GALT2_HUMAN			2	259	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	63			Lumenal (Potential).		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	37	c.187G>C	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225604	0.58668	.	.	ENSG00000143641	ENST00000543760;ENST00000366672	T;T	0.55588	0.51;0.54	5.71	5.71	0.89125	.	.	.	.	.	T	0.38295	0.1035	N	0.19112	0.55	0.80722	D	1	B;B	0.16603	0.009;0.018	B;B	0.20384	0.013;0.029	T	0.18085	-1.0348	9	0.16420	T	0.52	.	15.3495	0.74370	0.0:0.0:1.0:0.0	.	63;25	Q10471;G3V1S6	GALT2_HUMAN;.	Q	25;63	ENSP00000445017:E25Q;ENSP00000355632:E63Q	ENSP00000355632:E63Q	E	+	1	0	GALNT2	228380647	1.000000	0.71417	0.821000	0.32701	0.996000	0.88848	5.606000	0.67641	2.694000	0.91930	0.591000	0.81541	GAG		0.493	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1		NM_004481		9	53	0	0	0	1	0	9	53		
PCNXL2	80003	broad.mit.edu	37	1	233344284	233344284	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:233344284G>A	ENST00000258229.9	-	13	3077	c.2843C>T	c.(2842-2844)tCa>tTa	p.S948L	PCNXL2_ENST00000430153.1_Missense_Mutation_p.S247L|PCNXL2_ENST00000488780.2_Missense_Mutation_p.S81L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	948						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTCCCTAGCTGATTGTAGAAA	0.468																																						uc001hvl.2		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(2842-2844)TCA>TTA		pecanex-like 2							83.0	77.0	78.0					1																	233344284		1862	4096	5958	SO:0001583	missense	80003					integral to membrane		g.chr1:233344284G>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.2843C>T	1.37:g.233344284G>A	ENSP00000258229:p.Ser948Leu					PCNXL2_uc009xfu.2_RNA|PCNXL2_uc001hvp.1_RNA|PCNXL2_uc009xfv.1_RNA|PCNXL2_uc001hvq.1_Missense_Mutation_p.S247L	p.S948L	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			13	3078	-		all_cancers(173;0.0347)|Prostate(94;0.137)	948					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.2843C>T	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	G	7.248	0.602719	0.13939	.	.	ENSG00000135749	ENST00000258229;ENST00000488780;ENST00000518351;ENST00000430153	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.8	2.91	0.33838	.	.	.	.	.	T	0.33818	0.0876	N	0.15975	0.35	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.20638	-1.0269	9	0.12430	T	0.62	.	6.2665	0.20930	0.2085:0.1358:0.6556:0.0	.	247;948	A6NKB5-2;A6NKB5	.;PCX2_HUMAN	L	948;81;117;247	ENSP00000258229:S948L;ENSP00000430820:S81L;ENSP00000429231:S117L;ENSP00000394703:S247L	ENSP00000258229:S948L	S	-	2	0	PCNXL2	231410907	0.004000	0.15560	0.065000	0.19835	0.835000	0.47333	0.805000	0.27112	0.785000	0.33685	0.655000	0.94253	TCA		0.468	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3		NM_014801		15	41	0	0	0	1	0	15	41		
TOMM20	9804	broad.mit.edu	37	1	235277211	235277211	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:235277211C>T	ENST00000366607.4	-	4	485	c.265G>A	c.(265-267)Ggc>Agc	p.G89S	TOMM20_ENST00000467767.1_5'UTR	NM_014765.2	NP_055580.1	Q15388	TOM20_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)	89					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)|unfolded protein binding (GO:0051082)			lung(2)|prostate(1)	3	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)			TGGTCTACGCCCTTCTCATAT	0.418																																						uc001hwl.2		NaN																	0					0						c.(265-267)GGC>AGC		translocase of outer mitochondrial membrane 20							100.0	87.0	92.0					1																	235277211		2203	4300	6503	SO:0001583	missense	9804				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding	g.chr1:235277211C>T		CCDS1603.1	1q42	2008-07-18			ENSG00000173726	ENSG00000173726			20947	protein-coding gene	gene with protein product	"""translocase of outer mitochondrial membrane 20 homolog type II"""	601848				7498524, 7589431, 15733919	Standard	NM_014765		Approved	KIAA0016, TOM20, MOM19, MAS20	uc001hwl.3	Q15388	OTTHUMG00000039619	ENST00000366607.4:c.265G>A	1.37:g.235277211C>T	ENSP00000355566:p.Gly89Ser					TOMM20_uc009xfx.1_Intron	p.G89S	NM_014765	NP_055580	Q15388	TOM20_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)		4	491	-	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	89			Cytoplasmic (Potential).		A8K195|Q498B3|Q6IBT4	Missense_Mutation	SNP	ENST00000366607.4	37	c.265G>A	CCDS1603.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.811358	0.90707	.	.	ENSG00000173726	ENST00000366607	T	0.35236	1.32	5.64	5.64	0.86602	Mitochondrial outer membrane translocase complex, subunit Tom20 domain (2);	0.000000	0.85682	D	0.000000	T	0.64843	0.2635	M	0.91406	3.205	0.80722	D	1	D	0.58268	0.982	P	0.56434	0.798	T	0.70249	-0.4924	10	0.44086	T	0.13	-5.9649	19.6939	0.96016	0.0:1.0:0.0:0.0	.	89	Q15388	TOM20_HUMAN	S	89	ENSP00000355566:G89S	ENSP00000355566:G89S	G	-	1	0	TOMM20	233343834	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	7.779000	0.85648	2.660000	0.90430	0.455000	0.32223	GGC		0.418	TOMM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095551.1		NM_014765		24	55	0	0	0	1	0	24	55		
RYR2	6262	broad.mit.edu	37	1	237619914	237619914	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:237619914C>T	ENST00000366574.2	+	16	1808	c.1491C>T	c.(1489-1491)ctC>ctT	p.L497L	RYR2_ENST00000542537.1_Silent_p.L481L|RYR2_ENST00000360064.6_Silent_p.L495L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	497					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGATCAACCTCGTGCTTGAGT	0.413																																						uc001hyl.1		NaN																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(1489-1491)CTC>CTT		cardiac muscle ryanodine receptor							128.0	121.0	123.0					1																	237619914		1897	4126	6023	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237619914C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1491C>T	1.37:g.237619914C>T							p.L497L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		16	1611	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	497			Cytoplasmic (By similarity).		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.1491C>T	CCDS55691.1																																																																																				0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035		12	57	0	0	0	1	0	12	57		
RYR2	6262	broad.mit.edu	37	1	237872347	237872347	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:237872347G>A	ENST00000366574.2	+	69	10408	c.10091G>A	c.(10090-10092)aGa>aAa	p.R3364K	RYR2_ENST00000542537.1_Missense_Mutation_p.R3348K|RYR2_ENST00000360064.6_Missense_Mutation_p.R3362K|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3364					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACACTGGCCAGAGATCTCTAT	0.463																																						uc001hyl.1		NaN																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(10090-10092)AGA>AAA		cardiac muscle ryanodine receptor							93.0	90.0	91.0					1																	237872347		1926	4133	6059	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237872347G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10091G>A	1.37:g.237872347G>A	ENSP00000355533:p.Arg3364Lys					RYR2_uc010pxz.1_Missense_Mutation_p.R319K	p.R3364K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		69	10211	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3364					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.10091G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	30	5.052307	0.93793	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97642	-4.47;-4.45;-4.47	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000008	D	0.98362	0.9456	M	0.85542	2.76	0.80722	D	1	D	0.69078	0.997	P	0.60173	0.87	D	0.99104	1.0844	10	0.72032	D	0.01	-14.7642	19.4173	0.94706	0.0:0.0:1.0:0.0	.	3364	Q92736	RYR2_HUMAN	K	3364;3362;3348;319	ENSP00000355533:R3364K;ENSP00000353174:R3362K;ENSP00000443798:R3348K	ENSP00000353174:R3362K	R	+	2	0	RYR2	235938970	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.813000	0.99286	2.589000	0.87451	0.655000	0.94253	AGA		0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035		10	22	0	0	0	1	0	10	22		
SDCCAG8	10806	broad.mit.edu	37	1	243433447	243433447	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:243433447G>A	ENST00000366541.3	+	2	226	c.108G>A	c.(106-108)ctG>ctA	p.L36L	SDCCAG8_ENST00000355875.4_Silent_p.L36L|SDCCAG8_ENST00000391846.1_Silent_p.L36L|SDCCAG8_ENST00000343783.6_Intron	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	36					establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CATGTGCCCTGAAAGAAGGCG	0.493																																						uc001hzw.2		NaN																	0					0						c.(106-108)CTG>CTA		serologically defined colon cancer antigen 8							113.0	87.0	95.0					1																	243433447		2203	4300	6503	SO:0001819	synonymous_variant	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243433447G>A	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.108G>A	1.37:g.243433447G>A						SDCCAG8_uc010pyk.1_Intron|SDCCAG8_uc010pyl.1_Intron	p.L36L	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	2	264	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	36					O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Silent	SNP	ENST00000366541.3	37	c.108G>A	CCDS31075.1																																																																																				0.493	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1		NM_006642		8	35	0	0	0	1	0	8	35		
AKT3	10000	broad.mit.edu	37	1	243727132	243727132	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:243727132C>G	ENST00000366539.1	-	10	1038	c.838G>C	c.(838-840)Gac>Cac	p.D280H	AKT3_ENST00000263826.5_Missense_Mutation_p.D280H|AKT3_ENST00000366540.1_Missense_Mutation_p.D280H|AKT3_ENST00000336199.5_Missense_Mutation_p.D280H			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	280	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			CCATCTTTGTCCAGCATTAGA	0.348																																						uc001iab.1		NaN																	0				stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4						c.(838-840)GAC>CAC		AKT3 kinase isoform 1							132.0	124.0	127.0					1																	243727132		2203	4300	6503	SO:0001583	missense	10000				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:243727132C>G	AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.838G>C	1.37:g.243727132C>G	ENSP00000355497:p.Asp280His					AKT3_uc001hzz.1_Missense_Mutation_p.D280H	p.D280H	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)		9	919	-	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	280			Protein kinase.		Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	ENST00000366539.1	37	c.838G>C	CCDS31077.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803975	0.90623	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	6.08	6.08	0.98989	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62073	0.2398	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.63107	-0.6711	10	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	280;280	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	H	280	ENSP00000336943:D280H;ENSP00000355498:D280H;ENSP00000355497:D280H;ENSP00000263826:D280H	ENSP00000263826:D280H	D	-	1	0	AKT3	241793755	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	GAC		0.348	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1		NM_181690		16	51	0	0	0	1	0	16	51		
KIF26B	55083	broad.mit.edu	37	1	245765916	245765916	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:245765916G>C	ENST00000407071.2	+	6	1828	c.1388G>C	c.(1387-1389)cGa>cCa	p.R463P	KIF26B_ENST00000366518.4_Missense_Mutation_p.R82P	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	463	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ACCTTGGCTCGAGATACTTCA	0.488																																						uc001ibf.1		NaN																	0				ovary(3)	3						c.(1387-1389)CGA>CCA		kinesin family member 26B							57.0	58.0	58.0					1																	245765916		1958	4150	6108	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245765916G>C	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1388G>C	1.37:g.245765916G>C	ENSP00000385545:p.Arg463Pro					KIF26B_uc010pyq.1_Missense_Mutation_p.R463P|KIF26B_uc001ibg.1_Missense_Mutation_p.R81P	p.R463P	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		6	1828	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		463			Kinesin-motor.		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.1388G>C	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034685	0.35893	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.18016	2.24;2.24	5.23	5.23	0.72850	Kinesin, motor domain (3);	.	.	.	.	T	0.17365	0.0417	N	0.22421	0.69	0.25888	N	0.983512	B;B	0.27013	0.14;0.166	B;B	0.30401	0.037;0.115	T	0.22173	-1.0224	9	0.59425	D	0.04	.	19.1618	0.93535	0.0:0.0:1.0:0.0	.	82;463	B7WPD9;Q2KJY2	.;KI26B_HUMAN	P	463;82;79	ENSP00000385545:R463P;ENSP00000355475:R82P	ENSP00000355475:R82P	R	+	2	0	KIF26B	243832539	0.995000	0.38212	0.969000	0.41365	0.794000	0.44872	4.172000	0.58243	2.602000	0.87976	0.655000	0.94253	CGA		0.488	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1		XM_371354		10	25	0	0	0	1	0	10	25		
OR2T8	343172	broad.mit.edu	37	1	248085113	248085113	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:248085113C>G	ENST00000319968.4	+	1	794	c.794C>G	c.(793-795)tCc>tGc	p.S265C		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S265Y(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCCCACAGGTCCACTAACCAC	0.493																																						uc010pzc.1		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(793-795)TCC>TGC		olfactory receptor, family 2, subfamily T,							88.0	79.0	82.0					1																	248085113		2203	4296	6499	SO:0001583	missense	343172				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248085113C>G		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.794C>G	1.37:g.248085113C>G	ENSP00000326225:p.Ser265Cys						p.S265C	NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	794	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	265			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000319968.4	37	c.794C>G	CCDS31100.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.397572	0.42512	.	.	ENSG00000177462	ENST00000319968	T	0.00279	8.33	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.28815	U	0.014041	T	0.00845	0.0028	H	0.94808	3.585	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.18209	-1.0344	10	0.87932	D	0	.	8.5881	0.33670	0.0:0.8894:0.0:0.1106	.	265	A6NH00	OR2T8_HUMAN	C	265	ENSP00000326225:S265C	ENSP00000326225:S265C	S	+	2	0	OR2T8	246151736	0.001000	0.12720	0.005000	0.12908	0.007000	0.05969	0.557000	0.23454	1.709000	0.51313	0.404000	0.27445	TCC		0.493	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1		NM_001005522		22	64	0	0	0	1	0	22	64		
SH3BP5L	80851	broad.mit.edu	37	1	249106497	249106497	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:249106497G>A	ENST00000366472.5	-	7	2013	c.784C>T	c.(784-786)Cgt>Tgt	p.R262C	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Missense_Mutation_p.R230C	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	262										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TCCAGGTTACGAAGGGCCACG	0.682																																						uc001iew.1		NaN																	0					0						c.(784-786)CGT>TGT		SH3-binding domain protein 5-like							60.0	60.0	60.0					1																	249106497		2203	4300	6503	SO:0001583	missense	80851							g.chr1:249106497G>A	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.784C>T	1.37:g.249106497G>A	ENSP00000355428:p.Arg262Cys					SH3BP5L_uc010pzp.1_Missense_Mutation_p.R155C|SH3BP5L_uc010pzq.1_Missense_Mutation_p.R230C|SH3BP5L_uc001iev.1_Missense_Mutation_p.R143C	p.R262C	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		7	1336	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	262			Potential.		B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Missense_Mutation	SNP	ENST00000366472.5	37	c.784C>T	CCDS31126.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.886874	0.72410	.	.	ENSG00000175137	ENST00000366472;ENST00000411742	D	0.81739	-1.53	4.42	2.36	0.29203	.	0.000000	0.85682	D	0.000000	D	0.87920	0.6299	M	0.79123	2.44	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;0.998;0.96;0.998	D	0.88591	0.3143	10	0.87932	D	0	-27.6462	11.1851	0.48650	0.0:0.0:0.6767:0.3233	.	230;155;262;120	B4DQ94;B4DSF1;Q7L8J4;Q96MW4	.;.;3BP5L_HUMAN;.	C	262;230	ENSP00000412203:R230C	ENSP00000355428:R262C	R	-	1	0	SH3BP5L	247073120	0.933000	0.31639	1.000000	0.80357	0.940000	0.58332	1.342000	0.33919	1.193000	0.43086	0.467000	0.42956	CGT		0.682	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1		NM_030645		15	55	0	0	0	1	0	15	55		
LARP4B	23185	broad.mit.edu	37	10	860896	860896	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:860896G>A	ENST00000316157.3	-	15	1850	c.1810C>T	c.(1810-1812)Cat>Tat	p.H604Y	LARP4B_ENST00000469487.1_5'UTR	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	604					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)	p.H604Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TCGGGTAAATGAGCTGGGGAG	0.532																																						uc001ifs.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1810-1812)CAT>TAT		La ribonucleoprotein domain family, member 4B							76.0	75.0	75.0					10																	860896		2203	4300	6503	SO:0001583	missense	23185						nucleotide binding|RNA binding	g.chr10:860896G>A	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1810C>T	10.37:g.860896G>A	ENSP00000326128:p.His604Tyr						p.H604Y	NM_015155	NP_055970	Q92615	LAR4B_HUMAN			15	1851	-			604					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	c.1810C>T	CCDS31131.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.773|7.773	0.707809|0.707809	0.15239|0.15239	.|.	.|.	ENSG00000107929|ENSG00000107929	ENST00000316157|ENST00000448368	T|.	0.29917|.	1.55|.	5.87|5.87	3.06|3.06	0.35304|0.35304	.|.	0.745524|.	0.14684|.	N|.	0.304545|.	T|T	0.22936|0.22936	0.0554|0.0554	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B|.	0.30439|.	0.279|.	B|.	0.28232|.	0.087|.	T|T	0.22521|0.22521	-1.0214|-1.0214	10|5	0.48119|.	T|.	0.1|.	-10.0713|-10.0713	9.8015|9.8015	0.40766|0.40766	0.2153:0.0:0.7847:0.0|0.2153:0.0:0.7847:0.0	.|.	604|.	Q92615|.	LAR4B_HUMAN|.	Y|L	604|169	ENSP00000326128:H604Y|.	ENSP00000326128:H604Y|.	H|S	-|-	1|2	0|0	LARP4B|LARP4B	850896|850896	0.874000|0.874000	0.30092|0.30092	0.002000|0.002000	0.10522|0.10522	0.056000|0.056000	0.15407|0.15407	1.470000|1.470000	0.35354|0.35354	0.406000|0.406000	0.25560|0.25560	-0.351000|-0.351000	0.07748|0.07748	CAT|TCA		0.532	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2		NM_015155		20	66	0	0	0	1	0	20	66		
PITRM1	10531	broad.mit.edu	37	10	3206032	3206032	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:3206032G>A	ENST00000224949.4	-	7	710	c.676C>T	c.(676-678)Ctt>Ttt	p.L226F	PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.L226F|PITRM1_ENST00000451104.2_Missense_Mutation_p.L194F			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	226					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TGGTCAGGAAGAAGTCTGTTC	0.438																																						uc010qah.1		NaN																	0				pancreas(1)	1						c.(580-582)CTT>TTT		SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA;							126.0	123.0	124.0					10																	3206032		1935	4132	6067	SO:0001583	missense	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3206032G>A	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.676C>T	10.37:g.3206032G>A	ENSP00000224949:p.Leu226Phe					PITRM1_uc001igr.1_Missense_Mutation_p.L226F|PITRM1_uc001igt.1_Missense_Mutation_p.L226F|PITRM1_uc001igu.1_Missense_Mutation_p.L218F|PITRM1_uc010qai.1_Missense_Mutation_p.L197F|PITRM1_uc001igw.1_Missense_Mutation_p.L226F|uc001igx.1_5'Flank	p.L194F			E7ES23	E7ES23_HUMAN			6	612	-			194					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	c.580C>T	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	g	13.02	2.111600	0.37242	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000451104	T;T;T	0.29655	1.56;1.56;1.56	5.7	5.7	0.88788	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.229475	0.45606	D	0.000355	T	0.34308	0.0893	N	0.21240	0.645	0.45129	D	0.998142	B;B;P;P;P;B	0.39424	0.005;0.09;0.673;0.544;0.544;0.301	B;B;P;B;B;B	0.48952	0.016;0.145;0.596;0.391;0.391;0.285	T	0.02208	-1.1195	10	0.20046	T	0.44	.	19.8478	0.96722	0.0:0.0:1.0:0.0	.	219;194;226;226;226;219	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07	.;.;.;.;PREP_HUMAN;.	F	226;219;226;194	ENSP00000224949:L226F;ENSP00000370377:L226F;ENSP00000401201:L194F	ENSP00000224949:L226F	L	-	1	0	PITRM1	3196032	1.000000	0.71417	0.979000	0.43373	0.094000	0.18550	4.090000	0.57693	2.698000	0.92095	0.655000	0.94253	CTT		0.438	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2				25	70	0	0	0	1	0	25	70		
NET1	10276	broad.mit.edu	37	10	5498204	5498204	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:5498204C>G	ENST00000355029.4	+	11	1494	c.1352C>G	c.(1351-1353)tCc>tGc	p.S451C	NET1_ENST00000542715.1_Missense_Mutation_p.S270C|NET1_ENST00000484741.1_3'UTR|NET1_ENST00000380359.3_Missense_Mutation_p.S397C	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	451	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						ATGGGAGGCTCCTTTCGAGGA	0.458																																						uc001iia.2		NaN																	0				breast(1)	1						c.(1351-1353)TCC>TGC		neuroepithelial cell transforming gene 1 isoform							49.0	48.0	48.0					10																	5498204		2203	4300	6503	SO:0001583	missense	10276				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	g.chr10:5498204C>G	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.1352C>G	10.37:g.5498204C>G	ENSP00000347134:p.Ser451Cys					NET1_uc010qar.1_Missense_Mutation_p.S270C|NET1_uc001iib.2_Missense_Mutation_p.S397C|NET1_uc010qas.1_Missense_Mutation_p.S270C	p.S451C	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN			11	1490	+			451			PH.		Q12773|Q96D82|Q99903|Q9UEN6	Missense_Mutation	SNP	ENST00000355029.4	37	c.1352C>G	CCDS41483.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591100	0.66219	.	.	ENSG00000173848	ENST00000355029;ENST00000542715;ENST00000380359	T;T;T	0.76448	-1.02;-1.02;-1.02	5.64	5.64	0.86602	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.41823	D	0.000815	D	0.88844	0.6547	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.89694	0.3900	10	0.72032	D	0.01	-9.2911	18.2717	0.90070	0.0:1.0:0.0:0.0	.	397;451	Q5SQI7;Q7Z628	.;ARHG8_HUMAN	C	451;270;397	ENSP00000347134:S451C;ENSP00000446452:S270C;ENSP00000369717:S397C	ENSP00000347134:S451C	S	+	2	0	NET1	5488204	1.000000	0.71417	0.999000	0.59377	0.218000	0.24690	7.750000	0.85110	2.652000	0.90054	0.563000	0.77884	TCC		0.458	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3		NM_005863		13	47	0	0	0	1	0	13	47		
FAM208B	54906	broad.mit.edu	37	10	5772507	5772507	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:5772507C>G	ENST00000328090.5	+	11	1170	c.545C>G	c.(544-546)tCt>tGt	p.S182C	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	182																	CCTATTTTATCTACCCTTAAT	0.333																																						uc001iij.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(544-546)TCT>TGT		hypothetical protein LOC54906							95.0	88.0	90.0					10																	5772507		1830	4092	5922	SO:0001583	missense	54906							g.chr10:5772507C>G	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.545C>G	10.37:g.5772507C>G	ENSP00000328426:p.Ser182Cys					C10orf18_uc001iik.2_5'Flank	p.S182C	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN			11	1170	+			182					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.545C>G	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	9.136	1.012560	0.19277	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.04551	3.6	5.95	5.05	0.67936	.	0.192396	0.37483	N	0.002078	T	0.03739	0.0106	N	0.08118	0	0.22500	N	0.999047	B	0.02656	0.0	B	0.01281	0.0	T	0.39482	-0.9612	10	0.87932	D	0	.	15.4146	0.74956	0.0:0.8614:0.1386:0.0	.	182	Q5VWN6	F208B_HUMAN	C	182	ENSP00000328426:S182C	ENSP00000328426:S182C	S	+	2	0	C10orf18	5812513	1.000000	0.71417	0.981000	0.43875	0.000000	0.00434	3.208000	0.51114	1.543000	0.49345	-0.217000	0.12591	TCT		0.333	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2		NM_017782		15	43	0	0	0	1	0	15	43		
UPF2	26019	broad.mit.edu	37	10	12043687	12043687	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:12043687G>C	ENST00000356352.2	-	5	2115	c.1642C>G	c.(1642-1644)Ctt>Gtt	p.L548V	UPF2_ENST00000397053.2_Missense_Mutation_p.L548V|UPF2_ENST00000357604.5_Missense_Mutation_p.L548V			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	548					gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.L548I(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TGTTCATCAAGAAGTTTCTTT	0.333																																						uc001ila.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	central_nervous_system(2)|ovary(1)	3						c.(1642-1644)CTT>GTT		UPF2 regulator of nonsense transcripts homolog							114.0	108.0	110.0					10																	12043687		2202	4300	6502	SO:0001583	missense	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:12043687G>C	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.1642C>G	10.37:g.12043687G>C	ENSP00000348708:p.Leu548Val					UPF2_uc001ilb.2_Missense_Mutation_p.L548V|UPF2_uc001ilc.2_Missense_Mutation_p.L548V|UPF2_uc009xiz.1_Missense_Mutation_p.L548V	p.L548V	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN			5	2116	-		Renal(717;0.228)	548			Potential.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	c.1642C>G	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923354	0.33908	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	T;T;T	0.45276	0.9;0.9;0.9	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.52837	0.1759	L	0.44542	1.39	0.58432	D	0.999999	D;B	0.56035	0.974;0.279	D;B	0.67725	0.953;0.117	T	0.38045	-0.9679	10	0.29301	T	0.29	.	12.7855	0.57502	0.0759:0.0:0.9241:0.0	.	518;548	Q9HAU5-2;Q9HAU5	.;RENT2_HUMAN	V	548;548;518;548;518	ENSP00000348708:L548V;ENSP00000350221:L548V;ENSP00000380244:L548V	ENSP00000313617:L518V	L	-	1	0	UPF2	12083693	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.861000	0.69553	2.775000	0.95449	0.655000	0.94253	CTT		0.333	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1				3	26	0	0	0	1	0	3	26		
BEND7	222389	broad.mit.edu	37	10	13494604	13494604	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:13494604C>G	ENST00000396900.2	-	7	1117	c.1118G>C	c.(1117-1119)aGa>aCa	p.R373T	BEND7_ENST00000378605.3_Missense_Mutation_p.R334T|BEND7_ENST00000396898.2_Missense_Mutation_p.R386T|BEND7_ENST00000341083.3_Missense_Mutation_p.R321T|BEND7_ENST00000486542.1_5'UTR			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	373	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.					extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TACCCAATCTCTTGGGCCAGG	0.363																																						uc001imm.2		NaN																	0				ovary(1)|breast(1)	2						c.(961-963)AGA>ACA		BEN domain containing 7 isoform 1							137.0	138.0	137.0					10																	13494604		2203	4300	6503	SO:0001583	missense	222389						protein binding	g.chr10:13494604C>G	BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.1118G>C	10.37:g.13494604C>G	ENSP00000380108:p.Arg373Thr					BEND7_uc001iml.2_RNA|BEND7_uc001imn.2_Missense_Mutation_p.R82T|BEND7_uc001imo.3_Missense_Mutation_p.R334T	p.R321T	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN			7	1259	-			373			BEN.		Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Missense_Mutation	SNP	ENST00000396900.2	37	c.962G>C		.	.	.	.	.	.	.	.	.	.	C	27.0	4.787725	0.90367	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000440282;ENST00000396898;ENST00000378605	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.63	5.63	0.86233	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.52789	0.1756	N	0.08118	0	0.53688	D	0.99997	D;D;D	0.89917	1.0;0.997;0.996	D;D;D	0.87578	0.998;0.994;0.99	T	0.63699	-0.6578	10	0.87932	D	0	-21.2535	20.0442	0.97604	0.0:1.0:0.0:0.0	.	386;373;321	E5RFC0;Q8N7W2;Q8N7W2-3	.;BEND7_HUMAN;.	T	373;321;77;386;334	ENSP00000380108:R373T;ENSP00000345773:R321T;ENSP00000401256:R77T;ENSP00000380107:R386T;ENSP00000367868:R334T	ENSP00000345773:R321T	R	-	2	0	BEND7	13534610	1.000000	0.71417	0.983000	0.44433	0.981000	0.71138	7.398000	0.79919	2.814000	0.96858	0.655000	0.94253	AGA		0.363	BEND7-202	KNOWN	basic	protein_coding	protein_coding			NM_152751		21	70	0	0	0	1	0	21	70		
VIM	7431	broad.mit.edu	37	10	17271570	17271570	+	Missense_Mutation	SNP	G	G	A	rs11545553		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:17271570G>A	ENST00000224237.5	+	1	294	c.149G>A	c.(148-150)cGc>cAc	p.R50H	VIM_ENST00000485947.1_3'UTR|VIM-AS1_ENST00000437232.1_RNA|VIM-AS1_ENST00000605833.1_RNA|VIM_ENST00000544301.1_Missense_Mutation_p.R50H			P08670	VIME_HUMAN	vimentin	50	Head.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCACCAGCCGCAGCCTCTAC	0.756																																						uc001iou.2		NaN																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(148-150)CGC>CAC		vimentin							9.0	11.0	10.0					10																	17271570		2171	4221	6392	SO:0001583	missense	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17271570G>A	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.149G>A	10.37:g.17271570G>A	ENSP00000224237:p.Arg50His					uc001iot.1_RNA|VIM_uc001iov.1_Missense_Mutation_p.R50H|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.R50H|VIM_uc001ioy.1_Missense_Mutation_p.R50H|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.R50H|VIM_uc001ipc.1_Missense_Mutation_p.R50H	p.R50H	NM_003380	NP_003371	P08670	VIME_HUMAN			2	562	+			50	Missing (in Ref. 5; BAB71275).		Head.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	37	c.149G>A	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893592	0.72639	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533	D;D	0.84146	-1.81;-1.81	5.29	5.29	0.74685	Intermediate filament head, DNA-binding domain (1);	0.000000	0.47455	D	0.000222	D	0.92176	0.7519	M	0.81497	2.545	0.50632	D	0.99988	D;B;D;D;D	0.76494	0.995;0.007;0.969;0.999;0.995	P;B;B;D;P	0.68621	0.86;0.009;0.429;0.959;0.86	D	0.90739	0.4648	10	0.30854	T	0.27	.	18.9346	0.92580	0.0:0.0:1.0:0.0	rs11545553	50;37;37;50;50	Q53HU8;F5H288;B3KRK8;B0YJC4;P08670	.;.;.;.;VIME_HUMAN	H	50;50;37	ENSP00000446007:R50H;ENSP00000224237:R50H	ENSP00000224237:R50H	R	+	2	0	VIM	17311576	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.857000	0.48349	2.471000	0.83476	0.551000	0.68910	CGC		0.756	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1		NM_003380		9	22	0	0	0	1	0	9	22		
ANKRD26	22852	broad.mit.edu	37	10	27294520	27294520	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:27294520C>G	ENST00000376087.4	-	34	5297	c.5132G>C	c.(5131-5133)tGa>tCa	p.*1711S	ANKRD26_ENST00000436985.2_Nonstop_Mutation_p.*1727S|ANKRD26_ENST00000376070.3_Nonstop_Mutation_p.*1268S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	0					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCTTATCTTTCAGATCATATA	0.279																																						uc001ith.2		NaN																	0				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(5128-5130)TGA>TCA		ankyrin repeat domain 26							66.0	67.0	67.0					10																	27294520		1782	4055	5837	SO:0001578	stop_lost	22852					centrosome		g.chr10:27294520C>G	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.5132G>C	10.37:g.27294520C>G						ANKRD26_uc001itg.2_Nonstop_Mutation_p.*1397S|ANKRD26_uc009xku.1_Nonstop_Mutation_p.*1711S	p.*1710S	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			34	5301	-			1710					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Nonstop_Mutation	SNP	ENST00000376087.4	37	c.5129G>C	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056272	0.36277	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	.	.	.	4.57	-1.99	0.07457	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.679	0.08304	0.2706:0.334:0.0:0.3955	.	.	.	.	S	1268;1711;1727	.	.	X	-	2	2	ANKRD26	27334526	0.833000	0.29383	0.003000	0.11579	0.613000	0.37349	-0.384000	0.07389	-0.299000	0.08909	0.313000	0.20887	TGA		0.279	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1				17	55	0	0	0	1	0	17	55		
YME1L1	10730	broad.mit.edu	37	10	27403470	27403470	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:27403470C>G	ENST00000326799.3	-	19	2306	c.2158G>C	c.(2158-2160)Gaa>Caa	p.E720Q	YME1L1_ENST00000375972.3_Missense_Mutation_p.E630Q|YME1L1_ENST00000376016.3_Missense_Mutation_p.E663Q	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	720					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATTCTTATTTCTTGTTCGATG	0.328																																						uc001iti.2		NaN																	0				ovary(1)	1						c.(2158-2160)GAA>CAA		YME1-like 1 isoform 1							102.0	99.0	100.0					10																	27403470		2203	4300	6503	SO:0001583	missense	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27403470C>G	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.2158G>C	10.37:g.27403470C>G	ENSP00000318480:p.Glu720Gln					YME1L1_uc001itj.2_Missense_Mutation_p.E663Q|YME1L1_uc010qdl.1_Missense_Mutation_p.E630Q|YME1L1_uc009xkv.2_RNA	p.E720Q	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN			19	2340	-			720					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	c.2158G>C	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424331	0.62733	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000546122	D;D;D	0.86297	-2.1;-2.1;-2.1	5.36	5.36	0.76844	Peptidase M41 (1);Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.93749	0.8002	M	0.77712	2.385	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.996	D;D;D	0.97110	0.996;1.0;0.983	D	0.94108	0.7368	10	0.87932	D	0	-24.2002	19.4494	0.94861	0.0:1.0:0.0:0.0	.	630;663;720	B4DNM1;Q96TA2-2;Q96TA2	.;.;YMEL1_HUMAN	Q	663;720;720;630;466	ENSP00000365184:E663Q;ENSP00000318480:E720Q;ENSP00000365139:E630Q	ENSP00000318480:E720Q	E	-	1	0	YME1L1	27443476	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	7.747000	0.85070	2.645000	0.89757	0.650000	0.86243	GAA		0.328	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1		NM_139312		10	39	0	0	0	1	0	10	39		
MASTL	84930	broad.mit.edu	37	10	27458964	27458964	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:27458964G>A	ENST00000375940.4	+	8	1133	c.1076G>A	c.(1075-1077)gGt>gAt	p.G359D	MASTL_ENST00000375946.4_Missense_Mutation_p.G359D|MASTL_ENST00000342386.6_Missense_Mutation_p.G359D|MASTL_ENST00000477034.1_3'UTR			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	359	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGACGAAAGGTTTCAATAAA	0.433																																						uc001itm.2		NaN																	0				stomach(1)|ovary(1)|lung(1)	3						c.(1075-1077)GGT>GAT		microtubule associated serine/threonine							100.0	97.0	98.0					10																	27458964		2203	4300	6503	SO:0001583	missense	84930				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity	g.chr10:27458964G>A	BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1076G>A	10.37:g.27458964G>A	ENSP00000365107:p.Gly359Asp					MASTL_uc001itl.2_Missense_Mutation_p.G359D|MASTL_uc009xkw.1_Missense_Mutation_p.G359D|MASTL_uc009xkx.1_RNA	p.G359D	NM_032844	NP_116233	Q96GX5	GWL_HUMAN			8	1715	+			359			Protein kinase.		Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	ENST00000375940.4	37	c.1076G>A	CCDS53502.1	.	.	.	.	.	.	.	.	.	.	G	5.507	0.278483	0.10403	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.79141	-1.24;-1.24;-1.24	5.44	4.5	0.54988	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.390613	0.30742	N	0.008961	T	0.60702	0.2289	N	0.22421	0.69	0.09310	N	1	B;B;B	0.27416	0.178;0.112;0.178	B;B;B	0.27380	0.036;0.036;0.079	T	0.47100	-0.9143	10	0.22109	T	0.4	-6.1131	6.9013	0.24285	0.0979:0.0:0.7197:0.1824	.	359;359;359	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	D	359	ENSP00000365113:G359D;ENSP00000343446:G359D;ENSP00000365107:G359D	ENSP00000343446:G359D	G	+	2	0	MASTL	27498970	0.473000	0.25878	0.059000	0.19551	0.081000	0.17604	0.777000	0.26718	1.188000	0.43014	0.650000	0.86243	GGT		0.433	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1		NM_032844		18	73	0	0	0	1	0	18	73		
MKX	283078	broad.mit.edu	37	10	28032180	28032180	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:28032180G>C	ENST00000375790.5	-	2	597	c.165C>G	c.(163-165)ctC>ctG	p.L55L	RP11-360I20.2_ENST00000419777.1_RNA|MKX_ENST00000419761.1_Silent_p.L55L			Q8IYA7	MKX_HUMAN	mohawk homeobox	55					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	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)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GTCTCAGGCCGAGGTTGTCCT	0.746																																						uc001ity.3		NaN																	0				ovary(1)	1						c.(163-165)CTC>CTG		mohawk homeobox							25.0	29.0	28.0					10																	28032180		2195	4291	6486	SO:0001819	synonymous_variant	283078				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:28032180G>C	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"""Homeoboxes / TALE class"""	23729	protein-coding gene	gene with protein product		601332	"""chromosome 10 open reading frame 48"", ""iroquois homeobox protein-like 1"""	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.165C>G	10.37:g.28032180G>C						MKX_uc001itx.3_Silent_p.L55L	p.L55L	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN			2	390	-			55					B3KWM5	Silent	SNP	ENST00000375790.5	37	c.165C>G	CCDS7156.1																																																																																				0.746	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3		NM_173576		4	22	0	0	0	1	0	4	22		
SVIL	6840	broad.mit.edu	37	10	29754631	29754631	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:29754631G>A	ENST00000355867.4	-	34	6778	c.6026C>T	c.(6025-6027)tCc>tTc	p.S2009F	SVIL_ENST00000375398.2_Missense_Mutation_p.S2009F|SVIL_ENST00000375400.3_Missense_Mutation_p.S1583F|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.S923F|PTCHD3P1_ENST00000445521.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	2009					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ATCCCCAGAGGAGCTGCTGAG	0.512																																						uc001iut.1		NaN																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(6025-6027)TCC>TTC		supervillin isoform 2							31.0	35.0	34.0					10																	29754631		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29754631G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.6026C>T	10.37:g.29754631G>A	ENSP00000348128:p.Ser2009Phe					LOC387647_uc001iuo.1_Intron|LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.S923F|SVIL_uc001iuu.1_Missense_Mutation_p.S1583F	p.S2009F	NM_021738	NP_068506	O95425	SVIL_HUMAN			34	6779	-		Breast(68;0.103)	2009					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.6026C>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850479	0.71719	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	3.8	0.43715	.	0.150732	0.64402	D	0.000010	T	0.49133	0.1539	L	0.60845	1.875	0.80722	D	1	P;D;D	0.64830	0.951;0.993;0.994	P;D;P	0.63597	0.894;0.916;0.885	T	0.53641	-0.8410	10	0.72032	D	0.01	-12.7536	14.8993	0.70666	0.0:0.1443:0.8557:0.0	.	923;1583;2009	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	F	1583;2009;2009;923	ENSP00000364549:S1583F;ENSP00000364547:S2009F;ENSP00000348128:S2009F;ENSP00000445472:S923F	ENSP00000348128:S2009F	S	-	2	0	SVIL	29794637	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	4.988000	0.63863	1.162000	0.42619	0.650000	0.86243	TCC		0.512	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1				6	44	0	0	0	1	0	6	44		
EPC1	80314	broad.mit.edu	37	10	32575725	32575725	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:32575725C>T	ENST00000263062.8	-	9	1557	c.1288G>A	c.(1288-1290)Gat>Aat	p.D430N	EPC1_ENST00000375110.2_Missense_Mutation_p.D380N|EPC1_ENST00000319778.6_Missense_Mutation_p.D430N	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	430					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)				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)				AATCCTCCATCTTTAGGACTA	0.418																																						uc001iwg.1		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(1288-1290)GAT>AAT		enhancer of polycomb 1							111.0	94.0	100.0					10																	32575725		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.chr10:32575725C>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.1288G>A	10.37:g.32575725C>T	ENSP00000263062:p.Asp430Asn					EPC1_uc001iwi.3_Missense_Mutation_p.D380N|EPC1_uc009xlt.2_Missense_Mutation_p.D380N|EPC1_uc001iwh.1_Missense_Mutation_p.D430N	p.D430N	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN			9	1558	-		Prostate(175;0.0199)	430					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	c.1288G>A	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494830	0.64186	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.18502	2.21;2.21;2.21	5.47	5.47	0.80525	.	0.094484	0.64402	D	0.000001	T	0.21062	0.0507	L	0.40543	1.245	0.46203	D	0.998925	B;B;B;B	0.30146	0.243;0.184;0.27;0.023	B;B;B;B	0.37780	0.119;0.098;0.258;0.027	T	0.04065	-1.0980	10	0.21014	T	0.42	-14.2747	19.3216	0.94243	0.0:1.0:0.0:0.0	.	430;380;430;430	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	N	380;430;430	ENSP00000364251:D380N;ENSP00000318559:D430N;ENSP00000263062:D430N	ENSP00000263062:D430N	D	-	1	0	EPC1	32615731	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.294000	0.78760	2.551000	0.86045	0.563000	0.77884	GAT		0.418	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1				9	37	0	0	0	1	0	9	37		
RET	5979	broad.mit.edu	37	10	43615571	43615571	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:43615571G>A	ENST00000355710.3	+	15	2882	c.2650G>A	c.(2650-2652)Gag>Aag	p.E884K	RET_ENST00000340058.5_Missense_Mutation_p.E884K	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	884	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E884K(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCTGGTAGCTGAGGGGCGGAA	0.562		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	uc001jal.2		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	T|Mis|N|F	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma		1	Substitution - Missense(1)	p.E884K(1)	thyroid(1)	thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451						c.(2650-2652)GAG>AAG		ret proto-oncogene isoform a	Sunitinib(DB01268)						89.0	77.0	81.0					10																	43615571		2203	4300	6503	SO:0001583	missense	5979	Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43615571G>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2650G>A	10.37:g.43615571G>A	ENSP00000347942:p.Glu884Lys					RET_uc001jak.1_Missense_Mutation_p.E884K|RET_uc010qez.1_Missense_Mutation_p.E630K	p.E884K	NM_020975	NP_066124	P07949	RET_HUMAN			15	2840	+		Ovarian(717;0.0423)	884			Protein kinase.|Cytoplasmic (Potential).		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.2650G>A	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	36	5.852723	0.97030	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.82984	-1.67;-1.67	5.58	5.58	0.84498	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86875	0.6038	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.987;0.997;0.998	D	0.87833	0.2646	10	0.59425	D	0.04	.	19.5746	0.95436	0.0:0.0:1.0:0.0	.	630;884;884	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	K	884	ENSP00000347942:E884K;ENSP00000344798:E884K	ENSP00000344798:E884K	E	+	1	0	RET	42935577	1.000000	0.71417	0.988000	0.46212	0.966000	0.64601	9.869000	0.99810	2.638000	0.89438	0.655000	0.94253	GAG		0.562	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2		NM_020975		12	35	0	0	0	1	0	12	35		
C10orf128	170371	broad.mit.edu	37	10	50374939	50374939	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:50374939C>G	ENST00000474718.1	-	3	235	c.213G>C	c.(211-213)ctG>ctC	p.L71L	C10orf128_ENST00000374151.3_Silent_p.L71L|C10orf128_ENST00000470884.1_5'UTR|C10orf128_ENST00000374148.1_Silent_p.L71L|C10orf128_ENST00000374153.2_Silent_p.L71L	NM_001010863.1	NP_001010863.1	Q5T292	CJ128_HUMAN	chromosome 10 open reading frame 128	71						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)	3						GCGTGCTTTTCAGGTCGGAAG	0.612																																						uc001jhn.3		NaN																	0				lung(1)	1						c.(211-213)CTG>CTC		hypothetical protein LOC170371 precursor							73.0	77.0	75.0					10																	50374939		2023	4188	6211	SO:0001819	synonymous_variant	170371					integral to membrane		g.chr10:50374939C>G	BC031641	CCDS41519.1, CCDS73128.1	10q11.23	2012-06-13			ENSG00000204161	ENSG00000204161			27274	protein-coding gene	gene with protein product						12477932	Standard	NM_001010863		Approved	Em:AC084727.5	uc001jhn.4	Q5T292	OTTHUMG00000018188	ENST00000474718.1:c.213G>C	10.37:g.50374939C>G						C10orf128_uc001jhl.3_RNA|C10orf128_uc001jhm.3_Silent_p.L71L|C10orf128_uc010qgo.1_Silent_p.L71L|C10orf128_uc001jho.3_Silent_p.L71L	p.L71L	NM_001010863	NP_001010863	Q5T292	CJ128_HUMAN			3	239	-			71			Cytoplasmic (Potential).		A6XND2|Q5T289|Q5T291	Silent	SNP	ENST00000474718.1	37	c.213G>C	CCDS41519.1																																																																																				0.612	C10orf128-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047978.1		NM_001010863		28	80	0	0	0	1	0	28	80		
ERCC6	2074	broad.mit.edu	37	10	50678885	50678885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:50678885G>A	ENST00000355832.5	-	18	3199	c.3121C>T	c.(3121-3123)Caa>Taa	p.Q1041*	ERCC6_ENST00000542458.1_Nonsense_Mutation_p.Q411*|ERCC6_ENST00000465653.1_5'Flank|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1041					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAGGCTGGTTGAATCCTTCTT	0.393								Direct reversal of damage;Nucleotide excision repair (NER)																														uc001jhs.3		NaN																	0				lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						c.(3121-3123)CAA>TAA	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							131.0	132.0	131.0					10																	50678885		2203	4300	6503	SO:0001587	stop_gained	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50678885G>A	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.3121C>T	10.37:g.50678885G>A	ENSP00000348089:p.Gln1041*					ERCC6_uc009xod.2_Nonsense_Mutation_p.Q201*|ERCC6_uc010qgr.1_Nonsense_Mutation_p.Q411*|ERCC6_uc001jhr.3_Nonsense_Mutation_p.Q409*	p.Q1041*	NM_000124	NP_000115	Q03468	ERCC6_HUMAN			18	3275	-			1041			Nuclear localization signal (Potential).		D3DX94|Q5W0L9	Nonsense_Mutation	SNP	ENST00000355832.5	37	c.3121C>T	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	G	37	6.389751	0.97529	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	.	.	.	5.95	3.0	0.34707	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	1.1475	6.1336	0.20219	0.069:0.247:0.5565:0.1275	.	.	.	.	X	1041;418;411	.	ENSP00000348089:Q1041X	Q	-	1	0	ERCC6	50348891	0.014000	0.17966	0.000000	0.03702	0.053000	0.15095	1.873000	0.39558	0.366000	0.24427	0.655000	0.94253	CAA		0.393	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1		NM_000124		24	89	0	0	0	1	0	24	89		
CHAT	1103	broad.mit.edu	37	10	50857645	50857645	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:50857645C>G	ENST00000337653.2	+	10	1627	c.1474C>G	c.(1474-1476)Caa>Gaa	p.Q492E	CHAT_ENST00000455728.2_Missense_Mutation_p.Q374E|CHAT_ENST00000351556.3_Missense_Mutation_p.Q374E|CHAT_ENST00000395559.2_Missense_Mutation_p.Q374E|CHAT_ENST00000339797.1_Missense_Mutation_p.Q374E|CHAT_ENST00000395562.2_Missense_Mutation_p.Q410E	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	492					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CCCGGAAATTCAAGGCCACTT	0.617																																						uc001jhz.2		NaN																	0				central_nervous_system(3)	3						c.(1474-1476)CAA>GAA		choline acetyltransferase isoform 2	Choline(DB00122)						44.0	49.0	47.0					10																	50857645		2203	4299	6502	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50857645C>G	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1474C>G	10.37:g.50857645C>G	ENSP00000337103:p.Gln492Glu					CHAT_uc001jhv.1_Missense_Mutation_p.Q374E|CHAT_uc001jhx.1_Missense_Mutation_p.Q374E|CHAT_uc001jhy.1_Missense_Mutation_p.Q374E|CHAT_uc001jia.2_Missense_Mutation_p.Q374E|CHAT_uc010qgs.1_Missense_Mutation_p.Q374E	p.Q492E	NM_020549	NP_065574	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	10	1627	+		all_neural(218;0.107)	492					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.1474C>G	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845322	0.51164	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	5.04	5.04	0.67666	.	0.243506	0.43747	D	0.000522	D	0.88448	0.6439	L	0.49571	1.57	0.80722	D	1	B;B	0.30326	0.011;0.276	B;B	0.36534	0.006;0.227	D	0.87383	0.2358	10	0.51188	T	0.08	-11.4011	18.3655	0.90389	0.0:1.0:0.0:0.0	.	374;492	F8W8I2;P28329	.;CLAT_HUMAN	E	374;374;374;492;410;374	ENSP00000343486:Q374E;ENSP00000345878:Q374E;ENSP00000378926:Q374E;ENSP00000337103:Q492E;ENSP00000378929:Q410E;ENSP00000390521:Q374E	ENSP00000337103:Q492E	Q	+	1	0	CHAT	50527651	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	7.487000	0.81328	2.322000	0.78497	0.462000	0.41574	CAA		0.617	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1		NM_020549		22	98	0	0	0	1	0	22	98		
AGAP6	414189	broad.mit.edu	37	10	51768909	51768909	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:51768909G>T	ENST00000374056.4	+	7	1353	c.955G>T	c.(955-957)Gga>Tga	p.G319*	AGAP6_ENST00000412531.3_Nonsense_Mutation_p.G342*			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	319	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CAAAGTCCCAGGAAAGTGGCC	0.463																																						uc001jix.3		NaN																	0				skin(1)	1						c.(1024-1026)GGA>TGA		ArfGAP with GTPase domain, ankyrin repeat and PH																																				SO:0001587	stop_gained	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51768909G>T		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.955G>T	10.37:g.51768909G>T	ENSP00000363168:p.Gly319*						p.G342*	NM_001077665	NP_001071133	Q5VW22	AGAP6_HUMAN			8	1422	+			342						Nonsense_Mutation	SNP	ENST00000374056.4	37	c.1024G>T		.	.	.	.	.	.	.	.	.	.	.	31	5.072480	0.93950	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	.	.	.	0.0465	0.0465	0.14256	.	0.063363	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.9248	0.19104	7.0E-4:0.0:0.9993:0.0	.	.	.	.	X	342;319	.	ENSP00000363168:G342X	G	+	1	0	AGAP6	51438915	1.000000	0.71417	0.036000	0.18154	0.036000	0.12997	6.100000	0.71473	0.132000	0.18615	0.134000	0.15878	GGA		0.463	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_001077665		35	141	1	0	7.57603e-17	1	8.02642e-17	35	141		
AGAP6	414189	broad.mit.edu	37	10	51769497	51769497	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:51769497G>A	ENST00000374056.4	+	7	1941	c.1543G>A	c.(1543-1545)Gac>Aac	p.D515N	AGAP6_ENST00000412531.3_Missense_Mutation_p.D538N			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	515	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						TATTGTCAATGACCTAGCCAA	0.537																																						uc001jix.3		NaN																	0				skin(1)	1						c.(1612-1614)GAC>AAC		ArfGAP with GTPase domain, ankyrin repeat and PH																																				SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51769497G>A		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.1543G>A	10.37:g.51769497G>A	ENSP00000363168:p.Asp515Asn						p.D538N	NM_001077665	NP_001071133	Q5VW22	AGAP6_HUMAN			8	2010	+			538						Missense_Mutation	SNP	ENST00000374056.4	37	c.1612G>A		.	.	.	.	.	.	.	.	.	.	.	14.80	2.644442	0.47258	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	.	.	.	0.0465	0.0465	0.14256	.	0.052581	0.85682	D	0.000000	T	0.26048	0.0635	L	0.34521	1.04	0.30333	N	0.786462	B	0.29936	0.262	B	0.28232	0.087	T	0.12656	-1.0539	9	0.51188	T	0.08	.	5.9248	0.19104	7.0E-4:0.0:0.9993:0.0	.	538	C9IYN2	.	N	538;515	.	ENSP00000363168:D538N	D	+	1	0	AGAP6	51439503	1.000000	0.71417	0.128000	0.21923	0.129000	0.20672	4.665000	0.61547	0.132000	0.18615	0.134000	0.15878	GAC		0.537	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_001077665		63	192	0	0	0	1	0	63	192		
CSTF2T	23283	broad.mit.edu	37	10	53459127	53459127	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:53459127G>T	ENST00000331173.4	-	1	228	c.183C>A	c.(181-183)ttC>ttA	p.F61L	PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	61	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GGTATTCGCAGAAGCCATAGC	0.547																																						uc001jjp.2		NaN																	0				ovary(1)	1						c.(181-183)TTC>TTA		cleavage stimulation factor, 3' pre-RNA, subunit							116.0	125.0	122.0					10																	53459127		2203	4300	6503	SO:0001583	missense	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53459127G>T	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.183C>A	10.37:g.53459127G>T	ENSP00000332444:p.Phe61Leu					PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	p.F61L	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	229	-			61			RRM.		B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	37	c.183C>A	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476197	0.63737	.	.	ENSG00000177613	ENST00000331173	D	0.82619	-1.63	4.77	4.77	0.60923	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.91583	0.7341	M	0.91663	3.23	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.92110	0.5695	10	0.87932	D	0	-8.6071	9.1164	0.36760	0.0978:0.0:0.9022:0.0	.	61	Q9H0L4	CSTFT_HUMAN	L	61	ENSP00000332444:F61L	ENSP00000332444:F61L	F	-	3	2	CSTF2T	53129133	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.864000	0.48404	2.651000	0.90000	0.491000	0.48974	TTC		0.547	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1		NM_015235		51	189	1	0	6.23363e-37	1	6.6668e-37	51	189		
ANK3	288	broad.mit.edu	37	10	61815494	61815494	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:61815494C>T	ENST00000280772.2	-	42	13178	c.12987G>A	c.(12985-12987)atG>atA	p.M4329I	RP11-388P9.2_ENST00000414383.1_RNA|ANK3_ENST00000373827.2_Missense_Mutation_p.M1813I|ANK3_ENST00000355288.2_Missense_Mutation_p.M953I|ANK3_ENST00000503366.1_Missense_Mutation_p.M1820I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4329					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)			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						AAGTCCTACTCATCTTTTTCA	0.473																																						uc001jky.2		NaN																	0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(12985-12987)ATG>ATA		ankyrin 3 isoform 1							264.0	250.0	255.0					10																	61815494		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61815494C>T	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.12987G>A	10.37:g.61815494C>T	ENSP00000280772:p.Met4329Ile					ANK3_uc001jkw.2_Missense_Mutation_p.M953I|ANK3_uc009xpa.2_Missense_Mutation_p.M953I|ANK3_uc001jkx.2_Missense_Mutation_p.M997I|ANK3_uc010qih.1_Missense_Mutation_p.M1820I|ANK3_uc001jkz.3_Missense_Mutation_p.M1813I|ANK3_uc001jkv.2_Missense_Mutation_p.M352I	p.M4329I	NM_020987	NP_066267	Q12955	ANK3_HUMAN			42	13179	-			4329					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.12987G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194405	0.78902	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000373820;ENST00000502769;ENST00000355288;ENST00000503366;ENST00000395299;ENST00000373817	T;T;T;T;T;T	0.79247	-0.25;-0.64;-1.25;0.61;0.16;-0.63	6.03	6.03	0.97812	.	0.000000	0.51477	D	0.000096	T	0.70002	0.3174	L	0.27053	0.805	0.80722	D	1	B;B;B;B;B;B;B	0.27882	0.009;0.039;0.009;0.192;0.065;0.039;0.044	B;B;B;B;B;B;B	0.34180	0.003;0.012;0.004;0.177;0.027;0.012;0.009	T	0.66027	-0.6025	10	0.37606	T	0.19	.	14.6767	0.68986	0.0:0.9312:0.0:0.0688	.	1820;953;1813;4329;1054;953;352	E9PE32;A8KA62;Q5CZH9;Q12955;F5GXK0;B1AQT2;B1AQT0	.;.;.;ANK3_HUMAN;.;.;.	I	4329;1813;411;101;953;1820;1799;1054	ENSP00000280772:M4329I;ENSP00000362933:M1813I;ENSP00000362926:M411I;ENSP00000423057:M101I;ENSP00000347436:M953I;ENSP00000425236:M1820I	ENSP00000280772:M4329I	M	-	3	0	ANK3	61485500	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.081000	0.57627	2.868000	0.98415	0.555000	0.69702	ATG		0.473	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4		NM_020987		79	216	0	0	0	1	0	79	216		
JMJD1C	221037	broad.mit.edu	37	10	64952854	64952854	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:64952854G>A	ENST00000399262.2	-	16	6138	c.5920C>T	c.(5920-5922)Cag>Tag	p.Q1974*	JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.Q1792*|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.Q1737*	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1974					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTTTGCTGCTGAGACTCAGGC	0.393																																						uc001jmn.2		NaN																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(5920-5922)CAG>TAG		jumonji domain containing 1C isoform a							103.0	93.0	96.0					10																	64952854		1894	4132	6026	SO:0001587	stop_gained	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64952854G>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5920C>T	10.37:g.64952854G>A	ENSP00000382204:p.Gln1974*					JMJD1C_uc001jml.2_Nonsense_Mutation_p.Q1737*|JMJD1C_uc001jmm.2_Nonsense_Mutation_p.Q1686*|JMJD1C_uc010qiq.1_Nonsense_Mutation_p.Q1792*|JMJD1C_uc009xpi.2_Nonsense_Mutation_p.Q1792*|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_5'Flank|JMJD1C_uc009xpk.1_Nonsense_Mutation_p.Q872*	p.Q1974*	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			16	6220	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1974					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Nonsense_Mutation	SNP	ENST00000399262.2	37	c.5920C>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	47	13.150298	0.99723	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921	.	.	.	5.85	5.85	0.93711	.	0.309274	0.35739	N	0.003016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-3.0946	19.7557	0.96287	0.0:0.0:1.0:0.0	.	.	.	.	X	1974;1737;1792	.	ENSP00000382204:Q1974X	Q	-	1	0	JMJD1C	64622860	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.033000	0.57282	2.772000	0.95346	0.650000	0.86243	CAG		0.393	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2		NM_004241		19	59	0	0	0	1	0	19	59		
MYPN	84665	broad.mit.edu	37	10	69902716	69902716	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:69902716G>T	ENST00000358913.5	+	3	1410	c.922G>T	c.(922-924)Gag>Tag	p.E308*	MYPN_ENST00000354393.2_Nonsense_Mutation_p.E33*|MYPN_ENST00000373675.3_Nonsense_Mutation_p.E308*|MYPN_ENST00000540630.1_Nonsense_Mutation_p.E308*	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	308	Ig-like 1.|Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TGAAGGCAAGGAGCTTGAAAA	0.453																																						uc001jnm.3		NaN																	0				ovary(3)|skin(2)	5						c.(922-924)GAG>TAG		myopalladin							119.0	110.0	113.0					10																	69902716		2203	4300	6503	SO:0001587	stop_gained	84665					nucleus|sarcomere	actin binding	g.chr10:69902716G>T	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.922G>T	10.37:g.69902716G>T	ENSP00000351790:p.Glu308*					MYPN_uc001jnl.1_Nonsense_Mutation_p.E308*|MYPN_uc001jnn.3_Nonsense_Mutation_p.E33*|MYPN_uc001jno.3_Nonsense_Mutation_p.E308*|MYPN_uc001jnp.1_Nonsense_Mutation_p.E308*|MYPN_uc009xps.2_Nonsense_Mutation_p.E308*|MYPN_uc009xpt.2_Nonsense_Mutation_p.E308*|MYPN_uc010qit.1_Nonsense_Mutation_p.E14*|MYPN_uc010qiu.1_RNA	p.E308*	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			4	1107	+			308			Interaction with CARP.|Ig-like 1.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Nonsense_Mutation	SNP	ENST00000358913.5	37	c.922G>T	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	44	10.663210	0.99446	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630;ENST00000373675	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6056	0.95580	0.0:0.0:1.0:0.0	.	.	.	.	X	33;33;308;308;308	.	.	E	+	1	0	MYPN	69572722	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.776000	0.99001	2.625000	0.88918	0.655000	0.94253	GAG		0.453	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1		NM_032578		14	60	1	0	2.23348e-06	1	2.29586e-06	14	60		
ATOH7	220202	broad.mit.edu	37	10	69991290	69991290	+	Missense_Mutation	SNP	C	C	T	rs560230254	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:69991290C>T	ENST00000373673.3	-	1	581	c.145G>A	c.(145-147)Gag>Aag	p.E49K	RP11-153K11.3_ENST00000444086.1_lincRNA	NM_145178.3	NP_660161.1	Q8N100	ATOH7_HUMAN	atonal homolog 7 (Drosophila)	49	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|neural retina development (GO:0003407)|optic nerve development (GO:0021554)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)										CGGCGGCGCTCGCGCGCGTTG	0.736																																						uc001jnq.2		NaN																	0					0						c.(145-147)GAG>AAG		atonal homolog 7							22.0	22.0	22.0					10																	69991290		2199	4294	6493	SO:0001583	missense	220202				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr10:69991290C>T	AF418922	CCDS7276.1	10q22.2	2013-05-21			ENSG00000179774	ENSG00000179774		"""Basic helix-loop-helix proteins"""	13907	protein-coding gene	gene with protein product		609875				11889557	Standard	NM_145178		Approved	Math5, bHLHa13	uc001jnq.3	Q8N100	OTTHUMG00000018346	ENST00000373673.3:c.145G>A	10.37:g.69991290C>T	ENSP00000362777:p.Glu49Lys						p.E49K	NM_145178	NP_660161	Q8N100	ATOH7_HUMAN			1	566	-			49			Basic motif.			Missense_Mutation	SNP	ENST00000373673.3	37	c.145G>A	CCDS7276.1	.	.	.	.	.	.	.	.	.	.	C	36	5.685996	0.96784	.	.	ENSG00000179774	ENST00000373673	D	0.99730	-6.56	4.9	3.99	0.46301	Helix-loop-helix DNA-binding (5);	0.101938	0.64402	D	0.000004	D	0.99771	0.9906	H	0.97732	4.065	0.80722	D	1	D	0.76494	0.999	P	0.61477	0.889	D	0.97385	0.9985	9	.	.	.	-24.7044	12.8803	0.58014	0.0:0.9206:0.0:0.0794	.	49	Q8N100	ATOH7_HUMAN	K	49	ENSP00000362777:E49K	.	E	-	1	0	ATOH7	69661296	1.000000	0.71417	0.991000	0.47740	0.675000	0.39556	7.732000	0.84908	1.054000	0.40438	0.478000	0.44815	GAG		0.736	ATOH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048312.1				7	22	0	0	0	1	0	7	22		
HKDC1	80201	broad.mit.edu	37	10	71008329	71008329	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:71008329G>A	ENST00000354624.5	+	10	1548	c.1415G>A	c.(1414-1416)aGg>aAg	p.R472K	HKDC1_ENST00000395086.2_Missense_Mutation_p.R472K|HKDC1_ENST00000488706.1_3'UTR	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	472	Hexokinase type-1 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CAGATCGACAGGGTGCTGGCT	0.652																																						uc001jpf.3		NaN																	0				ovary(4)|skin(1)	5						c.(1414-1416)AGG>AAG		hexokinase domain containing 1							41.0	42.0	41.0					10																	71008329		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71008329G>A		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1415G>A	10.37:g.71008329G>A	ENSP00000346643:p.Arg472Lys					HKDC1_uc010qje.1_Missense_Mutation_p.R335K	p.R472K	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN			10	1548	+			472					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.1415G>A	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	G	8.052	0.766144	0.15983	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.97906	-4.6;-4.6	4.85	0.959	0.19624	Hexokinase, N-terminal (1);	0.791679	0.11895	N	0.519262	D	0.90010	0.6881	N	0.03000	-0.44	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.83343	-0.0007	10	0.27785	T	0.31	-1.8459	6.5108	0.22220	0.6201:0.2159:0.164:0.0	.	472	Q2TB90	HKDC1_HUMAN	K	472	ENSP00000346643:R472K;ENSP00000378521:R472K	ENSP00000346643:R472K	R	+	2	0	HKDC1	70678335	0.000000	0.05858	0.146000	0.22360	0.268000	0.26511	0.323000	0.19593	0.351000	0.24027	-0.487000	0.04747	AGG		0.652	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1		NM_025130		23	52	0	0	0	1	0	23	52		
CDH23	64072	broad.mit.edu	37	10	73437306	73437306	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:73437306G>A	ENST00000224721.6	+	15	1628	c.1623G>A	c.(1621-1623)cgG>cgA	p.R541R	CDH23_ENST00000299366.7_Silent_p.R581R	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	536	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCATTGCCCGGGACGGGGGCG	0.602																																						uc001jrx.3		NaN																	0				central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(1606-1608)CGG>CGA		cadherin-like 23 isoform 1 precursor							34.0	36.0	36.0					10																	73437306		2070	4218	6288	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73437306G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.1623G>A	10.37:g.73437306G>A						CDH23_uc001jry.2_Silent_p.R152R|CDH23_uc001jrz.2_Silent_p.R152R	p.R536R	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			15	1985	+			536			Cadherin 5.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.1608G>A																																																																																					0.602	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4		NM_052836		8	18	0	0	0	1	0	8	18		
NDST2	8509	broad.mit.edu	37	10	75567556	75567556	+	Silent	SNP	G	G	A	rs369225934		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:75567556G>A	ENST00000309979.6	-	3	1147	c.591C>T	c.(589-591)ctC>ctT	p.L197L	NDST2_ENST00000299641.4_Silent_p.L74L|NDST2_ENST00000398701.2_5'Flank|RP11-574K11.31_ENST00000603027.1_Silent_p.L197L			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	197	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					GGTAGTCCCGGAGCCCCAAGT	0.577																																						uc001jvk.2		NaN																	0				ovary(1)	1						c.(589-591)CTC>CTT		heparan glucosaminyl		G		0,4406		0,0,2203	53.0	54.0	54.0		591	-4.1	0.9	10		54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NDST2	NM_003635.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		197/884	75567556	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8509					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr10:75567556G>A	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.591C>T	10.37:g.75567556G>A						NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Silent_p.L74L|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Silent_p.L74L	p.L197L	NM_003635	NP_003626	P52849	NDST2_HUMAN			3	1395	-	Prostate(51;0.0112)		197			Lumenal (Potential).|Heparan sulfate N-deacetylase 2.		Q2TB32|Q59H89	Silent	SNP	ENST00000309979.6	37	c.591C>T	CCDS7335.1																																																																																				0.577	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1		NM_003635		17	63	0	0	0	1	0	17	63		
ZNF503	84858	broad.mit.edu	37	10	77158843	77158843	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:77158843C>T	ENST00000372524.4	-	2	2091	c.1605G>A	c.(1603-1605)ctG>ctA	p.L535L	RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_Silent_p.L535L|ZNF503-AS2_ENST00000466942.2_RNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	535					G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					AGTGGCTCAGCAGCTCTTCGG	0.652																																						uc001jxg.2		NaN																	0				ovary(1)	1						c.(1603-1605)CTG>CTA		zinc finger protein 503							32.0	28.0	30.0					10																	77158843		2202	4299	6501	SO:0001819	synonymous_variant	84858				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr10:77158843C>T	AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"""Zinc fingers, C2H2-type"""	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.1605G>A	10.37:g.77158843C>T						C10orf41_uc010qlf.1_5'Flank	p.L535L	NM_032772	NP_116161	Q96F45	ZN503_HUMAN			2	1941	-	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)		535			C2H2-type.		Q8NAC5|Q96E25|Q96IJ0	Silent	SNP	ENST00000372524.4	37	c.1605G>A	CCDS7350.1																																																																																				0.652	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1		NM_032772		17	53	0	0	0	1	0	17	53		
MMRN2	79812	broad.mit.edu	37	10	88704122	88704122	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:88704122G>A	ENST00000372027.5	-	5	873	c.552C>T	c.(550-552)ctC>ctT	p.L184L	MMRN2_ENST00000488950.1_Intron	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	184					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CATCATTCTGGAGATCTCCCA	0.532																																						uc001kea.2		NaN																	0				large_intestine(1)	1						c.(550-552)CTC>CTT		multimerin 2 precursor							121.0	112.0	115.0					10																	88704122		2203	4300	6503	SO:0001819	synonymous_variant	79812					extracellular space		g.chr10:88704122G>A	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.552C>T	10.37:g.88704122G>A						MMRN2_uc010qmn.1_Intron|MMRN2_uc009xtb.2_Silent_p.L141L	p.L184L	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN			5	679	-			184			Potential.		Q504V7|Q6P2N2	Silent	SNP	ENST00000372027.5	37	c.552C>T	CCDS7379.1																																																																																				0.532	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2		NM_024756		52	136	0	0	0	1	0	52	136		
GLUD1	2746	broad.mit.edu	37	10	88822464	88822464	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:88822464C>T	ENST00000277865.4	-	6	966	c.870G>A	c.(868-870)atG>atA	p.M290I	GLUD1_ENST00000537649.1_Missense_Mutation_p.M123I|GLUD1_ENST00000465164.1_5'Flank|GLUD1_ENST00000544149.1_Missense_Mutation_p.M157I	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	290					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	CTAAAATGCTCATGTAAGAAG	0.388																																						uc001keh.2		NaN																	0					0						c.(868-870)ATG>ATA		glutamate dehydrogenase 1 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						60.0	55.0	57.0					10																	88822464		2203	4300	6503	SO:0001583	missense	2746				glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding	g.chr10:88822464C>T	M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.870G>A	10.37:g.88822464C>T	ENSP00000277865:p.Met290Ile					GLUD1_uc001keg.2_Missense_Mutation_p.M123I|GLUD1_uc010qmp.1_Missense_Mutation_p.M157I	p.M290I	NM_005271	NP_005262	P00367	DHE3_HUMAN			6	967	-			290					B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	ENST00000277865.4	37	c.870G>A	CCDS7382.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986462	0.93044	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000513510;ENST00000544149	D;D;D	0.94966	-3.57;-3.57;-3.57	5.42	5.42	0.78866	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (2);NAD(P)-binding domain (1);	0.036958	0.85682	D	0.000000	D	0.95598	0.8569	M	0.82517	2.595	0.80722	D	1	P;P	0.37636	0.469;0.603	B;B	0.41666	0.209;0.363	D	0.95735	0.8778	10	0.66056	D	0.02	-13.3146	19.6437	0.95767	0.0:1.0:0.0:0.0	.	157;290	B4DGN5;P00367	.;DHE3_HUMAN	I	290;247;123;222;157	ENSP00000277865:M290I;ENSP00000439291:M123I;ENSP00000444732:M157I	ENSP00000277865:M290I	M	-	3	0	GLUD1	88812444	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.813000	0.86123	2.716000	0.92895	0.650000	0.86243	ATG		0.388	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1		NM_005271		13	27	0	0	0	1	0	13	27		
GLUD1	2746	broad.mit.edu	37	10	88822583	88822583	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:88822583C>T	ENST00000277865.4	-	6	847	c.751G>A	c.(751-753)Gca>Aca	p.A251T	GLUD1_ENST00000537649.1_Missense_Mutation_p.A84T|GLUD1_ENST00000465164.1_5'Flank|GLUD1_ENST00000544149.1_Missense_Mutation_p.A118T	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	251					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	CAGGCGTGTGCATTAATATCC	0.418																																						uc001keh.2		NaN																	0					0						c.(751-753)GCA>ACA		glutamate dehydrogenase 1 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						60.0	53.0	55.0					10																	88822583		2203	4300	6503	SO:0001583	missense	2746				glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding	g.chr10:88822583C>T	M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.751G>A	10.37:g.88822583C>T	ENSP00000277865:p.Ala251Thr					GLUD1_uc001keg.2_Missense_Mutation_p.A84T|GLUD1_uc010qmp.1_Missense_Mutation_p.A118T	p.A251T	NM_005271	NP_005262	P00367	DHE3_HUMAN			6	848	-			251					B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	ENST00000277865.4	37	c.751G>A	CCDS7382.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.587039	0.86851	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000513510;ENST00000544149	D;D;D	0.96856	-4.15;-4.07;-4.08	5.3	5.3	0.74995	.	0.049224	0.85682	N	0.000000	D	0.95733	0.8612	M	0.74258	2.255	0.80722	D	1	B;P	0.35456	0.133;0.502	B;B	0.33846	0.112;0.171	D	0.95472	0.8552	10	0.54805	T	0.06	-8.482	19.3592	0.94428	0.0:1.0:0.0:0.0	.	118;251	B4DGN5;P00367	.;DHE3_HUMAN	T	251;208;84;183;118	ENSP00000277865:A251T;ENSP00000439291:A84T;ENSP00000444732:A118T	ENSP00000277865:A251T	A	-	1	0	GLUD1	88812563	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.813000	0.86123	2.647000	0.89833	0.558000	0.71614	GCA		0.418	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1		NM_005271		7	25	0	0	0	1	0	7	25		
PTEN	5728	broad.mit.edu	37	10	89725197	89725197	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:89725197G>A	ENST00000371953.3	+	9	2537	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	394					activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACCTTTTGATGAAGATCAGCA	0.328		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		47	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(1)	p.R55fs*1(4)|p.Y27fs*1(2)|p.N212fs*1(2)|p.G165_*404del(1)	prostate(16)|central_nervous_system(10)|skin(5)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(1180-1182)GAA>AAA		phosphatase and tensin homolog							17.0	17.0	17.0					10																	89725197		2176	4275	6451	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89725197G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1180G>A	10.37:g.89725197G>A	ENSP00000361021:p.Glu394Lys	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.E394K	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	10	2211	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	394					B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.1180G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001345	0.54254	.	.	ENSG00000171862	ENST00000371953	D	0.95035	-3.59	5.26	5.26	0.73747	.	0.043563	0.85682	D	0.000000	D	0.87095	0.6092	N	0.08118	0	0.80722	D	1	B	0.31318	0.319	B	0.24701	0.055	D	0.84776	0.0770	9	.	.	.	-11.1156	19.2151	0.93774	0.0:0.0:1.0:0.0	.	394	P60484	PTEN_HUMAN	K	394	ENSP00000361021:E394K	.	E	+	1	0	PTEN	89715177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.429000	0.97481	2.609000	0.88269	0.591000	0.81541	GAA		0.328	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1		NM_000314		10	19	0	0	0	1	0	10	19		
KIF20B	9585	broad.mit.edu	37	10	91528126	91528126	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:91528126C>T	ENST00000371728.3	+	30	5134	c.5069C>T	c.(5068-5070)tCt>tTt	p.S1690F	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.S1650F|KIF20B_ENST00000416354.1_Missense_Mutation_p.S1720F	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1690	Interaction with PIN1.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GATAGAAATTCTTCTGTCAAA	0.294																																						uc001kgs.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(5068-5070)TCT>TTT		M-phase phosphoprotein 1							53.0	60.0	57.0					10																	91528126		2202	4288	6490	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91528126C>T	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.5069C>T	10.37:g.91528126C>T	ENSP00000360793:p.Ser1690Phe					KIF20B_uc001kgr.1_Missense_Mutation_p.S1650F|KIF20B_uc001kgt.1_Missense_Mutation_p.S901F|KIF20B_uc009xtw.1_RNA	p.S1690F	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN			30	5141	+			1690			Interaction with PIN1.		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.5069C>T		.	.	.	.	.	.	.	.	.	.	C	18.99	3.739068	0.69304	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000371728	T;T;T	0.50001	0.76;0.76;0.76	4.86	4.86	0.63082	.	0.260386	0.28026	N	0.016893	T	0.64461	0.2600	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.75484	0.986;0.982	T	0.66551	-0.5895	10	0.72032	D	0.01	-9.8746	16.3084	0.82859	0.0:1.0:0.0:0.0	.	1690;1650	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	F	1650;1720;1690	ENSP00000260753:S1650F;ENSP00000411545:S1720F;ENSP00000360793:S1690F	ENSP00000260753:S1650F	S	+	2	0	KIF20B	91518106	0.259000	0.24043	0.998000	0.56505	0.905000	0.53344	1.339000	0.33885	2.622000	0.88805	0.561000	0.74099	TCT		0.294	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1		NM_016195		15	30	0	0	0	1	0	15	30		
CC2D2B	387707	broad.mit.edu	37	10	97769626	97769626	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:97769626G>C	ENST00000344386.3	+	3	230	c.66G>C	c.(64-66)aaG>aaC	p.K22N	RP11-690P14.4_ENST00000475252.2_3'UTR|ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000371198.2_Missense_Mutation_p.K113N|CC2D2B_ENST00000410012.2_Missense_Mutation_p.K22N|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	22										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		ATATAAGAAAGAATTGGCTTG	0.338																																						uc001kll.2		NaN																	0				ovary(1)	1						c.(64-66)AAG>AAC		coiled-coil and C2 domain containing 2B isoform							150.0	140.0	143.0					10																	97769626		1853	4080	5933	SO:0001583	missense	387707							g.chr10:97769626G>C	BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 130"""	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.66G>C	10.37:g.97769626G>C	ENSP00000343747:p.Lys22Asn					uc001klg.1_Intron|uc001klj.1_Intron|CC2D2B_uc001klk.2_RNA|CC2D2B_uc010qop.1_Missense_Mutation_p.K22N	p.K22N	NM_001001732	NP_001001732	Q6DHV5	C2D2B_HUMAN		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)	3	265	+		Colorectal(252;0.158)	22					A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Missense_Mutation	SNP	ENST00000344386.3	37	c.66G>C	CCDS41555.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185827	0.57909	.	.	ENSG00000188649	ENST00000371198;ENST00000424464;ENST00000451649;ENST00000410012;ENST00000344386	T;D;D;T	0.94862	-0.44;-3.54;-1.87;-1.24	5.59	3.72	0.42706	.	.	.	.	.	D	0.95156	0.8430	L	0.47716	1.5	0.24058	N	0.996026	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.929	D	0.87984	0.2745	9	0.27082	T	0.32	.	10.131	0.42678	0.1613:0.0:0.8387:0.0	.	22;22	E9PCC3;Q6DHV5	.;C2D2B_HUMAN	N	113;22;22;22;22	ENSP00000360241:K113N;ENSP00000391834:K22N;ENSP00000386988:K22N;ENSP00000343747:K22N	ENSP00000343747:K22N	K	+	3	2	CC2D2B	97759616	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.239000	0.43079	1.391000	0.46566	0.644000	0.83932	AAG		0.338	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3		NM_001001732		11	36	0	0	0	1	0	11	36		
DNTT	1791	broad.mit.edu	37	10	98087257	98087257	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:98087257G>A	ENST00000371174.2	+	7	1009	c.907G>A	c.(907-909)Gtg>Atg	p.V303M	DNTT_ENST00000419175.1_Missense_Mutation_p.V303M			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	303	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TGTCAGCTGTGTGACCAGGGC	0.517																																						uc001kmf.2		NaN																	0				ovary(1)	1						c.(907-909)GTG>ATG		terminal deoxynucleotidyltransferase isoform 1							245.0	230.0	235.0					10																	98087257		2203	4300	6503	SO:0001583	missense	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98087257G>A	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.907G>A	10.37:g.98087257G>A	ENSP00000360216:p.Val303Met					DNTT_uc001kmg.2_Missense_Mutation_p.V303M	p.V303M	NM_004088	NP_004079	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	7	1077	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	303			Mediates interaction with DNTTIP2.		Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	c.907G>A	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597063	0.87055	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.48836	0.8;0.8	5.56	5.56	0.83823	DNA-directed DNA polymerase X (1);	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	L	0.52266	1.64	0.51482	D	0.999928	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.59600	-0.7424	10	0.37606	T	0.19	-10.2047	17.0337	0.86468	0.0:0.0:1.0:0.0	.	303;303	P04053-2;P04053	.;TDT_HUMAN	M	303	ENSP00000401169:V303M;ENSP00000360216:V303M	ENSP00000360216:V303M	V	+	1	0	DNTT	98077247	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.099000	0.89542	2.609000	0.88269	0.655000	0.94253	GTG		0.517	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1		NM_004088		73	188	0	0	0	1	0	73	188		
TLL2	7093	broad.mit.edu	37	10	98145844	98145844	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:98145844G>A	ENST00000357947.3	-	15	2206	c.1981C>T	c.(1981-1983)Cag>Tag	p.Q661*		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	661	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		ACTTCAAACTGAAGGGAGATC	0.522																																						uc001kml.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1981-1983)CAG>TAG		tolloid-like 2 precursor							98.0	92.0	94.0					10																	98145844		2203	4300	6503	SO:0001587	stop_gained	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98145844G>A	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1981C>T	10.37:g.98145844G>A	ENSP00000350630:p.Gln661*						p.Q661*	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	15	2207	-		Colorectal(252;0.0846)	661			CUB 3.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Nonsense_Mutation	SNP	ENST00000357947.3	37	c.1981C>T	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	G	41	8.867943	0.98984	.	.	ENSG00000095587	ENST00000357947	.	.	.	4.77	4.77	0.60923	.	0.000000	0.43416	D	0.000567	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	17.3218	0.87238	0.0:0.0:1.0:0.0	.	.	.	.	X	661	.	ENSP00000350630:Q661X	Q	-	1	0	TLL2	98135834	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.354000	0.66040	2.651000	0.90000	0.585000	0.79938	CAG		0.522	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1				23	73	0	0	0	1	0	23	73		
C10orf12	26148	broad.mit.edu	37	10	98744637	98744637	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:98744637G>C	ENST00000286067.2	+	1	3597	c.3490G>C	c.(3490-3492)Gaa>Caa	p.E1164Q		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	1164										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CTCCAGGAAAGAAAAAGAGAA	0.493																																						uc001kmv.2		NaN																	0				skin(2)	2						c.(3490-3492)GAA>CAA		hypothetical protein LOC26148							47.0	56.0	53.0					10																	98744637		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98744637G>C	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.3490G>C	10.37:g.98744637G>C	ENSP00000286067:p.Glu1164Gln						p.E1164Q	NM_015652	NP_056467	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	3597	+		Colorectal(252;0.172)	1164					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.3490G>C	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399460	0.25291	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.08102	3.13	5.58	4.68	0.58851	.	0.293524	0.23736	U	0.045067	T	0.06371	0.0164	L	0.29908	0.895	0.34455	D	0.701126	P	0.45474	0.859	B	0.37304	0.246	T	0.37820	-0.9689	10	0.36615	T	0.2	-13.1894	10.6384	0.45579	0.1462:0.0:0.8538:0.0	.	1164	Q8N655	CJ012_HUMAN	Q	1164;988	ENSP00000286067:E1164Q	ENSP00000286067:E1164Q	E	+	1	0	C10orf12	98734627	1.000000	0.71417	1.000000	0.80357	0.473000	0.32948	3.118000	0.50414	1.382000	0.46385	-0.258000	0.10820	GAA		0.493	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1		NM_015652		23	58	0	0	0	1	0	23	58		
RRP12	23223	broad.mit.edu	37	10	99123623	99123623	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:99123623C>T	ENST00000370992.4	-	30	3666	c.3555G>A	c.(3553-3555)gtG>gtA	p.V1185V	RRP12_ENST00000536831.1_Silent_p.V903V|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Silent_p.V1124V|RRP12_ENST00000315563.6_Silent_p.V1085V	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1185						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCCTGATGATCACATCTTCCA	0.542																																						uc001knf.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(3553-3555)GTG>GTA		ribosomal RNA processing 12 homolog isoform 1							223.0	188.0	200.0					10																	99123623		2203	4300	6503	SO:0001819	synonymous_variant	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99123623C>T		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3555G>A	10.37:g.99123623C>T						RRP12_uc001kne.2_Silent_p.V200V|RRP12_uc009xvl.2_Silent_p.V302V|RRP12_uc009xvm.2_Silent_p.V903V|RRP12_uc010qou.1_Silent_p.V1124V|RRP12_uc009xvn.2_Silent_p.V1085V	p.V1185V	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	30	3694	-		Colorectal(252;0.162)	1185					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	ENST00000370992.4	37	c.3555G>A	CCDS7457.1																																																																																				0.542	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4		NM_015179		44	173	0	0	0	1	0	44	173		
R3HCC1L	27291	broad.mit.edu	37	10	99994257	99994257	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:99994257C>G	ENST00000298999.3	+	7	2319	c.2016C>G	c.(2014-2016)ttC>ttG	p.F672L	R3HCC1L_ENST00000314594.5_Missense_Mutation_p.F88L|R3HCC1L_ENST00000370586.2_Missense_Mutation_p.F78L|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.F672L	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	686							nucleotide binding (GO:0000166)										TAGGAGTATTCTCCAGTCCAA	0.323																																						uc001kow.3		NaN																	0				large_intestine(1)|skin(1)	2						c.(2014-2016)TTC>TTG		growth inhibition and differentiation related							139.0	143.0	142.0					10																	99994257		2203	4300	6503	SO:0001583	missense	27291						nucleotide binding	g.chr10:99994257C>G	AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.2016C>G	10.37:g.99994257C>G	ENSP00000298999:p.Phe672Leu					C10orf28_uc001kox.3_Missense_Mutation_p.F686L|C10orf28_uc001koy.3_Missense_Mutation_p.F672L|C10orf28_uc009xvx.2_Missense_Mutation_p.F672L|C10orf28_uc009xvy.2_Missense_Mutation_p.F78L|C10orf28_uc001koz.3_RNA	p.F672L	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)	6	2311	+		Colorectal(252;0.234)	672					O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP	ENST00000298999.3	37	c.2016C>G	CCDS31267.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926707	0.52759	.	.	ENSG00000166024	ENST00000370584;ENST00000298999;ENST00000370586;ENST00000314594;ENST00000544834	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.93	4.99	0.66335	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.71829	0.3386	M	0.74881	2.28	0.58432	D	0.999996	D;P;D	0.89917	0.996;0.886;1.0	D;P;D	0.91635	0.98;0.569;0.999	T	0.72760	-0.4196	9	.	.	.	-8.3766	7.6854	0.28538	0.0:0.7417:0.0:0.2583	.	78;686;672	Q7Z5L2-3;Q7Z5L2;Q7Z5L2-2	.;GIDRP_HUMAN;.	L	672;672;78;88;79	ENSP00000359616:F672L;ENSP00000298999:F672L;ENSP00000359618:F78L;ENSP00000314018:F88L	.	F	+	3	2	C10orf28	99984247	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.785000	0.47782	1.411000	0.46957	-0.355000	0.07637	TTC		0.323	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1		NM_014472		15	44	0	0	0	1	0	15	44		
DNMBP	23268	broad.mit.edu	37	10	101639649	101639649	+	Silent	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:101639649G>T	ENST00000324109.4	-	16	4558	c.4467C>A	c.(4465-4467)ctC>ctA	p.L1489L	DNMBP_ENST00000540316.1_Silent_p.L425L|DNMBP_ENST00000342239.3_Silent_p.L1513L|DNMBP_ENST00000543621.1_Silent_p.L735L	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1489					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ATCCTTTGACGAGGTCTTGAC	0.547																																						uc001kqj.2		NaN																	0				ovary(5)|skin(1)	6						c.(4465-4467)CTC>CTA		dynamin binding protein							161.0	141.0	148.0					10																	101639649		2203	4300	6503	SO:0001819	synonymous_variant	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101639649G>T	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.4467C>A	10.37:g.101639649G>T						DNMBP_uc010qpl.1_Silent_p.L425L|DNMBP_uc001kqg.2_Silent_p.L777L|DNMBP_uc001kqh.2_Silent_p.L1121L	p.L1489L	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	16	4559	-		Colorectal(252;0.234)	1489					Q8IVY3|Q9Y2L3	Silent	SNP	ENST00000324109.4	37	c.4467C>A	CCDS7485.1																																																																																				0.547	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2		NM_015221		32	101	1	0	1.08312e-15	1	1.14393e-15	32	101		
FBXW4	6468	broad.mit.edu	37	10	103372196	103372196	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:103372196G>A	ENST00000331272.7	-	7	1493	c.875C>T	c.(874-876)cCa>cTa	p.P292L	FBXW4_ENST00000470093.1_5'UTR	NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	292					cartilage development (GO:0051216)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|positive regulation of mesenchymal cell proliferation (GO:0002053)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	ubiquitin ligase complex (GO:0000151)				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		CCCAGCCCCTGGGGGAAAGTC	0.582																																						uc001kto.2		NaN																	0				skin(1)	1						c.(874-876)CCA>CTA		F-box and WD repeat domain containing 4							159.0	139.0	146.0					10																	103372196		2203	4300	6503	SO:0001583	missense	6468				ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex		g.chr10:103372196G>A	AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	10847	protein-coding gene	gene with protein product		608071	"""split hand/foot malformation (ectrodactyly) type 3"", ""F-box and WD-40 domain protein 4"""	SHFM3		8723077, 7912888	Standard	XM_005270053		Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.875C>T	10.37:g.103372196G>A	ENSP00000359149:p.Pro292Leu						p.P292L	NM_022039	NP_071322	P57775	FBXW4_HUMAN		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)	7	1221	-		Colorectal(252;0.123)	292			WD 3.		Q5SVS1|Q96IM6	Missense_Mutation	SNP	ENST00000331272.7	37	c.875C>T	CCDS31271.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980095	0.34942	.	.	ENSG00000107829	ENST00000331272;ENST00000389046	T	0.17370	2.28	4.45	3.5	0.40072	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.129511	0.50627	D	0.000117	T	0.04092	0.0114	N	0.01352	-0.895	0.45747	D	0.998643	B	0.29716	0.255	B	0.21360	0.034	T	0.38243	-0.9670	10	0.08599	T	0.76	-6.3347	7.9328	0.29912	0.0:0.4135:0.4523:0.1342	.	292	P57775	FBXW4_HUMAN	L	292	ENSP00000359149:P292L	ENSP00000359149:P292L	P	-	2	0	FBXW4	103362186	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.325000	0.52030	2.291000	0.77112	0.313000	0.20887	CCA		0.582	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049979.2		NM_022039		33	127	0	0	0	1	0	33	127		
C10orf76	79591	broad.mit.edu	37	10	103607320	103607320	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:103607320C>A	ENST00000370033.4	-	26	2154	c.2035G>T	c.(2035-2037)Gaa>Taa	p.E679*	C10orf76_ENST00000495001.1_5'UTR	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	679						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AGCAGGACTTCTTGGCTGAGT	0.592																																						uc009xwy.1		NaN																	0					0						c.(2035-2037)GAA>TAA		hypothetical protein LOC79591							114.0	123.0	120.0					10																	103607320		1998	4171	6169	SO:0001587	stop_gained	79591					integral to membrane		g.chr10:103607320C>A	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.2035G>T	10.37:g.103607320C>A	ENSP00000359050:p.Glu679*					C10orf76_uc009xwx.1_RNA	p.E679*	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	26	2137	-		Colorectal(252;0.123)	679					Q2TB87|Q9H8Z9	Nonsense_Mutation	SNP	ENST00000370033.4	37	c.2035G>T	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	C	39	7.500096	0.98322	.	.	ENSG00000120029	ENST00000370033	.	.	.	5.88	5.88	0.94601	.	0.093695	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-10.8604	19.8509	0.96740	0.0:1.0:0.0:0.0	.	.	.	.	X	679	.	ENSP00000359050:E679X	E	-	1	0	C10orf76	103597310	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.313000	0.78978	2.797000	0.96272	0.561000	0.74099	GAA		0.592	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1		NM_024541		25	83	1	0	1.06801e-11	1	1.11821e-11	25	83		
INA	9118	broad.mit.edu	37	10	105037875	105037875	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:105037875G>A	ENST00000369849.4	+	1	956	c.907G>A	c.(907-909)Gag>Aag	p.E303K		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	303	Coil 2.|Rod.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GCGCAGCACCGAGGCCATCCG	0.657																																						uc001kws.2		NaN																	0				ovary(1)|breast(1)	2						c.(907-909)GAG>AAG		internexin neuronal intermediate filament							30.0	28.0	29.0					10																	105037875		2200	4299	6499	SO:0001583	missense	9118				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	g.chr10:105037875G>A	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"""Intermediate filaments type IV"""	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.907G>A	10.37:g.105037875G>A	ENSP00000358865:p.Glu303Lys					uc001kwr.2_5'Flank|INA_uc009xxj.2_Missense_Mutation_p.E303K	p.E303K	NM_032727	NP_116116	Q16352	AINX_HUMAN		Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	1	956	+			303			Coil 2.|Rod.		B1AQK0|Q9BRC5	Missense_Mutation	SNP	ENST00000369849.4	37	c.907G>A	CCDS7545.1	.	.	.	.	.	.	.	.	.	.	G	35	5.482378	0.96307	.	.	ENSG00000148798	ENST00000369849	D	0.95656	-3.77	4.41	4.41	0.53225	Filament (1);	0.051002	0.85682	D	0.000000	D	0.96731	0.8933	M	0.81614	2.55	0.58432	D	0.999999	P;P	0.52577	0.891;0.954	P;P	0.52909	0.713;0.713	D	0.97517	1.0070	10	0.87932	D	0	.	17.1579	0.86796	0.0:0.0:1.0:0.0	.	136;303	Q59EM6;Q16352	.;AINX_HUMAN	K	303	ENSP00000358865:E303K	ENSP00000358865:E303K	E	+	1	0	INA	105027865	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.760000	0.85248	2.439000	0.82584	0.462000	0.41574	GAG		0.657	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1		NM_032727		17	48	0	0	0	1	0	17	48		
SLK	9748	broad.mit.edu	37	10	105762646	105762646	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:105762646G>C	ENST00000369755.3	+	9	2255	c.1710G>C	c.(1708-1710)caG>caC	p.Q570H	SLK_ENST00000335753.4_Missense_Mutation_p.Q570H	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	570	Glu-rich.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGGATACGCAGAGTAATGATG	0.443																																					NSCLC(111;540 1651 1927 4474 17706)	uc001kxo.1		NaN																	0				ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8						c.(1708-1710)CAG>CAC		serine/threonine kinase 2							73.0	74.0	74.0					10																	105762646		2203	4300	6503	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105762646G>C		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1710G>C	10.37:g.105762646G>C	ENSP00000358770:p.Gln570His					SLK_uc001kxp.1_Missense_Mutation_p.Q570H	p.Q570H	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	9	1744	+		Colorectal(252;0.178)	570			Glu-rich.		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.1710G>C	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911121	0.33721	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.71341	-0.56;-0.56	6.03	3.14	0.36123	Protein kinase-like domain (1);	1.022510	0.07723	N	0.944014	T	0.57666	0.2069	L	0.32530	0.975	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.12156	0.007;0.003	T	0.49447	-0.8939	10	0.52906	T	0.07	.	3.4732	0.07575	0.129:0.1596:0.507:0.2044	.	570;570	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	H	570	ENSP00000336824:Q570H;ENSP00000358770:Q570H	ENSP00000336824:Q570H	Q	+	3	2	SLK	105752636	0.000000	0.05858	0.151000	0.22473	0.821000	0.46438	0.407000	0.21049	0.867000	0.35654	0.555000	0.69702	CAG		0.443	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1		NM_014720		11	48	0	0	0	1	0	11	48		
CFAP43	80217	broad.mit.edu	37	10	105948061	105948061	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:105948061C>T	ENST00000278064.2	-	13	1772	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	WDR96_ENST00000428666.1_Missense_Mutation_p.E553K|WDR96_ENST00000357060.3_Missense_Mutation_p.E552K																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTGAACATCTCCAACCTGCTT	0.438																																						uc001kxw.2		NaN																	0					0						c.(1654-1656)GAG>AAG		hypothetical protein LOC80217							182.0	146.0	158.0					10																	105948061		2203	4300	6503	SO:0001583	missense	80217							g.chr10:105948061C>T																												ENST00000278064.2:c.1447G>A	10.37:g.105948061C>T	ENSP00000278064:p.Glu483Lys					C10orf79_uc009xxq.2_5'Flank|C10orf79_uc001kxx.3_Missense_Mutation_p.E553K	p.E552K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	13	1770	-		Colorectal(252;0.178)	552						Missense_Mutation	SNP	ENST00000278064.2	37	c.1654G>A		.	.	.	.	.	.	.	.	.	.	C	15.37	2.813657	0.50527	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064	T;T;T	0.17213	2.37;2.36;2.29	5.94	5.94	0.96194	WD40 repeat-like-containing domain (1);	0.144833	0.32244	N	0.006372	T	0.23926	0.0579	M	0.74881	2.28	0.33736	D	0.618883	P;B	0.46277	0.875;0.298	B;B	0.40825	0.341;0.11	T	0.37220	-0.9715	10	0.30078	T	0.28	.	15.8592	0.79009	0.0:1.0:0.0:0.0	.	553;552	B4DHB6;Q8NDM7	.;WDR96_HUMAN	K	552;553;483	ENSP00000349568:E552K;ENSP00000400289:E553K;ENSP00000278064:E483K	ENSP00000278064:E483K	E	-	1	0	WDR96	105938051	0.999000	0.42202	0.977000	0.42913	0.095000	0.18619	2.445000	0.44899	2.816000	0.96949	0.561000	0.74099	GAG		0.438	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1				18	48	0	0	0	1	0	18	48		
SORCS1	114815	broad.mit.edu	37	10	108378015	108378015	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:108378015C>T	ENST00000263054.6	-	21	2819	c.2812G>A	c.(2812-2814)Gag>Aag	p.E938K	SORCS1_ENST00000369698.1_Missense_Mutation_p.E473K|SORCS1_ENST00000344440.6_Missense_Mutation_p.E938K|SORCS1_ENST00000478809.2_5'UTR	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	938					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ATGCTTCCCTCCAAGGTGATC	0.463																																						uc001kym.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(2812-2814)GAG>AAG		SORCS receptor 1 isoform a							129.0	105.0	113.0					10																	108378015		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108378015C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2812G>A	10.37:g.108378015C>T	ENSP00000263054:p.Glu938Lys					SORCS1_uc001kyl.2_Missense_Mutation_p.E938K|SORCS1_uc009xxs.2_Missense_Mutation_p.E938K|SORCS1_uc001kyn.1_Missense_Mutation_p.E938K|SORCS1_uc001kyo.2_Missense_Mutation_p.E938K	p.E938K	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	21	2820	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	938			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2812G>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917251	0.73098	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.47177	0.85;0.85;0.85	5.35	5.35	0.76521	PKD/Chitinase domain (1);PKD domain (1);	0.058526	0.64402	D	0.000002	T	0.41328	0.1154	L	0.43152	1.355	0.54753	D	0.999984	B;B;P;B;P	0.36789	0.25;0.365;0.57;0.435;0.57	B;B;B;B;B	0.32211	0.067;0.142;0.142;0.067;0.142	T	0.25257	-1.0137	9	.	.	.	-27.964	19.0658	0.93110	0.0:1.0:0.0:0.0	.	938;938;938;938;938	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	K	473;938;938	ENSP00000358712:E473K;ENSP00000263054:E938K;ENSP00000345964:E938K	.	E	-	1	0	SORCS1	108368005	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.626000	0.61269	2.495000	0.84180	0.555000	0.69702	GAG		0.463	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4		NM_052918		15	51	0	0	0	1	0	15	51		
SMC3	9126	broad.mit.edu	37	10	112361525	112361525	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:112361525G>A	ENST00000361804.4	+	24	2901	c.2775G>A	c.(2773-2775)atG>atA	p.M925I		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	925					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TGGAAAAGATGACAAATCGGC	0.378																																						uc001kze.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2773-2775)ATG>ATA		structural maintenance of chromosomes 3							107.0	114.0	112.0					10																	112361525		2203	4300	6503	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112361525G>A	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.2775G>A	10.37:g.112361525G>A	ENSP00000354720:p.Met925Ile						p.M925I	NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	24	2901	+		Breast(234;0.0848)|Lung NSC(174;0.238)	925					A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.2775G>A	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.050891	0.36181	.	.	ENSG00000108055	ENST00000361804	T	0.74315	-0.83	5.41	5.41	0.78517	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.55545	0.1927	N	0.03238	-0.38	0.80722	D	1	B	0.15719	0.014	B	0.20577	0.03	T	0.51364	-0.8715	10	0.20046	T	0.44	.	19.5597	0.95367	0.0:0.0:1.0:0.0	.	925	Q9UQE7	SMC3_HUMAN	I	925	ENSP00000354720:M925I	ENSP00000354720:M925I	M	+	3	0	SMC3	112351515	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.302000	0.96175	2.704000	0.92352	0.585000	0.79938	ATG		0.378	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1		NM_005445		24	60	0	0	0	1	0	24	60		
PNLIPRP1	5407	broad.mit.edu	37	10	118354358	118354358	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:118354358G>C	ENST00000528052.1	+	5	518	c.447G>C	c.(445-447)caG>caC	p.Q149H	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.Q149H|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.Q149H			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	149					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AGGTGGCCCAGATGCTCGACA	0.587																																						uc001lco.1		NaN																	0				ovary(1)|breast(1)	2						c.(445-447)CAG>CAC		pancreatic lipase-related protein 1 precursor							78.0	65.0	69.0					10																	118354358		2203	4300	6503	SO:0001583	missense	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118354358G>C	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.447G>C	10.37:g.118354358G>C	ENSP00000433933:p.Gln149His					PNLIPRP1_uc001lcp.2_Missense_Mutation_p.Q149H|PNLIPRP1_uc009xys.1_RNA	p.Q149H	NM_006229	NP_006220	P54315	LIPR1_HUMAN		all cancers(201;0.0161)	5	465	+			149					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	c.447G>C	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852802	0.32699	.	.	ENSG00000187021	ENST00000531984;ENST00000358834;ENST00000528052;ENST00000534537	D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85	5.31	4.29	0.51040	Lipase, N-terminal (1);	0.450310	0.22955	N	0.053619	T	0.79493	0.4455	N	0.05487	-0.04	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.74349	-0.3694	10	0.37606	T	0.19	-7.4723	10.6387	0.45579	0.0:0.0:0.6407:0.3592	.	149	P54315	LIPR1_HUMAN	H	149	ENSP00000436123:Q149H;ENSP00000351695:Q149H;ENSP00000433933:Q149H;ENSP00000434159:Q149H	ENSP00000351695:Q149H	Q	+	3	2	PNLIPRP1	118344348	0.875000	0.30112	0.852000	0.33557	0.870000	0.49936	1.133000	0.31430	2.650000	0.89964	0.655000	0.94253	CAG		0.587	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1		NM_006229		11	49	0	0	0	1	0	11	49		
KIAA1598	57698	broad.mit.edu	37	10	118704476	118704476	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:118704476C>T	ENST00000355371.4	-	8	1167	c.670G>A	c.(670-672)Gag>Aag	p.E224K	KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392901.4_Missense_Mutation_p.E164K|KIAA1598_ENST00000392903.2_Missense_Mutation_p.E224K|KIAA1598_ENST00000260777.10_Missense_Mutation_p.E224K	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	224					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		AGGTCCTTCTCCAGCTCCAGG	0.393																																						uc009xyw.2		NaN																	0					0						c.(670-672)GAG>AAG		shootin1 isoform a							182.0	172.0	175.0					10																	118704476		2203	4300	6503	SO:0001583	missense	57698				axon guidance	axon		g.chr10:118704476C>T	BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.670G>A	10.37:g.118704476C>T	ENSP00000347532:p.Glu224Lys					KIAA1598_uc001lcz.3_Missense_Mutation_p.E224K|KIAA1598_uc010qso.1_Missense_Mutation_p.E164K|KIAA1598_uc010qsp.1_Missense_Mutation_p.E224K|KIAA1598_uc010qsq.1_Missense_Mutation_p.E164K|KIAA1598_uc001lcy.3_Missense_Mutation_p.E194K	p.E224K	NM_001127211	NP_001120683	A0MZ66	SHOT1_HUMAN		all cancers(201;0.00494)	8	1168	-			224			Potential.		A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Missense_Mutation	SNP	ENST00000355371.4	37	c.670G>A	CCDS44482.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991004	0.93106	.	.	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371;ENST00000392901	T;T;T;T	0.23950	2.79;2.79;2.79;1.88	5.9	5.9	0.94986	.	0.102435	0.64402	D	0.000003	T	0.52901	0.1763	M	0.73962	2.25	0.48901	D	0.999722	D;D;D	0.76494	0.998;0.996;0.999	D;D;D	0.78314	0.991;0.987;0.973	T	0.43845	-0.9366	10	0.40728	T	0.16	-19.6397	18.4595	0.90734	0.0:1.0:0.0:0.0	.	224;224;194	A0MZ66;A0MZ66-2;A0MZ66-6	SHOT1_HUMAN;.;.	K	224;224;224;164	ENSP00000376636:E224K;ENSP00000260777:E224K;ENSP00000347532:E224K;ENSP00000376635:E164K	ENSP00000260777:E224K	E	-	1	0	KIAA1598	118694466	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.607000	0.74163	2.788000	0.95919	0.650000	0.86243	GAG		0.393	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_018330		51	199	0	0	0	1	0	51	199		
PDZD8	118987	broad.mit.edu	37	10	119044215	119044215	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:119044215G>C	ENST00000334464.5	-	5	2268	c.2029C>G	c.(2029-2031)Caa>Gaa	p.Q677E	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	677					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCCCATGTTTGACGGTCGTCC	0.433																																						uc001lde.1		NaN																	0					0						c.(2029-2031)CAA>GAA		PDZ domain containing 8							97.0	95.0	95.0					10																	119044215		2203	4300	6503	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119044215G>C	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.2029C>G	10.37:g.119044215G>C	ENSP00000334642:p.Gln677Glu						p.Q677E	NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	2228	-		Colorectal(252;0.19)	677					Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.2029C>G	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	G	0.150	-1.092727	0.01858	.	.	ENSG00000165650	ENST00000334464	D	0.85258	-1.96	5.14	5.14	0.70334	.	0.492768	0.22115	N	0.064436	T	0.77928	0.4204	N	0.24115	0.695	0.09310	N	1	B	0.17038	0.02	B	0.16722	0.016	T	0.58951	-0.7545	10	0.20519	T	0.43	-6.7026	19.4994	0.95086	0.0:0.0:1.0:0.0	.	677	Q8NEN9	PDZD8_HUMAN	E	677	ENSP00000334642:Q677E	ENSP00000334642:Q677E	Q	-	1	0	PDZD8	119034205	0.731000	0.28111	0.100000	0.21137	0.613000	0.37349	3.332000	0.52083	2.779000	0.95612	0.591000	0.81541	CAA		0.433	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1		NM_173791		14	63	0	0	0	1	0	14	63		
C10orf88	80007	broad.mit.edu	37	10	124697599	124697599	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:124697599G>A	ENST00000481909.1	-	5	949	c.725C>T	c.(724-726)tCc>tTc	p.S242F	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	242										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		GGTAGATGAGGATTGTAGTCC	0.403																																						uc001lgw.2		NaN																	0					0						c.(724-726)TCC>TTC		hypothetical protein LOC80007							138.0	126.0	130.0					10																	124697599		2203	4300	6503	SO:0001583	missense	80007							g.chr10:124697599G>A	AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.725C>T	10.37:g.124697599G>A	ENSP00000419126:p.Ser242Phe					C10orf88_uc001lgx.2_Missense_Mutation_p.S144F	p.S242F	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)	5	950	-		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)	242					Q0P6C6|Q8N597	Missense_Mutation	SNP	ENST00000481909.1	37	c.725C>T	CCDS7632.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362992	0.41902	.	.	ENSG00000119965	ENST00000481909	.	.	.	3.88	0.361	0.16107	.	1.390360	0.05048	U	0.477659	T	0.36853	0.0982	M	0.70595	2.14	0.09310	N	1	P	0.49090	0.919	B	0.43445	0.42	T	0.39643	-0.9604	9	0.72032	D	0.01	.	1.0551	0.01588	0.1386:0.2802:0.2929:0.2884	.	242	Q9H8K7	CJ088_HUMAN	F	242	.	ENSP00000419126:S242F	S	-	2	0	C10orf88	124687589	0.001000	0.12720	0.002000	0.10522	0.159000	0.22180	0.481000	0.22260	0.616000	0.30141	0.585000	0.79938	TCC		0.403	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050807.1		NM_024942		32	102	0	0	0	1	0	32	102		
ZRANB1	54764	broad.mit.edu	37	10	126631753	126631753	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:126631753C>T	ENST00000359653.4	+	1	1062	c.691C>T	c.(691-693)Cag>Tag	p.Q231*	RP11-298J20.3_ENST00000449984.1_RNA|RP11-298J20.4_ENST00000508096.1_RNA	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	231					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		AATGGATTTTCAGAGGATTGA	0.433																																						uc001lic.2		NaN																	0				ovary(1)|kidney(1)	2						c.(691-693)CAG>TAG		zinc finger, RAN-binding domain containing 1							52.0	54.0	53.0					10																	126631753		2203	4300	6503	SO:0001587	stop_gained	54764				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr10:126631753C>T	AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.691C>T	10.37:g.126631753C>T	ENSP00000352676:p.Gln231*					ZRANB1_uc010qug.1_Nonsense_Mutation_p.Q257*	p.Q231*	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)	1	1062	+		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)	231					B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Nonsense_Mutation	SNP	ENST00000359653.4	37	c.691C>T	CCDS7642.1	.	.	.	.	.	.	.	.	.	.	C	39	7.892693	0.98548	.	.	ENSG00000019995	ENST00000359653	.	.	.	5.74	5.74	0.90152	.	0.209770	0.51477	D	0.000099	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-16.7341	19.9346	0.97133	0.0:1.0:0.0:0.0	.	.	.	.	X	231	.	ENSP00000352676:Q231X	Q	+	1	0	ZRANB1	126621743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.270000	0.78493	2.712000	0.92718	0.563000	0.77884	CAG		0.433	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1		NM_017580		22	54	0	0	0	1	0	22	54		
MKI67	4288	broad.mit.edu	37	10	129904353	129904353	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:129904353G>A	ENST00000368654.3	-	13	6126	c.5751C>T	c.(5749-5751)atC>atT	p.I1917I	MKI67_ENST00000368653.3_Silent_p.I1557I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1917	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CAAATGTGTTGATGTCTTTCT	0.478																																						uc001lke.2		NaN																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(5749-5751)ATC>ATT		antigen identified by monoclonal antibody Ki-67							231.0	226.0	228.0					10																	129904353		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129904353G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5751C>T	10.37:g.129904353G>A						MKI67_uc001lkf.2_Silent_p.I1557I|MKI67_uc009yav.1_Silent_p.I1492I|MKI67_uc009yaw.1_Silent_p.I1067I	p.I1917I	NM_002417	NP_002408	P46013	KI67_HUMAN			13	5946	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1917			16 X 122 AA approximate repeats.|8.		Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.5751C>T	CCDS7659.1																																																																																				0.478	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1		NM_002417		64	200	0	0	0	1	0	64	200		
GLRX3	10539	broad.mit.edu	37	10	131969878	131969878	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:131969878C>G	ENST00000368644.1	+	8	824	c.802C>G	c.(802-804)Ctg>Gtg	p.L268V	GLRX3_ENST00000331244.5_Missense_Mutation_p.L268V	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	268	Glutaredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|regulation of the force of heart contraction (GO:0002026)	extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	electron carrier activity (GO:0009055)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		CAAACAAATTCTGGAAATACT	0.343																																						uc001lkm.1		NaN																	0					0						c.(802-804)CTG>GTG		glutaredoxin 3							90.0	100.0	97.0					10																	131969878		2202	4300	6502	SO:0001583	missense	10539				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity	g.chr10:131969878C>G	AJ010841	CCDS7661.1	10q26	2009-05-29	2007-08-16	2007-08-16	ENSG00000108010	ENSG00000108010			15987	protein-coding gene	gene with protein product	"""glutaredoxin 4"""	612754	"""thioredoxin-like 2"""	TXNL2		10636891, 11124703	Standard	NM_006541		Approved	PICOT, bA500G10.4, GRX3, GLRX4, GRX4	uc001lkm.2	O76003	OTTHUMG00000019267	ENST00000368644.1:c.802C>G	10.37:g.131969878C>G	ENSP00000357633:p.Leu268Val					GLRX3_uc001lkn.1_Missense_Mutation_p.L268V|GLRX3_uc001lko.2_RNA	p.L268V	NM_006541	NP_006532	O76003	GLRX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00218)	8	824	+		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)	268			Glutaredoxin 2.		B3KMP7|B3KMQ5|D3DRG2|Q5JV01|Q96CE0|Q9P1B0|Q9P1B1	Missense_Mutation	SNP	ENST00000368644.1	37	c.802C>G	CCDS7661.1	.	.	.	.	.	.	.	.	.	.	C	0.213	-1.035187	0.02029	.	.	ENSG00000108010	ENST00000331244;ENST00000368644	T;T	0.27890	1.64;1.64	4.85	1.93	0.25924	Glutaredoxin (2);Thioredoxin-like fold (2);	0.087181	0.47093	D	0.000242	T	0.04182	0.0116	N	0.00128	-2.045	0.51012	D	0.9999	B	0.09022	0.002	B	0.15870	0.014	T	0.30297	-0.9983	10	0.02654	T	1	-1.9048	2.2553	0.04053	0.1556:0.5204:0.1511:0.1728	.	268	O76003	GLRX3_HUMAN	V	268	ENSP00000330836:L268V;ENSP00000357633:L268V	ENSP00000330836:L268V	L	+	1	2	GLRX3	131859868	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.286000	0.18902	0.194000	0.20326	0.561000	0.74099	CTG		0.343	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051021.1		NM_006541		19	68	0	0	0	1	0	19	68		
JAKMIP3	282973	broad.mit.edu	37	10	133918366	133918366	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:133918366C>T	ENST00000298622.4	+	1	192	c.54C>T	c.(52-54)ctC>ctT	p.L18L		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	18						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CAGAGGCCCTCGCGGCGCTGC	0.667																																						uc001lkx.3		NaN																	0				breast(1)	1						c.(52-54)CTC>CTT		Janus kinase and microtubule interacting protein							16.0	21.0	20.0					10																	133918366		2042	4180	6222	SO:0001819	synonymous_variant	282973							g.chr10:133918366C>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.54C>T	10.37:g.133918366C>T							p.L18L	NM_001105521	NP_001098991				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	1	54	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	c.54C>T	CCDS44494.1																																																																																				0.667	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3		NM_194303		3	6	0	0	0	1	0	3	6		
PWWP2B	170394	broad.mit.edu	37	10	134219649	134219649	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:134219649G>A	ENST00000305233.5	+	2	1704	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	PWWP2B_ENST00000368609.4_Intron	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	549	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCCTTTCTCTGAATTTTTCAA	0.488																																						uc001lll.3		NaN																	0					0						c.(1645-1647)GAA>AAA		PWWP domain containing 2 isoform 1							107.0	116.0	113.0					10																	134219649		2203	4300	6503	SO:0001583	missense	170394							g.chr10:134219649G>A	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1645G>A	10.37:g.134219649G>A	ENSP00000306324:p.Glu549Lys					PWWP2B_uc009ybe.2_Intron	p.E549K	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	1674	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	549			PWWP.		A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	c.1645G>A	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985495	0.93044	.	.	ENSG00000171813	ENST00000305233	T	0.73258	-0.73	4.28	4.28	0.50868	PWWP (2);	0.000000	0.64402	U	0.000003	T	0.80984	0.4729	L	0.58510	1.815	0.80722	D	1	D	0.59357	0.985	D	0.68483	0.958	D	0.83450	0.0048	10	0.87932	D	0	.	16.2808	0.82678	0.0:0.0:1.0:0.0	.	549	Q6NUJ5	PWP2B_HUMAN	K	549	ENSP00000306324:E549K	ENSP00000306324:E549K	E	+	1	0	PWWP2B	134069639	1.000000	0.71417	0.661000	0.29709	0.884000	0.51177	8.762000	0.91711	2.396000	0.81511	0.563000	0.77884	GAA		0.488	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3		NM_138499		32	84	0	0	0	1	0	32	84		
KNDC1	85442	broad.mit.edu	37	10	134999708	134999708	+	Missense_Mutation	SNP	G	G	A	rs200382676		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:134999708G>A	ENST00000304613.3	+	6	877	c.856G>A	c.(856-858)Gag>Aag	p.E286K	KNDC1_ENST00000368572.2_Missense_Mutation_p.E286K|KNDC1_ENST00000368571.2_Missense_Mutation_p.E221K			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	286					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCTGGATGCCGAGCGCACCCT	0.701													g|||	1	0.000199681	0.0	0.0	5008	,	,		8617	0.0		0.001	False		,,,				2504	0.0					uc001llz.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(856-858)GAG>AAG		kinase non-catalytic C-lobe domain (KIND)			LYS/GLU	0,4316		0,0,2158	7.0	10.0	9.0		856	-2.9	0.0	10		9	24,8478		0,24,4227	yes	missense	KNDC1	NM_152643.6	56	0,24,6385	AA,AG,GG		0.2823,0.0,0.1872	benign	286/1750	134999708	24,12794	2158	4251	6409	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:134999708G>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.856G>A	10.37:g.134999708G>A	ENSP00000304437:p.Glu286Lys					KNDC1_uc001lma.1_Missense_Mutation_p.E221K	p.E286K	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	6	857	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	286					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.856G>A	CCDS7674.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	0.012	-1.651440	0.00785	0.0	0.002823	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.16597	2.83;2.83;2.33	4.21	-2.91	0.05631	.	0.458731	0.19064	N	0.123683	T	0.07503	0.0189	N	0.14661	0.345	0.09310	N	1	B;B	0.14438	0.01;0.002	B;B	0.06405	0.002;0.001	T	0.16719	-1.0393	10	0.52906	T	0.07	.	5.7003	0.17879	0.3718:0.3356:0.2927:0.0	.	221;286	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	K	286;286;221	ENSP00000304437:E286K;ENSP00000357561:E286K;ENSP00000357560:E221K	ENSP00000304437:E286K	E	+	1	0	KNDC1	134849698	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.133000	0.15912	-0.610000	0.05716	-0.329000	0.08387	GAG		0.701	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3		NM_152643		5	17	0	0	0	1	0	5	17		
CDHR5	53841	broad.mit.edu	37	11	624652	624652	+	Missense_Mutation	SNP	C	C	T	rs537203327	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:624652C>T	ENST00000358353.3	-	3	488	c.166G>A	c.(166-168)Gag>Aag	p.E56K	CDHR5_ENST00000397542.2_Missense_Mutation_p.E56K|CDHR5_ENST00000349570.7_Missense_Mutation_p.E56K|CDHR5_ENST00000529337.1_5'UTR			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	56					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TCCTGGCCCTCCGGGACGTGG	0.552													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17013	0.0		0.0	False		,,,				2504	0.0					uc001lqj.2		NaN																	0					0						c.(166-168)GAG>AAG		mucin and cadherin-like isoform 1							77.0	79.0	78.0					11																	624652		2203	4300	6503	SO:0001583	missense	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:624652C>T	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.166G>A	11.37:g.624652C>T	ENSP00000351118:p.Glu56Lys					CDHR5_uc001lqk.2_Missense_Mutation_p.E56K|CDHR5_uc009ycc.2_5'UTR|CDHR5_uc009ycd.2_Missense_Mutation_p.E56K|CDHR5_uc001lql.2_Missense_Mutation_p.E56K|CDHR5_uc001lqm.2_5'UTR|CDHR5_uc009yce.1_Missense_Mutation_p.E56K|CDHR5_uc001lqn.1_Missense_Mutation_p.E56K	p.E56K	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN			2	271	-			56			Extracellular (Potential).		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	c.166G>A	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976253	0.34848	.	.	ENSG00000099834	ENST00000397542;ENST00000358353;ENST00000326366;ENST00000349570;ENST00000526077;ENST00000534311	T;T;T;T;T	0.46063	0.98;0.98;0.94;0.88;0.89	2.71	0.656	0.17844	Cadherin (1);	.	.	.	.	T	0.29684	0.0741	L	0.44542	1.39	0.09310	N	1	B;P;P;P	0.46859	0.386;0.774;0.628;0.885	B;B;B;B	0.39805	0.058;0.229;0.194;0.31	T	0.15464	-1.0436	9	0.18276	T	0.48	-3.1947	8.4269	0.32733	0.0:0.5211:0.4789:0.0	.	56;56;56;56	Q58EZ6;Q9HBB8-4;Q9HBB8-2;Q9HBB8	.;.;.;CDHR5_HUMAN	K	56	ENSP00000380676:E56K;ENSP00000351118:E56K;ENSP00000345726:E56K;ENSP00000435082:E56K;ENSP00000436295:E56K	ENSP00000326527:E56K	E	-	1	0	CDHR5	614652	0.000000	0.05858	0.005000	0.12908	0.227000	0.25037	-0.527000	0.06200	0.176000	0.19873	0.491000	0.48974	GAG		0.552	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2		NM_021924		36	127	0	0	0	1	0	36	127		
AP2A2	161	broad.mit.edu	37	11	1008107	1008107	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:1008107G>A	ENST00000448903.2	+	18	2533	c.2392G>A	c.(2392-2394)Gag>Aag	p.E798K	AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000525891.1_3'UTR|AP2A2_ENST00000332231.5_Missense_Mutation_p.E799K	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	798					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGACTTCACGGAGGCGCCAGT	0.657																																						uc001lss.2		NaN																	0					0						c.(2392-2394)GAG>AAG		adaptor-related protein complex 2, alpha 2							30.0	36.0	34.0					11																	1008107		2068	4182	6250	SO:0001583	missense	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:1008107G>A	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"""alpha-adaptin C; Huntingtin interacting protein J"", ""adaptin, alpha B"", ""clathrin-associated/assembly/adaptor protein, large, alpha 2"""	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.2392G>A	11.37:g.1008107G>A	ENSP00000413234:p.Glu798Lys						p.E798K	NM_012305	NP_036437	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	18	2573	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	798					O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	ENST00000448903.2	37	c.2392G>A	CCDS44512.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306229	0.23736	.	.	ENSG00000183020	ENST00000448903;ENST00000332231;ENST00000529125;ENST00000452310	T;T	0.46063	0.88;0.88	4.12	3.09	0.35607	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);Clathrin adaptor, alpha-adaptin, appendage, Ig-like subdomain (1);	0.135387	0.49916	D	0.000133	T	0.29588	0.0738	L	0.37561	1.115	0.58432	D	0.999996	B	0.17268	0.021	B	0.19666	0.026	T	0.07908	-1.0748	10	0.06891	T	0.86	-38.5785	13.9071	0.63843	0.0:0.1542:0.8458:0.0	.	798	O94973	AP2A2_HUMAN	K	798;799;535;538	ENSP00000413234:E798K;ENSP00000327694:E799K	ENSP00000327694:E799K	E	+	1	0	AP2A2	998107	1.000000	0.71417	0.755000	0.31263	0.613000	0.37349	4.564000	0.60830	2.244000	0.73946	0.185000	0.17295	GAG		0.657	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2		NM_012305		9	19	0	0	0	1	0	9	19		
MUC2	4583	broad.mit.edu	37	11	1088741	1088741	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:1088741G>A	ENST00000441003.2	+	26	3553	c.3526G>A	c.(3526-3528)Gag>Aag	p.E1176K	MUC2_ENST00000359061.5_Missense_Mutation_p.E1176K	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1176					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CATCTATGAGGAGGATCTGAA	0.612																																						uc001lsx.1		NaN																	0				lung(1)|breast(1)	2						c.(3526-3528)GAG>AAG		mucin 2 precursor	Pranlukast(DB01411)						61.0	68.0	66.0					11																	1088741		2069	4200	6269	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1088741G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3526G>A	11.37:g.1088741G>A	ENSP00000415183:p.Glu1176Lys						p.E1176K	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	26	3553	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1176					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.3526G>A		.	.	.	.	.	.	.	.	.	.	G	14.03	2.414765	0.42817	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.54479	0.57;0.57	3.57	3.57	0.40892	.	0.197702	0.28700	U	0.014422	T	0.73369	0.3578	M	0.88979	2.995	0.31273	N	0.691523	D	0.89917	1.0	D	0.77557	0.99	T	0.76955	-0.2767	10	0.72032	D	0.01	.	10.2586	0.43412	0.0991:0.0:0.9009:0.0	.	1176	E7EUV1	.	K	1176	ENSP00000415183:E1176K;ENSP00000351956:E1176K	ENSP00000351956:E1176K	E	+	1	0	MUC2	1078741	1.000000	0.71417	0.915000	0.36163	0.356000	0.29392	7.328000	0.79160	1.836000	0.53414	0.456000	0.33151	GAG		0.612	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2		NM_002457		4	22	0	0	0	1	0	4	22		
SLC22A18	5002	broad.mit.edu	37	11	2929501	2929501	+	Silent	SNP	C	C	T	rs567445363	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:2929501C>T	ENST00000380574.1	+	3	614	c.183C>T	c.(181-183)ttC>ttT	p.F61F	SLC22A18_ENST00000347936.2_Silent_p.F61F|SLC22A18_ENST00000312221.5_Silent_p.F61F|SLC22A18_ENST00000449793.2_Silent_p.F61F			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	61					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|excretion (GO:0007588)|organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|symporter activity (GO:0015293)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCATTGCCTTCGGCTACCTGC	0.617													C|||	2	0.000399361	0.0008	0.0	5008	,	,		15899	0.0		0.0	False		,,,				2504	0.001					uc001lwx.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(181-183)TTC>TTT		tumor suppressing subtransferable candidate 5							86.0	83.0	84.0					11																	2929501		2202	4299	6501	SO:0001819	synonymous_variant	5002				excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding	g.chr11:2929501C>T	AF028738	CCDS7740.1	11p15.5	2013-05-22	2008-01-11	2004-01-21	ENSG00000110628	ENSG00000110628		"""Solute carriers"""	10964	protein-coding gene	gene with protein product		602631	"""solute carrier family 22 (organic cation transporter), member 1-like"""	ORCTL2, BWSCR1A, IMPT1, SLC22A1L		9499412, 9520460	Standard	NM_183233		Approved	BWR1A, TSSC5, ITM	uc001lwx.3	Q96BI1	OTTHUMG00000010037	ENST00000380574.1:c.183C>T	11.37:g.2929501C>T						SLC22A18_uc001lwy.2_Silent_p.F61F|SLC22A18_uc001lwz.2_Silent_p.F61F	p.F61F	NM_183233	NP_899056	Q96BI1	S22AI_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)	3	401	+		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)	61			Helical; (Potential).		O14906|O43562|O60485|O60680|Q7LDS5|Q7LGF7	Silent	SNP	ENST00000380574.1	37	c.183C>T	CCDS7740.1																																																																																				0.617	SLC22A18-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027770.1		NM_183233		25	48	0	0	0	1	0	25	48		
SLC22A18	5002	broad.mit.edu	37	11	2946264	2946264	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:2946264C>T	ENST00000380574.1	+	11	1543	c.1112C>T	c.(1111-1113)tCt>tTt	p.S371F	SLC22A18_ENST00000441077.1_3'UTR|SLC22A18_ENST00000347936.2_Missense_Mutation_p.S371F|SLC22A18_ENST00000312221.5_Missense_Mutation_p.S371F|SLC22A18_ENST00000449793.2_Missense_Mutation_p.S273F			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	371					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|excretion (GO:0007588)|organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|symporter activity (GO:0015293)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTCTGCGCCTCTGTACAACCA	0.652																																						uc001lwx.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(1111-1113)TCT>TTT		tumor suppressing subtransferable candidate 5							77.0	71.0	73.0					11																	2946264		2202	4299	6501	SO:0001583	missense	5002				excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding	g.chr11:2946264C>T	AF028738	CCDS7740.1	11p15.5	2013-05-22	2008-01-11	2004-01-21	ENSG00000110628	ENSG00000110628		"""Solute carriers"""	10964	protein-coding gene	gene with protein product		602631	"""solute carrier family 22 (organic cation transporter), member 1-like"""	ORCTL2, BWSCR1A, IMPT1, SLC22A1L		9499412, 9520460	Standard	NM_183233		Approved	BWR1A, TSSC5, ITM	uc001lwx.3	Q96BI1	OTTHUMG00000010037	ENST00000380574.1:c.1112C>T	11.37:g.2946264C>T	ENSP00000369948:p.Ser371Phe					SLC22A18_uc001lwy.2_Missense_Mutation_p.S371F|SLC22A18_uc001lwz.2_Missense_Mutation_p.S273F	p.S371F	NM_183233	NP_899056	Q96BI1	S22AI_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)	11	1330	+		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)	371					O14906|O43562|O60485|O60680|Q7LDS5|Q7LGF7	Missense_Mutation	SNP	ENST00000380574.1	37	c.1112C>T	CCDS7740.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964289	0.53507	.	.	ENSG00000110628	ENST00000347936;ENST00000312221;ENST00000449793;ENST00000380574	T;T;T;T	0.80738	-1.41;-1.41;0.29;-1.41	4.65	3.67	0.42095	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.155307	0.44688	D	0.000425	D	0.87601	0.6218	M	0.71581	2.175	0.43559	D	0.99587	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.88835	0.3308	10	0.87932	D	0	-16.922	12.5295	0.56106	0.0:0.8325:0.1675:0.0	.	273;371	E9PRM7;Q96BI1	.;S22AI_HUMAN	F	371;371;273;371	ENSP00000307859:S371F;ENSP00000311139:S371F;ENSP00000392072:S273F;ENSP00000369948:S371F	ENSP00000311139:S371F	S	+	2	0	SLC22A18	2902840	0.691000	0.27709	0.718000	0.30602	0.319000	0.28217	3.847000	0.55895	2.136000	0.66102	0.561000	0.74099	TCT		0.652	SLC22A18-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027770.1		NM_183233		35	103	0	0	0	1	0	35	103		
OR51D1	390038	broad.mit.edu	37	11	4661773	4661773	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:4661773C>G	ENST00000357605.2	+	1	829	c.753C>G	c.(751-753)ttC>ttG	p.F251L	OR51E1_ENST00000396952.5_5'Flank	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCAAGGCTTTCAACACCTGCA	0.557																																						uc010qyk.1		NaN																	0					0						c.(751-753)TTC>TTG		olfactory receptor, family 51, subfamily D,							178.0	161.0	167.0					11																	4661773		2201	4298	6499	SO:0001583	missense	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661773C>G	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"""GPCR / Class A : Olfactory receptors"""	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.753C>G	11.37:g.4661773C>G	ENSP00000350222:p.Phe251Leu						p.F251L	NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	753	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	251			Helical; Name=6; (Potential).		B9EIK4	Missense_Mutation	SNP	ENST00000357605.2	37	c.753C>G	CCDS31357.1	.	.	.	.	.	.	.	.	.	.	C	0.201	-1.044957	0.01997	.	.	ENSG00000197428	ENST00000357605	T	0.00269	8.37	4.58	-0.869	0.10649	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000246	T	0.00073	0.0002	N	0.01493	-0.835	0.40121	D	0.976602	B	0.27882	0.192	P	0.47015	0.534	T	0.55347	-0.8155	10	0.02654	T	1	.	5.487	0.16755	0.0:0.4431:0.2465:0.3104	.	251	Q8NGF3	O51D1_HUMAN	L	251	ENSP00000350222:F251L	ENSP00000350222:F251L	F	+	3	2	OR51D1	4618349	0.000000	0.05858	0.992000	0.48379	0.041000	0.13682	-0.588000	0.05774	-0.239000	0.09710	-0.251000	0.11542	TTC		0.557	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1		NM_001004751		33	94	0	0	0	1	0	33	94		
OR52A4	390053	broad.mit.edu	37	11	5142389	5142389	+	RNA	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:5142389G>A	ENST00000498233.1	-	0	1009							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCTGTCGAGTGAATACTATAG	0.458																																						uc001lzz.1		NaN																	0				ovary(2)	2						c.(418-420)TTC>TTT		olfactory receptor, family 52, subfamily A,							73.0	66.0	68.0					11																	5142389		2201	4298	6499			390053							g.chr11:5142389G>A			11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"""GPCR / Class A : Olfactory receptors"""	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142389G>A						OR52A4_uc001maa.2_RNA	p.F140F	NM_001005222	NP_001005222				Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	420	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)							Silent	SNP	ENST00000498233.1	37	c.420C>T																																																																																					0.458	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1		NG_029079		12	39	0	0	0	1	0	12	39		
OR52D1	390066	broad.mit.edu	37	11	5510634	5510634	+	Missense_Mutation	SNP	C	C	T	rs534273929		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:5510634C>T	ENST00000322641.5	+	1	720	c.698C>T	c.(697-699)tCt>tTt	p.S233F	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	233					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCTTCCATCTCATGATGCC	0.512																																						uc010qzg.1		NaN																	0				central_nervous_system(1)	1						c.(697-699)TCT>TTT		olfactory receptor, family 52, subfamily D,							225.0	198.0	207.0					11																	5510634		2201	4297	6498	SO:0001583	missense	390066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5510634C>T	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.698C>T	11.37:g.5510634C>T	ENSP00000326232:p.Ser233Phe					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.S233F	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	698	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	233			Cytoplasmic (Potential).		B9EGY9|Q6IFI6	Missense_Mutation	SNP	ENST00000322641.5	37	c.698C>T	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.492008	0.44352	.	.	ENSG00000181609	ENST00000322641	T	0.00340	8.04	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.091297	0.48767	D	0.000166	T	0.01489	0.0048	H	0.95539	3.685	0.43637	D	0.996039	D	0.89917	1.0	D	0.80764	0.994	T	0.43393	-0.9394	10	0.87932	D	0	.	18.3106	0.90199	0.0:1.0:0.0:0.0	.	233	Q9H346	O52D1_HUMAN	F	233	ENSP00000326232:S233F	ENSP00000326232:S233F	S	+	2	0	OR52D1	5467210	0.699000	0.27786	0.906000	0.35671	0.004000	0.04260	2.923000	0.48868	2.906000	0.99361	0.655000	0.94253	TCT		0.512	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1		NM_001005163		35	161	0	0	0	1	0	35	161		
UBQLN3	50613	broad.mit.edu	37	11	5530516	5530516	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:5530516G>A	ENST00000311659.4	-	2	420	c.273C>T	c.(271-273)atC>atT	p.I91I	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	91	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.									NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGCCTCTTGATGACCAGGT	0.567																																					Ovarian(72;684 1260 12332 41642 52180)	uc001may.1		NaN																	0				ovary(3)	3						c.(271-273)ATC>ATT		ubiquilin 3							95.0	89.0	91.0					11																	5530516		2201	4297	6498	SO:0001819	synonymous_variant	50613							g.chr11:5530516G>A	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.273C>T	11.37:g.5530516G>A						HBG2_uc001mak.1_Intron	p.I91I	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	359	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	91			Ubiquitin-like.		Q9NRE0	Silent	SNP	ENST00000311659.4	37	c.273C>T	CCDS7758.1																																																																																				0.567	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1		NM_017481		21	75	0	0	0	1	0	21	75		
OR56A3	390083	broad.mit.edu	37	11	5968681	5968681	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:5968681C>T	ENST00000329564.6	+	1	112	c.105C>T	c.(103-105)ctC>ctT	p.L35L	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCTGCCCCTCAGCCTCCTTT	0.582																																						uc010qzt.1		NaN																	0					0						c.(103-105)CTC>CTT		olfactory receptor, family 56, subfamily A,							95.0	100.0	98.0					11																	5968681		2201	4296	6497	SO:0001819	synonymous_variant	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5968681C>T		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.105C>T	11.37:g.5968681C>T							p.L35L	NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	105	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	35			Helical; Name=1; (Potential).		A6NN77|Q6IFF7	Silent	SNP	ENST00000329564.6	37	c.105C>T	CCDS41614.1																																																																																				0.582	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1		NM_001003443		41	96	0	0	0	1	0	41	96		
DCHS1	8642	broad.mit.edu	37	11	6661080	6661080	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:6661080C>T	ENST00000299441.3	-	2	2176	c.1765G>A	c.(1765-1767)Gag>Aag	p.E589K		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	589	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGTGCCCTCAGGCAGTGAG	0.567																																						uc001mem.1		NaN																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(1765-1767)GAG>AAG		dachsous 1 precursor							60.0	59.0	59.0					11																	6661080		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6661080C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1765G>A	11.37:g.6661080C>T	ENSP00000299441:p.Glu589Lys						p.E589K	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	2175	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	589			Cadherin 6.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.1765G>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298604	0.81025	.	.	ENSG00000166341	ENST00000299441	T	0.76316	-1.01	4.65	4.65	0.58169	Cadherin (3);Cadherin-like (1);	0.367561	0.19689	N	0.108336	D	0.92665	0.7669	H	0.97940	4.11	0.58432	D	0.999998	D	0.65815	0.995	D	0.80764	0.994	D	0.95112	0.8239	10	0.87932	D	0	.	17.077	0.86589	0.0:1.0:0.0:0.0	.	589	Q96JQ0	PCD16_HUMAN	K	589	ENSP00000299441:E589K	ENSP00000299441:E589K	E	-	1	0	DCHS1	6617656	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.592000	0.82676	2.588000	0.87417	0.579000	0.79373	GAG		0.567	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1		NM_003737		11	65	0	0	0	1	0	11	65		
RBMXL2	27288	broad.mit.edu	37	11	7110619	7110619	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:7110619G>A	ENST00000306904.5	+	1	455	c.268G>A	c.(268-270)Gag>Aag	p.E90K		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	90						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACCGGCGTTCGAGAGCAGCCG	0.736																																						uc001mfc.2		NaN																	0					0						c.(268-270)GAG>AAG		testes-specific heterogenous nuclear							9.0	10.0	10.0					11																	7110619		2164	4265	6429	SO:0001583	missense	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7110619G>A	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.268G>A	11.37:g.7110619G>A	ENSP00000304139:p.Glu90Lys						p.E90K	NM_014469	NP_055284	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	455	+			90					Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	37	c.268G>A	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	G	8.610	0.888831	0.17540	.	.	ENSG00000170748	ENST00000306904	T	0.73363	-0.74	2.38	0.471	0.16752	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	U	0.000000	T	0.54143	0.1840	L	0.45137	1.4	0.35262	D	0.779718	P	0.37997	0.614	B	0.28232	0.087	T	0.52079	-0.8623	10	0.28530	T	0.3	.	4.6885	0.12769	0.3246:0.0:0.6754:0.0	.	90	O75526	HNRGT_HUMAN	K	90	ENSP00000304139:E90K	ENSP00000304139:E90K	E	+	1	0	RBMXL2	7067195	0.997000	0.39634	0.850000	0.33497	0.285000	0.27093	1.231000	0.32624	0.104000	0.17725	-0.680000	0.03767	GAG		0.736	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1		NM_014469		6	22	0	0	0	1	0	6	22		
ASCL3	56676	broad.mit.edu	37	11	8959695	8959695	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:8959695C>T	ENST00000531618.1	-	1	63	c.14G>A	c.(13-15)aGa>aAa	p.R5K	ASCL3_ENST00000325884.1_Missense_Mutation_p.R5K			Q9NQ33	ASCL3_HUMAN	achaete-scute family bHLH transcription factor 3	4					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		AGAGTTGCCTCTGTTGTCCAT	0.443																																						uc001mhd.1		NaN																	0					0						c.(13-15)AGA>AAA		ASCL3							152.0	164.0	160.0					11																	8959695		2201	4295	6496	SO:0001583	missense	56676				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding	g.chr11:8959695C>T	AJ400877	CCDS7795.1	11p15.3	2013-10-17	2013-10-17			ENSG00000176009		"""Basic helix-loop-helix proteins"""	740	protein-coding gene	gene with protein product		609154	"""achaete-scute complex (Drosophila) homolog-like 3"", ""achaete-scute complex homolog 3 (Drosophila)"""			11528127	Standard	NM_020646		Approved	bHLHa42, HASH3, Sgn1	uc001mhd.1	Q9NQ33	OTTHUMG00000165679	ENST00000531618.1:c.14G>A	11.37:g.8959695C>T	ENSP00000435770:p.Arg5Lys						p.R5K	NM_020646	NP_065697	Q9NQ33	ASCL3_HUMAN		Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)	2	74	-			4					Q8WYQ6	Missense_Mutation	SNP	ENST00000531618.1	37	c.14G>A	CCDS7795.1	.	.	.	.	.	.	.	.	.	.	C	7.677	0.688230	0.14973	.	.	ENSG00000176009	ENST00000325884;ENST00000531618	D;D	0.97161	-4.27;-4.27	5.96	3.9	0.45041	.	0.466331	0.20452	N	0.092066	D	0.90249	0.6951	N	0.14661	0.345	0.26280	N	0.978282	B	0.06786	0.001	B	0.06405	0.002	T	0.79564	-0.1751	10	0.21014	T	0.42	-4.6209	4.4278	0.11513	0.0:0.6423:0.0:0.3577	.	4	Q9NQ33	ASCL3_HUMAN	K	5	ENSP00000318846:R5K;ENSP00000435770:R5K	ENSP00000318846:R5K	R	-	2	0	ASCL3	8916271	0.992000	0.36948	0.938000	0.37757	0.043000	0.13939	0.854000	0.27791	1.539000	0.49286	0.650000	0.86243	AGA		0.443	ASCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385773.1				80	227	0	0	0	1	0	80	227		
SCUBE2	57758	broad.mit.edu	37	11	9111371	9111371	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:9111371C>G	ENST00000309263.3	-	2	211	c.139G>C	c.(139-141)Gat>Cat	p.D47H	SCUBE2_ENST00000450649.2_Missense_Mutation_p.D47H|SCUBE2_ENST00000534295.1_5'UTR|SCUBE2_ENST00000457346.2_Missense_Mutation_p.D47H|SCUBE2_ENST00000520467.1_Missense_Mutation_p.D47H|MIR5691_ENST00000579525.1_RNA			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	47	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GCACACTCATCTACATCTGCA	0.597																																						uc001mhh.1		NaN																	0				ovary(1)|skin(1)	2						c.(139-141)GAT>CAT		CEGP1 protein precursor							193.0	153.0	167.0					11																	9111371		2201	4296	6497	SO:0001583	missense	57758					extracellular region	calcium ion binding	g.chr11:9111371C>G	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.139G>C	11.37:g.9111371C>G	ENSP00000310658:p.Asp47His					SCUBE2_uc001mhi.1_Missense_Mutation_p.D47H|SCUBE2_uc001mhj.1_Missense_Mutation_p.D47H	p.D47H	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	2	219	-			47			EGF-like 1; calcium-binding (Potential).		Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37	c.139G>C		.	.	.	.	.	.	.	.	.	.	C	25.6	4.651992	0.88056	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76	4.83	4.83	0.62350	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.048254	0.85682	D	0.000000	D	0.98701	0.9564	H	0.98068	4.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99671	1.0996	10	0.87932	D	0	.	17.7067	0.88310	0.0:1.0:0.0:0.0	.	47;47;47	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	H	47	ENSP00000390481:D47H;ENSP00000310658:D47H;ENSP00000415187:D47H;ENSP00000429969:D47H	ENSP00000310658:D47H	D	-	1	0	SCUBE2	9067947	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.488000	0.81441	2.496000	0.84212	0.557000	0.71058	GAT		0.597	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2		NM_020974		27	106	0	0	0	1	0	27	106		
AMPD3	272	broad.mit.edu	37	11	10483090	10483090	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:10483090G>A	ENST00000396554.3	+	2	392	c.51G>A	c.(49-51)ctG>ctA	p.L17L	AMPD3_ENST00000444303.2_5'UTR	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	8					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TTCCCAAGCTGAACATCTCTG	0.537																																						uc001mio.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(22-24)CTG>CTA		adenosine monophosphate deaminase 3 isoform 1B							130.0	134.0	133.0					11																	10483090		2201	4294	6495	SO:0001819	synonymous_variant	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10483090G>A	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.51G>A	11.37:g.10483090G>A						AMPD3_uc010rbz.1_5'UTR|AMPD3_uc001min.1_Silent_p.L17L|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfx.1_Silent_p.L8L|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Silent_p.L15L|AMPD3_uc009yfy.2_Silent_p.L8L	p.L8L	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	2	359	+			8					A0AUX0|B7Z2S2|B7Z763|B7Z877	Silent	SNP	ENST00000396554.3	37	c.24G>A	CCDS7802.1																																																																																				0.537	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2		NM_000480		49	166	0	0	0	1	0	49	166		
MICAL2	9645	broad.mit.edu	37	11	12245000	12245000	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:12245000C>T	ENST00000256194.4	+	12	1780	c.1492C>T	c.(1492-1494)Ctc>Ttc	p.L498F	MICAL2_ENST00000379612.3_Missense_Mutation_p.L498F|MICAL2_ENST00000527546.1_Missense_Mutation_p.L498F|MICAL2_ENST00000342902.5_Missense_Mutation_p.L498F|MICAL2_ENST00000537344.1_Missense_Mutation_p.L498F	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	498					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|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)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCACTACCCTCTCGAGAGACT	0.562																																						uc001mjz.2		NaN																	0				upper_aerodigestive_tract(2)	2						c.(1492-1494)CTC>TTC		microtubule associated monoxygenase, calponin							111.0	105.0	107.0					11																	12245000		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12245000C>T	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1492C>T	11.37:g.12245000C>T	ENSP00000256194:p.Leu498Phe					MICAL2_uc010rch.1_Missense_Mutation_p.L498F|MICAL2_uc001mka.2_Missense_Mutation_p.L498F|MICAL2_uc010rci.1_Missense_Mutation_p.L498F|MICAL2_uc001mkb.2_Missense_Mutation_p.L498F|MICAL2_uc001mkc.2_Missense_Mutation_p.L498F|MICAL2_uc001mkd.2_Missense_Mutation_p.L327F|MICAL2_uc010rcj.1_5'UTR	p.L498F	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	12	1780	+			498					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.1492C>T	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.249826	0.22880	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19	5.8	4.89	0.63831	Calponin homology domain (1);	0.073069	0.53938	D	0.000041	T	0.75722	0.3888	M	0.74881	2.28	0.58432	D	0.999997	D;D;B;D;B	0.89917	1.0;0.998;0.209;0.997;0.431	D;D;B;D;B	0.79108	0.992;0.974;0.055;0.953;0.248	T	0.79196	-0.1903	10	0.66056	D	0.02	.	15.9998	0.80285	0.1357:0.8643:0.0:0.0	.	498;498;498;498;498	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	F	498;31;498;498;498;498	ENSP00000441689:L498F;ENSP00000256194:L498F;ENSP00000433965:L498F;ENSP00000344894:L498F;ENSP00000368932:L498F	ENSP00000256194:L498F	L	+	1	0	MICAL2	12201576	1.000000	0.71417	0.985000	0.45067	0.046000	0.14306	2.788000	0.47806	1.439000	0.47511	-0.169000	0.13324	CTC		0.562	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1		NM_014632		28	121	0	0	0	1	0	28	121		
BTBD10	84280	broad.mit.edu	37	11	13427306	13427306	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:13427306C>G	ENST00000278174.5	-	7	1151	c.906G>C	c.(904-906)caG>caC	p.Q302H	BTBD10_ENST00000530907.1_Missense_Mutation_p.Q310H|BTBD10_ENST00000528120.1_Missense_Mutation_p.Q254H	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	302	Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}.					nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		GTTCCCCACTCTGGGCACTAG	0.428																																						uc001mkz.2		NaN																	0					0						c.(904-906)CAG>CAC		K+ channel tetramerization protein							198.0	179.0	186.0					11																	13427306		2200	4293	6493	SO:0001583	missense	84280					nucleus		g.chr11:13427306C>G	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.906G>C	11.37:g.13427306C>G	ENSP00000278174:p.Gln302His					BTBD10_uc010rcl.1_Missense_Mutation_p.Q310H|BTBD10_uc001mla.2_Missense_Mutation_p.Q286H|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Missense_Mutation_p.Q254H|BTBD10_uc010rcn.1_Missense_Mutation_p.Q271H|BTBD10_uc009ygo.2_Missense_Mutation_p.Q254H	p.Q302H	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	7	1163	-			302					B7Z228|Q86WG1	Missense_Mutation	SNP	ENST00000278174.5	37	c.906G>C	CCDS7811.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285648	0.80803	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	T;T;T	0.80738	-1.41;-1.41;-1.41	5.33	4.39	0.52855	.	0.049846	0.85682	D	0.000000	D	0.83110	0.5183	L	0.50333	1.59	0.80722	D	1	P;P;P;P	0.51057	0.899;0.941;0.941;0.941	P;P;P;P	0.56823	0.653;0.807;0.739;0.739	D	0.83898	0.0288	10	0.87932	D	0	-18.5868	10.5692	0.45190	0.0:0.8341:0.0:0.1659	.	271;310;302;302	B7Z2J1;B7Z228;D3DQW7;Q9BSF8	.;.;.;BTBDA_HUMAN	H	302;310;254	ENSP00000278174:Q302H;ENSP00000431186:Q310H;ENSP00000435257:Q254H	ENSP00000278174:Q302H	Q	-	3	2	BTBD10	13383882	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.721000	0.25911	1.183000	0.42943	0.591000	0.81541	CAG		0.428	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1		NM_032320		44	117	0	0	0	1	0	44	117		
RPS13	6207	broad.mit.edu	37	11	17099182	17099182	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:17099182G>A	ENST00000525634.1	-	1	152	c.7C>T	c.(7-9)Cgc>Tgc	p.R3C	RPS13_ENST00000526895.1_5'UTR|RPS13_ENST00000228140.2_Missense_Mutation_p.R3C|SNORD14A_ENST00000606526.1_RNA|SNORD14B_ENST00000364533.1_RNA|PIK3C2A_ENST00000531428.1_5'Flank			P62277	RS13_HUMAN	ribosomal protein S13	3					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of RNA splicing (GO:0033119)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						GCATGCATGCGACCCATGATG	0.652																																						uc001mmp.2		NaN																	0					0						c.(7-9)CGC>TGC		ribosomal protein S13							38.0	45.0	43.0					11																	17099182		2200	4294	6494	SO:0001583	missense	6207				endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome	g.chr11:17099182G>A	X79239	CCDS7823.1	11p	2011-04-05			ENSG00000110700	ENSG00000110700		"""S ribosomal proteins"""	10386	protein-coding gene	gene with protein product	"""40S ribosomal protein S13"""	180476				8332508, 9582194	Standard	NM_001017		Approved	S13	uc001mmp.3	P62277	OTTHUMG00000165988	ENST00000525634.1:c.7C>T	11.37:g.17099182G>A	ENSP00000435777:p.Arg3Cys						p.R3C	NM_001017	NP_001008	P62277	RS13_HUMAN			1	39	-			3					B2R549|P19116|Q02546|Q29200|Q498Y0	Missense_Mutation	SNP	ENST00000525634.1	37	c.7C>T	CCDS7823.1	.	.	.	.	.	.	.	.	.	.	G	36	5.856762	0.97030	.	.	ENSG00000110700	ENST00000228140;ENST00000525634;ENST00000533969	T	0.31247	1.5	6.07	6.07	0.98685	Ribosomal protein S13/S15, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.50411	0.1614	M	0.81179	2.53	0.80722	D	1	D	0.59767	0.986	P	0.51193	0.662	T	0.53995	-0.8359	10	0.66056	D	0.02	-39.8009	18.417	0.90574	0.0:0.0:1.0:0.0	.	3	P62277	RS13_HUMAN	C	3	ENSP00000432096:R3C	ENSP00000228140:R3C	R	-	1	0	RPS13	17055758	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.305000	0.96197	2.884000	0.98904	0.655000	0.94253	CGC		0.652	RPS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387320.2		NM_001017		14	50	0	0	0	1	0	14	50		
NAV2	89797	broad.mit.edu	37	11	20078127	20078127	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:20078127C>T	ENST00000396087.3	+	21	5051	c.4952C>T	c.(4951-4953)tCa>tTa	p.S1651L	NAV2_ENST00000360655.4_Intron|NAV2_ENST00000349880.4_Intron|NAV2_ENST00000396085.1_Intron|NAV2_ENST00000527559.2_Missense_Mutation_p.S1580L|NAV2_ENST00000311043.8_Intron|NAV2_ENST00000533917.1_Intron|NAV2_ENST00000540292.1_Missense_Mutation_p.S1582L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1651	Ser-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CTTCACAGCTCACTTCATTTC	0.408																																						uc010rdm.1		NaN																	0				skin(4)|ovary(1)|pancreas(1)	6						c.(4951-4953)TCA>TTA		neuron navigator 2 isoform 2							156.0	148.0	151.0					11																	20078127		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20078127C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.4952C>T	11.37:g.20078127C>T	ENSP00000379396:p.Ser1651Leu					NAV2_uc001mpp.2_Intron|NAV2_uc001mpr.3_Intron|NAV2_uc001mpt.2_Intron|NAV2_uc009yhx.2_Intron|NAV2_uc009yhy.1_Intron|NAV2_uc009yhz.2_Intron|NAV2_uc001mpu.2_Intron	p.S1651L	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN			21	5313	+			1651			Ser-rich.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.4952C>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	7.009	0.556337	0.13436	.	.	ENSG00000166833	ENST00000396087;ENST00000527559;ENST00000540292	T;T;T	0.27402	1.77;1.67;1.67	4.01	1.08	0.20341	.	5.122850	0.00541	N	0.000231	T	0.23171	0.0560	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.17440	-1.0369	6	.	.	.	.	6.3798	0.21527	0.0:0.6812:0.0:0.3188	.	.	.	.	L	1651;1580;1582	ENSP00000379396:S1651L;ENSP00000435395:S1580L;ENSP00000443489:S1582L	.	S	+	2	0	NAV2	20034703	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-0.003000	0.12901	0.256000	0.21614	0.467000	0.42956	TCA		0.408	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1		NM_145117		9	43	0	0	0	1	0	9	43		
ANO5	203859	broad.mit.edu	37	11	22297645	22297645	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:22297645G>C	ENST00000324559.8	+	21	2737	c.2420G>C	c.(2419-2421)aGa>aCa	p.R807T	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	807					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTCAGGTACAGAGATTACAGA	0.323																																						uc001mqi.2		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(2419-2421)AGA>ACA		anoctamin 5 isoform a							77.0	73.0	74.0					11																	22297645		2203	4298	6501	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22297645G>C	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2420G>C	11.37:g.22297645G>C	ENSP00000315371:p.Arg807Thr					ANO5_uc001mqj.2_Missense_Mutation_p.R806T	p.R807T	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			21	2737	+			807			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000324559.8	37	c.2420G>C	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575794	0.86645	.	.	ENSG00000171714	ENST00000324559	T	0.73469	-0.75	4.54	4.54	0.55810	.	0.150127	0.56097	D	0.000022	D	0.85239	0.5651	M	0.80028	2.48	0.80722	D	1	D	0.59357	0.985	P	0.60541	0.876	D	0.86409	0.1747	10	0.48119	T	0.1	.	18.1531	0.89682	0.0:0.0:1.0:0.0	.	807	Q75V66	ANO5_HUMAN	T	807	ENSP00000315371:R807T	ENSP00000315371:R807T	R	+	2	0	ANO5	22254221	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.869000	0.87170	2.465000	0.83290	0.555000	0.69702	AGA		0.323	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1		NM_213599		11	29	0	0	0	1	0	11	29		
MUC15	143662	broad.mit.edu	37	11	26586972	26586972	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:26586972G>C	ENST00000455601.2	-	2	552	c.434C>G	c.(433-435)tCt>tGt	p.S145C	MUC15_ENST00000281268.8_Missense_Mutation_p.S172C|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.S172C|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.S172C|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000436318.2_Missense_Mutation_p.S172C	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	145					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GTTTTCTGAAGACAGAGCAGG	0.428																																						uc001mqx.2		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(433-435)TCT>TGT		mucin 15 isoform b							166.0	155.0	159.0					11																	26586972		2203	4300	6503	SO:0001583	missense	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26586972G>C	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.434C>G	11.37:g.26586972G>C	ENSP00000397339:p.Ser145Cys					ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.S172C|MUC15_uc001mqy.2_Missense_Mutation_p.S172C	p.S145C	NM_145650	NP_663625	Q8N387	MUC15_HUMAN			2	700	-			145			Extracellular (Potential).		B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	ENST00000455601.2	37	c.434C>G	CCDS7859.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.346328	0.41599	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.27890	1.7;1.68;1.64;1.68;1.64	4.66	3.73	0.42828	.	0.813314	0.10859	N	0.626377	T	0.44953	0.1318	L	0.43923	1.385	0.09310	N	1	D;D;D	0.76494	0.999;0.995;0.995	D;P;P	0.66979	0.948;0.847;0.847	T	0.20806	-1.0264	10	0.62326	D	0.03	-4.5745	9.7788	0.40637	0.1:0.0:0.9:0.0	.	172;145;172	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	C	145;172;172;172;172	ENSP00000397339:S145C;ENSP00000416753:S172C;ENSP00000281268:S172C;ENSP00000431983:S172C;ENSP00000431945:S172C	ENSP00000281268:S172C	S	-	2	0	MUC15	26543548	0.193000	0.23313	0.002000	0.10522	0.002000	0.02628	2.856000	0.48341	1.239000	0.43787	0.650000	0.86243	TCT		0.428	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1		NM_145650		35	122	0	0	0	1	0	35	122		
ELP4	26610	broad.mit.edu	37	11	31648699	31648699	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:31648699G>A	ENST00000350638.5	+	6	731	c.696G>A	c.(694-696)caG>caA	p.Q232Q	ELP4_ENST00000395934.2_Silent_p.Q232Q|ELP4_ENST00000379163.5_Silent_p.Q233Q	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	232					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|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)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					AGTTTATCCAGAACATCATTT	0.318																																						uc001mtb.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|prostate(1)	3						c.(694-696)CAG>CAA		elongation protein 4 homolog							116.0	103.0	107.0					11																	31648699		1817	4081	5898	SO:0001819	synonymous_variant	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31648699G>A	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.696G>A	11.37:g.31648699G>A						ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Silent_p.Q232Q|ELP4_uc010rdz.1_Silent_p.Q233Q	p.Q232Q	NM_019040	NP_061913	Q96EB1	ELP4_HUMAN			6	731	+	Lung SC(675;0.225)		232					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Silent	SNP	ENST00000350638.5	37	c.696G>A	CCDS7875.2																																																																																				0.318	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1		NM_019040		14	44	0	0	0	1	0	14	44		
FBXO3	26273	broad.mit.edu	37	11	33772145	33772145	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:33772145G>A	ENST00000265651.3	-	8	890	c.872C>T	c.(871-873)tCg>tTg	p.S291L	FBXO3_ENST00000530401.1_Missense_Mutation_p.S286L|FBXO3_ENST00000532057.1_5'UTR|FBXO3_ENST00000531080.1_5'UTR|FBXO3_ENST00000448981.2_Missense_Mutation_p.S291L|FBXO3_ENST00000534136.1_Missense_Mutation_p.S291L|FBXO3_ENST00000526785.1_Missense_Mutation_p.S178L	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	291	ApaG. {ECO:0000255|PROSITE- ProRule:PRU00412}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		TGGCAGAAACGATGTGGAAAC	0.373																																						uc001muz.2		NaN																	0				pancreas(1)	1						c.(871-873)TCG>TTG		F-box only protein 3 isoform 1							136.0	134.0	135.0					11																	33772145		2202	4298	6500	SO:0001583	missense	26273				proteolysis	nucleus	ubiquitin-protein ligase activity	g.chr11:33772145G>A	AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"""F-boxes /  ""other"""""	13582	protein-coding gene	gene with protein product		609089	"""F-box only protein 3"""			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.872C>T	11.37:g.33772145G>A	ENSP00000265651:p.Ser291Leu					FBXO3_uc010rej.1_5'UTR|FBXO3_uc001muy.2_Missense_Mutation_p.S178L|FBXO3_uc009ykb.2_RNA|FBXO3_uc001mva.1_Missense_Mutation_p.S291L|FBXO3_uc001mvb.1_Missense_Mutation_p.S286L|FBXO3_uc010rek.1_RNA	p.S291L	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)	8	900	-		Lung NSC(402;0.0804)	291			ApaG.		B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Missense_Mutation	SNP	ENST00000265651.3	37	c.872C>T	CCDS7887.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.122461	0.56613	.	.	ENSG00000110429	ENST00000526785;ENST00000265651;ENST00000530401;ENST00000534136;ENST00000448981	T;T;T;T;T	0.44881	0.91;0.92;0.95;0.94;0.95	5.58	5.58	0.84498	ApaG domain (3);	0.000000	0.85682	D	0.000000	T	0.31670	0.0804	L	0.48260	1.515	0.80722	D	1	B;B;P	0.40107	0.433;0.433;0.703	B;B;B	0.25884	0.064;0.064;0.044	T	0.22591	-1.0212	10	0.09590	T	0.72	-8.7358	19.5633	0.95382	0.0:0.0:1.0:0.0	.	286;291;291	Q9UK99-3;Q9UK99-2;Q9UK99	.;.;FBX3_HUMAN	L	178;291;286;291;291	ENSP00000435680:S178L;ENSP00000265651:S291L;ENSP00000433781:S286L;ENSP00000431745:S291L;ENSP00000408836:S291L	ENSP00000265651:S291L	S	-	2	0	FBXO3	33728721	1.000000	0.71417	0.364000	0.25888	0.576000	0.36127	9.230000	0.95299	2.650000	0.89964	0.591000	0.81541	TCG		0.373	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1		NM_012175		10	34	0	0	0	1	0	10	34		
RAG2	5897	broad.mit.edu	37	11	36614675	36614675	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:36614675C>G	ENST00000311485.3	-	2	1205	c.1044G>C	c.(1042-1044)ttG>ttC	p.L348F	C11orf74_ENST00000334307.5_5'Flank|C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000347206.4_5'Flank|C11orf74_ENST00000534635.1_5'Flank|RAG2_ENST00000528428.1_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	348					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				CAGCACATTTCAACATATAGA	0.383									Familial Hemophagocytic Lymphohistiocytosis																													uc001mwv.3		NaN																	0				skin(3)|ovary(1)|pancreas(1)	5						c.(1042-1044)TTG>TTC		recombination activating gene 2							164.0	162.0	163.0					11																	36614675		2202	4298	6500	SO:0001583	missense	5897	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	g.chr11:36614675C>G	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.1044G>C	11.37:g.36614675C>G	ENSP00000308620:p.Leu348Phe					RAG1_uc001mwt.2_RNA|C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	p.L348F	NM_000536	NP_000527	P55895	RAG2_HUMAN			2	1232	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	348					A8K9E9|Q8TBL4	Missense_Mutation	SNP	ENST00000311485.3	37	c.1044G>C	CCDS7903.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.949055	0.34377	.	.	ENSG00000175097	ENST00000311485	D	0.91945	-2.94	5.1	3.23	0.37069	.	0.080796	0.48767	D	0.000167	D	0.95667	0.8591	M	0.89287	3.02	0.47476	D	0.99943	D	0.76494	0.999	D	0.87578	0.998	D	0.94382	0.7605	10	0.87932	D	0	-5.8296	7.3376	0.26619	0.0:0.7143:0.1375:0.1482	.	348	P55895	RAG2_HUMAN	F	348	ENSP00000308620:L348F	ENSP00000308620:L348F	L	-	3	2	RAG2	36571251	1.000000	0.71417	0.973000	0.42090	0.497000	0.33675	1.385000	0.34408	0.645000	0.30675	0.650000	0.86243	TTG		0.383	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1		NM_000536		32	93	0	0	0	1	0	32	93		
AMBRA1	55626	broad.mit.edu	37	11	46419000	46419000	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:46419000C>T	ENST00000458649.2	-	18	4315	c.3897G>A	c.(3895-3897)taG>taA	p.*1299*	AMBRA1_ENST00000533727.1_Silent_p.*1180*|AMBRA1_ENST00000528950.1_Silent_p.*1270*|AMBRA1_ENST00000534300.1_Silent_p.*1239*|AMBRA1_ENST00000298834.3_Silent_p.*1239*|AMBRA1_ENST00000314845.3_Silent_p.*1209*|AMBRA1_ENST00000426438.1_Silent_p.*1270*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	0					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		ACGTTTGTCTCTACCTGTTCC	0.592																																						uc010rgu.1		NaN																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(3895-3897)TAG>TAA		activating molecule in beclin-1-regulated							127.0	113.0	118.0					11																	46419000		2202	4299	6501	SO:0001819	synonymous_variant	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46419000C>T	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3897G>A	11.37:g.46419000C>T						AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Silent_p.*1270*|AMBRA1_uc001ncu.1_Silent_p.*1209*|AMBRA1_uc001ncv.2_Silent_p.*1302*|AMBRA1_uc001ncw.2_Silent_p.*1180*|AMBRA1_uc001ncx.2_Silent_p.*1239*	p.*1299*	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	18	4257	-			1299					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP	ENST00000458649.2	37	c.3897G>A																																																																																					0.592	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1		NM_017749		31	95	0	0	0	1	0	31	95		
CKAP5	9793	broad.mit.edu	37	11	46801788	46801788	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:46801788C>T	ENST00000529230.1	-	20	2435	c.2389G>A	c.(2389-2391)Gag>Aag	p.E797K	CKAP5_ENST00000415402.1_Missense_Mutation_p.E797K|CKAP5_ENST00000312055.5_Missense_Mutation_p.E797K|CKAP5_ENST00000354558.3_Missense_Mutation_p.E797K			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	797					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GCAGGCTTCTCATCCTCAAAG	0.443																																					Ovarian(4;85 273 2202 4844 13323)	uc001ndi.1		NaN																	0				ovary(1)|skin(1)	2						c.(2389-2391)GAG>AAG		colonic and hepatic tumor over-expressed protein							80.0	76.0	77.0					11																	46801788		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding	g.chr11:46801788C>T		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2389G>A	11.37:g.46801788C>T	ENSP00000432768:p.Glu797Lys					CKAP5_uc009ylg.1_Missense_Mutation_p.E683K|CKAP5_uc001ndj.1_Missense_Mutation_p.E797K	p.E797K	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN			20	2499	-			797					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.2389G>A	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	C	36	5.839906	0.97009	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.61	5.61	0.85477	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80287	0.4595	M	0.84082	2.675	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.997	D;D;D	0.83275	0.996;0.991;0.98	T	0.75752	-0.3207	10	0.14656	T	0.56	-7.2915	19.6378	0.95744	0.0:1.0:0.0:0.0	.	797;797;797	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	K	797	ENSP00000432768:E797K;ENSP00000395302:E797K;ENSP00000310227:E797K;ENSP00000346566:E797K	ENSP00000310227:E797K	E	-	1	0	CKAP5	46758364	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.711000	0.84669	2.631000	0.89168	0.655000	0.94253	GAG		0.443	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1		NM_014756		12	55	0	0	0	1	0	12	55		
LRP4	4038	broad.mit.edu	37	11	46907941	46907941	+	Missense_Mutation	SNP	C	C	T	rs368412829		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:46907941C>T	ENST00000378623.1	-	17	2601	c.2359G>A	c.(2359-2361)Gtg>Atg	p.V787M		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	787					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTCCAGTACACGTGGTCATCC	0.577																																						uc001ndn.3		NaN																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(2359-2361)GTG>ATG		low density lipoprotein receptor-related protein		C	MET/VAL	0,4402		0,0,2201	102.0	75.0	84.0		2359	4.8	1.0	11		84	1,8597	1.2+/-3.3	0,1,4298	no	missense	LRP4	NM_002334.3	21	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign	787/1906	46907941	1,12999	2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46907941C>T	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.2359G>A	11.37:g.46907941C>T	ENSP00000367888:p.Val787Met						p.V787M	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	17	2505	-			787			Extracellular (Potential).|LDL-receptor class B 6.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.2359G>A	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804138	0.50315	0.0	1.16E-4	ENSG00000134569	ENST00000378623	D	0.95788	-3.81	5.76	4.85	0.62838	Six-bladed beta-propeller, TolB-like (1);	0.114000	0.64402	D	0.000012	D	0.92014	0.7470	N	0.20357	0.565	0.47737	D	0.999506	B	0.33512	0.415	B	0.42163	0.378	D	0.90763	0.4666	10	0.52906	T	0.07	.	10.3503	0.43931	0.0:0.7944:0.1358:0.0698	.	787	O75096	LRP4_HUMAN	M	787	ENSP00000367888:V787M	ENSP00000367888:V787M	V	-	1	0	LRP4	46864517	1.000000	0.71417	1.000000	0.80357	0.420000	0.31355	4.454000	0.60068	1.438000	0.47492	-0.264000	0.10439	GTG		0.577	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1		NM_002334		7	19	0	0	0	1	0	7	19		
C11orf49	79096	broad.mit.edu	37	11	47073976	47073976	+	Nonsense_Mutation	SNP	C	C	T	rs14051		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:47073976C>T	ENST00000278460.7	+	3	246	c.187C>T	c.(187-189)Cga>Tga	p.R63*	C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000378615.3_Nonsense_Mutation_p.R63*|C11orf49_ENST00000395460.2_Nonsense_Mutation_p.R63*|C11orf49_ENST00000543718.1_Intron|C11orf49_ENST00000378618.2_Nonsense_Mutation_p.R63*	NM_001003677.1|NM_024113.3	NP_001003677.1|NP_077018.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	63						nucleus (GO:0005634)		p.R63*(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						CATTCTCTTTCGAGAATTCAG	0.453																																						uc001ndp.2		NaN																	2	Substitution - Nonsense(2)		lung(2)		0						c.(187-189)CGA>TGA		hypothetical protein LOC79096 isoform 3							150.0	148.0	149.0					11																	47073976		2201	4299	6500	SO:0001587	stop_gained	79096							g.chr11:47073976C>T	AL136575	CCDS7925.1, CCDS31479.1, CCDS31480.1, CCDS41641.1	11p11.2	2006-02-02			ENSG00000149179	ENSG00000149179			28720	protein-coding gene	gene with protein product							Standard	NM_001003677		Approved	FLJ22210, MGC4707	uc001ndr.4	Q9H6J7	OTTHUMG00000166725	ENST00000278460.7:c.187C>T	11.37:g.47073976C>T	ENSP00000278460:p.Arg63*					C11orf49_uc001nds.2_Nonsense_Mutation_p.R63*|C11orf49_uc001ndq.2_Nonsense_Mutation_p.R63*|C11orf49_uc001ndr.2_Nonsense_Mutation_p.R63*|C11orf49_uc010rgx.1_5'UTR|C11orf49_uc010rgy.1_Nonsense_Mutation_p.R54*|C11orf49_uc010rgz.1_Intron	p.R63*	NM_024113	NP_077018	Q9H6J7	CK049_HUMAN			3	293	+			63					D3DQQ8|E9PAX7|Q7L077|Q96CS8|Q9BQH4|Q9BUW5	Nonsense_Mutation	SNP	ENST00000278460.7	37	c.187C>T	CCDS7925.1	.	.	.	.	.	.	.	.	.	.	C	36	5.617081	0.96649	.	.	ENSG00000149179	ENST00000278460;ENST00000378618;ENST00000395460;ENST00000378615	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.0112	15.2928	0.73879	0.14:0.86:0.0:0.0	rs14051;rs1801640	.	.	.	X	63	.	ENSP00000278460:R63X	R	+	1	2	C11orf49	47030552	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.335000	0.52105	2.861000	0.98227	0.655000	0.94253	CGA		0.453	C11orf49-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391218.1		NM_024113		50	134	0	0	0	1	0	50	134		
DDB2	1643	broad.mit.edu	37	11	47259519	47259519	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:47259519G>A	ENST00000256996.4	+	8	1350	c.1155G>A	c.(1153-1155)caG>caA	p.Q385Q	DDB2_ENST00000378601.3_3'UTR|ACP2_ENST00000525230.1_5'Flank|DDB2_ENST00000378600.3_Silent_p.Q196Q|DDB2_ENST00000378603.3_Silent_p.Q321Q	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	385					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						TGATGTGTCAGCTCTATGACC	0.463			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc001neb.2		NaN	yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	Mis|N	damage-specific DNA binding protein 2			E		skin basal cell|skin squamous cell|melanoma			0				kidney(2)|ovary(1)	3						c.(1153-1155)CAG>CAA	Direct_reversal_of_damage|NER	damage-specific DNA binding protein 2							108.0	95.0	99.0					11																	47259519		2201	4298	6499	SO:0001819	synonymous_variant	1643	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding	g.chr11:47259519G>A		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"""WD repeat domain containing"""	2718	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group E protein"", ""UV-damaged DNA-binding protein 2"", ""DDB p48 subunit"""	600811	"""damage-specific DNA binding protein 2 (48kD)"""			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.1155G>A	11.37:g.47259519G>A						DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Silent_p.Q321Q|DDB2_uc001ned.2_RNA|DDB2_uc001nee.2_Silent_p.Q196Q|DDB2_uc001nef.2_Silent_p.Q182Q|DDB2_uc001neg.2_Silent_p.Q244Q|DDB2_uc001neh.2_RNA	p.Q385Q	NM_000107	NP_000098	Q92466	DDB2_HUMAN			8	1350	+			385					B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Silent	SNP	ENST00000256996.4	37	c.1155G>A	CCDS7927.1																																																																																				0.463	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_000107		18	70	0	0	0	1	0	18	70		
DDB2	1643	broad.mit.edu	37	11	47259526	47259526	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:47259526G>A	ENST00000256996.4	+	8	1357	c.1162G>A	c.(1162-1164)Gac>Aac	p.D388N	DDB2_ENST00000378601.3_3'UTR|ACP2_ENST00000525230.1_5'Flank|DDB2_ENST00000378600.3_Missense_Mutation_p.D199N|DDB2_ENST00000378603.3_Missense_Mutation_p.D324N	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	388					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						TCAGCTCTATGACCCAGAATC	0.463			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc001neb.2		NaN	yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	Mis|N	damage-specific DNA binding protein 2			E		skin basal cell|skin squamous cell|melanoma			0				kidney(2)|ovary(1)	3						c.(1162-1164)GAC>AAC	Direct_reversal_of_damage|NER	damage-specific DNA binding protein 2							102.0	89.0	93.0					11																	47259526		2201	4298	6499	SO:0001583	missense	1643	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding	g.chr11:47259526G>A		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"""WD repeat domain containing"""	2718	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group E protein"", ""UV-damaged DNA-binding protein 2"", ""DDB p48 subunit"""	600811	"""damage-specific DNA binding protein 2 (48kD)"""			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.1162G>A	11.37:g.47259526G>A	ENSP00000256996:p.Asp388Asn					DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Missense_Mutation_p.D324N|DDB2_uc001ned.2_RNA|DDB2_uc001nee.2_Missense_Mutation_p.D199N|DDB2_uc001nef.2_Missense_Mutation_p.D185N|DDB2_uc001neg.2_Missense_Mutation_p.D247N|DDB2_uc001neh.2_RNA	p.D388N	NM_000107	NP_000098	Q92466	DDB2_HUMAN			8	1357	+			388					B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Missense_Mutation	SNP	ENST00000256996.4	37	c.1162G>A	CCDS7927.1	.	.	.	.	.	.	.	.	.	.	G	36	5.764292	0.96906	.	.	ENSG00000134574	ENST00000256996;ENST00000378603;ENST00000378600	T;T;T	0.65364	-0.15;2.8;-0.04	5.94	5.94	0.96194	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80696	0.4672	M	0.77313	2.365	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.976;0.986;0.999	T	0.77239	-0.2661	10	0.35671	T	0.21	0.8302	20.3632	0.98871	0.0:0.0:1.0:0.0	.	324;199;388	Q92466-4;Q92466-2;Q92466	.;.;DDB2_HUMAN	N	388;324;199	ENSP00000256996:D388N;ENSP00000367866:D324N;ENSP00000367863:D199N	ENSP00000256996:D388N	D	+	1	0	DDB2	47216102	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.259000	0.95561	2.826000	0.97356	0.561000	0.74099	GAC		0.463	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_000107		17	63	0	0	0	1	0	17	63		
MYBPC3	4607	broad.mit.edu	37	11	47372904	47372904	+	Missense_Mutation	SNP	C	C	T	rs397515925		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:47372904C>T	ENST00000545968.1	-	2	232	c.178G>A	c.(178-180)Gag>Aag	p.E60K	MYBPC3_ENST00000256993.4_Missense_Mutation_p.E60K|MYBPC3_ENST00000399249.2_Missense_Mutation_p.E60K	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	60					cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CGTGTGCCCTCTGTGGCCAGG	0.632																																						uc001nfa.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(178-180)GAG>AAG		myosin binding protein C, cardiac							41.0	45.0	44.0					11																	47372904		2195	4288	6483	SO:0001583	missense	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47372904C>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.178G>A	11.37:g.47372904C>T	ENSP00000442795:p.Glu60Lys						p.E60K	NM_000256	NP_000247	Q14896	MYPC3_HUMAN		Lung(87;0.176)	2	233	-			60					A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.178G>A	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062570	0.76187	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.67171	-0.25;-0.25;-0.25	4.27	4.27	0.50696	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74496	0.3724	L	0.54908	1.71	0.80722	D	1	D	0.56968	0.978	P	0.57911	0.829	T	0.75548	-0.3279	9	0.42905	T	0.14	.	16.8841	0.86071	0.0:1.0:0.0:0.0	.	60	Q14896	MYPC3_HUMAN	K	60	ENSP00000442795:E60K;ENSP00000382193:E60K;ENSP00000256993:E60K	ENSP00000256993:E60K	E	-	1	0	MYBPC3	47329480	0.997000	0.39634	0.899000	0.35326	0.010000	0.07245	3.669000	0.54561	2.218000	0.71995	0.467000	0.42956	GAG		0.632	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3				3	21	0	0	0	1	0	3	21		
PTPRJ	5795	broad.mit.edu	37	11	48161324	48161324	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:48161324C>T	ENST00000418331.2	+	11	2791	c.2439C>T	c.(2437-2439)atC>atT	p.I813I		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	813	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CTACTGGCATCACAGGTGGGC	0.542																																						uc001ngp.3		NaN																	0				breast(3)|kidney(3)|ovary(1)|skin(1)	8						c.(2437-2439)ATC>ATT		protein tyrosine phosphatase, receptor type, J							32.0	29.0	30.0					11																	48161324		2201	4298	6499	SO:0001819	synonymous_variant	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48161324C>T	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.2439C>T	11.37:g.48161324C>T						PTPRJ_uc010rhr.1_Silent_p.I258I	p.I813I	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN			11	2794	+			813			Extracellular (Potential).		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	ENST00000418331.2	37	c.2439C>T	CCDS7945.1																																																																																				0.542	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1				10	27	0	0	0	1	0	10	27		
TRIM48	79097	broad.mit.edu	37	11	55032749	55032749	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:55032749C>T	ENST00000417545.2	+	2	504	c.418C>T	c.(418-420)Cac>Tac	p.H140Y		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	124						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GCACCGGTATCACAGACACTG	0.507																																						uc010rid.1		NaN																	0					0						c.(418-420)CAC>TAC		tripartite motif-containing 48							47.0	44.0	45.0					11																	55032749		2188	4261	6449	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55032749C>T	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.418C>T	11.37:g.55032749C>T	ENSP00000402414:p.His140Tyr						p.H140Y	NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN			2	504	+			124			B box-type.		Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.418C>T	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	c	13.33	2.203672	0.38905	.	.	ENSG00000150244	ENST00000417545	D	0.86366	-2.11	0.596	0.596	0.17496	Zinc finger, B-box (3);	.	.	.	.	D	0.93281	0.7859	M	0.91920	3.255	0.23238	N	0.998069	D	0.89917	1.0	D	0.91635	0.999	T	0.83086	-0.0135	9	0.62326	D	0.03	.	7.1377	0.25537	0.0:0.9999:0.0:1.0E-4	.	124	Q8IWZ4	TRI48_HUMAN	Y	140	ENSP00000402414:H140Y	ENSP00000402414:H140Y	H	+	1	0	TRIM48	54789325	0.838000	0.29461	0.202000	0.23494	0.082000	0.17680	3.316000	0.51960	0.629000	0.30376	0.413000	0.27773	CAC		0.507	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1				25	34	0	0	0	1	0	25	34		
OR4C15	81309	broad.mit.edu	37	11	55321997	55321997	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:55321997A>T	ENST00000314644.2	+	1	215	c.215A>T	c.(214-216)aAt>aTt	p.N72I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTTTCACAGAATCCAAATGTT	0.398										HNSCC(20;0.049)																												uc010rig.1		NaN																	0				ovary(1)|skin(1)	2						c.(214-216)AAT>ATT		olfactory receptor, family 4, subfamily C,							123.0	126.0	125.0					11																	55321997		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55321997A>T	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.215A>T	11.37:g.55321997A>T	ENSP00000324958:p.Asn72Ile	HNSCC(20;0.049)					p.N72I	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	215	+			18			Extracellular (Potential).		Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.215A>T	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	A	11.12	1.546492	0.27652	.	.	ENSG00000181939	ENST00000314644	T	0.01084	5.36	5.12	3.96	0.45880	.	.	.	.	.	T	0.01905	0.0060	L	0.48174	1.505	0.09310	N	1	B	0.21309	0.054	B	0.31337	0.128	T	0.40384	-0.9566	9	0.72032	D	0.01	.	9.2244	0.37398	0.9128:0.0:0.0872:0.0	.	18	Q8NGM1	OR4CF_HUMAN	I	72	ENSP00000324958:N72I	ENSP00000324958:N72I	N	+	2	0	OR4C15	55078573	0.000000	0.05858	0.806000	0.32338	0.590000	0.36582	-0.941000	0.03925	0.938000	0.37419	0.317000	0.21355	AAT		0.398	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1		NM_001001920		35	96	0	0	0	1	0	35	96		
OR4C16	219428	broad.mit.edu	37	11	55340229	55340229	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:55340229A>C	ENST00000314634.3	+	1	626	c.626A>C	c.(625-627)tAt>tCt	p.Y209S		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GCAGTGAGTTATGTCATGCTA	0.433																																						uc010rih.1		NaN																	0				ovary(1)|skin(1)	2						c.(625-627)TAT>TCT		olfactory receptor, family 4, subfamily C,							118.0	102.0	107.0					11																	55340229		2201	4296	6497	SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55340229A>C	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.626A>C	11.37:g.55340229A>C	ENSP00000324913:p.Tyr209Ser						p.Y209S	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			1	626	+		all_epithelial(135;0.0748)	209			Helical; Name=5; (Potential).		Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	c.626A>C	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	A	5.821	0.335664	0.11013	.	.	ENSG00000181935	ENST00000314634	T	0.35973	1.28	4.98	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.089390	0.49916	D	0.000130	T	0.11196	0.0273	N	0.00436	-1.5	0.09310	N	1	B	0.16603	0.018	B	0.15052	0.012	T	0.21759	-1.0236	10	0.87932	D	0	.	9.377	0.38290	0.1606:0.0:0.0:0.8394	.	209	Q8NGL9	OR4CG_HUMAN	S	209	ENSP00000324913:Y209S	ENSP00000324913:Y209S	Y	+	2	0	OR4C16	55096805	0.000000	0.05858	0.359000	0.25824	0.232000	0.25224	0.204000	0.17335	0.922000	0.37019	-0.416000	0.06073	TAT		0.433	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1		NM_001004701		17	45	0	0	0	1	0	17	45		
OR8I2	120586	broad.mit.edu	37	11	55861684	55861684	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:55861684C>G	ENST00000302124.2	+	1	932	c.901C>G	c.(901-903)Ctg>Gtg	p.L301V		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AAATGCTCTTCTGAGAGTCAT	0.388																																						uc010rix.1		NaN																	0				breast(1)	1						c.(901-903)CTG>GTG		olfactory receptor, family 8, subfamily I,							26.0	26.0	26.0					11																	55861684		2200	4276	6476	SO:0001583	missense	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861684C>G	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.901C>G	11.37:g.55861684C>G	ENSP00000303864:p.Leu301Val						p.L301V	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			1	901	+	Esophageal squamous(21;0.00693)		301			Cytoplasmic (Potential).		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	c.901C>G	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	C	1.052	-0.675513	0.03378	.	.	ENSG00000172154	ENST00000302124	T	0.38560	1.13	4.0	-1.58	0.08479	.	0.639840	0.12105	U	0.499109	T	0.22044	0.0531	N	0.17474	0.49	0.09310	N	1	B	0.28880	0.226	B	0.28784	0.094	T	0.18903	-1.0322	10	0.66056	D	0.02	-0.5328	4.4913	0.11815	0.2068:0.4733:0.0:0.3199	.	301	Q8N0Y5	OR8I2_HUMAN	V	301	ENSP00000303864:L301V	ENSP00000303864:L301V	L	+	1	2	OR8I2	55618260	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-0.244000	0.08903	-0.021000	0.14009	0.447000	0.29281	CTG		0.388	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001003750		7	21	0	0	0	1	0	7	21		
OR8H3	390152	broad.mit.edu	37	11	55890712	55890712	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:55890712C>G	ENST00000313472.3	+	1	864	c.864C>G	c.(862-864)ctC>ctG	p.L288L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGAATCCACTCATTTATAGTC	0.363																																						uc001nii.1		NaN																	0				ovary(2)	2						c.(862-864)CTC>CTG		olfactory receptor, family 8, subfamily H,							97.0	101.0	100.0					11																	55890712		2201	4296	6497	SO:0001819	synonymous_variant	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890712C>G	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.864C>G	11.37:g.55890712C>G							p.L288L	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	864	+	Esophageal squamous(21;0.00693)		288			Helical; Name=7; (Potential).		Q6IFB7	Silent	SNP	ENST00000313472.3	37	c.864C>G	CCDS31519.1																																																																																				0.363	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1		NM_001005201		17	54	0	0	0	1	0	17	54		
OR8K3	219473	broad.mit.edu	37	11	56086160	56086160	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:56086160C>T	ENST00000312711.1	+	1	378	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ATGTGGCCATCTGTAACCCTC	0.413																																						uc010rjf.1		NaN																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(376-378)ATC>ATT		olfactory receptor, family 8, subfamily K,							121.0	113.0	116.0					11																	56086160		2201	4296	6497	SO:0001819	synonymous_variant	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56086160C>T	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.378C>T	11.37:g.56086160C>T							p.I126I	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			1	378	+	Esophageal squamous(21;0.00448)		126			Cytoplasmic (Potential).		Q6IFC4	Silent	SNP	ENST00000312711.1	37	c.378C>T	CCDS31527.1																																																																																				0.413	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1		NM_001005202		20	62	0	0	0	1	0	20	62		
APLNR	187	broad.mit.edu	37	11	57004286	57004286	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:57004286C>T	ENST00000606794.1	-	1	389	c.193G>A	c.(193-195)Gat>Aat	p.D65N		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	65					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						ATGAAGATATCAGCTGAGCGC	0.612																																						uc001njo.2		NaN																	0				lung(5)|ovary(1)	6						c.(193-195)GAT>AAT		apelin receptor							75.0	68.0	70.0					11																	57004286		2201	4296	6497	SO:0001583	missense	187					integral to plasma membrane	G-protein coupled receptor activity	g.chr11:57004286C>T	U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"""APJ (apelin) receptor"""	600052	"""angiotensin II receptor-like 1"""	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.193G>A	11.37:g.57004286C>T	ENSP00000475344:p.Asp65Asn					APLNR_uc001njn.3_RNA	p.D65N	NM_005161	NP_005152	P35414	APJ_HUMAN			1	642	-			65			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000606794.1	37	c.193G>A	CCDS7950.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981922	0.53827	.	.	ENSG00000134817	ENST00000257254;ENST00000444275	T	0.31510	1.49	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.35885	0.0947	N	0.25890	0.77	0.45046	D	0.998061	D	0.89917	1.0	D	0.75484	0.986	T	0.07731	-1.0757	10	0.02654	T	1	-32.3979	13.5485	0.61717	0.1559:0.8441:0.0:0.0	.	65	P35414	APJ_HUMAN	N	65;30	ENSP00000257254:D65N	ENSP00000257254:D65N	D	-	1	0	APLNR	56760862	0.998000	0.40836	0.993000	0.49108	0.794000	0.44872	3.720000	0.54933	2.486000	0.83907	0.561000	0.74099	GAT		0.612	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470575.1		NM_005161		20	59	0	0	0	1	0	20	59		
SMTNL1	219537	broad.mit.edu	37	11	57310770	57310770	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:57310770G>A	ENST00000399154.2	+	2	577	c.577G>A	c.(577-579)Gat>Aat	p.D193N	SMTNL1_ENST00000457912.1_Missense_Mutation_p.D237N|SMTNL1_ENST00000527972.1_Missense_Mutation_p.D219N			A8MU46	SMTL1_HUMAN	smoothelin-like 1	193	Glu-rich.				negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CAAGGAGCCCGATGGGAAAGA	0.557																																						uc009ymh.1		NaN																	0				ovary(1)	1						c.(709-711)GAT>AAT		smoothelin-like 1							44.0	46.0	46.0					11																	57310770		2096	4206	6302	SO:0001583	missense	219537							g.chr11:57310770G>A	BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"""calponin homology-associated smooth muscle protein"""	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.577G>A	11.37:g.57310770G>A	ENSP00000382108:p.Asp193Asn						p.D237N	NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN			2	709	+			219						Missense_Mutation	SNP	ENST00000399154.2	37	c.709G>A		.	.	.	.	.	.	.	.	.	.	G	11.54	1.670474	0.29693	.	.	ENSG00000214872	ENST00000457912;ENST00000527972;ENST00000399154	T;T;T	0.02606	4.23;4.23;4.23	4.42	2.51	0.30379	.	0.254221	0.20109	U	0.099060	T	0.02156	0.0067	N	0.24115	0.695	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.47262	-0.9131	10	0.20046	T	0.44	-0.5284	9.0187	0.36186	0.193:0.0:0.807:0.0	.	237	C9J621	.	N	237;219;193	ENSP00000406485:D237N;ENSP00000432651:D219N;ENSP00000382108:D193N	ENSP00000382108:D193N	D	+	1	0	SMTNL1	57067346	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	1.037000	0.30241	0.838000	0.34948	-0.244000	0.11960	GAT		0.557	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			XM_166203		23	45	0	0	0	1	0	23	45		
SMTNL1	219537	broad.mit.edu	37	11	57310839	57310839	+	Intron	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:57310839G>A	ENST00000399154.2	+	2	621				SMTNL1_ENST00000457912.1_Missense_Mutation_p.E260K|SMTNL1_ENST00000527972.1_Missense_Mutation_p.E242K			A8MU46	SMTL1_HUMAN	smoothelin-like 1						negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GGAGGATGCAGAGGAGGCAGT	0.567																																						uc009ymh.1		NaN																	0				ovary(1)	1						c.(778-780)GAG>AAG		smoothelin-like 1							34.0	37.0	36.0					11																	57310839		2122	4233	6355	SO:0001627	intron_variant	219537							g.chr11:57310839G>A	BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"""calponin homology-associated smooth muscle protein"""	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.621+25G>A	11.37:g.57310839G>A							p.E260K	NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN			2	778	+			242						Missense_Mutation	SNP	ENST00000399154.2	37	c.778G>A		.	.	.	.	.	.	.	.	.	.	G	1.892	-0.455149	0.04540	.	.	ENSG00000214872	ENST00000457912;ENST00000527972	D;D	0.92911	-3.13;-3.12	3.43	0.137	0.14787	.	.	.	.	.	T	0.78729	0.4329	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.64228	-0.6457	9	0.17369	T	0.5	.	4.9319	0.13921	0.4752:0.0:0.5248:0.0	.	260	C9J621	.	K	260;242	ENSP00000406485:E260K;ENSP00000432651:E242K	ENSP00000406485:E260K	E	+	1	0	SMTNL1	57067415	0.008000	0.16893	0.002000	0.10522	0.011000	0.07611	1.289000	0.33307	0.177000	0.19895	0.407000	0.27541	GAG		0.567	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			XM_166203		13	55	0	0	0	1	0	13	55		
SERPING1	710	broad.mit.edu	37	11	57373936	57373936	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:57373936C>T	ENST00000278407.4	+	6	1172	c.945C>T	c.(943-945)ttC>ttT	p.F315F	SERPING1_ENST00000378324.2_Silent_p.F263F|SERPING1_ENST00000378323.4_Silent_p.F320F|SERPING1_ENST00000340687.6_Silent_p.F315F|SERPING1_ENST00000403558.1_Silent_p.F358F	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	315				HFKNSVI -> QLQKLSY (in Ref. 19; AA sequence). {ECO:0000305}.	blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CCTTTCACTTCAAAAACTCAG	0.423																																						uc001nkp.1		NaN																	0				central_nervous_system(1)	1						c.(943-945)TTC>TTT		serpin peptidase inhibitor, clade G, member 1							132.0	129.0	130.0					11																	57373936		2201	4296	6497	SO:0001819	synonymous_variant	710	Hereditary_Angioedema			blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57373936C>T	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.945C>T	11.37:g.57373936C>T						SERPING1_uc001nkq.1_Silent_p.F315F|SERPING1_uc010rju.1_Silent_p.F263F|SERPING1_uc010rjv.1_Silent_p.F320F|SERPING1_uc001nkr.1_Silent_p.F315F|SERPING1_uc009ymi.1_Silent_p.F324F|SERPING1_uc009ymj.1_Silent_p.F315F|SERPING1_uc001nks.1_Silent_p.F6F	p.F315F	NM_000062	NP_000053	P05155	IC1_HUMAN			6	1136	+			315	HFKNSVI -> QLQKLSY (in Ref. 19; AA sequence).				A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Silent	SNP	ENST00000278407.4	37	c.945C>T	CCDS7962.1																																																																																				0.423	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1		NM_000062		29	97	0	0	0	1	0	29	97		
GLYAT	10249	broad.mit.edu	37	11	58477493	58477493	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:58477493C>T	ENST00000344743.3	-	6	778	c.637G>A	c.(637-639)Gag>Aag	p.E213K	GLYAT_ENST00000529732.1_Missense_Mutation_p.E213K	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	213					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GGGGTCCCCTCAGGCCCCAGG	0.537																																						uc001nnb.2		NaN																	0					0						c.(637-639)GAG>AAG		glycine-N-acyltransferase isoform a	Glycine(DB00145)						71.0	74.0	73.0					11																	58477493		2201	4295	6496	SO:0001583	missense	10249				acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	g.chr11:58477493C>T	AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.637G>A	11.37:g.58477493C>T	ENSP00000340200:p.Glu213Lys						p.E213K	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN			6	792	-		Breast(21;0.0044)|all_epithelial(135;0.0157)	213					O14833|Q96QK7	Missense_Mutation	SNP	ENST00000344743.3	37	c.637G>A	CCDS7970.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574225	0.28092	.	.	ENSG00000149124	ENST00000344743;ENST00000529732	T;T	0.18657	2.2;2.2	6.06	4.21	0.49690	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, C-terminal (1);	0.450454	0.25227	N	0.032194	T	0.29749	0.0743	M	0.86864	2.845	0.80722	D	1	B	0.23650	0.089	B	0.26969	0.075	T	0.05068	-1.0908	10	0.36615	T	0.2	-21.077	9.2745	0.37692	0.0:0.8356:0.0:0.1644	.	213	Q6IB77	GLYAT_HUMAN	K	213	ENSP00000340200:E213K;ENSP00000431688:E213K	ENSP00000340200:E213K	E	-	1	0	GLYAT	58234069	0.008000	0.16893	0.117000	0.21633	0.011000	0.07611	0.625000	0.24477	0.899000	0.36444	-0.145000	0.13849	GAG		0.537	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394593.1				19	82	0	0	0	1	0	19	82		
TMEM132A	54972	broad.mit.edu	37	11	60699265	60699265	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:60699265C>G	ENST00000453848.2	+	6	1279	c.1121C>G	c.(1120-1122)cCa>cGa	p.P374R	TMEM132A_ENST00000005286.4_Missense_Mutation_p.P375R			Q24JP5	T132A_HUMAN	transmembrane protein 132A	374						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTGGAGTACCCAGGCCAGGCC	0.577																																						uc001nqj.2		NaN																	0				skin(1)	1						c.(1120-1122)CCA>CGA		transmembrane protein 132A isoform b							100.0	102.0	101.0					11																	60699265		2203	4299	6502	SO:0001583	missense	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60699265C>G	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1121C>G	11.37:g.60699265C>G	ENSP00000405823:p.Pro374Arg					TMEM132A_uc001nqi.2_Missense_Mutation_p.P375R|TMEM132A_uc001nqk.2_Missense_Mutation_p.P387R|TMEM132A_uc001nql.1_Missense_Mutation_p.P387R|TMEM132A_uc001nqm.2_5'Flank	p.P374R	NM_178031	NP_821174	Q24JP5	T132A_HUMAN			6	1314	+			374			Extracellular (Potential).		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	c.1121C>G	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850241	0.71719	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	T;T	0.08984	3.03;3.03	4.61	4.61	0.57282	.	0.106561	0.39759	N	0.001262	T	0.18215	0.0437	L	0.42581	1.335	0.50171	D	0.999852	P;D;P;D	0.57257	0.883;0.979;0.928;0.973	B;P;P;P	0.56042	0.373;0.79;0.696;0.787	T	0.00749	-1.1582	10	0.87932	D	0	.	17.4561	0.87607	0.0:1.0:0.0:0.0	.	363;125;374;375	Q24JP5-3;Q24JP5-4;Q24JP5;Q24JP5-2	.;.;T132A_HUMAN;.	R	125;374;375	ENSP00000405823:P374R;ENSP00000005286:P375R	ENSP00000005286:P375R	P	+	2	0	TMEM132A	60455841	0.949000	0.32298	0.996000	0.52242	0.835000	0.47333	1.746000	0.38288	2.290000	0.77057	0.455000	0.32223	CCA		0.577	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1		NM_017870		36	114	0	0	0	1	0	36	114		
VWCE	220001	broad.mit.edu	37	11	61058812	61058812	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:61058812G>A	ENST00000335613.5	-	3	605	c.219C>T	c.(217-219)ttC>ttT	p.F73F		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	73	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCCCACAGCCGAAGGAGCAGA	0.642																																						uc001nra.2		NaN																	0				ovary(1)	1						c.(217-219)TTC>TTT		von Willebrand factor C and EGF domains							45.0	49.0	48.0					11																	61058812		2203	4299	6502	SO:0001819	synonymous_variant	220001					extracellular region	calcium ion binding	g.chr11:61058812G>A	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.219C>T	11.37:g.61058812G>A						VWCE_uc001nrb.2_RNA	p.F73F	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN			3	498	-			73			EGF-like 1.		A5PKV0|Q7Z7L6|Q86WK8	Silent	SNP	ENST00000335613.5	37	c.219C>T	CCDS8002.1																																																																																				0.642	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1		NM_152718		3	26	0	0	0	1	0	3	26		
RAB3IL1	5866	broad.mit.edu	37	11	61672247	61672247	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:61672247G>A	ENST00000394836.2	-	6	922	c.765C>T	c.(763-765)tgC>tgT	p.C255C	RAB3IL1_ENST00000301773.5_Silent_p.C229C	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	255					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						TGAAGTCCAGGCAGGGGCCCA	0.662																																						uc001nso.2		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(763-765)TGC>TGT		RAB3A interacting protein (rabin3)-like 1							26.0	26.0	26.0					11																	61672247		2199	4298	6497	SO:0001819	synonymous_variant	5866						protein binding	g.chr11:61672247G>A	AF084557	CCDS8014.1, CCDS60809.1	11q12.2	2008-02-01			ENSG00000167994	ENSG00000167994			9780	protein-coding gene	gene with protein product							Standard	NM_013401		Approved		uc001nso.4	Q8TBN0	OTTHUMG00000167524	ENST00000394836.2:c.765C>T	11.37:g.61672247G>A						RAB3IL1_uc001nsp.2_Silent_p.C229C	p.C255C	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN			6	923	-			255					Q86V32|Q9P1Q8	Silent	SNP	ENST00000394836.2	37	c.765C>T	CCDS8014.1																																																																																				0.662	RAB3IL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394917.1		NM_013401		3	23	0	0	0	1	0	3	23		
AHNAK	79026	broad.mit.edu	37	11	62293224	62293224	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62293224C>G	ENST00000378024.4	-	5	8939	c.8665G>C	c.(8665-8667)Gac>Cac	p.D2889H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2889					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGTGCCAGTCTGGACCCTGA	0.517																																						uc001ntl.2		NaN																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(8665-8667)GAC>CAC		AHNAK nucleoprotein isoform 1							196.0	199.0	198.0					11																	62293224		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62293224C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8665G>C	11.37:g.62293224C>G	ENSP00000367263:p.Asp2889His					AHNAK_uc001ntk.1_Intron	p.D2889H	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	8965	-		Melanoma(852;0.155)	2889					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.8665G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	16.50	3.139329	0.56936	.	.	ENSG00000124942	ENST00000378024	T	0.00995	5.46	3.58	3.58	0.41010	.	0.333957	0.21529	N	0.073066	T	0.07007	0.0178	H	0.96269	3.795	0.41720	D	0.989508	P	0.51537	0.946	P	0.55999	0.789	T	0.03051	-1.1078	10	0.59425	D	0.04	-7.5553	13.3552	0.60623	0.0:1.0:0.0:0.0	.	2889	Q09666	AHNK_HUMAN	H	2889	ENSP00000367263:D2889H	ENSP00000367263:D2889H	D	-	1	0	AHNAK	62049800	0.338000	0.24775	0.654000	0.29608	0.711000	0.40976	0.152000	0.16302	1.708000	0.51301	0.394000	0.25966	GAC		0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		82	258	0	0	0	1	0	82	258		
AHNAK	79026	broad.mit.edu	37	11	62293417	62293417	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62293417C>G	ENST00000378024.4	-	5	8746	c.8472G>C	c.(8470-8472)aaG>aaC	p.K2824N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2824					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTCTGGCATCTTAAACTTTG	0.428																																						uc001ntl.2		NaN																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(8470-8472)AAG>AAC		AHNAK nucleoprotein isoform 1							157.0	157.0	157.0					11																	62293417		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62293417C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8472G>C	11.37:g.62293417C>G	ENSP00000367263:p.Lys2824Asn					AHNAK_uc001ntk.1_Intron	p.K2824N	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	8772	-		Melanoma(852;0.155)	2824					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.8472G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	15.39	2.818239	0.50633	.	.	ENSG00000124942	ENST00000378024	T	0.01379	4.96	3.35	1.35	0.21983	.	.	.	.	.	T	0.06600	0.0169	M	0.83603	2.65	0.35780	D	0.821592	D	0.89917	1.0	D	0.87578	0.998	T	0.26573	-1.0099	9	0.32370	T	0.25	.	7.1436	0.25570	0.0:0.6941:0.0:0.3059	.	2824	Q09666	AHNK_HUMAN	N	2824	ENSP00000367263:K2824N	ENSP00000367263:K2824N	K	-	3	2	AHNAK	62049993	0.016000	0.18221	0.926000	0.36857	0.811000	0.45836	-0.827000	0.04424	0.053000	0.16036	0.298000	0.19748	AAG		0.428	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		37	128	0	0	0	1	0	37	128		
AHNAK	79026	broad.mit.edu	37	11	62294428	62294428	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62294428C>T	ENST00000378024.4	-	5	7735	c.7461G>A	c.(7459-7461)atG>atA	p.M2487I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2487					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCCTGATGTTCATATCTGGTA	0.478																																						uc001ntl.2		NaN																	0		p.M2487V(1)		ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(7459-7461)ATG>ATA		AHNAK nucleoprotein isoform 1							155.0	159.0	158.0					11																	62294428		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62294428C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7461G>A	11.37:g.62294428C>T	ENSP00000367263:p.Met2487Ile					AHNAK_uc001ntk.1_Intron	p.M2487I	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	7761	-		Melanoma(852;0.155)	2487					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.7461G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	0.010	-1.766875	0.00651	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.00616	6.2	4.36	-3.97	0.04094	.	.	.	.	.	T	0.00384	0.0012	N	0.03000	-0.44	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41270	-0.9518	9	0.23891	T	0.37	.	10.209	0.43131	0.6958:0.2301:0.0:0.0741	.	2487	Q09666	AHNK_HUMAN	I	576;2487	ENSP00000367263:M2487I	ENSP00000244934:M576I	M	-	3	0	AHNAK	62051004	0.500000	0.26091	0.003000	0.11579	0.008000	0.06430	-0.026000	0.12392	-0.708000	0.05015	-0.329000	0.08387	ATG		0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		75	165	0	0	0	1	0	75	165		
GANAB	23193	broad.mit.edu	37	11	62397394	62397394	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62397394C>T	ENST00000356638.3	-	14	1645	c.1629G>A	c.(1627-1629)atG>atA	p.M543I	GANAB_ENST00000534779.1_Missense_Mutation_p.M451I|GANAB_ENST00000346178.4_Missense_Mutation_p.M565I|GANAB_ENST00000540933.1_Missense_Mutation_p.M446I	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	543					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	ATGGTTCGTTCATGTCATTCC	0.537																																					Melanoma(23;1005 1074 15747 18937)	uc001nub.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1627-1629)ATG>ATA		neutral alpha-glucosidase AB isoform 2							105.0	92.0	96.0					11																	62397394		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62397394C>T	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1629G>A	11.37:g.62397394C>T	ENSP00000349053:p.Met543Ile					GANAB_uc001ntz.2_5'Flank|GANAB_uc001nua.2_Missense_Mutation_p.M565I|GANAB_uc001nuc.2_Missense_Mutation_p.M446I|GANAB_uc010rma.1_Missense_Mutation_p.M451I|GANAB_uc010rmb.1_Missense_Mutation_p.M429I	p.M543I	NM_198334	NP_938148	Q14697	GANAB_HUMAN			14	1662	-			543					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.1629G>A	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534775	0.85812	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14	4.99	4.99	0.66335	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97820	0.9284	H	0.98849	4.35	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.998	D	0.99035	1.0822	10	0.87932	D	0	-27.3628	15.8282	0.78730	0.0:1.0:0.0:0.0	.	429;451;543;565	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	I	565;543;451;446	ENSP00000340466:M565I;ENSP00000349053:M543I;ENSP00000435306:M451I;ENSP00000442962:M446I	ENSP00000340466:M565I	M	-	3	0	GANAB	62153970	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.612000	0.82975	2.612000	0.88384	0.655000	0.94253	ATG		0.537	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1		NM_198334		20	85	0	0	0	1	0	20	85		
INTS5	80789	broad.mit.edu	37	11	62416061	62416061	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62416061G>A	ENST00000330574.2	-	2	1543	c.1491C>T	c.(1489-1491)ctC>ctT	p.L497L	GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000540933.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	497					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GGTGCTGCCAGAGGAAGCGCT	0.602																																						uc001nud.2		NaN																	0				ovary(2)	2						c.(1489-1491)CTC>CTT		integrator complex subunit 5							94.0	90.0	92.0					11																	62416061		2202	4299	6501	SO:0001819	synonymous_variant	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62416061G>A	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1491C>T	11.37:g.62416061G>A						GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	p.L497L	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN			2	1544	-			497					Q8N6W5|Q9C0G5	Silent	SNP	ENST00000330574.2	37	c.1491C>T	CCDS8027.1																																																																																				0.602	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1		NM_030628		52	167	0	0	0	1	0	52	167		
UQCC3	790955	broad.mit.edu	37	11	62439326	62439326	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62439326G>A	ENST00000531323.1	+	2	652	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	C11orf83_ENST00000377953.3_Missense_Mutation_p.E37K|C11orf48_ENST00000431002.2_5'Flank|C11orf48_ENST00000532208.1_5'Flank|C11orf48_ENST00000354588.3_5'Flank			Q6UW78	CK083_HUMAN		37						extracellular region (GO:0005576)				cervix(1)|lung(1)|prostate(1)	3						GCGGAAGCAGGAAATGCTAAA	0.632																																						uc001nui.3		NaN																	0					0						c.(109-111)GAA>AAA		hypothetical protein LOC790955 precursor							28.0	34.0	32.0					11																	62439326		2056	4207	6263	SO:0001583	missense	790955					extracellular region		g.chr11:62439326G>A																												ENST00000531323.1:c.109G>A	11.37:g.62439326G>A	ENSP00000432692:p.Glu37Lys					C11orf48_uc001nue.2_5'Flank|C11orf48_uc001nuf.2_5'Flank|C11orf48_uc010rmd.1_5'Flank	p.E37K	NM_001085372	NP_001078841	Q6UW78	CK083_HUMAN			1	201	+			37					Q5FVD5	Missense_Mutation	SNP	ENST00000531323.1	37	c.109G>A	CCDS41658.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479849	0.26511	.	.	ENSG00000204922	ENST00000531323;ENST00000377953	.	.	.	4.95	1.57	0.23409	.	1.127830	0.06721	N	0.774955	T	0.23886	0.0578	.	.	.	0.09310	N	1	B	0.27732	0.187	B	0.27500	0.08	T	0.28202	-1.0051	8	0.37606	T	0.19	0.0231	3.3523	0.07156	0.2546:0.0:0.5448:0.2006	.	37	Q6UW78	CK083_HUMAN	K	37	.	ENSP00000367189:E37K	E	+	1	0	C11orf83	62195902	0.215000	0.23574	0.207000	0.23584	0.072000	0.16883	0.842000	0.27627	0.198000	0.20407	0.563000	0.77884	GAA		0.632	C11orf83-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394992.2				21	62	0	0	0	1	0	21	62		
HNRNPUL2	221092	broad.mit.edu	37	11	62483065	62483065	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62483065G>A	ENST00000301785.5	-	13	2262	c.2070C>T	c.(2068-2070)ttC>ttT	p.F690F	HNRNPUL2-BSCL2_ENST00000403734.2_Silent_p.F690F	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	690	Tyr-rich. {ECO:0000255}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						ATCGATCATAGAAATTACGGT	0.423																																						uc001nuw.2		NaN																	0					0						c.(2068-2070)TTC>TTT		heterogeneous nuclear ribonucleoprotein U-like							113.0	105.0	108.0					11																	62483065		1887	4112	5999	SO:0001819	synonymous_variant	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62483065G>A		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.2070C>T	11.37:g.62483065G>A						HNRNPUL2_uc001nuu.1_RNA	p.F690F	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN			13	2263	-			690			Tyr-rich.		Q8N3B3	Silent	SNP	ENST00000301785.5	37	c.2070C>T	CCDS41659.1																																																																																				0.423	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2		XM_495877		27	95	0	0	0	1	0	27	95		
NXF1	10482	broad.mit.edu	37	11	62563952	62563952	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62563952G>A	ENST00000532297.1	-	15	1895	c.1266C>T	c.(1264-1266)ttC>ttT	p.F422F	NXF1_ENST00000533048.1_5'UTR|NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000294172.2_Silent_p.F422F			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	422	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTGAGGAATGAAAGGAATGC	0.547																																						uc001nvf.1		NaN																	0				skin(3)	3						c.(1264-1266)TTC>TTT		nuclear RNA export factor 1 isoform 1							128.0	124.0	126.0					11																	62563952		2201	4299	6500	SO:0001819	synonymous_variant	10482				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	g.chr11:62563952G>A	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1266C>T	11.37:g.62563952G>A						NXF1_uc001nvg.1_3'UTR|NXF1_uc009yog.1_Silent_p.F465F	p.F422F	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN			14	1402	-			422			NTF2.		B4E269|Q99799|Q9UQL2	Silent	SNP	ENST00000532297.1	37	c.1266C>T	CCDS8037.1																																																																																				0.547	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2		NM_006362		31	135	0	0	0	1	0	31	135		
SLC22A25	387601	broad.mit.edu	37	11	62985102	62985102	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62985102G>T	ENST00000306494.6	-	3	611	c.612C>A	c.(610-612)ttC>ttA	p.F204L	SLC22A25_ENST00000403374.2_Missense_Mutation_p.F38L|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CCCCAGCCAAGAAGCGCAGGG	0.473																																						uc001nwr.1		NaN																	0				ovary(3)|skin(1)	4						c.(610-612)TTC>TTA		putative UST1-like organic anion transporter							69.0	61.0	64.0					11																	62985102		2201	4298	6499	SO:0001583	missense	387601				transmembrane transport	integral to membrane		g.chr11:62985102G>T	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.612C>A	11.37:g.62985102G>T	ENSP00000307443:p.Phe204Leu					SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Missense_Mutation_p.F204L	p.F204L	NM_199352	NP_955384	Q6T423	S22AP_HUMAN			3	612	-			204			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000306494.6	37	c.612C>A	CCDS31592.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462752	0.43736	.	.	ENSG00000196600	ENST00000306494;ENST00000403374	T;T	0.59906	0.27;0.23	3.2	2.27	0.28462	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.219310	0.39834	U	0.001255	T	0.70509	0.3232	M	0.81942	2.565	0.19575	N	0.999968	D;D	0.76494	0.999;0.995	D;P	0.71414	0.973;0.856	T	0.59423	-0.7457	10	0.48119	T	0.1	.	6.3377	0.21304	0.1493:0.0:0.8507:0.0	.	202;204	A4IF29;Q6T423	.;S22AP_HUMAN	L	204;38	ENSP00000307443:F204L;ENSP00000384208:F38L	ENSP00000307443:F204L	F	-	3	2	SLC22A25	62741678	1.000000	0.71417	0.011000	0.14972	0.034000	0.12701	2.599000	0.46231	0.350000	0.24002	-0.347000	0.07816	TTC		0.473	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3		NM_199352		10	46	1	0	1.58986e-06	1	1.63725e-06	10	46		
RTN3	10313	broad.mit.edu	37	11	63520033	63520033	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:63520033G>A	ENST00000377819.5	+	5	2947	c.2793G>A	c.(2791-2793)atG>atA	p.M931I	RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Missense_Mutation_p.M135I|RTN3_ENST00000537981.1_Missense_Mutation_p.M135I|RTN3_ENST00000356000.3_Missense_Mutation_p.M154I|RTN3_ENST00000540798.1_Missense_Mutation_p.M819I|RTN3_ENST00000339997.4_Missense_Mutation_p.M912I	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	931	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						ATAATTACATGAATGCTGCCA	0.423																																						uc001nxq.2		NaN																	0				ovary(1)	1						c.(2791-2793)ATG>ATA		reticulon 3 isoform b							181.0	174.0	176.0					11																	63520033		2201	4298	6499	SO:0001583	missense	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63520033G>A	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.2793G>A	11.37:g.63520033G>A	ENSP00000367050:p.Met931Ile					RTN3_uc001nxo.2_Missense_Mutation_p.M135I|RTN3_uc001nxm.2_Missense_Mutation_p.M154I|RTN3_uc001nxn.2_Missense_Mutation_p.M912I|RTN3_uc001nxp.2_Missense_Mutation_p.M135I|RTN3_uc009yov.2_Missense_Mutation_p.M819I|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	p.M931I	NM_201428	NP_958831	O95197	RTN3_HUMAN			5	2980	+			931			Reticulon.		B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	c.2793G>A	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170602	0.38315	.	.	ENSG00000133318	ENST00000341307;ENST00000356000;ENST00000542238;ENST00000377819;ENST00000339997;ENST00000540798;ENST00000537981	T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.34	4.42	0.53409	.	0.316276	0.33959	N	0.004398	T	0.23094	0.0558	N	0.14661	0.345	0.34218	D	0.675078	B;B;B;B;B;B	0.20887	0.049;0.034;0.008;0.01;0.027;0.018	B;B;B;B;B;B	0.20384	0.017;0.029;0.011;0.004;0.017;0.014	T	0.24941	-1.0146	10	0.21540	T	0.41	-0.3996	7.8081	0.29215	0.0863:0.1655:0.7482:0.0	.	819;931;135;135;912;154	F5H774;O95197;O95197-5;O95197-3;O95197-2;O95197-4	.;RTN3_HUMAN;.;.;.;.	I	135;154;161;931;912;819;135	ENSP00000340903:M135I;ENSP00000348279:M154I;ENSP00000437971:M161I;ENSP00000367050:M931I;ENSP00000344106:M912I;ENSP00000442733:M819I;ENSP00000440874:M135I	ENSP00000344106:M912I	M	+	3	0	RTN3	63276609	0.980000	0.34600	0.984000	0.44739	0.879000	0.50718	0.610000	0.24253	1.375000	0.46248	0.455000	0.32223	ATG		0.423	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1		NM_006054		39	117	0	0	0	1	0	39	117		
FERMT3	83706	broad.mit.edu	37	11	63978565	63978565	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:63978565G>A	ENST00000279227.5	+	4	531	c.436G>A	c.(436-438)Gag>Aag	p.E146K	FERMT3_ENST00000345728.5_Missense_Mutation_p.E146K	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	146					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CCGGGCTCCTGagaagaagga	0.617																																						uc001nyl.2		NaN																	0				ovary(1)	1						c.(436-438)GAG>AAG		fermitin family homolog 3 long form							11.0	12.0	11.0					11																	63978565		2190	4288	6478	SO:0001583	missense	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63978565G>A	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.436G>A	11.37:g.63978565G>A	ENSP00000279227:p.Glu146Lys					FERMT3_uc001nym.2_Missense_Mutation_p.E146K	p.E146K	NM_178443	NP_848537	Q86UX7	URP2_HUMAN			4	585	+			146					Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	c.436G>A	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296972	0.81025	.	.	ENSG00000149781	ENST00000544997;ENST00000345728;ENST00000279227	T;T;T	0.45276	1.48;0.9;0.91	3.84	3.84	0.44239	Band 4.1 domain (1);	0.000000	0.85682	D	0.000000	T	0.54870	0.1885	L	0.52126	1.63	0.58432	D	0.999999	P;D	0.63880	0.799;0.993	B;D	0.72625	0.289;0.978	T	0.50154	-0.8861	10	0.26408	T	0.33	-33.1895	13.6719	0.62430	0.0:0.0:1.0:0.0	.	146;146	Q86UX7-2;Q86UX7	.;URP2_HUMAN	K	146	ENSP00000445778:E146K;ENSP00000339950:E146K;ENSP00000279227:E146K	ENSP00000279227:E146K	E	+	1	0	FERMT3	63735141	1.000000	0.71417	0.982000	0.44146	0.937000	0.57800	6.765000	0.74965	1.885000	0.54596	0.485000	0.47835	GAG		0.617	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1		NM_031471		5	12	0	0	0	1	0	5	12		
PYGM	5837	broad.mit.edu	37	11	64514790	64514790	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:64514790G>A	ENST00000164139.3	-	18	2616	c.2218C>T	c.(2218-2220)Cgg>Tgg	p.R740W	RASGRP2_ENST00000377489.1_5'Flank|RASGRP2_ENST00000394430.1_5'Flank|RASGRP2_ENST00000354024.3_5'Flank|RASGRP2_ENST00000377497.3_5'Flank|PYGM_ENST00000377432.3_Missense_Mutation_p.R652W|RASGRP2_ENST00000377487.1_5'Flank	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	740					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATGACCTGCCGAAGCTCAGGA	0.567																																						uc001oax.3		NaN																	0				ovary(2)	2						c.(2218-2220)CGG>TGG		muscle glycogen phosphorylase isoform 1	Pyridoxal Phosphate(DB00114)						142.0	117.0	125.0					11																	64514790		2201	4297	6498	SO:0001583	missense	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64514790G>A		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.2218C>T	11.37:g.64514790G>A	ENSP00000164139:p.Arg740Trp					RASGRP2_uc009ypv.2_5'Flank|RASGRP2_uc009ypw.2_5'Flank|RASGRP2_uc001oaw.1_5'Flank|PYGM_uc001oay.3_Missense_Mutation_p.R652W	p.R740W	NM_005609	NP_005600	P11217	PYGM_HUMAN			18	3035	-			740					A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	c.2218C>T	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152815	0.57259	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.93953	-3.22;-3.32	4.62	2.64	0.31445	.	0.000000	0.42682	D	0.000666	D	0.96182	0.8755	M	0.87682	2.9	0.48040	D	0.999571	D;D	0.76494	0.999;0.996	D;P	0.66979	0.948;0.843	D	0.95399	0.8488	10	0.87932	D	0	-12.4393	10.2813	0.43541	0.0:0.0:0.4777:0.5223	.	652;740	A6NDY6;P11217	.;PYGM_HUMAN	W	652;740;721	ENSP00000366650:R652W;ENSP00000164139:R740W	ENSP00000164139:R740W	R	-	1	2	PYGM	64271366	0.002000	0.14202	0.187000	0.23214	0.797000	0.45037	0.933000	0.28897	0.503000	0.28060	0.462000	0.41574	CGG		0.567	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2		NM_005609		30	63	0	0	0	1	0	30	63		
NAALADL1	10004	broad.mit.edu	37	11	64821987	64821987	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:64821987G>A	ENST00000358658.3	-	5	854	c.827C>T	c.(826-828)tCc>tTc	p.S276F	NAALADL1_ENST00000356632.3_Missense_Mutation_p.S276F|NAALADL1_ENST00000355369.2_Missense_Mutation_p.S276F|NAALADL1_ENST00000355721.3_Missense_Mutation_p.S235F|NAALADL1_ENST00000340252.4_Missense_Mutation_p.S276F|NAALADL1_ENST00000339885.2_Missense_Mutation_p.S276F	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	276	NAALADase.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GGGAAATCCGGAGACATTGGC	0.597																																						uc001ocn.2		NaN																	0					0						c.(826-828)TCC>TTC		N-acetylated alpha-linked acidic							47.0	42.0	44.0					11																	64821987		2201	4297	6498	SO:0001583	missense	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64821987G>A	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.827C>T	11.37:g.64821987G>A	ENSP00000351484:p.Ser276Phe					NAALADL1_uc010rnw.1_5'UTR	p.S276F	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN			5	843	-			276			NAALADase.|Extracellular (Potential).		C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	c.827C>T	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.995799	0.35226	.	.	ENSG00000168060	ENST00000358658;ENST00000355369;ENST00000339885;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	4.7	2.61	0.31194	.	0.442793	0.23118	N	0.051733	T	0.48077	0.1480	M	0.82517	2.595	0.09310	N	1	B	0.31054	0.306	B	0.33392	0.163	T	0.48885	-0.8995	10	0.52906	T	0.07	-2.9045	6.6681	0.23054	0.0:0.186:0.593:0.221	.	276	Q9UQQ1	NALDL_HUMAN	F	276;276;276;276;276;235;276	ENSP00000351484:S276F;ENSP00000347530:S276F;ENSP00000340111:S276F;ENSP00000344244:S276F;ENSP00000347955:S235F;ENSP00000349045:S276F	ENSP00000340111:S276F	S	-	2	0	NAALADL1	64578563	0.052000	0.20516	0.002000	0.10522	0.911000	0.54048	2.400000	0.44504	1.172000	0.42781	0.655000	0.94253	TCC		0.597	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1		NM_005468		10	35	0	0	0	1	0	10	35		
SLC22A20	440044	broad.mit.edu	37	11	64985056	64985056	+	RNA	SNP	C	C	T	rs373076205		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:64985056C>T	ENST00000525437.1	+	0	569							A6NK97	S22AK_HUMAN	solute carrier family 22, member 20						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						CTGGCAGCTTCGGGGGCCGCC	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		11644	0.0		0.0	False		,,,				2504	0.001					uc010roc.1		NaN																	0				central_nervous_system(1)	1						c.(529-531)TCG>TTG		solute carrier family 22, member 20		C	LEU/SER	0,3884		0,0,1942	33.0	39.0	37.0		536	3.8	0.7	11		37	1,8269		0,1,4134	no	missense	SLC22A20	NM_001004326.4	145	0,1,6076	TT,TC,CC		0.0121,0.0,0.0082	benign	179/350	64985056	1,12153	1942	4135	6077			440044				ion transport	integral to membrane	transmembrane transporter activity	g.chr11:64985056C>T	DQ053017		11q13.1	2014-02-20			ENSG00000197847	ENSG00000197847		"""Solute carriers"""	29867	other	unknown		611696				15369770, 16478971	Standard	NM_001004326		Approved	Oat6, FLJ16331	uc021qlh.1	A6NK97	OTTHUMG00000165615		11.37:g.64985056C>T						SLC22A20_uc010rob.1_Missense_Mutation_p.S177L	p.S177L	NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN			3	533	+			177			Helical; (Potential).		B9EJB2|Q6ZN88	Missense_Mutation	SNP	ENST00000525437.1	37	c.530C>T																																																																																					0.602	SLC22A20-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000385336.1		NM_001004326		13	27	0	0	0	1	0	13	27		
SNX32	254122	broad.mit.edu	37	11	65618826	65618826	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:65618826C>T	ENST00000308342.6	+	8	1162	c.737C>T	c.(736-738)tCa>tTa	p.S246L		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	246					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		ATCCCTATCTCAGCTGCGCTG	0.562											OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ofr.2		NaN																	0					0						c.(736-738)TCA>TTA		sorting nexin 6B							80.0	72.0	75.0					11																	65618826		2201	4297	6498	SO:0001583	missense	254122				cell communication|protein transport		phosphatidylinositol binding	g.chr11:65618826C>T	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.737C>T	11.37:g.65618826C>T	ENSP00000310620:p.Ser246Leu		OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1085		p.S246L	NM_152760	NP_689973	Q86XE0	SNX32_HUMAN		READ - Rectum adenocarcinoma(159;0.171)	8	864	+			246					Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	37	c.737C>T	CCDS8113.2	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836286	0.91117	.	.	ENSG00000172803	ENST00000308342	T	0.36878	1.23	5.44	5.44	0.79542	Vps5 C-terminal (1);	0.307515	0.23879	N	0.043675	T	0.62732	0.2452	M	0.79258	2.445	0.51767	D	0.999931	D	0.76494	0.999	D	0.87578	0.998	T	0.65693	-0.6106	10	0.66056	D	0.02	-14.0782	16.7708	0.85537	0.0:1.0:0.0:0.0	.	246	Q86XE0	SNX32_HUMAN	L	246	ENSP00000310620:S246L	ENSP00000310620:S246L	S	+	2	0	SNX32	65375402	0.981000	0.34729	0.938000	0.37757	0.990000	0.78478	3.759000	0.55227	2.567000	0.86603	0.655000	0.94253	TCA		0.562	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3		NM_152760		14	40	0	0	0	1	0	14	40		
CATSPER1	117144	broad.mit.edu	37	11	65793777	65793777	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:65793777G>C	ENST00000312106.5	-	1	211	c.74C>G	c.(73-75)tCt>tGt	p.S25C		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	25					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TGATGAGTGAGAGCGAAAGAA	0.542																																						uc001ogt.2		NaN																	0				ovary(2)	2						c.(73-75)TCT>TGT		sperm-associated cation channel 1							202.0	148.0	167.0					11																	65793777		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65793777G>C	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.74C>G	11.37:g.65793777G>C	ENSP00000309052:p.Ser25Cys						p.S25C	NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN			1	212	-			25			Cytoplasmic (Potential).		Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.74C>G	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.670517	0.29693	.	.	ENSG00000175294	ENST00000312106	D	0.97710	-4.5	3.68	1.68	0.24146	.	0.780907	0.10513	N	0.665905	D	0.96482	0.8852	L	0.57536	1.79	0.09310	N	1	D	0.60160	0.987	P	0.48189	0.57	D	0.90760	0.4664	10	0.59425	D	0.04	-23.972	8.3134	0.32084	0.0:0.0:0.5693:0.4307	.	25	Q8NEC5	CTSR1_HUMAN	C	25	ENSP00000309052:S25C	ENSP00000309052:S25C	S	-	2	0	CATSPER1	65550353	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.727000	0.04931	0.473000	0.27368	-0.182000	0.12963	TCT		0.542	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1		NM_053054		33	132	0	0	0	1	0	33	132		
LRFN4	78999	broad.mit.edu	37	11	66627266	66627266	+	Missense_Mutation	SNP	C	C	G	rs371172656		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:66627266C>G	ENST00000309602.4	+	2	1751	c.1508C>G	c.(1507-1509)tCg>tGg	p.S503W	PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	503						integral component of membrane (GO:0016021)		p.S503L(1)		breast(1)|lung(1)|prostate(1)	3						CTGCCGGCCTCGCCCCTGTGC	0.701																																						uc001ojr.2		NaN																	1	Substitution - Missense(1)		breast(1)		0						c.(1507-1509)TCG>TGG		leucine rich repeat and fibronectin type III							29.0	24.0	25.0					11																	66627266		2189	4288	6477	SO:0001583	missense	78999					integral to membrane		g.chr11:66627266C>G	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1508C>G	11.37:g.66627266C>G	ENSP00000312535:p.Ser503Trp					PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron	p.S503W	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN			2	1848	+			503			Extracellular (Potential).		Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Missense_Mutation	SNP	ENST00000309602.4	37	c.1508C>G	CCDS8153.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.884476	0.33255	.	.	ENSG00000173621	ENST00000309602	T	0.50548	0.74	4.71	1.25	0.21368	.	1.063610	0.07401	N	0.890794	T	0.39911	0.1096	N	0.19112	0.55	0.21473	N	0.999671	P	0.40230	0.708	P	0.46796	0.527	T	0.36817	-0.9732	10	0.40728	T	0.16	.	7.4502	0.27234	0.0:0.5903:0.0:0.4096	.	503	Q6PJG9	LRFN4_HUMAN	W	503	ENSP00000312535:S503W	ENSP00000312535:S503W	S	+	2	0	LRFN4	66383842	0.000000	0.05858	0.116000	0.21606	0.482000	0.33219	0.375000	0.20518	0.430000	0.26230	0.462000	0.41574	TCG		0.701	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1		NM_024036		4	26	0	0	0	1	0	4	26		
NDUFV1	4723	broad.mit.edu	37	11	67379873	67379873	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:67379873G>A	ENST00000322776.6	+	10	1492	c.1339G>A	c.(1339-1341)Gag>Aag	p.E447K	NDUFV1_ENST00000415352.2_Missense_Mutation_p.E440K|DOC2GP_ENST00000495263.1_RNA|NDUFV1_ENST00000529927.1_Missense_Mutation_p.E438K|NDUFV1_ENST00000532303.1_Missense_Mutation_p.E346K	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	447					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						GCCGGAGCTCGAGGAGCGGAT	0.632																																						uc001omj.2		NaN																	0				skin(1)	1						c.(1339-1341)GAG>AAG		NADH dehydrogenase ubiquinone flavoprotein 1	NADH(DB00157)						29.0	32.0	31.0					11																	67379873		2200	4293	6493	SO:0001583	missense	4723				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr11:67379873G>A	AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7716	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"""	161015	"""NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"""			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.1339G>A	11.37:g.67379873G>A	ENSP00000322450:p.Glu447Lys					NDUFV1_uc010rpv.1_Missense_Mutation_p.E346K|NDUFV1_uc001oml.2_Missense_Mutation_p.E440K|NDUFV1_uc001omk.3_Missense_Mutation_p.E438K|NDUFV1_uc010rpw.1_Missense_Mutation_p.E156K	p.E447K	NM_007103	NP_009034	P49821	NDUV1_HUMAN			10	1492	+			447					O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Missense_Mutation	SNP	ENST00000322776.6	37	c.1339G>A	CCDS8173.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936707	0.73557	.	.	ENSG00000167792	ENST00000322776;ENST00000532303;ENST00000529927;ENST00000415352;ENST00000453836	D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.95865	0.8654	H	0.94462	3.54	0.80722	D	1	B;B;D	0.65815	0.393;0.393;0.995	B;B;P	0.58130	0.345;0.345;0.833	D	0.96886	0.9649	10	0.72032	D	0.01	-28.4309	15.3619	0.74483	0.0:0.0:1.0:0.0	.	440;438;447	G3V0I5;P49821-2;P49821	.;.;NDUV1_HUMAN	K	447;346;438;440;318	ENSP00000322450:E447K;ENSP00000432015:E346K;ENSP00000436766:E438K;ENSP00000395368:E440K	ENSP00000322450:E447K	E	+	1	0	NDUFV1	67136449	1.000000	0.71417	0.960000	0.40013	0.929000	0.56500	7.692000	0.84203	2.389000	0.81357	0.561000	0.74099	GAG		0.632	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388406.1		NM_007103		12	47	0	0	0	1	0	12	47		
TBX10	347853	broad.mit.edu	37	11	67402490	67402490	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:67402490C>T	ENST00000335385.3	-	2	339	c.252G>A	c.(250-252)gaG>gaA	p.E84E		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	84					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						TGACGATCATCTCAGTGCCCA	0.647																																						uc001omp.2		NaN																	0					0						c.(250-252)GAG>GAA		T-box 10							48.0	43.0	45.0					11																	67402490		2200	4294	6494	SO:0001819	synonymous_variant	347853				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:67402490C>T	AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"""T-boxes"""	11593	protein-coding gene	gene with protein product		604648	"""T-box 7"""	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.252G>A	11.37:g.67402490C>T							p.E84E	NM_005995	NP_005986	O75333	TBX10_HUMAN			2	340	-			84			T-box.		Q14D64|Q86XS3	Silent	SNP	ENST00000335385.3	37	c.252G>A	CCDS31621.1																																																																																				0.647	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394034.1		NM_005995		26	45	0	0	0	1	0	26	45		
PDE2A	5138	broad.mit.edu	37	11	72294523	72294523	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:72294523G>A	ENST00000334456.5	-	20	1932	c.1687C>T	c.(1687-1689)Cgc>Tgc	p.R563C	RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000544570.1_Missense_Mutation_p.R556C|PDE2A_ENST00000418754.2_Missense_Mutation_p.R448C|PDE2A_ENST00000540345.1_Missense_Mutation_p.R554C|PDE2A_ENST00000376450.3_Missense_Mutation_p.R307C|PDE2A_ENST00000444035.2_Missense_Mutation_p.R554C	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	563					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	AGGTGGCTGCGATACTGAGCC	0.537																																						uc010rrc.1		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(1687-1689)CGC>TGC		phosphodiesterase 2A isoform 1	Sildenafil(DB00203)|Sulindac(DB00605)						153.0	141.0	145.0					11																	72294523		2200	4293	6493	SO:0001583	missense	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72294523G>A	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1687C>T	11.37:g.72294523G>A	ENSP00000334910:p.Arg563Cys					PDE2A_uc001oso.2_Missense_Mutation_p.R542C|PDE2A_uc010rra.1_Missense_Mutation_p.R556C|PDE2A_uc001osn.2_Missense_Mutation_p.R307C|PDE2A_uc010rrb.1_Missense_Mutation_p.R554C|PDE2A_uc010rrd.1_Missense_Mutation_p.R448C	p.R563C	NM_002599	NP_002590	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		20	1930	-			563					B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	c.1687C>T	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410535	0.83340	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000441209	T;T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	D	0.84397	0.5463	M	0.77313	2.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.992;0.997;0.993;0.997;0.997;0.994	D	0.86295	0.1676	10	0.87932	D	0	.	16.602	0.84818	0.0:0.0:1.0:0.0	.	448;563;554;556;563;307	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	C	563;307;554;632;556;448;554;104	ENSP00000334910:R563C;ENSP00000365633:R307C;ENSP00000411657:R554C;ENSP00000442256:R556C;ENSP00000410310:R448C;ENSP00000446399:R554C;ENSP00000392457:R104C	ENSP00000334910:R563C	R	-	1	0	PDE2A	71972171	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.777000	0.55364	2.524000	0.85096	0.561000	0.74099	CGC		0.537	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2		NM_002599		31	80	0	0	0	1	0	31	80		
ARAP1	116985	broad.mit.edu	37	11	72418254	72418254	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:72418254G>C	ENST00000393609.3	-	12	1891	c.1689C>G	c.(1687-1689)atC>atG	p.I563M	ARAP1_ENST00000359373.5_Missense_Mutation_p.I563M|ARAP1_ENST00000426523.1_Missense_Mutation_p.I318M|ARAP1_ENST00000429686.1_Missense_Mutation_p.I318M|ARAP1_ENST00000455638.2_Missense_Mutation_p.I563M|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000334211.8_Missense_Mutation_p.I318M|ARAP1_ENST00000393605.3_Missense_Mutation_p.I323M	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	563	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CACAGAGGTTGATGGAGGCCC	0.647																																					Ovarian(102;1198 1520 13195 17913 37529)	uc001osu.2		NaN																	0				skin(1)	1						c.(1687-1689)ATC>ATG		ArfGAP with RhoGAP domain, ankyrin repeat and PH							49.0	39.0	42.0					11																	72418254		2196	4292	6488	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72418254G>C	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.1689C>G	11.37:g.72418254G>C	ENSP00000377233:p.Ile563Met					ARAP1_uc001osv.2_Missense_Mutation_p.I563M|ARAP1_uc001osr.2_Missense_Mutation_p.I323M|ARAP1_uc001oss.2_Missense_Mutation_p.I318M|ARAP1_uc009yth.2_Missense_Mutation_p.I318M|ARAP1_uc010rre.1_Missense_Mutation_p.I318M	p.I563M	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN			12	1878	-			563			C4-type.|Arf-GAP.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.1689C>G	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177185	0.78564	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000340247	T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85	4.58	4.58	0.56647	.	0.063988	0.64402	D	0.000010	T	0.71117	0.3302	M	0.83223	2.63	0.37948	D	0.932564	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.987;0.998;0.997	T	0.79222	-0.1892	10	0.87932	D	0	.	16.1306	0.81436	0.0:0.0:1.0:0.0	.	318;318;563;563;323	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	M	563;563;323;318;563;318;318;352	ENSP00000352332:I563M;ENSP00000390461:I563M;ENSP00000377230:I323M;ENSP00000335506:I318M;ENSP00000377233:I563M;ENSP00000392264:I318M;ENSP00000403127:I318M	ENSP00000335506:I318M	I	-	3	3	ARAP1	72095902	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.842000	0.55858	2.392000	0.81423	0.650000	0.86243	ATC		0.647	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1		NM_001040118		5	22	0	0	0	1	0	5	22		
PRKRIR	5612	broad.mit.edu	37	11	76063335	76063335	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:76063335G>C	ENST00000260045.3	-	5	964	c.859C>G	c.(859-861)Cat>Gat	p.H287D	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	287					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CTTAGGTTATGAGATTCATCA	0.423																																						uc001oxh.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(859-861)CAT>GAT		protein-kinase, interferon-inducible double							25.0	26.0	26.0					11																	76063335		2188	4271	6459	SO:0001583	missense	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76063335G>C	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.859C>G	11.37:g.76063335G>C	ENSP00000260045:p.His287Asp					PRKRIR_uc010rrz.1_Missense_Mutation_p.H112D	p.H287D	NM_004705	NP_004696	O43422	P52K_HUMAN			5	859	-			287					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	c.859C>G	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	G	6.037	0.375218	0.11409	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	T;T	0.22336	1.96;1.96	5.04	5.04	0.67666	Ribonuclease H-like (1);	0.130721	0.64402	D	0.000002	T	0.15132	0.0365	N	0.24115	0.695	0.47245	D	0.999367	B	0.10296	0.003	B	0.08055	0.003	T	0.05146	-1.0903	10	0.30854	T	0.27	.	13.829	0.63368	0.0:0.0:0.8469:0.1531	.	287	O43422	P52K_HUMAN	D	112;287	ENSP00000436249:H112D;ENSP00000260045:H287D	ENSP00000260045:H287D	H	-	1	0	PRKRIR	75740983	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	6.487000	0.73633	2.551000	0.86045	0.644000	0.83932	CAT		0.423	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1		NM_004705		7	34	0	0	0	1	0	7	34		
PRKRIR	5612	broad.mit.edu	37	11	76063340	76063340	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:76063340T>C	ENST00000260045.3	-	5	959	c.854A>G	c.(853-855)gAa>gGa	p.E285G	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	285					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						GTTATGAGATTCATCAACAAA	0.428																																						uc001oxh.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(853-855)GAA>GGA		protein-kinase, interferon-inducible double							22.0	24.0	23.0					11																	76063340		2180	4256	6436	SO:0001583	missense	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76063340T>C	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.854A>G	11.37:g.76063340T>C	ENSP00000260045:p.Glu285Gly					PRKRIR_uc010rrz.1_Missense_Mutation_p.E110G	p.E285G	NM_004705	NP_004696	O43422	P52K_HUMAN			5	854	-			285					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	c.854A>G	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.388057	0.42308	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	T;T	0.22945	1.93;1.93	4.95	3.79	0.43588	Ribonuclease H-like (1);	0.343111	0.37530	N	0.002050	T	0.23886	0.0578	L	0.47716	1.5	0.34881	D	0.744562	B	0.17667	0.023	B	0.24541	0.054	T	0.18903	-1.0322	10	0.32370	T	0.25	.	12.0504	0.53503	0.0:0.0:0.1446:0.8554	.	285	O43422	P52K_HUMAN	G	110;285	ENSP00000436249:E110G;ENSP00000260045:E285G	ENSP00000260045:E285G	E	-	2	0	PRKRIR	75740988	1.000000	0.71417	0.659000	0.29680	0.962000	0.63368	7.377000	0.79668	0.839000	0.34971	0.472000	0.43445	GAA		0.428	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1		NM_004705		6	32	0	0	0	1	0	6	32		
PRKRIR	5612	broad.mit.edu	37	11	76063502	76063502	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:76063502G>C	ENST00000260045.3	-	5	797	c.692C>G	c.(691-693)tCa>tGa	p.S231*	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	231					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CTGTGTTTTTGAACAAAACAA	0.438																																						uc001oxh.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(691-693)TCA>TGA		protein-kinase, interferon-inducible double							21.0	21.0	21.0					11																	76063502		2156	4159	6315	SO:0001587	stop_gained	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76063502G>C	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.692C>G	11.37:g.76063502G>C	ENSP00000260045:p.Ser231*					PRKRIR_uc010rrz.1_Nonsense_Mutation_p.S56*	p.S231*	NM_004705	NP_004696	O43422	P52K_HUMAN			5	692	-			231					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Nonsense_Mutation	SNP	ENST00000260045.3	37	c.692C>G	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	G	58	32.293209	0.99980	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	.	.	.	4.92	3.98	0.46160	.	0.106815	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	15.5167	0.75830	0.0:0.1391:0.8608:0.0	.	.	.	.	X	56;231	.	ENSP00000260045:S231X	S	-	2	0	PRKRIR	75741150	1.000000	0.71417	0.705000	0.30386	0.992000	0.81027	4.944000	0.63561	1.210000	0.43336	0.478000	0.44815	TCA		0.438	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1		NM_004705		11	32	0	0	0	1	0	11	32		
NARS2	79731	broad.mit.edu	37	11	78177018	78177018	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:78177018C>T	ENST00000281038.5	-	11	1443	c.1068G>A	c.(1066-1068)gtG>gtA	p.V356V	NARS2_ENST00000528850.1_Silent_p.V129V	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	356					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CACAGTGCTTCACCAGGTACT	0.418																																						uc001ozi.2		NaN																	0				ovary(2)	2						c.(1066-1068)GTG>GTA		asparaginyl-tRNA synthetase 2, mitochondrial	L-Asparagine(DB00174)						152.0	144.0	147.0					11																	78177018		2200	4292	6492	SO:0001819	synonymous_variant	79731				asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr11:78177018C>T	BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.1068G>A	11.37:g.78177018C>T						NARS2_uc010rsq.1_Silent_p.V129V	p.V356V	NM_024678	NP_078954	Q96I59	SYNM_HUMAN			11	1444	-	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)		356					G3V178	Silent	SNP	ENST00000281038.5	37	c.1068G>A	CCDS8261.1																																																																																				0.418	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2		NM_024678		19	47	0	0	0	1	0	19	47		
DDIAS	220042	broad.mit.edu	37	11	82644076	82644076	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:82644076G>A	ENST00000533655.1	+	6	1908	c.1696G>A	c.(1696-1698)Gag>Aag	p.E566K	C11orf82_ENST00000430323.2_Missense_Mutation_p.E566K|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000329143.3_Missense_Mutation_p.E265K	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		566					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ACCACACAGGGAGAGTGACCA	0.338																																						uc001ozt.2		NaN																	0				ovary(2)	2						c.(1696-1698)GAG>AAG		nitric oxide-inducible gene protein							42.0	44.0	43.0					11																	82644076		2203	4298	6501	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82644076G>A																												ENST00000533655.1:c.1696G>A	11.37:g.82644076G>A	ENSP00000435421:p.Glu566Lys					C11orf82_uc010rsr.1_Missense_Mutation_p.E265K|C11orf82_uc010rss.1_Missense_Mutation_p.E265K|C11orf82_uc009yvd.2_Intron	p.E566K	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN			6	1940	+			566					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.1696G>A	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052409	0.36181	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	T;T;T	0.19394	2.43;2.43;2.15	5.46	3.58	0.41010	.	0.522633	0.19611	N	0.110133	T	0.18215	0.0437	L	0.57536	1.79	0.09310	N	1	B	0.26120	0.142	B	0.20577	0.03	T	0.17410	-1.0370	9	.	.	.	-0.7088	6.2121	0.20636	0.3425:0.0:0.6575:0.0	.	566	Q8IXT1	NOXIN_HUMAN	K	566;566;265	ENSP00000414687:E566K;ENSP00000435421:E566K;ENSP00000329930:E265K	.	E	+	1	0	C11orf82	82321724	0.015000	0.18098	0.699000	0.30290	0.448000	0.32197	2.151000	0.42263	0.847000	0.35167	0.655000	0.94253	GAG		0.338	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1				13	19	0	0	0	1	0	13	19		
DLG2	1740	broad.mit.edu	37	11	83173066	83173066	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:83173066C>T	ENST00000532653.1	-	22	2733	c.2431G>A	c.(2431-2433)Gaa>Aaa	p.E811K	DLG2_ENST00000280241.8_Missense_Mutation_p.E868K|DLG2_ENST00000543673.1_Missense_Mutation_p.E934K|DLG2_ENST00000404783.3_Missense_Mutation_p.E307K|DLG2_ENST00000418306.2_Missense_Mutation_p.E708K|DLG2_ENST00000426717.2_Missense_Mutation_p.E293K|DLG2_ENST00000330014.6_Missense_Mutation_p.E750K|DLG2_ENST00000524982.1_Missense_Mutation_p.E825K|DLG2_ENST00000376104.2_Missense_Mutation_p.E934K|DLG2_ENST00000531015.1_Missense_Mutation_p.E796K|DLG2_ENST00000537455.1_Missense_Mutation_p.E579K|DLG2_ENST00000376106.3_Missense_Mutation_p.E293K|DLG2_ENST00000398309.2_Missense_Mutation_p.E829K			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	535					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCTCCAAATTCTTGTTCTAGC	0.408																																						uc001paj.2		NaN																	0				ovary(3)|pancreas(2)|skin(1)	6						c.(2485-2487)GAA>AAA		chapsyn-110 isoform 2							162.0	153.0	156.0					11																	83173066		1866	4129	5995	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83173066C>T	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.2431G>A	11.37:g.83173066C>T	ENSP00000435849:p.Glu811Lys					DLG2_uc001pai.2_Missense_Mutation_p.E708K|DLG2_uc010rsy.1_Missense_Mutation_p.E778K|DLG2_uc010rsz.1_Missense_Mutation_p.E825K|DLG2_uc010rta.1_Missense_Mutation_p.E811K|DLG2_uc001pak.2_Missense_Mutation_p.E934K|DLG2_uc010rtb.1_Missense_Mutation_p.E796K|DLG2_uc010rsw.1_Missense_Mutation_p.E293K|DLG2_uc010rsx.1_Missense_Mutation_p.E306K	p.E829K	NM_001364	NP_001355	Q15700	DLG2_HUMAN			22	2788	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	829			Guanylate kinase-like.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.2485G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.293344	0.95546	.	.	ENSG00000150672	ENST00000398309;ENST00000426717;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000404783;ENST00000330014;ENST00000537455;ENST00000376106;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015	T;T;T;T;T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	4.87	4.87	0.63330	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.64402	D	0.000003	T	0.67335	0.2882	M	0.67397	2.05	0.80722	D	1	D;D;P;D;D;D;D;P	0.76494	0.971;0.999;0.614;0.989;0.979;0.997;0.97;0.855	P;D;B;D;P;D;D;P	0.76071	0.845;0.987;0.42;0.96;0.862;0.984;0.912;0.64	T	0.66999	-0.5781	9	.	.	.	.	18.1951	0.89818	0.0:1.0:0.0:0.0	.	796;811;825;750;307;934;829;708	E9PIW2;B7Z2T4;E9PN83;B7Z264;B5MCC5;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	K	829;293;934;708;934;868;307;750;579;293;825;811;934;796	ENSP00000381355:E829K;ENSP00000393049:E293K;ENSP00000365272:E934K;ENSP00000402275:E708K;ENSP00000441994:E934K;ENSP00000280241:E868K;ENSP00000385113:E307K;ENSP00000381353:E750K;ENSP00000443248:E579K;ENSP00000365274:E293K;ENSP00000432894:E825K;ENSP00000435849:E811K;ENSP00000433848:E796K	.	E	-	1	0	DLG2	82850714	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	7.317000	0.79018	2.514000	0.84764	0.655000	0.94253	GAA		0.408	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2		NM_001364		9	35	0	0	0	1	0	9	35		
DLG2	1740	broad.mit.edu	37	11	83195218	83195218	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:83195218G>C	ENST00000398309.2	-	17	2402	c.1932C>G	c.(1930-1932)ttC>ttG	p.F644L	DLG2_ENST00000280241.8_Missense_Mutation_p.F683L|DLG2_ENST00000543673.1_Missense_Mutation_p.F749L|DLG2_ENST00000404783.3_Intron|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000426717.2_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000330014.6_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000376104.2_Missense_Mutation_p.F749L|DLG2_ENST00000398304.1_Intron|DLG2_ENST00000531015.1_Missense_Mutation_p.F611L|DLG2_ENST00000537455.1_Intron|DLG2_ENST00000376106.3_Intron	NM_001364.3	NP_001355.2	Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	350					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGTTCTTGTAGAATGGGAATT	0.393																																						uc001paj.2		NaN																	0				ovary(3)|pancreas(2)|skin(1)	6						c.(1930-1932)TTC>TTG		chapsyn-110 isoform 2							123.0	126.0	125.0					11																	83195218		2195	4299	6494	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83195218G>C	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000398309.2:c.1932C>G	11.37:g.83195218G>C	ENSP00000381355:p.Phe644Leu					DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Intron|DLG2_uc010rsz.1_Intron|DLG2_uc010rta.1_Intron|DLG2_uc001pak.2_Missense_Mutation_p.F749L|DLG2_uc010rtb.1_Missense_Mutation_p.F611L|DLG2_uc010rsw.1_Intron|DLG2_uc010rsx.1_Intron	p.F644L	NM_001364	NP_001355	Q15700	DLG2_HUMAN			17	2235	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	644					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000398309.2	37	c.1932C>G	CCDS41696.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676293	0.47886	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000543673;ENST00000280241;ENST00000546021;ENST00000531015;ENST00000457267;ENST00000420775	T;T;T;T;T;T;T	0.56444	2.73;2.72;2.72;2.68;2.54;0.46;1.59	5.19	5.19	0.71726	Src homology-3 domain (1);	0.000000	0.64402	D	0.000002	T	0.69360	0.3102	M	0.75615	2.305	0.80722	D	1	B;P;B	0.49783	0.337;0.928;0.367	B;P;B	0.56865	0.031;0.808;0.023	T	0.69198	-0.5208	9	.	.	.	.	18.91	0.92479	0.0:0.0:1.0:0.0	.	611;749;644	E9PIW2;Q15700-2;Q15700	.;.;DLG2_HUMAN	L	644;749;749;683;749;611;13;126	ENSP00000381355:F644L;ENSP00000365272:F749L;ENSP00000441994:F749L;ENSP00000280241:F683L;ENSP00000433848:F611L;ENSP00000409133:F13L;ENSP00000391017:F126L	.	F	-	3	2	DLG2	82872866	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.430000	0.80321	2.699000	0.92147	0.591000	0.81541	TTC		0.393	DLG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259243.3		NM_001364		20	85	0	0	0	1	0	20	85		
CCDC89	220388	broad.mit.edu	37	11	85396921	85396921	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:85396921C>G	ENST00000316398.3	-	1	399	c.253G>C	c.(253-255)Gat>Cat	p.D85H	CREBZF_ENST00000534224.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	85						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGGGCCTCATCTGACCTCCGC	0.592																																						uc001pau.1		NaN																	0					0						c.(253-255)GAT>CAT		coiled-coil domain containing 89							66.0	57.0	60.0					11																	85396921		2203	4299	6502	SO:0001583	missense	220388					cytoplasm|nucleus		g.chr11:85396921C>G	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.253G>C	11.37:g.85396921C>G	ENSP00000320649:p.Asp85His						p.D85H	NM_152723	NP_689936	Q8N998	CCD89_HUMAN			1	400	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	85			Potential.			Missense_Mutation	SNP	ENST00000316398.3	37	c.253G>C	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292163	0.80914	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	U	0.000000	D	0.83216	0.5206	M	0.78049	2.395	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	T	0.82153	-0.0598	8	.	.	.	-13.2472	20.2963	0.98556	0.0:1.0:0.0:0.0	.	85	Q8N998	CCD89_HUMAN	H	85	.	.	D	-	1	0	CCDC89	85074569	0.998000	0.40836	0.475000	0.27278	0.993000	0.82548	5.238000	0.65366	2.813000	0.96785	0.655000	0.94253	GAT		0.592	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1		NM_152723		22	59	0	0	0	1	0	22	59		
CCDC67	159989	broad.mit.edu	37	11	93118581	93118581	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:93118581C>G	ENST00000298050.3	+	8	907	c.807C>G	c.(805-807)ctC>ctG	p.L269L	CCDC67_ENST00000525646.1_Silent_p.L11L	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	269					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AAGCAGGTCTCTCAGAGGTAA	0.313																																						uc001pdq.2		NaN																	0				ovary(1)	1						c.(805-807)CTC>CTG		coiled-coil domain containing 67							99.0	94.0	96.0					11																	93118581		1834	4095	5929	SO:0001819	synonymous_variant	159989							g.chr11:93118581C>G	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.807C>G	11.37:g.93118581C>G						CCDC67_uc001pdo.1_Silent_p.L269L|CCDC67_uc001pdp.2_Silent_p.L269L	p.L269L	NM_181645	NP_857596	Q05D60	CCD67_HUMAN			8	907	+		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)	269			Potential.		Q8NEF1|Q96LL7	Silent	SNP	ENST00000298050.3	37	c.807C>G	CCDS44707.1																																																																																				0.313	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_181645		8	36	0	0	0	1	0	8	36		
MTMR2	8898	broad.mit.edu	37	11	95590723	95590723	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:95590723C>T	ENST00000346299.5	-	7	987	c.647G>A	c.(646-648)aGa>aAa	p.R216K	MTMR2_ENST00000352297.7_Missense_Mutation_p.R144K|MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000409459.1_Missense_Mutation_p.R144K|MTMR2_ENST00000393223.3_Missense_Mutation_p.R144K	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	216	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACCTGCCTTCTATACTCTAA	0.338																																						uc001pfu.2		NaN																	0				pancreas(1)	1						c.(646-648)AGA>AAA		myotubularin-related protein 2 isoform 1							63.0	62.0	62.0					11																	95590723		2201	4295	6496	SO:0001583	missense	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95590723C>T	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.647G>A	11.37:g.95590723C>T	ENSP00000345752:p.Arg216Lys					MTMR2_uc001pfv.2_Missense_Mutation_p.R144K|MTMR2_uc001pfs.2_Missense_Mutation_p.R144K|MTMR2_uc001pft.2_Missense_Mutation_p.R144K|MTMR2_uc010ruj.1_Missense_Mutation_p.R199K	p.R216K	NM_016156	NP_057240	Q13614	MTMR2_HUMAN			7	900	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	216			Myotubularin phosphatase.		A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	37	c.647G>A	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	C	8.459	0.854872	0.17106	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541;ENST00000546018	D;D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02;-3.02	5.53	4.62	0.57501	Myotubularin phosphatase domain (1);	0.128766	0.64402	N	0.000001	T	0.76758	0.4032	N	0.03016	-0.435	0.41247	D	0.986684	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.71241	-0.4651	10	0.02654	T	1	.	10.3436	0.43893	0.0:0.8485:0.0:0.1515	.	216;216	A8K5G2;Q13614	.;MTMR2_HUMAN	K	216;144;144;144;144;199	ENSP00000345752:R216K;ENSP00000376915:R144K;ENSP00000386882:R144K;ENSP00000343737:R144K;ENSP00000396020:R144K	ENSP00000345752:R216K	R	-	2	0	MTMR2	95230371	1.000000	0.71417	0.986000	0.45419	0.714000	0.41099	1.691000	0.37721	1.467000	0.48044	0.563000	0.77884	AGA		0.338	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1		NM_016156		5	24	0	0	0	1	0	5	24		
MAML2	84441	broad.mit.edu	37	11	95826490	95826490	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:95826490C>G	ENST00000524717.1	-	2	1989	c.705G>C	c.(703-705)atG>atC	p.M235I		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	235					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GTGCTTGGCTCATAGGCAAGG	0.468			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	uc001pfw.1		NaN		Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	MECT1|CRTC3		salivary gland mucoepidermoid	CRTC1/MAML2(516)|CRTC3/MAML2(26)	0				salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546						c.(703-705)ATG>ATC		mastermind-like 2							118.0	115.0	116.0					11																	95826490		1945	4143	6088	SO:0001583	missense	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95826490C>G	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.705G>C	11.37:g.95826490C>G	ENSP00000434552:p.Met235Ile						p.M235I	NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN			2	1990	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	235					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.705G>C	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451478	0.26074	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.42513	0.97;0.97	5.42	2.38	0.29361	.	0.412228	0.24312	N	0.039629	T	0.27559	0.0677	L	0.43923	1.385	0.32459	N	0.544303	B	0.02656	0.0	B	0.04013	0.001	T	0.22173	-1.0224	10	0.18276	T	0.48	-0.2214	3.9969	0.09563	0.121:0.5082:0.2351:0.1358	.	235	Q8IZL2	MAML2_HUMAN	I	235	ENSP00000434552:M235I;ENSP00000412394:M235I	ENSP00000412394:M235I	M	-	3	0	MAML2	95466138	1.000000	0.71417	0.157000	0.22605	0.852000	0.48524	0.717000	0.25851	0.212000	0.20703	0.455000	0.32223	ATG		0.468	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1				15	56	0	0	0	1	0	15	56		
PGR	5241	broad.mit.edu	37	11	100998975	100998975	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:100998975G>A	ENST00000325455.5	-	1	2280	c.827C>T	c.(826-828)tCa>tTa	p.S276L	PGR_ENST00000263463.5_Missense_Mutation_p.S276L|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	276	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|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 positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CCTGGGCGCTGAGAAGCGGGA	0.731																																					Pancreas(124;2271 2354 21954 22882)	uc001pgh.2		NaN																	0				lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4						c.(826-828)TCA>TTA		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						7.0	9.0	8.0					11																	100998975		2118	4191	6309	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100998975G>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.827C>T	11.37:g.100998975G>A	ENSP00000325120:p.Ser276Leu					PGR_uc001pgi.2_Missense_Mutation_p.S276L|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	p.S276L	NM_000926	NP_000917	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	1	1570	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	276			Modulating, Pro-Rich.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.827C>T	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	9.328	1.059788	0.19987	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.07688	3.17;3.17	4.18	2.17	0.27698	.	1.295300	0.05431	N	0.545893	T	0.07052	0.0179	N	0.25426	0.745	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.10450	0.003;0.005	T	0.42832	-0.9428	10	0.30078	T	0.28	.	5.775	0.18273	0.2881:0.0:0.7119:0.0	.	276;276	Q8TDS3;P06401	.;PRGR_HUMAN	L	276	ENSP00000325120:S276L;ENSP00000263463:S276L	ENSP00000263463:S276L	S	-	2	0	PGR	100504185	0.000000	0.05858	0.001000	0.08648	0.485000	0.33311	0.250000	0.18235	0.198000	0.20407	0.556000	0.70494	TCA		0.731	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1				7	18	0	0	0	1	0	7	18		
TMEM123	114908	broad.mit.edu	37	11	102272716	102272716	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:102272716G>C	ENST00000398136.2	-	3	799	c.379C>G	c.(379-381)Cag>Gag	p.Q127E	TMEM123_ENST00000525577.1_5'UTR|TMEM123_ENST00000361236.3_Missense_Mutation_p.Q108E|TMEM123_ENST00000532161.1_Missense_Mutation_p.Q39E	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	127	Thr-rich.				oncosis (GO:0070267)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.Q127E(1)		breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		GTTGATATCTGAGATGTGTTC	0.388																																						uc001pha.2		NaN																	1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(379-381)CAG>GAG		transmembrane protein 123 precursor							430.0	392.0	404.0					11																	102272716		1986	4170	6156	SO:0001583	missense	114908				oncosis	external side of plasma membrane|integral to membrane	receptor activity	g.chr11:102272716G>C	AL050161	CCDS41702.1	11q22.1	2014-01-02			ENSG00000152558	ENSG00000152558			30138	protein-coding gene	gene with protein product	"""pro oncosis receptor inducing membrane injury gene"""	606356				11481458, 24318988	Standard	NM_052932		Approved	PORIMIN, KCT3	uc001pha.3	Q8N131	OTTHUMG00000167326	ENST00000398136.2:c.379C>G	11.37:g.102272716G>C	ENSP00000381204:p.Gln127Glu					TMEM123_uc009yxc.2_Missense_Mutation_p.Q108E	p.Q127E	NM_052932	NP_443164	Q8N131	PORIM_HUMAN	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)	3	800	-	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	127			Thr-rich.|Extracellular (Potential).		Q8IWS2|Q96QV2	Missense_Mutation	SNP	ENST00000398136.2	37	c.379C>G	CCDS41702.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296323	0.23650	.	.	ENSG00000152558	ENST00000361236;ENST00000398136;ENST00000532161;ENST00000528969	T;T;T;T	0.40225	1.04;1.97;1.04;1.04	5.44	3.49	0.39957	.	0.748572	0.12128	N	0.497086	T	0.35068	0.0919	L	0.38175	1.15	0.09310	N	1	P;P	0.50819	0.884;0.939	B;B	0.44278	0.256;0.445	T	0.07233	-1.0783	10	0.20519	T	0.43	-1.1383	11.0103	0.47659	0.0:0.0:0.6609:0.3391	.	108;127	Q8N131-2;Q8N131	.;PORIM_HUMAN	E	108;127;39;39	ENSP00000355285:Q108E;ENSP00000381204:Q127E;ENSP00000435331:Q39E;ENSP00000434976:Q39E	ENSP00000355285:Q108E	Q	-	1	0	TMEM123	101777926	0.011000	0.17503	0.078000	0.20375	0.067000	0.16453	1.206000	0.32321	0.711000	0.32018	0.563000	0.77884	CAG		0.388	TMEM123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394178.1		NM_052932		39	100	0	0	0	1	0	39	100		
MMP12	4321	broad.mit.edu	37	11	102742592	102742592	+	RNA	SNP	C	C	G	rs188003361		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:102742592C>G	ENST00000532855.1	-	0	537							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TGCTGAATTTCAAGGGGGTAA	0.418																																						uc001phk.2		NaN																	0					0						c.(439-441)TTG>TTC		matrix metalloproteinase 12 preproprotein	Acetohydroxamic Acid(DB00551)						78.0	77.0	77.0					11																	102742592		1893	4138	6031			4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102742592C>G	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102742592C>G							p.L147F	NM_002426	NP_002417	P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	3	486	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	147					B2R9X8|B7ZLF6|Q2M1L9	Missense_Mutation	SNP	ENST00000532855.1	37	c.441G>C																																																																																					0.418	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1		NM_002426		9	19	0	0	0	1	0	9	19		
MSANTD4	84437	broad.mit.edu	37	11	105880615	105880615	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:105880615C>T	ENST00000301919.4	-	3	2100	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	MSANTD4_ENST00000529805.1_5'Flank	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	229						nucleus (GO:0005634)											CGTTCCTTTTCTACCTGCAGC	0.463																																						uc001piy.2		NaN																	0				breast(1)	1						c.(685-687)GAA>AAA		hypothetical protein LOC84437							86.0	84.0	85.0					11																	105880615		2201	4299	6500	SO:0001583	missense	84437					nucleus		g.chr11:105880615C>T	AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"""KIAA1826"""	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.685G>A	11.37:g.105880615C>T	ENSP00000304713:p.Glu229Lys					KIAA1826_uc001piz.2_Missense_Mutation_p.E229K	p.E229K	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)	3	858	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	229			Potential.		Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	ENST00000301919.4	37	c.685G>A	CCDS31663.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.720097	0.68844	.	.	ENSG00000170903	ENST00000301919	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.71937	0.3399	L	0.32530	0.975	0.58432	D	0.999996	D	0.57571	0.98	D	0.68192	0.956	T	0.73319	-0.4020	9	0.62326	D	0.03	-27.4932	19.7099	0.96094	0.0:1.0:0.0:0.0	.	229	Q8NCY6	K1826_HUMAN	K	229	.	ENSP00000304713:E229K	E	-	1	0	KIAA1826	105385825	1.000000	0.71417	0.934000	0.37439	0.146000	0.21551	6.759000	0.74934	2.734000	0.93682	0.491000	0.48974	GAA		0.463	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388619.1		NM_032424		17	85	0	0	0	1	0	17	85		
GUCY1A2	2977	broad.mit.edu	37	11	106888480	106888480	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:106888480G>A	ENST00000526355.2	-	1	770	c.302C>T	c.(301-303)tCg>tTg	p.S101L	GUCY1A2_ENST00000282249.2_Splice_Site_p.S101L|GUCY1A2_ENST00000347596.2_Splice_Site_p.S101L	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	101					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	CCCGCTCACCGAGGGCGCCGT	0.756																																						uc001pjg.1		NaN																	0				large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8						c.(301-303)TCG>TTG		guanylate cyclase 1, soluble, alpha 2							4.0	5.0	5.0					11																	106888480		1241	2753	3994	SO:0001630	splice_region_variant	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106888480G>A	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.303+1C>T	11.37:g.106888480G>A						GUCY1A2_uc010rvo.1_Missense_Mutation_p.S101L|GUCY1A2_uc009yxn.1_Missense_Mutation_p.S101L	p.S101L	NM_000855	NP_000846	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	1	692	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	101					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.302C>T	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566313	0.27915	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.86562	-1.82;-2.14;-1.83	3.82	2.87	0.33458	.	.	.	.	.	T	0.69251	0.3090	N	0.02011	-0.69	0.36007	D	0.83782	B;B;B	0.10296	0.001;0.003;0.0	B;B;B	0.09377	0.001;0.004;0.0	T	0.65380	-0.6182	9	0.52906	T	0.07	.	10.7309	0.46096	0.0991:0.0:0.9009:0.0	.	101;101;101	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	L	101	ENSP00000431245:S101L;ENSP00000282249:S101L;ENSP00000344874:S101L	ENSP00000282249:S101L	S	-	2	0	GUCY1A2	106393690	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	3.716000	0.54904	0.522000	0.28464	0.407000	0.27541	TCG		0.756	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			Missense_Mutation	6	11	0	0	0	1	0	6	11		
ATM	472	broad.mit.edu	37	11	108192065	108192065	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:108192065G>C	ENST00000452508.2	+	46	6679	c.6490G>C	c.(6490-6492)Gag>Cag	p.E2164Q	ATM_ENST00000278616.4_Missense_Mutation_p.E2164Q|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2164	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.		E -> K (in T-prolymphocytic leukemia). {ECO:0000269|PubMed:9288106}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.E2164K(3)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GCGCAGCCTTGAGTCTGTGTA	0.413			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NaN	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		3	Substitution - Missense(3)	p.E2164K(1)	prostate(2)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(6490-6492)GAG>CAG	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							159.0	147.0	151.0					11																	108192065		2201	4298	6499	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108192065G>C	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.6490G>C	11.37:g.108192065G>C	ENSP00000388058:p.Glu2164Gln	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.E2164Q|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.E816Q|ATM_uc001pkg.1_Missense_Mutation_p.E521Q	p.E2164Q	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	45	6875	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2164		E -> K (in T-prolymphocytic leukemia).	FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.6490G>C	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	33	5.264699	0.95399	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.73469	-0.75;-0.75	5.83	5.83	0.93111	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85630	0.5741	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85287	0.1065	10	0.59425	D	0.04	.	20.1099	0.97909	0.0:0.0:1.0:0.0	.	2164	Q13315	ATM_HUMAN	Q	2164	ENSP00000278616:E2164Q;ENSP00000388058:E2164Q	ENSP00000278616:E2164Q	E	+	1	0	ATM	107697275	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.055000	0.93873	2.753000	0.94483	0.585000	0.79938	GAG		0.413	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1		NM_000051		29	119	0	0	0	1	0	29	119		
ATM	472	broad.mit.edu	37	11	108196791	108196791	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:108196791G>T	ENST00000452508.2	+	48	7003	c.6814G>T	c.(6814-6816)Gaa>Taa	p.E2272*	ATM_ENST00000278616.4_Nonsense_Mutation_p.E2272*|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2272	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TCAGCTCCCTGAAAGGGCAAT	0.358			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NaN	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240	GRCh37	CM030779	ATM	M		c.(6814-6816)GAA>TAA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							59.0	60.0	59.0					11																	108196791		2201	4298	6499	SO:0001587	stop_gained	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108196791G>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.6814G>T	11.37:g.108196791G>T	ENSP00000388058:p.Glu2272*	TSP Lung(14;0.12)				ATM_uc009yxr.1_Nonsense_Mutation_p.E2272*|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Nonsense_Mutation_p.E924*|ATM_uc001pkg.1_Nonsense_Mutation_p.E629*	p.E2272*	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	47	7199	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2272			FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	ENST00000452508.2	37	c.6814G>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	50	16.613366	0.99867	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	19.9399	0.97155	0.0:0.0:1.0:0.0	.	.	.	.	X	2272	.	ENSP00000278616:E2272X	E	+	1	0	ATM	107702001	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.376000	0.97181	2.792000	0.96026	0.557000	0.71058	GAA		0.358	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1		NM_000051		8	34	1	0	0.00621372	1	0.00626926	8	34		
EXPH5	23086	broad.mit.edu	37	11	108382527	108382527	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:108382527G>A	ENST00000265843.4	-	6	3817	c.3707C>T	c.(3706-3708)tCt>tTt	p.S1236F	EXPH5_ENST00000428840.1_Missense_Mutation_p.S1160F|EXPH5_ENST00000525344.1_Missense_Mutation_p.S1229F|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Missense_Mutation_p.S1048F	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1236			S -> A (in dbSNP:rs35520914).		intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ACCAGAAACAGAAAACGTACT	0.373																																						uc001pkk.2		NaN																	0				skin(3)|ovary(2)	5						c.(3706-3708)TCT>TTT		exophilin 5 isoform a							84.0	84.0	84.0					11																	108382527		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108382527G>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.3707C>T	11.37:g.108382527G>A	ENSP00000265843:p.Ser1236Phe					EXPH5_uc010rvy.1_Missense_Mutation_p.S1048F|EXPH5_uc010rvz.1_Missense_Mutation_p.S1080F|EXPH5_uc010rwa.1_Missense_Mutation_p.S1160F	p.S1236F	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	3818	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1236					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.3707C>T	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783131	0.70222	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.06218	3.95;3.87;3.73;3.95;3.77;3.33	5.85	5.85	0.93711	.	0.098440	0.44688	D	0.000422	T	0.25382	0.0617	M	0.67953	2.075	0.41700	D	0.989394	D	0.89917	1.0	D	0.76575	0.988	T	0.00052	-1.2191	10	0.72032	D	0.01	-18.6947	18.3382	0.90295	0.0:0.0:1.0:0.0	.	1236	Q8NEV8	EXPH5_HUMAN	F	1236;1160;1048;1229;1160;1048	ENSP00000265843:S1236F;ENSP00000391966:S1160F;ENSP00000411390:S1048F;ENSP00000432546:S1229F;ENSP00000432683:S1160F;ENSP00000446434:S1048F	ENSP00000265843:S1236F	S	-	2	0	EXPH5	107887737	1.000000	0.71417	0.997000	0.53966	0.383000	0.30230	6.069000	0.71209	2.767000	0.95098	0.655000	0.94253	TCT		0.373	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1		NM_015065		19	61	0	0	0	1	0	19	61		
DDX10	1662	broad.mit.edu	37	11	108547945	108547945	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:108547945C>A	ENST00000322536.3	+	4	641	c.512C>A	c.(511-513)tCa>tAa	p.S171*	DDX10_ENST00000526794.1_Nonsense_Mutation_p.S171*	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	171	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CATGACTTCTCAGCTGGTCTC	0.468			T	NUP98	AML*																																	uc001pkm.2		NaN		Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|lung(1)|prostate(1)	4						c.(511-513)TCA>TAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10							223.0	192.0	202.0					11																	108547945		2201	4298	6499	SO:0001587	stop_gained	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108547945C>A	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.512C>A	11.37:g.108547945C>A	ENSP00000314348:p.Ser171*					DDX10_uc001pkl.1_Nonsense_Mutation_p.S171*	p.S171*	NM_004398	NP_004389	Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	4	577	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	171			Helicase ATP-binding.		B2RCQ3|Q5BJD8	Nonsense_Mutation	SNP	ENST00000322536.3	37	c.512C>A	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	C	38	7.160735	0.98103	.	.	ENSG00000178105	ENST00000322536;ENST00000526794	.	.	.	5.87	5.87	0.94306	.	0.054091	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.219	20.2655	0.98459	0.0:1.0:0.0:0.0	.	.	.	.	X	171	.	ENSP00000314348:S171X	S	+	2	0	DDX10	108053155	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.758000	0.85224	2.799000	0.96334	0.505000	0.49811	TCA		0.468	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1		NM_004398		29	111	1	0	1.06801e-11	1	1.11821e-11	29	111		
DDX10	1662	broad.mit.edu	37	11	108811112	108811112	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:108811112G>A	ENST00000322536.3	+	18	2719	c.2590G>A	c.(2590-2592)Gaa>Aaa	p.E864K	DDX10_ENST00000534221.1_3'UTR	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	864					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AGCAGAGGATGAAGAGCTGGT	0.478			T	NUP98	AML*																																	uc001pkm.2		NaN		Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|lung(1)|prostate(1)	4						c.(2590-2592)GAA>AAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10							99.0	88.0	92.0					11																	108811112		2201	4298	6499	SO:0001583	missense	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108811112G>A	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2590G>A	11.37:g.108811112G>A	ENSP00000314348:p.Glu864Lys						p.E864K	NM_004398	NP_004389	Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	18	2655	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	864					B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	37	c.2590G>A	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717530	0.89205	.	.	ENSG00000178105	ENST00000322536;ENST00000456020	T	0.59364	0.27	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	M	0.68317	2.08	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.75739	-0.3212	10	0.87932	D	0	-23.3882	15.7188	0.77691	0.0:0.0:1.0:0.0	.	864	Q13206	DDX10_HUMAN	K	864;770	ENSP00000314348:E864K	ENSP00000314348:E864K	E	+	1	0	DDX10	108316322	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	7.376000	0.79658	2.780000	0.95670	0.655000	0.94253	GAA		0.478	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1		NM_004398		7	56	0	0	0	1	0	7	56		
C11orf1	64776	broad.mit.edu	37	11	111754506	111754506	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:111754506G>A	ENST00000260276.3	+	4	692	c.355G>A	c.(355-357)Gag>Aag	p.E119K	C11orf1_ENST00000530214.1_Silent_p.E96E|C11orf1_ENST00000529270.1_Missense_Mutation_p.E159K|C11orf1_ENST00000528125.1_Missense_Mutation_p.E73K	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	119						nucleus (GO:0005634)				kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		ATTTAAGCGAGAGCCTCACTG	0.393																																						uc001pmd.2		NaN																	0					0						c.(355-357)GAG>AAG		hypothetical protein LOC64776							94.0	94.0	94.0					11																	111754506		2201	4297	6498	SO:0001583	missense	64776					nucleus		g.chr11:111754506G>A	AJ250229	CCDS8350.1	11q23.1	2012-05-30			ENSG00000137720	ENSG00000137720			1163	protein-coding gene	gene with protein product						10873569	Standard	NM_022761		Approved	FLJ23499	uc001pmd.3	Q9H5F2	OTTHUMG00000166884	ENST00000260276.3:c.355G>A	11.37:g.111754506G>A	ENSP00000260276:p.Glu119Lys					C11orf1_uc001pme.2_Missense_Mutation_p.E159K	p.E119K	NM_022761	NP_073598	Q9H5F2	CK001_HUMAN		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)	4	692	+		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)	119					Q6I9X7|Q9NQC6	Missense_Mutation	SNP	ENST00000260276.3	37	c.355G>A	CCDS8350.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349607	0.61183	.	.	ENSG00000137720	ENST00000528125;ENST00000260276;ENST00000530799;ENST00000529270	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.37	3.43	0.39272	.	0.072630	0.52532	D	0.000072	T	0.22244	0.0536	L	0.38175	1.15	0.31817	N	0.626506	P;B	0.36753	0.568;0.126	B;B	0.36608	0.229;0.077	T	0.20773	-1.0265	10	0.40728	T	0.16	-13.1826	8.1381	0.31067	0.1377:0.1328:0.7294:0.0	.	159;119	E9PMC1;Q9H5F2	.;CK001_HUMAN	K	73;119;135;159	ENSP00000433224:E73K;ENSP00000260276:E119K;ENSP00000432128:E135K;ENSP00000431180:E159K	ENSP00000260276:E119K	E	+	1	0	C11orf1	111259716	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	2.765000	0.47621	1.457000	0.47850	0.650000	0.86243	GAG		0.393	C11orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391650.1		NM_022761		17	49	0	0	0	1	0	17	49		
DIXDC1	85458	broad.mit.edu	37	11	111888513	111888513	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:111888513G>A	ENST00000440460.2	+	20	2169	c.1872G>A	c.(1870-1872)gtG>gtA	p.V624V	DIXDC1_ENST00000315253.5_Silent_p.V413V|RP11-708L7.6_ENST00000530733.1_RNA|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	625	DIX. {ECO:0000255|PROSITE- ProRule:PRU00069}.				camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		TGGAGGAGGTGACGTTAAAGG	0.433																																						uc001pml.2		NaN																	0				ovary(1)	1						c.(1873-1875)GTG>GTA		DIX domain containing 1 isoform a							86.0	81.0	83.0					11																	111888513		1930	4139	6069	SO:0001819	synonymous_variant	85458				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity	g.chr11:111888513G>A	AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000440460.2:c.1872G>A	11.37:g.111888513G>A						DIXDC1_uc001pmm.2_Silent_p.V414V|DIXDC1_uc001pmn.2_Silent_p.V331V|DIXDC1_uc010rwq.1_Silent_p.V290V	p.V625V	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)	20	2172	+		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	625			DIX.		A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Silent	SNP	ENST00000440460.2	37	c.1875G>A																																																																																					0.433	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001037954		3	15	0	0	0	1	0	3	15		
ZW10	9183	broad.mit.edu	37	11	113631013	113631013	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:113631013G>C	ENST00000200135.3	-	5	642	c.498C>G	c.(496-498)ctC>ctG	p.L166L		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	166	Interaction with RINT1.				ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TCTGTATTGTGAGCTCCATGC	0.393																																						uc001poe.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(496-498)CTC>CTG		centromere/kinetochore protein zw10							145.0	129.0	134.0					11																	113631013		2201	4296	6497	SO:0001819	synonymous_variant	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113631013G>C	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.498C>G	11.37:g.113631013G>C						ZW10_uc009yyv.2_RNA	p.L166L	NM_004724	NP_004715	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	5	535	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	166			Interaction with RINT1.		A1A528	Silent	SNP	ENST00000200135.3	37	c.498C>G	CCDS8363.1																																																																																				0.393	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1		NM_004724		11	41	0	0	0	1	0	11	41		
NNMT	4837	broad.mit.edu	37	11	114168699	114168699	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:114168699G>A	ENST00000535401.1	+	4	445	c.181G>A	c.(181-183)Gac>Aac	p.D61N	RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000545255.1_5'Flank|NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000299964.3_Missense_Mutation_p.D61N|NNMT_ENST00000542647.1_5'Flank			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	61					methylation (GO:0032259)|organ regeneration (GO:0031100)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	nicotinamide N-methyltransferase activity (GO:0008112)			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CCTGCTGATTGACATCGGCTC	0.507																																						uc001por.1		NaN																	0				ovary(1)	1						c.(181-183)GAC>AAC		nicotinamide N-methyltransferase	Niacin(DB00627)						159.0	146.0	150.0					11																	114168699		2201	4296	6497	SO:0001583	missense	4837				xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	g.chr11:114168699G>A	U08021	CCDS8368.1	11q23.1	2007-08-15					2.1.1.1		7861	protein-coding gene	gene with protein product		600008				8575745	Standard	NM_006169		Approved		uc001pos.1	P40261		ENST00000535401.1:c.181G>A	11.37:g.114168699G>A	ENSP00000441434:p.Asp61Asn					NNMT_uc001pos.1_Missense_Mutation_p.D61N	p.D61N	NM_006169	NP_006160	P40261	NNMT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	4	445	+		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	61						Missense_Mutation	SNP	ENST00000535401.1	37	c.181G>A	CCDS8368.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864008	0.91511	.	.	ENSG00000166741	ENST00000535401;ENST00000299964	T;T	0.31510	1.49;1.49	5.34	3.43	0.39272	.	0.076536	0.48767	D	0.000171	T	0.48572	0.1507	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.41052	-0.9530	10	0.59425	D	0.04	-9.5925	9.0257	0.36227	0.0823:0.1486:0.7691:0.0	.	61	P40261	NNMT_HUMAN	N	61	ENSP00000441434:D61N;ENSP00000299964:D61N	ENSP00000299964:D61N	D	+	1	0	NNMT	113673909	1.000000	0.71417	0.922000	0.36590	0.983000	0.72400	6.546000	0.73887	0.609000	0.30018	0.563000	0.77884	GAC		0.507	NNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398951.1		NM_006169		15	85	0	0	0	1	0	15	85		
CEP164	22897	broad.mit.edu	37	11	117244524	117244524	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:117244524G>A	ENST00000278935.3	+	10	1357	c.1210G>A	c.(1210-1212)Gac>Aac	p.D404N	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	404					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CATAGCTTCTGACCCCAAGTC	0.498																																						uc001prc.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1210-1212)GAC>AAC		centrosomal protein 164kDa							158.0	131.0	140.0					11																	117244524		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117244524G>A	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.1210G>A	11.37:g.117244524G>A	ENSP00000278935:p.Asp404Asn					CEP164_uc001prb.2_Missense_Mutation_p.D404N|CEP164_uc010rxk.1_Missense_Mutation_p.D378N|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA	p.D404N	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	10	1357	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	404					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.1210G>A	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	9.504	1.103980	0.20632	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.59772	0.24	5.18	3.32	0.38043	.	0.659026	0.13981	N	0.349462	T	0.54515	0.1863	M	0.67953	2.075	0.21553	N	0.999646	D;B;B	0.53151	0.958;0.125;0.015	P;B;B	0.45343	0.477;0.037;0.027	T	0.41840	-0.9486	10	0.20046	T	0.44	-8.0761	8.0168	0.30385	0.1834:0.0:0.8166:0.0	.	378;404;404	E9PI34;Q9UPV0;Q9UPV0-2	.;CE164_HUMAN;.	N	404;378;331	ENSP00000278935:D404N	ENSP00000278935:D404N	D	+	1	0	CEP164	116749734	0.689000	0.27690	0.597000	0.28824	0.635000	0.38103	1.443000	0.35057	0.758000	0.33059	0.655000	0.94253	GAC		0.498	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1		NM_014956		24	54	0	0	0	1	0	24	54		
DSCAML1	57453	broad.mit.edu	37	11	117308767	117308767	+	Missense_Mutation	SNP	C	C	G	rs140883925		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:117308767C>G	ENST00000321322.6	-	25	4457	c.4456G>C	c.(4456-4458)Gag>Cag	p.E1486Q	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E1216Q	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1426	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TTCCACTCCTCGCTGTTGTCC	0.602																																						uc001prh.1		NaN																	0				ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(4456-4458)GAG>CAG		Down syndrome cell adhesion molecule like 1							95.0	71.0	79.0					11																	117308767		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117308767C>G		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4456G>C	11.37:g.117308767C>G	ENSP00000315465:p.Glu1486Gln						p.E1486Q	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	25	4458	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1426			Fibronectin type-III 5.|Extracellular (Potential).		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.4456G>C	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541259	0.85917	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.58060	0.36;0.36	4.17	4.17	0.49024	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65048	0.2654	L	0.43152	1.355	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.66913	-0.5803	9	0.49607	T	0.09	.	17.0825	0.86602	0.0:1.0:0.0:0.0	.	1426	Q8TD84	DSCL1_HUMAN	Q	1216;1486;1193	ENSP00000434335:E1216Q;ENSP00000315465:E1486Q	ENSP00000315465:E1486Q	E	-	1	0	DSCAML1	116813977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.571000	0.82399	2.313000	0.78055	0.549000	0.68633	GAG		0.602	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2		NM_020693		17	43	0	0	0	1	0	17	43		
TMPRSS4	56649	broad.mit.edu	37	11	117988106	117988106	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:117988106G>A	ENST00000437212.3	+	12	1453	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	TMPRSS4_ENST00000522824.1_Silent_p.P408P|TMPRSS4_ENST00000523251.1_Silent_p.P373P|TMPRSS4_ENST00000518413.2_3'UTR|TMPRSS4_ENST00000522307.1_Silent_p.P266P|TMPRSS4_ENST00000534111.1_Silent_p.P411P			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	413	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		GCGGGGGCCCGAGCACCCCAG	0.572																																						uc010rxo.1		NaN																	0				large_intestine(1)|central_nervous_system(1)	2						c.(1237-1239)CCG>CCA		transmembrane protease, serine 4 isoform 1							148.0	138.0	141.0					11																	117988106		2200	4296	6496	SO:0001819	synonymous_variant	56649				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117988106G>A	AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"""Serine peptidases / Transmembrane"""	11878	protein-coding gene	gene with protein product	"""transmembrane serine protease 3"", ""membrane-type serine protease 2"", ""type II membrane serine protease"""	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.1239G>A	11.37:g.117988106G>A						TMPRSS4_uc010rxp.1_Silent_p.P408P|TMPRSS4_uc010rxq.1_Silent_p.P266P|TMPRSS4_uc010rxr.1_Silent_p.P388P|TMPRSS4_uc010rxs.1_Silent_p.P373P|TMPRSS4_uc009yzu.2_RNA|TMPRSS4_uc010rxt.1_Silent_p.P388P	p.P413P	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)	12	1530	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)	413			Extracellular (Potential).|Peptidase S1.		A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Silent	SNP	ENST00000437212.3	37	c.1239G>A	CCDS31684.1																																																																																				0.572	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2		NM_019894		48	163	0	0	0	1	0	48	163		
ZNF202	7753	broad.mit.edu	37	11	123597521	123597521	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:123597521C>T	ENST00000529691.1	-	7	1350	c.1131G>A	c.(1129-1131)gtG>gtA	p.V377V	ZNF202_ENST00000530393.1_Silent_p.V377V|ZNF202_ENST00000336139.4_Silent_p.V377V			O95125	ZN202_HUMAN	zinc finger protein 202	377					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CAAAACTATTCACTTGAGAAA	0.433																																						uc001pzd.1		NaN																	0				ovary(1)	1						c.(1129-1131)GTG>GTA		zinc finger protein 202							89.0	96.0	94.0					11																	123597521		2202	4299	6501	SO:0001819	synonymous_variant	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123597521C>T	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.1131G>A	11.37:g.123597521C>T						ZNF202_uc001pzc.1_Silent_p.V153V|ZNF202_uc001pze.1_Silent_p.V377V|ZNF202_uc001pzf.1_Silent_p.V377V	p.V377V	NM_003455	NP_003446	O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	9	1531	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	377					B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Silent	SNP	ENST00000529691.1	37	c.1131G>A	CCDS8443.1																																																																																				0.433	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1		NM_003455		21	107	0	0	0	1	0	21	107		
ROBO4	54538	broad.mit.edu	37	11	124766975	124766975	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:124766975C>G	ENST00000306534.3	-	2	738	c.253G>C	c.(253-255)Gat>Cat	p.D85H	ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_Intron	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	85	Ig-like C2-type 1.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AGGGTCCCATCAGGCAGGAGG	0.657																																						uc001qbg.2		NaN																	0				ovary(1)|skin(1)	2						c.(253-255)GAT>CAT		roundabout homolog 4, magic roundabout							45.0	45.0	45.0					11																	124766975		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124766975C>G	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.253G>C	11.37:g.124766975C>G	ENSP00000304945:p.Asp85His					ROBO4_uc010sas.1_Intron|ROBO4_uc001qbh.2_Intron|ROBO4_uc010sat.1_5'Flank	p.D85H	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	2	393	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	85			Ig-like C2-type 1.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.253G>C	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546304	0.65198	.	.	ENSG00000154133	ENST00000306534	T	0.44482	0.92	5.59	3.7	0.42460	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.183949	0.26680	N	0.023060	T	0.48624	0.1510	L	0.49571	1.57	0.22858	N	0.998642	P	0.50819	0.939	P	0.55222	0.771	T	0.35051	-0.9804	10	0.56958	D	0.05	.	9.9524	0.41647	0.0:0.8362:0.0:0.1638	.	85	Q8WZ75	ROBO4_HUMAN	H	85	ENSP00000304945:D85H	ENSP00000304945:D85H	D	-	1	0	ROBO4	124272185	0.000000	0.05858	0.604000	0.28916	0.985000	0.73830	0.292000	0.19011	1.365000	0.46057	0.561000	0.74099	GAT		0.657	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1		NM_019055		7	31	0	0	0	1	0	7	31		
SRPR	6734	broad.mit.edu	37	11	126137185	126137185	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:126137185C>G	ENST00000332118.6	-	4	565	c.411G>C	c.(409-411)aaG>aaC	p.K137N	FOXRED1_ENST00000532125.1_5'Flank|FOXRED1_ENST00000442061.2_5'Flank|SRPR_ENST00000532259.1_Missense_Mutation_p.K109N|FOXRED1_ENST00000263578.5_5'Flank|SRPR_ENST00000530680.1_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	137					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CTTCAAATTTCTTCATGGTAG	0.418																																						uc001qdh.2		NaN																	0					0						c.(409-411)AAG>AAC		signal recognition particle receptor							160.0	160.0	160.0					11																	126137185		2201	4298	6499	SO:0001583	missense	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126137185C>G	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.411G>C	11.37:g.126137185C>G	ENSP00000328023:p.Lys137Asn					SRPR_uc010sbm.1_Missense_Mutation_p.K109N|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank	p.K137N	NM_003139	NP_003130	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	4	462	-	all_hematologic(175;0.145)		137					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	c.411G>C	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848981	0.71603	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	4.92	4.92	0.64577	Signal recognition particle receptor, alpha subunit, N-terminal (1);	0.047201	0.85682	D	0.000000	T	0.69015	0.3064	M	0.63843	1.955	0.58432	D	0.999998	P;B	0.49447	0.924;0.416	P;B	0.60473	0.875;0.285	T	0.70182	-0.4942	9	0.56958	D	0.05	-13.9691	11.7468	0.51825	0.0:0.9196:0.0:0.0804	.	109;137	E9PJS4;P08240	.;SRPR_HUMAN	N	137;109	.	ENSP00000328023:K137N	K	-	3	2	SRPR	125642395	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.885000	0.56182	2.546000	0.85860	0.305000	0.20034	AAG		0.418	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2		NM_003139		47	125	0	0	0	1	0	47	125		
FOXRED1	55572	broad.mit.edu	37	11	126142911	126142911	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:126142911G>A	ENST00000263578.5	+	3	428	c.354G>A	c.(352-354)caG>caA	p.Q118Q	FOXRED1_ENST00000532125.1_Silent_p.Q104Q|FOXRED1_ENST00000442061.2_5'UTR|FOXRED1_ENST00000534011.1_3'UTR	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	118						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		TTTGTCAGCAGTTCTCATTGC	0.483																																						uc001qdi.2		NaN																	0					0						c.(352-354)CAG>CAA		FAD-dependent oxidoreductase domain containing							175.0	159.0	164.0					11																	126142911		2201	4298	6499	SO:0001819	synonymous_variant	55572					integral to membrane|mitochondrion	oxidoreductase activity|protein binding	g.chr11:126142911G>A		CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	ENST00000263578.5:c.354G>A	11.37:g.126142911G>A						FOXRED1_uc010sbn.1_5'UTR|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_5'UTR|FOXRED1_uc010sbq.1_5'UTR|FOXRED1_uc001qdj.2_5'UTR|FOXRED1_uc010sbr.1_Silent_p.Q104Q|FOXRED1_uc001qdk.2_5'UTR	p.Q118Q	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)	3	401	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)	118					B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	Silent	SNP	ENST00000263578.5	37	c.354G>A	CCDS8471.1																																																																																				0.483	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386434.1		NM_017547		25	76	0	0	0	1	0	25	76		
NFRKB	4798	broad.mit.edu	37	11	129744722	129744722	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:129744722G>A	ENST00000446488.3	-	18	2047	c.1944C>T	c.(1942-1944)atC>atT	p.I648I	NFRKB_ENST00000304521.5_Silent_p.I648I|NFRKB_ENST00000524746.1_Silent_p.I648I|NFRKB_ENST00000524794.1_Silent_p.I673I	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	648					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GATGCAGGTAGATCCACAGCT	0.488																																						uc001qfi.2		NaN																	0				ovary(3)	3						c.(1942-1944)ATC>ATT		nuclear factor related to kappaB binding protein							221.0	184.0	197.0					11																	129744722		2201	4297	6498	SO:0001819	synonymous_variant	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129744722G>A		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.1944C>T	11.37:g.129744722G>A						NFRKB_uc001qfg.2_Silent_p.I673I|NFRKB_uc001qfh.2_Silent_p.I671I|NFRKB_uc010sbw.1_Silent_p.I658I|NFRKB_uc009zcr.2_5'UTR	p.I648I	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	19	2145	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	648					Q12869|Q15312|Q9H048	Silent	SNP	ENST00000446488.3	37	c.1944C>T	CCDS44770.1																																																																																				0.488	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2		NM_006165		45	147	0	0	0	1	0	45	147		
B3GAT1	27087	broad.mit.edu	37	11	134252640	134252640	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:134252640G>A	ENST00000524765.1	-	4	5426	c.882C>T	c.(880-882)ctC>ctT	p.L294L	B3GAT1_ENST00000392580.1_Silent_p.L294L|B3GAT1_ENST00000537389.1_Silent_p.L307L|B3GAT1_ENST00000531510.1_5'Flank|B3GAT1_ENST00000312527.4_Silent_p.L294L			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	294					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CCAGGTCGTTGAGGGTGACAA	0.572																																						uc001qhq.2		NaN																	0				ovary(1)	1						c.(880-882)CTC>CTT		beta-1,3-glucuronyltransferase 1							151.0	111.0	125.0					11																	134252640		2201	4297	6498	SO:0001819	synonymous_variant	27087				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr11:134252640G>A	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.882C>T	11.37:g.134252640G>A						B3GAT1_uc001qhr.2_Silent_p.L294L|B3GAT1_uc010scv.1_Silent_p.L307L	p.L294L	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)	5	1143	-	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)	294			Lumenal (Potential).		Q96FS7	Silent	SNP	ENST00000524765.1	37	c.882C>T	CCDS8500.1																																																																																				0.572	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1		NM_018644		15	64	0	0	0	1	0	15	64		
CCDC77	84318	broad.mit.edu	37	12	549890	549890	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:549890G>A	ENST00000239830.4	+	11	1328	c.1149G>A	c.(1147-1149)atG>atA	p.M383I	CCDC77_ENST00000422000.1_Missense_Mutation_p.M351I|CCDC77_ENST00000540180.1_Missense_Mutation_p.M351I|CCDC77_ENST00000412006.2_Missense_Mutation_p.M351I	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	383						centrosome (GO:0005813)|membrane (GO:0016020)				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			AAGAGGGAATGAGGAGAGAGA	0.438																																						uc001qig.2		NaN																	0				ovary(1)	1						c.(1147-1149)ATG>ATA		coiled-coil domain containing 77 isoform a							101.0	103.0	102.0					12																	549890		2203	4300	6503	SO:0001583	missense	84318					centrosome		g.chr12:549890G>A	AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.1149G>A	12.37:g.549890G>A	ENSP00000239830:p.Met383Ile					CCDC77_uc009zdk.2_Missense_Mutation_p.M351I|CCDC77_uc010sdp.1_Missense_Mutation_p.M351I|CCDC77_uc010sdq.1_Missense_Mutation_p.M351I	p.M383I	NM_032358	NP_115734	Q9BR77	CCD77_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)		11	1329	+	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		383			Potential.		B4DDE8	Missense_Mutation	SNP	ENST00000239830.4	37	c.1149G>A	CCDS8503.1	.	.	.	.	.	.	.	.	.	.	G	8.379	0.836976	0.16891	.	.	ENSG00000120647	ENST00000540180;ENST00000422000;ENST00000543504;ENST00000239830;ENST00000412006	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.38	1.54	0.23209	.	0.567361	0.18724	N	0.132929	T	0.19485	0.0468	L	0.34521	1.04	0.20074	N	0.999933	B	0.09022	0.002	B	0.04013	0.001	T	0.16748	-1.0392	10	0.37606	T	0.19	-0.8557	5.8719	0.18809	0.2822:0.0:0.588:0.1298	.	383	Q9BR77	CCD77_HUMAN	I	351;351;351;383;351	ENSP00000440554:M351I;ENSP00000391870:M351I;ENSP00000445873:M351I;ENSP00000239830:M383I;ENSP00000412925:M351I	ENSP00000239830:M383I	M	+	3	0	CCDC77	420151	0.996000	0.38824	0.076000	0.20297	0.762000	0.43233	0.290000	0.18975	0.017000	0.15025	0.563000	0.77884	ATG		0.438	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251296.1		NM_032358		12	45	0	0	0	1	0	12	45		
WNK1	65125	broad.mit.edu	37	12	1005785	1005785	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:1005785G>C	ENST00000315939.6	+	24	6775	c.6132G>C	c.(6130-6132)caG>caC	p.Q2044H	WNK1_ENST00000340908.4_Missense_Mutation_p.Q1637H|WNK1_ENST00000537687.1_Missense_Mutation_p.Q2304H|WNK1_ENST00000530271.2_Missense_Mutation_p.Q2542H|WNK1_ENST00000535572.1_Missense_Mutation_p.Q1796H	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2044					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTCCTAGCCAGAATCTAAGTC	0.463																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3		NaN																	0				stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(6130-6132)CAG>CAC		WNK lysine deficient protein kinase 1							49.0	49.0	49.0					12																	1005785		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:1005785G>C	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.6132G>C	12.37:g.1005785G>C	ENSP00000313059:p.Gln2044His					WNK1_uc001qip.3_Missense_Mutation_p.Q1796H|WNK1_uc001qir.3_Missense_Mutation_p.Q1217H	p.Q2044H	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		24	6639	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		2044					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.6132G>C	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	7.586	0.669661	0.14776	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.70399	-0.47;-0.45;-0.46;-0.48;0.71	5.93	3.17	0.36434	.	0.110508	0.41001	D	0.000963	T	0.76090	0.3939	L	0.56769	1.78	0.28096	N	0.931599	D;D;D	0.64830	0.994;0.994;0.989	P;P;P	0.62740	0.906;0.906;0.809	T	0.67496	-0.5656	10	0.42905	T	0.14	-7.4834	8.2465	0.31691	0.244:0.0:0.7559:0.0	.	1797;1796;2044	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	H	1796;2044;2304;1217;2542;1637	ENSP00000441972:Q1796H;ENSP00000313059:Q2044H;ENSP00000444465:Q2304H;ENSP00000433548:Q2542H;ENSP00000341292:Q1637H	ENSP00000252477:Q1217H	Q	+	3	2	WNK1	876046	0.998000	0.40836	0.743000	0.31040	0.940000	0.58332	1.430000	0.34914	0.430000	0.26230	-0.140000	0.14226	CAG		0.463	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1		NM_018979		12	41	0	0	0	1	0	12	41		
DCP1B	196513	broad.mit.edu	37	12	2113469	2113469	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:2113469G>T	ENST00000280665.6	-	1	208	c.129C>A	c.(127-129)ttC>ttA	p.F43L	RP5-1096D14.6_ENST00000354425.4_RNA|DCP1B_ENST00000397173.4_5'UTR|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	43					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)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			CCCGATGGCCGAAGGTGTACA	0.682																																						uc001qjx.1		NaN																	0				skin(1)	1						c.(127-129)TTC>TTA		decapping enzyme Dcp1b							33.0	28.0	29.0					12																	2113469		2201	4299	6500	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2113469G>T	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.129C>A	12.37:g.2113469G>T	ENSP00000280665:p.Phe43Leu					DCP1B_uc010sdy.1_5'UTR|DCP1B_uc010sdz.1_Missense_Mutation_p.F43L	p.F43L	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		1	209	-			43					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.129C>A	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655715	0.88056	.	.	ENSG00000151065	ENST00000280665;ENST00000541700;ENST00000535873	T	0.30981	1.51	5.22	3.39	0.38822	.	0.049439	0.85682	D	0.000000	T	0.49184	0.1542	M	0.81497	2.545	0.80722	D	1	P;D	0.58268	0.856;0.982	P;P	0.58077	0.761;0.832	T	0.49133	-0.8971	10	0.52906	T	0.07	-21.036	10.27	0.43477	0.1592:0.0:0.8408:0.0	.	43;43	B4DVJ6;Q8IZD4	.;DCP1B_HUMAN	L	43	ENSP00000280665:F43L	ENSP00000280665:F43L	F	-	3	2	DCP1B	1983730	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	3.692000	0.54727	0.579000	0.29504	0.591000	0.81541	TTC		0.682	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1		NM_152640		11	43	1	0	4.68919e-08	1	4.86744e-08	11	43		
CACNA1C	775	broad.mit.edu	37	12	2224703	2224703	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:2224703C>G	ENST00000347598.4	+	2	363	c.363C>G	c.(361-363)gtC>gtG	p.V121V	CACNA1C_ENST00000402845.3_Silent_p.V121V|CACNA1C_ENST00000406454.3_Silent_p.V121V|CACNA1C_ENST00000399603.1_Silent_p.V121V|CACNA1C_ENST00000399597.1_Silent_p.V121V|CACNA1C_ENST00000399606.1_Silent_p.V121V|CACNA1C_ENST00000399601.1_Silent_p.V121V|CACNA1C_ENST00000399621.1_Silent_p.V121V|CACNA1C_ENST00000399641.1_Silent_p.V121V|CACNA1C_ENST00000399595.1_Silent_p.V121V|CACNA1C_ENST00000335762.5_Silent_p.V121V|CACNA1C_ENST00000399634.1_Silent_p.V121V|CACNA1C_ENST00000399591.1_Silent_p.V121V|CACNA1C_ENST00000327702.7_Silent_p.V121V|CACNA1C_ENST00000399655.1_Silent_p.V121V|CACNA1C_ENST00000399644.1_Silent_p.V121V|CACNA1C_ENST00000399637.1_Silent_p.V121V|CACNA1C_ENST00000399629.1_Silent_p.V121V|CACNA1C_ENST00000344100.3_Silent_p.V121V|CACNA1C_ENST00000399649.1_Silent_p.V121V|CACNA1C_ENST00000480911.1_Silent_p.V121V|CACNA1C_ENST00000399638.1_Silent_p.V121V|CACNA1C_ENST00000399617.1_Silent_p.V121V	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	121					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCAGCATTGTCGAATGGAAAT	0.647																																						uc009zdu.1		NaN																	0				ovary(10)|central_nervous_system(1)	11						c.(361-363)GTC>GTG		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						38.0	46.0	43.0					12																	2224703		2123	4256	6379	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2224703C>G	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.363C>G	12.37:g.2224703C>G						CACNA1C_uc009zdv.1_Silent_p.V121V|CACNA1C_uc001qkb.2_Silent_p.V121V|CACNA1C_uc001qkc.2_Silent_p.V121V|CACNA1C_uc001qke.2_Silent_p.V121V|CACNA1C_uc001qkf.2_Silent_p.V121V|CACNA1C_uc001qjz.2_Silent_p.V121V|CACNA1C_uc001qkd.2_Silent_p.V121V|CACNA1C_uc001qkg.2_Silent_p.V121V|CACNA1C_uc009zdw.1_Silent_p.V121V|CACNA1C_uc001qkh.2_Silent_p.V121V|CACNA1C_uc001qkl.2_Silent_p.V121V|CACNA1C_uc001qkn.2_Silent_p.V121V|CACNA1C_uc001qko.2_Silent_p.V121V|CACNA1C_uc001qkp.2_Silent_p.V121V|CACNA1C_uc001qkr.2_Silent_p.V121V|CACNA1C_uc001qku.2_Silent_p.V121V|CACNA1C_uc001qkq.2_Silent_p.V121V|CACNA1C_uc001qks.2_Silent_p.V121V|CACNA1C_uc001qkt.2_Silent_p.V121V	p.V121V	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	2	676	+			121			Cytoplasmic (Potential).|I.		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.363C>G	CCDS44788.1																																																																																				0.647	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1		NM_000719		20	77	0	0	0	1	0	20	77		
GPR162	27239	broad.mit.edu	37	12	6933172	6933172	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:6933172C>G	ENST00000311268.3	+	2	895	c.108C>G	c.(106-108)ctC>ctG	p.L36L	GPR162_ENST00000541431.1_Intron|GPR162_ENST00000428545.2_Intron|GPR162_ENST00000382315.3_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GGATCATCCTCAGCATCTCGG	0.657																																						uc001qqw.1		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(106-108)CTC>CTG		G protein-coupled receptor 162 isoform 2							35.0	30.0	31.0					12																	6933172		2203	4300	6503	SO:0001819	synonymous_variant	27239					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6933172C>G	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.108C>G	12.37:g.6933172C>G						GPR162_uc010sfn.1_Silent_p.L36L|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank	p.L36L	NM_019858	NP_062832	Q16538	GP162_HUMAN			2	643	+			36			Helical; Name=1; (Potential).		Q16664|Q59EH5|Q66K56	Silent	SNP	ENST00000311268.3	37	c.108C>G	CCDS8563.1																																																																																				0.657	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1		NM_019858		15	34	0	0	0	1	0	15	34		
TAS2R43	259289	broad.mit.edu	37	12	11244734	11244734	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:11244734G>A	ENST00000531678.1	-	1	178	c.95C>T	c.(94-96)tCc>tTc	p.S32F	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	32					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CCACTCAATGGAATTTACCAG	0.388																																						uc001qzq.1		NaN																	0				ovary(1)	1						c.(94-96)TCC>TTC		taste receptor, type 2, member 43							41.0	37.0	39.0					12																	11244734		1831	3491	5322	SO:0001583	missense	259289				detection of chemical stimulus involved in sensory perception of bitter taste	cilium membrane|motile cilium	bitter taste receptor activity	g.chr12:11244734G>A	AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.95C>T	12.37:g.11244734G>A	ENSP00000431719:p.Ser32Phe					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.S32F	NM_176884	NP_795365	P59537	T2R43_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	1	179	-			32			Cytoplasmic (Potential).		P59546|Q645X4	Missense_Mutation	SNP	ENST00000531678.1	37	c.95C>T	CCDS53749.1	.	.	.	.	.	.	.	.	.	.	-	0.005	-2.217932	0.00286	.	.	ENSG00000255374	ENST00000531678	T	0.00700	5.82	1.97	-3.95	0.04118	.	.	.	.	.	T	0.00412	0.0013	N	0.05330	-0.07	0.23221	N	0.998092	B	0.02656	0.0	B	0.11329	0.006	T	0.44436	-0.9328	9	0.22706	T	0.39	.	0.4963	0.00572	0.3442:0.2829:0.2015:0.1715	.	32	P59537	T2R43_HUMAN	F	32	ENSP00000431719:S32F	ENSP00000431719:S32F	S	-	2	0	TAS2R43	11136001	0.000000	0.05858	0.352000	0.25734	0.127000	0.20565	-1.736000	0.01845	-0.917000	0.03813	0.184000	0.17185	TCC		0.388	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1		NM_176884		12	52	0	0	0	1	0	12	52		
ETV6	2120	broad.mit.edu	37	12	12022357	12022357	+	Splice_Site	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:12022357G>T	ENST00000396373.4	+	5	737		c.e5-1			NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6						cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CTGCTCCACAGATAACTGTGT	0.552			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	uc001qzz.2		NaN		Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"""L, E, M"""	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5		congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL	ETV6/NTRK3(234)|ETV6/JAK2(11)	0				soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250						c.e5-1		ets variant 6							98.0	100.0	99.0					12																	12022357		2203	4300	6503	SO:0001630	splice_region_variant	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12022357G>T	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.464-1G>T	12.37:g.12022357G>T						ETV6_uc001raa.1_5'Flank	p.D155_splice	NM_001987	NP_001978	P41212	ETV6_HUMAN			5	738	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)						A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Splice_Site	SNP	ENST00000396373.4	37	c.464_splice	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855000	0.32791	.	.	ENSG00000139083	ENST00000396373	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7466	0.91795	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ETV6	11913624	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	6.970000	0.76099	2.514000	0.84764	0.655000	0.94253	.		0.552	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2		NM_001987	Intron	38	130	1	0	4.14481e-20	1	4.40223e-20	38	130		
GRIN2B	2904	broad.mit.edu	37	12	13769390	13769390	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:13769390C>T	ENST00000609686.1	-	5	1536	c.1327G>A	c.(1327-1329)Gag>Aag	p.E443K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	443					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.E443K(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATGCCATACTCAGTGACTATG	0.527																																						uc001rbt.2		NaN																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(1327-1329)GAG>AAG		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						134.0	104.0	114.0					12																	13769390		2203	4300	6503	SO:0001630	splice_region_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13769390C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1328+1G>A	12.37:g.13769390C>T							p.E443K	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			5	1506	-			443			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.1327G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.108378	0.56291	.	.	ENSG00000150086	ENST00000279593	T	0.11712	2.75	5.53	5.53	0.82687	Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.322739	0.34200	N	0.004175	T	0.09992	0.0245	N	0.22421	0.69	0.80722	D	1	B	0.20052	0.041	B	0.16289	0.015	T	0.21245	-1.0251	10	0.30078	T	0.28	.	19.4657	0.94939	0.0:1.0:0.0:0.0	.	443	Q13224	NMDE2_HUMAN	K	443	ENSP00000279593:E443K	ENSP00000279593:E443K	E	-	1	0	GRIN2B	13660657	1.000000	0.71417	0.998000	0.56505	0.932000	0.56968	3.968000	0.56809	2.579000	0.87056	0.563000	0.77884	GAG		0.527	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			Missense_Mutation	16	50	0	0	0	1	0	16	50		
ERP27	121506	broad.mit.edu	37	12	15068615	15068615	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:15068615G>A	ENST00000266397.2	-	6	1155	c.582C>T	c.(580-582)ctC>ctT	p.L194L	ERP27_ENST00000544881.1_5'UTR|ERP27_ENST00000540097.1_Silent_p.L93L	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	194						endoplasmic reticulum (GO:0005783)				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						CCAGAATAAAGAGAATCTGCA	0.403																																						uc001rco.2		NaN																	0				breast(1)	1						c.(580-582)CTC>CTT		endoplasmic reticulum protein 27 kDa precursor							53.0	53.0	53.0					12																	15068615		2203	4300	6503	SO:0001819	synonymous_variant	121506					endoplasmic reticulum lumen		g.chr12:15068615G>A	AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"""Protein disulfide isomerases"""	26495	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 8"""	610642	"""chromosome 12 open reading frame 46"", ""endoplasmic reticulum protein 27 kDa"""	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.582C>T	12.37:g.15068615G>A							p.L194L	NM_152321	NP_689534	Q96DN0	ERP27_HUMAN			6	603	-			194						Silent	SNP	ENST00000266397.2	37	c.582C>T	CCDS8670.1																																																																																				0.403	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400868.1		NM_152321		11	41	0	0	0	1	0	11	41		
ASUN	55726	broad.mit.edu	37	12	27066474	27066474	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:27066474C>T	ENST00000261191.7	-	14	2257	c.1721G>A	c.(1720-1722)gGa>gAa	p.G574E	ASUN_ENST00000539625.1_Missense_Mutation_p.G473E	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	574					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CCTCTTTCTTCCTCGTTTCTT	0.448																																						uc001rhk.3		NaN																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1720-1722)GGA>GAA		hypothetical protein LOC55726							385.0	357.0	367.0					12																	27066474		2203	4300	6503	SO:0001583	missense	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27066474C>T	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1721G>A	12.37:g.27066474C>T	ENSP00000261191:p.Gly574Glu					C12orf11_uc001rhj.3_Missense_Mutation_p.G142E|C12orf11_uc010sjk.1_Missense_Mutation_p.G473E	p.G574E	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN			14	2258	-	Colorectal(261;0.0847)		574			Potential.		B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	c.1721G>A	CCDS8708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.6|25.6	4.649905|4.649905	0.87958|0.87958	.|.	.|.	ENSG00000064102|ENSG00000064102	ENST00000261190|ENST00000538155;ENST00000261191;ENST00000539625;ENST00000335745	.|T;T;T	.|0.49432	.|0.78;0.78;0.78	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63094|0.63094	0.2482|0.2482	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.959	.|D;P	.|0.72982	.|0.979;0.718	T|T	0.59456|0.59456	-0.7451|-0.7451	6|10	0.08179|0.39692	T|T	0.78|0.17	-20.088|-20.088	17.5062|17.5062	0.87746|0.87746	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|574;473	.|Q9NVM9;B4DNK1	.|M89BB_HUMAN;.	K|E	71|221;574;473;161	.|ENSP00000445645:G221E;ENSP00000261191:G574E;ENSP00000443724:G473E	ENSP00000261190:E71K|ENSP00000261191:G574E	E|G	-|-	1|2	0|0	C12orf11|C12orf11	26957741|26957741	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.998000|0.998000	0.95712|0.95712	5.745000|5.745000	0.68672|0.68672	2.727000|2.727000	0.93392|0.93392	0.591000|0.591000	0.81541|0.81541	GAA|GGA		0.448	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1		NM_018164		67	234	0	0	0	1	0	67	234		
ARNTL2	56938	broad.mit.edu	37	12	27543128	27543128	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:27543128C>A	ENST00000266503.5	+	9	893	c.875C>A	c.(874-876)tCt>tAt	p.S292Y	RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000544915.1_Missense_Mutation_p.S258Y|ARNTL2_ENST00000261178.5_Missense_Mutation_p.S244Y|ARNTL2_ENST00000546179.1_Missense_Mutation_p.S255Y|ARNTL2_ENST00000395901.2_Missense_Mutation_p.S255Y|ARNTL2_ENST00000542388.1_Missense_Mutation_p.S207Y|ARNTL2_ENST00000311001.5_Missense_Mutation_p.S278Y			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	292					circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|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)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					TGTAAAATCTCTGTCAAAGAA	0.393																																						uc001rht.1		NaN																	0				ovary(1)|skin(1)	2						c.(874-876)TCT>TAT		aryl hydrocarbon receptor nuclear							102.0	100.0	100.0					12																	27543128		2203	4300	6503	SO:0001583	missense	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27543128C>A	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.875C>A	12.37:g.27543128C>A	ENSP00000266503:p.Ser292Tyr					ARNTL2_uc001rhw.2_Missense_Mutation_p.S255Y|ARNTL2_uc010sjp.1_Missense_Mutation_p.S255Y|ARNTL2_uc001rhu.1_Missense_Mutation_p.S278Y|ARNTL2_uc009zji.1_Missense_Mutation_p.S258Y|ARNTL2_uc001rhv.1_Missense_Mutation_p.S244Y|uc001rhx.2_Intron	p.S292Y	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN			9	893	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		292					B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Missense_Mutation	SNP	ENST00000266503.5	37	c.875C>A	CCDS8712.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.10|13.10	2.136915|2.136915	0.37728|0.37728	.|.	.|.	ENSG00000029153|ENSG00000029153	ENST00000457040|ENST00000544915;ENST00000395901;ENST00000546179;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388	.|T;T;T;T;T;T;T	.|0.08282	.|3.23;3.24;3.11;3.23;3.24;3.24;3.25	3.55|3.55	2.65|2.65	0.31530|0.31530	.|.	.|0.335607	.|0.28700	.|N	.|0.014439	T|T	0.17238|0.17238	0.0414|0.0414	L|L	0.61218|0.61218	1.895|1.895	0.09310|0.09310	N|N	1|1	.|D;P;D;D;P;B	.|0.58970	.|0.984;0.537;0.971;0.971;0.889;0.101	.|P;P;P;P;P;B	.|0.58873	.|0.847;0.567;0.847;0.847;0.735;0.125	T|T	0.02958|0.02958	-1.1089|-1.1089	5|10	.|0.87932	.|D	.|0	.|.	5.8662|5.8662	0.18777|0.18777	0.1881:0.7096:0.0:0.1023|0.1881:0.7096:0.0:0.1023	.|.	.|255;258;255;244;278;292	.|F5H402;Q8WYA1-5;Q8WYA1-3;Q8WYA1-4;Q8WYA1-2;Q8WYA1	.|.;.;.;.;.;BMAL2_HUMAN	M|Y	244|258;255;255;278;244;292;207	.|ENSP00000442438:S258Y;ENSP00000379238:S255Y;ENSP00000438545:S255Y;ENSP00000312247:S278Y;ENSP00000261178:S244Y;ENSP00000266503:S292Y;ENSP00000445836:S207Y	.|ENSP00000261178:S244Y	L|S	+|+	1|2	2|0	ARNTL2|ARNTL2	27434395|27434395	0.053000|0.053000	0.20554|0.20554	0.634000|0.634000	0.29324|0.29324	0.965000|0.965000	0.64279|0.64279	3.461000|3.461000	0.53035|0.53035	0.840000|0.840000	0.34995|0.34995	0.655000|0.655000	0.94253|0.94253	CTG|TCT		0.393	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1		NM_020183		19	64	1	0	3.99206e-14	1	4.2057e-14	19	64		
ARNTL2	56938	broad.mit.edu	37	12	27553558	27553558	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:27553558G>A	ENST00000266503.5	+	10	1029	c.1011G>A	c.(1009-1011)aaG>aaA	p.K337K	RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000544915.1_Silent_p.K303K|ARNTL2_ENST00000261178.5_Silent_p.K289K|ARNTL2_ENST00000546179.1_Silent_p.K300K|ARNTL2_ENST00000395901.2_Silent_p.K300K|ARNTL2_ENST00000542388.1_Silent_p.K252K|ARNTL2_ENST00000311001.5_Silent_p.K323K			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	337					circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|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)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					GGAACAGTAAGAAAGACAACA	0.378																																						uc001rht.1		NaN																	0				ovary(1)|skin(1)	2						c.(1009-1011)AAG>AAA		aryl hydrocarbon receptor nuclear							107.0	109.0	108.0					12																	27553558		2203	4300	6503	SO:0001819	synonymous_variant	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27553558G>A	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.1011G>A	12.37:g.27553558G>A						ARNTL2_uc001rhw.2_Silent_p.K300K|ARNTL2_uc010sjp.1_Silent_p.K300K|ARNTL2_uc001rhu.1_Silent_p.K323K|ARNTL2_uc009zji.1_Silent_p.K303K|ARNTL2_uc001rhv.1_Silent_p.K289K|uc001rhx.2_Intron	p.K337K	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN			10	1029	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		337					B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Silent	SNP	ENST00000266503.5	37	c.1011G>A	CCDS8712.1	.	.	.	.	.	.	.	.	.	.	G	4.435	0.080404	0.08533	.	.	ENSG00000029153	ENST00000457040	.	.	.	3.87	2.97	0.34412	.	.	.	.	.	T	0.24967	0.0606	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.18618	-1.0331	4	.	.	.	.	3.5337	0.07786	0.2692:0.2094:0.5214:0.0	.	.	.	.	K	289	.	.	R	+	2	0	ARNTL2	27444825	1.000000	0.71417	0.002000	0.10522	0.883000	0.51084	1.686000	0.37669	0.974000	0.38366	0.655000	0.94253	AGA		0.378	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1		NM_020183		23	50	0	0	0	1	0	23	50		
C12orf40	283461	broad.mit.edu	37	12	40037702	40037702	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:40037702G>C	ENST00000324616.5	+	3	339	c.185G>C	c.(184-186)tGc>tCc	p.C62S	C12orf40_ENST00000398716.1_5'UTR|C12orf40_ENST00000405531.3_Missense_Mutation_p.C62S	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	62										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CAGATATCTTGCAAGAAGAAA	0.294																																						uc001rmc.2		NaN																	0				ovary(6)	6						c.(184-186)TGC>TCC		hypothetical protein LOC283461							70.0	74.0	72.0					12																	40037702		1808	4056	5864	SO:0001583	missense	283461							g.chr12:40037702G>C	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.185G>C	12.37:g.40037702G>C	ENSP00000317671:p.Cys62Ser					C12orf40_uc009zjv.1_Intron	p.C62S	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN			3	352	+			62					B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	c.185G>C	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.589446	0.28357	.	.	ENSG00000180116	ENST00000405531;ENST00000324616	T;T	0.41758	0.99;1.0	5.67	2.65	0.31530	.	0.279292	0.26096	N	0.026375	T	0.22859	0.0552	N	0.12182	0.205	0.80722	D	1	P	0.40332	0.713	B	0.39562	0.303	T	0.02958	-1.1089	10	0.22109	T	0.4	.	10.0538	0.42233	0.0:0.279:0.5864:0.1347	.	62	Q86WS4	CL040_HUMAN	S	62	ENSP00000383897:C62S;ENSP00000317671:C62S	ENSP00000317671:C62S	C	+	2	0	C12orf40	38323969	0.496000	0.26059	0.996000	0.52242	0.514000	0.34195	0.641000	0.24720	1.492000	0.48499	0.585000	0.79938	TGC		0.294	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2		NM_173599		7	38	0	0	0	1	0	7	38		
ADAMTS20	80070	broad.mit.edu	37	12	43826205	43826205	+	Missense_Mutation	SNP	G	G	A	rs369101503		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:43826205G>A	ENST00000389420.3	-	21	2997	c.2998C>T	c.(2998-3000)Cgt>Tgt	p.R1000C	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R1000C|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R154C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1000	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.		R -> H (in dbSNP:rs7297737).		extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCAGCAAGACGATGGCCAAAG	0.433																																						uc010skx.1		NaN																	0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(2998-3000)CGT>TGT		a disintegrin-like and metalloprotease with		G	CYS/ARG	0,4406		0,0,2203	125.0	123.0	124.0		2998	4.0	0.4	12		124	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS20	NM_025003.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1000/1911	43826205	1,13005	2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43826205G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2998C>T	12.37:g.43826205G>A	ENSP00000374071:p.Arg1000Cys					ADAMTS20_uc001rno.1_Missense_Mutation_p.R154C|ADAMTS20_uc001rnp.1_Missense_Mutation_p.R154C	p.R1000C	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	21	2998	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1000			TSP type-1 4.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.2998C>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012081	0.54468	0.0	1.16E-4	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	4.89	4.0	0.46444	.	0.364200	0.23662	N	0.045818	T	0.72906	0.3519	M	0.83603	2.65	0.44880	D	0.997891	D;D	0.89917	0.997;1.0	P;D	0.72075	0.773;0.976	T	0.76884	-0.2794	10	0.54805	T	0.06	.	14.0092	0.64486	0.0744:0.0:0.9256:0.0	.	1000;154	P59510;E9PBD5	ATS20_HUMAN;.	C	1000;166;154;1000;1000	ENSP00000374071:R1000C;ENSP00000447427:R166C;ENSP00000378911:R154C;ENSP00000448341:R1000C	ENSP00000374068:R1000C	R	-	1	0	ADAMTS20	42112472	1.000000	0.71417	0.394000	0.26270	0.851000	0.48451	5.621000	0.67743	1.367000	0.46095	0.655000	0.94253	CGT		0.433	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1		NM_025003		18	70	0	0	0	1	0	18	70		
LALBA	3906	broad.mit.edu	37	12	48962944	48962944	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:48962944G>C	ENST00000301046.2	-	2	238	c.213C>G	c.(211-213)ctC>ctG	p.L71L	LALBA_ENST00000549817.1_Silent_p.L71L	NM_002289.2	NP_002280.1	P00709	LALBA_HUMAN	lactalbumin, alpha-	71					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|lactose biosynthetic process (GO:0005989)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|lactose synthase activity (GO:0004461)			large_intestine(1)|stomach(2)	3						TGATCTGGAAGAGTCCATATT	0.453																																						uc001rrt.2		NaN																	0					0						c.(211-213)CTC>CTG		lactalbumin, alpha- precursor							227.0	192.0	204.0					12																	48962944		2203	4300	6503	SO:0001819	synonymous_variant	3906				cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity	g.chr12:48962944G>C		CCDS8765.1	12q13	2012-10-02				ENSG00000167531			6480	protein-coding gene	gene with protein product		149750					Standard	XM_006719395		Approved	LYZL7	uc001rrt.3	P00709	OTTHUMG00000170391	ENST00000301046.2:c.213C>G	12.37:g.48962944G>C							p.L71L	NM_002289	NP_002280	P00709	LALBA_HUMAN			2	239	-			71					Q6FGX0|Q9UDK4	Silent	SNP	ENST00000301046.2	37	c.213C>G	CCDS8765.1																																																																																				0.453	LALBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408836.1		NM_002289		18	65	0	0	0	1	0	18	65		
CCNT1	904	broad.mit.edu	37	12	49087241	49087241	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49087241C>G	ENST00000261900.3	-	9	1978	c.1756G>C	c.(1756-1758)Gat>Cat	p.D586H		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	586	Ser-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GCTGGATGATCAAACACAGCC	0.453																																						uc001rse.1		NaN																	0				ovary(3)|lung(1)|breast(1)|skin(1)	6						c.(1756-1758)GAT>CAT		cyclin T1							81.0	83.0	82.0					12																	49087241		2203	4300	6503	SO:0001583	missense	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087241C>G	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1756G>C	12.37:g.49087241C>G	ENSP00000261900:p.Asp586His					LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_Missense_Mutation_p.D301H	p.D586H	NM_001240	NP_001231	O60563	CCNT1_HUMAN			9	2079	-			586			Ser-rich.		A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	c.1756G>C	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877139	0.51801	.	.	ENSG00000129315	ENST00000261900	T	0.17528	2.27	4.96	4.96	0.65561	.	0.403453	0.28940	N	0.013660	T	0.12390	0.0301	N	0.14661	0.345	0.41821	D	0.99002	B	0.06786	0.001	B	0.06405	0.002	T	0.09314	-1.0680	10	0.37606	T	0.19	-6.3839	17.3281	0.87255	0.0:1.0:0.0:0.0	.	586	O60563	CCNT1_HUMAN	H	586	ENSP00000261900:D586H	ENSP00000261900:D586H	D	-	1	0	CCNT1	47373508	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.988000	0.40697	2.467000	0.83353	0.561000	0.74099	GAT		0.453	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1		NM_001240		21	61	0	0	0	1	0	21	61		
ADCY6	112	broad.mit.edu	37	12	49164698	49164698	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49164698G>A	ENST00000307885.4	-	19	3801	c.3107C>T	c.(3106-3108)aCc>aTc	p.T1036I	ADCY6_ENST00000550422.1_Missense_Mutation_p.T983I|ADCY6_ENST00000357869.3_Missense_Mutation_p.T983I|MIR4701_ENST00000583094.1_RNA	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	1036					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						AGCCATGTAGGTGCTACCAAT	0.582																																						uc001rsh.3		NaN																	0					0						c.(3106-3108)ACC>ATC		adenylate cyclase 6 isoform a							114.0	94.0	101.0					12																	49164698		2203	4300	6503	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49164698G>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.3107C>T	12.37:g.49164698G>A	ENSP00000311405:p.Thr1036Ile					ADCY6_uc001rsj.3_Missense_Mutation_p.T1036I|ADCY6_uc001rsi.3_Missense_Mutation_p.T983I|ADCY6_uc010slw.1_3'UTR	p.T1036I	NM_015270	NP_056085	O43306	ADCY6_HUMAN			19	3767	-			1036			Cytoplasmic (Potential).		Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.3107C>T	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	G	31	5.088536	0.94100	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.29655	1.56;1.56;1.56	4.99	4.99	0.66335	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.57681	0.2070	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.981;0.997	T	0.61382	-0.7074	10	0.87932	D	0	.	17.9241	0.88977	0.0:0.0:1.0:0.0	.	983;1036	O43306-2;O43306	.;ADCY6_HUMAN	I	983;983;1036	ENSP00000350536:T983I;ENSP00000446730:T983I;ENSP00000311405:T1036I	ENSP00000311405:T1036I	T	-	2	0	ADCY6	47450965	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.706000	0.92434	0.650000	0.86243	ACC		0.582	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1		NM_020983		30	74	0	0	0	1	0	30	74		
ARF3	377	broad.mit.edu	37	12	49334843	49334843	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49334843C>T	ENST00000256682.4	-	2	370	c.36G>A	c.(34-36)ctG>ctA	p.L12L	RP11-302B13.5_ENST00000398092.4_Silent_p.L12L|ARF3_ENST00000541959.1_Silent_p.L12L|AC073610.5_ENST00000537495.1_5'Flank|ARF3_ENST00000541967.1_5'Flank|ARF3_ENST00000447318.2_Silent_p.L12L	NM_001659.2	NP_001650.1	P61204	ARF3_HUMAN	ADP-ribosylation factor 3	12					GTP catabolic process (GO:0006184)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|skin(1)	4						TCTTCCCAATCAGGCTCTTGA	0.547																																					Pancreas(189;1862 2134 4419 30933 49364)	uc001rsr.2		NaN																	0					0						c.(34-36)CTG>CTA		ADP-ribosylation factor 3							242.0	222.0	229.0					12																	49334843		2203	4300	6503	SO:0001819	synonymous_variant	377				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity	g.chr12:49334843C>T	M74491	CCDS8774.1	12q13.12	2013-01-22			ENSG00000134287	ENSG00000134287		"""ADP-ribosylation factors"""	654	protein-coding gene	gene with protein product	"""small GTP binding protein"""	103190				8661066	Standard	NM_001659		Approved		uc001rsr.2	P61204	OTTHUMG00000168080	ENST00000256682.4:c.36G>A	12.37:g.49334843C>T						ARF3_uc010smc.1_Silent_p.L12L	p.L12L	NM_001659	NP_001650	P61204	ARF3_HUMAN			2	289	-			12					A8K6G8|B7ZB63|P16587	Silent	SNP	ENST00000256682.4	37	c.36G>A	CCDS8774.1																																																																																				0.547	ARF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258242.2		NM_001659		53	191	0	0	0	1	0	53	191		
PRKAG1	5571	broad.mit.edu	37	12	49406883	49406883	+	Nonsense_Mutation	SNP	G	G	C	rs199513404		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49406883G>C	ENST00000548065.1	-	2	476	c.20C>G	c.(19-21)tCa>tGa	p.S7*	PRKAG1_ENST00000547306.1_5'UTR|PRKAG1_ENST00000316299.5_Nonsense_Mutation_p.S7*|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000552212.1_5'UTR|RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000395170.3_5'UTR|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	7					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	GGAGCTATCTGAAGAAATGAC	0.423																																						uc001rsy.2		NaN																	0				kidney(1)	1						c.(19-21)TCA>TGA		AMP-activated protein kinase, noncatalytic							114.0	107.0	109.0					12																	49406883		2203	4300	6503	SO:0001587	stop_gained	5571				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding	g.chr12:49406883G>C	U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.20C>G	12.37:g.49406883G>C	ENSP00000447433:p.Ser7*					uc001rsw.2_Intron|PRKAG1_uc010smd.1_5'UTR|PRKAG1_uc001rsx.2_5'UTR|PRKAG1_uc001rsz.2_Nonsense_Mutation_p.S7*|PRKAG1_uc009zlb.2_5'UTR|PRKAG1_uc010sme.1_Nonsense_Mutation_p.S7*	p.S7*	NM_002733	NP_002724	P54619	AAKG1_HUMAN			2	89	-			7					B4DDT7|Q8N7V9	Nonsense_Mutation	SNP	ENST00000548065.1	37	c.20C>G	CCDS8777.1	.	.	.	.	.	.	.	.	.	.	G	37	6.455679	0.97581	.	.	ENSG00000181929	ENST00000316299;ENST00000548065;ENST00000547125	.	.	.	4.59	4.59	0.56863	.	0.550748	0.17564	N	0.169719	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	0.0023	13.227	0.59921	0.0:0.0:1.0:0.0	.	.	.	.	X	7;7;12	.	ENSP00000323867:S7X	S	-	2	0	PRKAG1	47693150	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.673000	0.54591	2.835000	0.97688	0.650000	0.86243	TCA		0.423	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408946.1		NM_002733		10	48	0	0	0	1	0	10	48		
KMT2D	8085	broad.mit.edu	37	12	49427438	49427438	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49427438G>A	ENST00000301067.7	-	39	11049	c.11050C>T	c.(11050-11052)Caa>Taa	p.Q3684*	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3684	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCAGAATGTTGCTGTTGCTGC	0.597																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(11050-11052)CAA>TAA		myeloid/lymphoid or mixed-lineage leukemia 2							59.0	65.0	63.0					12																	49427438		2001	4170	6171	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49427438G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11050C>T	12.37:g.49427438G>A	ENSP00000301067:p.Gln3684*	HNSCC(34;0.089)					p.Q3684*	NM_003482	NP_003473	O14686	MLL2_HUMAN			39	11050	-			3684			Gln-rich.		O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.11050C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	50	17.155336	0.99880	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.34	5.34	0.76211	.	0.000000	0.33272	N	0.005093	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.919	0.70822	0.0:0.0:1.0:0.0	.	.	.	.	X	3684	.	ENSP00000301067:Q3684X	Q	-	1	0	MLL2	47713705	1.000000	0.71417	1.000000	0.80357	0.518000	0.34316	2.088000	0.41663	2.673000	0.90976	0.563000	0.77884	CAA		0.597	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				33	112	0	0	0	1	0	33	112		
DHH	50846	broad.mit.edu	37	12	49485101	49485101	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49485101C>T	ENST00000266991.2	-	2	681	c.375G>A	c.(373-375)gtG>gtA	p.V125V	RP11-386G11.8_ENST00000553174.1_RNA|RP11-386G11.8_ENST00000548030.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	125					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(4)	8						AGCCCTCAGTCACTCGTAGGC	0.597																																						uc001rtf.2		NaN																	0				lung(1)|breast(1)	2						c.(373-375)GTG>GTA		desert hedgehog preproprotein							138.0	102.0	114.0					12																	49485101		2203	4300	6503	SO:0001819	synonymous_variant	50846				cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding	g.chr12:49485101C>T	AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"""desert hedgehog (Drosophila) homolog"""			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.375G>A	12.37:g.49485101C>T							p.V125V	NM_021044	NP_066382	O43323	DHH_HUMAN			2	682	-			125					Q15794	Silent	SNP	ENST00000266991.2	37	c.375G>A	CCDS8779.1																																																																																				0.597	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1		NM_021044		32	76	0	0	0	1	0	32	76		
PRPH	5630	broad.mit.edu	37	12	49689307	49689307	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49689307C>T	ENST00000257860.4	+	1	1823	c.324C>T	c.(322-324)ttC>ttT	p.F108F	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin	0					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						ACGACCGCTTCGCCAACTTCA	0.682																																						uc001rtu.2		NaN																	0					0						c.(322-324)TTC>TTT		peripherin							15.0	14.0	14.0					12																	49689307		2194	4291	6485	SO:0001819	synonymous_variant	5630						structural molecule activity	g.chr12:49689307C>T		CCDS8783.1	12q12-q13	2013-01-16						"""Intermediate filaments type III"""	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.324C>T	12.37:g.49689307C>T							p.F108F	NM_006262	NP_006253	P41219	PERI_HUMAN			1	399	+			108			Coil 1A.|Rod.		Q5TFH5|Q6DK65	Silent	SNP	ENST00000257860.4	37	c.324C>T	CCDS8783.1																																																																																				0.682	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393381.1		NM_006262		8	13	0	0	0	1	0	8	13		
MCRS1	10445	broad.mit.edu	37	12	49952459	49952459	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49952459G>C	ENST00000550165.1	-	16	1622	c.1356C>G	c.(1354-1356)atC>atG	p.I452M	MCRS1_ENST00000343810.4_Missense_Mutation_p.I452M|MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000546244.1_Missense_Mutation_p.I261M|MCRS1_ENST00000357123.4_Missense_Mutation_p.I465M			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	452					cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						CCTCAGCCCTGATGAGGGCAA	0.607																																						uc001ruk.1		NaN																	0				large_intestine(1)	1						c.(1354-1356)ATC>ATG		microspherule protein 1 isoform 1							87.0	75.0	79.0					12																	49952459		2203	4300	6503	SO:0001583	missense	10445				DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding	g.chr12:49952459G>C	BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"""INO80 complex subunits"""	6960	protein-coding gene	gene with protein product	"""INO80 complex subunit Q"""	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.1356C>G	12.37:g.49952459G>C	ENSP00000448056:p.Ile452Met					MCRS1_uc001rui.1_Missense_Mutation_p.I465M|MCRS1_uc001ruj.1_Missense_Mutation_p.I439M|MCRS1_uc001rul.1_Missense_Mutation_p.I452M|MCRS1_uc009zlj.1_Missense_Mutation_p.I261M|MCRS1_uc001rum.1_Missense_Mutation_p.I439M	p.I452M	NM_006337	NP_006328	Q96EZ8	MCRS1_HUMAN			15	1547	-			452					O14742|O75497|Q6VN53|Q7Z372	Missense_Mutation	SNP	ENST00000550165.1	37	c.1356C>G	CCDS8787.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892724	0.52121	.	.	ENSG00000187778	ENST00000546244;ENST00000343810;ENST00000550165;ENST00000357123	.	.	.	5.28	2.35	0.29111	.	0.000000	0.85682	D	0.000000	T	0.75781	0.3896	M	0.81497	2.545	0.51233	D	0.99991	D;D	0.76494	0.994;0.999	P;D	0.75484	0.809;0.986	T	0.74575	-0.3620	9	0.87932	D	0	-26.483	8.0325	0.30474	0.2783:0.0:0.7217:0.0	.	452;465	Q96EZ8;Q96EZ8-2	MCRS1_HUMAN;.	M	261;452;452;465	.	ENSP00000345358:I452M	I	-	3	3	MCRS1	48238726	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	1.130000	0.31393	0.321000	0.23259	0.655000	0.94253	ATC		0.607	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405102.1		NM_006337		18	71	0	0	0	1	0	18	71		
PRPF40B	25766	broad.mit.edu	37	12	50035705	50035705	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:50035705C>T	ENST00000380281.1	+	18	1780	c.1716C>T	c.(1714-1716)tgC>tgT	p.C572C	FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Silent_p.C594C|PRPF40B_ENST00000261897.1_Intron|FMNL3_ENST00000550668.1_5'Flank			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	572	FF 5.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GGGGCTTCTGCGTGGAGGTGA	0.577																																						uc001rur.1		NaN																	0				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						c.(1714-1716)TGC>TGT		Huntingtin interacting protein C isoform 1							82.0	76.0	78.0					12																	50035705		2203	4300	6503	SO:0001819	synonymous_variant	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50035705C>T	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1716C>T	12.37:g.50035705C>T						FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Silent_p.C594C|PRPF40B_uc001ruq.1_Intron|PRPF40B_uc001rus.1_Silent_p.C515C|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	p.C572C	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN			18	1780	+			572					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Silent	SNP	ENST00000380281.1	37	c.1716C>T																																																																																					0.577	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1		NM_012272		19	79	0	0	0	1	0	19	79		
ASIC1	41	broad.mit.edu	37	12	50453669	50453669	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:50453669G>A	ENST00000447966.2	+	3	719	c.490G>A	c.(490-492)Gac>Aac	p.D164N	ASIC1_ENST00000228468.4_Missense_Mutation_p.D164N	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	164					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	AGCTGGGCACGACATTCGAGA	0.567																																						uc001rvw.2		NaN																	0				ovary(1)	1						c.(490-492)GAC>AAC		amiloride-sensitive cation channel 2, neuronal	Amiloride(DB00594)						110.0	88.0	95.0					12																	50453669		2203	4300	6503	SO:0001583	missense	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50453669G>A	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.490G>A	12.37:g.50453669G>A	ENSP00000400228:p.Asp164Asn					ACCN2_uc001rvv.2_Missense_Mutation_p.D164N|ACCN2_uc009zln.2_5'UTR|ACCN2_uc009zlo.2_Missense_Mutation_p.D164N	p.D164N	NM_001095	NP_001086	P78348	ACCN2_HUMAN			3	719	+			164			Extracellular (By similarity).		A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	ENST00000447966.2	37	c.490G>A	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869414	0.91587	.	.	ENSG00000110881	ENST00000228468;ENST00000447966	T;T	0.63913	-0.07;-0.07	5.03	5.03	0.67393	.	0.054615	0.64402	D	0.000001	T	0.62841	0.2461	L	0.47716	1.5	0.80722	D	1	B;B	0.23990	0.095;0.041	B;B	0.33254	0.16;0.016	T	0.62358	-0.6871	10	0.59425	D	0.04	-23.4014	19.2452	0.93899	0.0:0.0:1.0:0.0	.	164;164	P78348;P78348-1	ACCN2_HUMAN;.	N	164	ENSP00000228468:D164N;ENSP00000400228:D164N	ENSP00000228468:D164N	D	+	1	0	ACCN2	48739936	1.000000	0.71417	0.996000	0.52242	0.885000	0.51271	9.869000	0.99810	2.732000	0.93576	0.655000	0.94253	GAC		0.567	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2		NM_020039		10	40	0	0	0	1	0	10	40		
GALNT6	11226	broad.mit.edu	37	12	51773340	51773340	+	Missense_Mutation	SNP	G	G	C	rs200846978		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:51773340G>C	ENST00000543196.2	-	2	431	c.226C>G	c.(226-228)Cca>Gca	p.P76A	GALNT6_ENST00000603203.1_5'Flank|GALNT6_ENST00000356317.3_Missense_Mutation_p.P76A			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	76					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGGGCTTCTGGAGCCCTGATT	0.562																																						uc001ryk.2		NaN																	0				ovary(2)	2						c.(226-228)CCA>GCA		polypeptide N-acetylgalactosaminyltransferase 6							88.0	91.0	90.0					12																	51773340		2203	4300	6503	SO:0001583	missense	11226				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:51773340G>C	Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.226C>G	12.37:g.51773340G>C	ENSP00000444171:p.Pro76Ala					GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Missense_Mutation_p.P76A|GALNT6_uc010snh.1_Missense_Mutation_p.P76A	p.P76A	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN			2	451	-			76			Lumenal (Potential).		Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	ENST00000543196.2	37	c.226C>G	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997582	0.74818	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.42513	0.97;0.97	4.52	4.52	0.55395	.	0.177682	0.49305	D	0.000157	T	0.63686	0.2532	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62416	-0.6859	10	0.41790	T	0.15	.	17.2315	0.86985	0.0:0.0:1.0:0.0	.	76	Q8NCL4	GALT6_HUMAN	A	76;76;57	ENSP00000444171:P76A;ENSP00000348668:P76A	ENSP00000348668:P76A	P	-	1	0	GALNT6	50059607	1.000000	0.71417	0.988000	0.46212	0.721000	0.41392	9.601000	0.98297	2.793000	0.96121	0.655000	0.94253	CCA		0.562	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1		NM_007210		42	91	0	0	0	1	0	42	91		
KRT6C	286887	broad.mit.edu	37	12	52865855	52865855	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:52865855C>T	ENST00000252250.6	-	2	797	c.750G>A	c.(748-750)aaG>aaA	p.K250K		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	250	Coil 1B.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CTCACTTGTTCTTGAGGTCCT	0.547																																						uc001sal.3		NaN																	0				ovary(2)	2						c.(748-750)AAG>AAA		keratin 6C							77.0	58.0	65.0					12																	52865855		2203	4298	6501	SO:0001819	synonymous_variant	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52865855C>T	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.750G>A	12.37:g.52865855C>T							p.K250K	NM_173086	NP_775109	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	2	798	-			250			Coil 1B.|Rod.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	ENST00000252250.6	37	c.750G>A	CCDS8829.1																																																																																				0.547	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1		NM_173086		28	97	0	0	0	1	0	28	97		
PCBP2	5094	broad.mit.edu	37	12	53858606	53858606	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:53858606C>T	ENST00000439930.3	+	8	676	c.654C>T	c.(652-654)ctC>ctT	p.L218L	PCBP2_ENST00000541275.1_Silent_p.L214L|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000359282.5_Intron|PCBP2_ENST00000455667.3_Intron|PCBP2_ENST00000548933.1_Intron|PCBP2_ENST00000552819.1_Intron|PCBP2_ENST00000549863.1_Intron|PCBP2_ENST00000437231.1_Intron|PCBP2_ENST00000359462.5_Silent_p.L218L|PCBP2_ENST00000552296.2_Silent_p.L214L|PCBP2_ENST00000546463.1_Silent_p.L214L|PCBP2_ENST00000447282.1_Intron|PCBP2_ENST00000603815.1_Silent_p.L218L			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	218					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						ccatgtgcctcaaccctgacc	0.582																																						uc001sdl.3		NaN																	0					0						c.(652-654)CTC>CTT		poly(rC) binding protein 2 isoform d							112.0	86.0	94.0					12																	53858606		2203	4300	6503	SO:0001819	synonymous_variant	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53858606C>T	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.654C>T	12.37:g.53858606C>T						PCBP2_uc001sdc.3_Silent_p.L218L|PCBP2_uc001sdb.3_Silent_p.L214L|PCBP2_uc001sde.3_Silent_p.L214L|PCBP2_uc001sdi.3_Intron|PCBP2_uc001sdd.3_Intron|PCBP2_uc001sdf.3_Intron|PCBP2_uc009zna.2_Silent_p.L175L|PCBP2_uc010soi.1_Intron|PCBP2_uc001sdj.3_Intron|PCBP2_uc010soj.1_Intron|PCBP2_uc001sdk.3_Silent_p.L3L|PCBP2_uc010soh.1_Silent_p.L214L	p.L218L	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN			9	1004	+			218					A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Silent	SNP	ENST00000439930.3	37	c.654C>T	CCDS44901.1																																																																																				0.582	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2		NM_005016		20	60	0	0	0	1	0	20	60		
GPR84	53831	broad.mit.edu	37	12	54756722	54756722	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:54756722C>T	ENST00000551809.1	-	1	1549	c.914G>A	c.(913-915)aGa>aAa	p.R305K	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.R305K			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CGGAGCTCTTCTGGCTCCTTT	0.507																																						uc001sfu.2		NaN																	0				breast(2)	2						c.(913-915)AGA>AAA		G protein-coupled receptor 84							122.0	127.0	125.0					12																	54756722		2203	4300	6503	SO:0001583	missense	53831					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:54756722C>T	AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.914G>A	12.37:g.54756722C>T	ENSP00000450310:p.Arg305Lys						p.R305K	NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN			2	1004	-			305			Cytoplasmic (Potential).		B6V9G7	Missense_Mutation	SNP	ENST00000551809.1	37	c.914G>A	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.153377	0.00325	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.37058	1.22;1.22	4.08	-6.13	0.02118	GPCR, rhodopsin-like superfamily (1);	2.058800	0.02794	N	0.122402	T	0.21468	0.0517	L	0.34521	1.04	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.24728	-1.0152	10	0.07325	T	0.83	0.6568	6.2275	0.20716	0.0:0.2146:0.2622:0.5232	.	305	Q9NQS5	GPR84_HUMAN	K	305	ENSP00000267015:R305K;ENSP00000450310:R305K	ENSP00000267015:R305K	R	-	2	0	GPR84	53042989	0.000000	0.05858	0.011000	0.14972	0.110000	0.19582	-2.779000	0.00774	-1.350000	0.02199	-0.974000	0.02594	AGA		0.507	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1				50	147	0	0	0	1	0	50	147		
OR6C74	254783	broad.mit.edu	37	12	55641610	55641610	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:55641610C>G	ENST00000343870.4	+	1	629	c.539C>G	c.(538-540)tCt>tGt	p.S180C		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TGTGATGTTTCTCCTATACTG	0.433																																						uc010spg.1		NaN																	0				central_nervous_system(1)	1						c.(538-540)TCT>TGT		olfactory receptor, family 6, subfamily C,							90.0	83.0	86.0					12																	55641610		2203	4300	6503	SO:0001583	missense	254783				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55641610C>G		CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"""GPCR / Class A : Olfactory receptors"""	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.539C>G	12.37:g.55641610C>G	ENSP00000342836:p.Ser180Cys						p.S180C	NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN			1	539	+			180			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000343870.4	37	c.539C>G	CCDS31816.1	.	.	.	.	.	.	.	.	.	.	c	14.82	2.649996	0.47362	.	.	ENSG00000197706	ENST00000343870	T	0.00145	8.67	5.34	4.45	0.53987	GPCR, rhodopsin-like superfamily (1);	0.127499	0.36066	N	0.002810	T	0.00440	0.0014	M	0.81179	2.53	0.32440	N	0.546816	D	0.64830	0.994	D	0.63283	0.913	T	0.56463	-0.7975	10	0.52906	T	0.07	.	13.9935	0.64380	0.0:0.9254:0.0:0.0746	.	180	A6NCV1	O6C74_HUMAN	C	180	ENSP00000342836:S180C	ENSP00000342836:S180C	S	+	2	0	OR6C74	53927877	0.000000	0.05858	0.935000	0.37517	0.479000	0.33129	-0.171000	0.09883	1.396000	0.46663	-0.268000	0.10319	TCT		0.433	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1				20	79	0	0	0	1	0	20	79		
PMEL	6490	broad.mit.edu	37	12	56349424	56349424	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:56349424G>C	ENST00000548747.1	-	9	2248	c.1586C>G	c.(1585-1587)tCa>tGa	p.S529*	PMEL_ENST00000449260.2_Nonsense_Mutation_p.S529*|PMEL_ENST00000550447.1_Nonsense_Mutation_p.S158*|PMEL_ENST00000552882.1_Nonsense_Mutation_p.S529*|PMEL_ENST00000548689.1_5'Flank|PMEL_ENST00000536427.1_Nonsense_Mutation_p.S487*|PMEL_ENST00000550464.1_Nonsense_Mutation_p.S443*|PMEL_ENST00000360714.4_Nonsense_Mutation_p.S529*|PMEL_ENST00000548493.1_Nonsense_Mutation_p.S529*|PMEL_ENST00000539511.1_Nonsense_Mutation_p.S443*			P40967	PMEL_HUMAN	premelanosome protein	529					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCCTGGCGATGAGATCTCCAT	0.597																																						uc001sip.2		NaN																	0					0						c.(1585-1587)TCA>TGA		silver homolog							37.0	43.0	41.0					12																	56349424		2203	4300	6503	SO:0001587	stop_gained	6490				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	g.chr12:56349424G>C	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.1586C>G	12.37:g.56349424G>C	ENSP00000448828:p.Ser529*					SILV_uc001siq.2_Nonsense_Mutation_p.S529*|SILV_uc010spx.1_Nonsense_Mutation_p.S443*|SILV_uc001sir.2_Nonsense_Mutation_p.S529*	p.S529*	NM_006928	NP_008859	P40967	PMEL_HUMAN			9	1617	-			529			Lumenal (Potential).		B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Nonsense_Mutation	SNP	ENST00000548747.1	37	c.1586C>G	CCDS8897.1	.	.	.	.	.	.	.	.	.	.	G	38	6.718434	0.97788	.	.	ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000539511;ENST00000550447	.	.	.	5.61	5.61	0.85477	.	0.000000	0.47852	D	0.000202	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-1.5074	18.7877	0.91961	0.0:0.0:1.0:0.0	.	.	.	.	X	529;529;443;529;529;529;487;443;158	.	ENSP00000353940:S529X	S	-	2	0	PMEL	54635691	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.116000	0.64661	2.814000	0.96858	0.591000	0.81541	TCA		0.597	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1		NM_006928		16	86	0	0	0	1	0	16	86		
PMEL	6490	broad.mit.edu	37	12	56349603	56349603	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:56349603C>T	ENST00000548747.1	-	8	2178	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K	PMEL_ENST00000449260.2_Missense_Mutation_p.E506K|PMEL_ENST00000550447.1_Missense_Mutation_p.E135K|PMEL_ENST00000552882.1_Missense_Mutation_p.E506K|PMEL_ENST00000548689.1_5'Flank|PMEL_ENST00000536427.1_Missense_Mutation_p.E464K|PMEL_ENST00000550464.1_Missense_Mutation_p.E420K|PMEL_ENST00000360714.4_Missense_Mutation_p.E506K|PMEL_ENST00000548493.1_Missense_Mutation_p.E506K|PMEL_ENST00000539511.1_Missense_Mutation_p.E420K			P40967	PMEL_HUMAN	premelanosome protein	506					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCATCCCCCTCACCGGACGGC	0.537											OREG0021914	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sip.2		NaN																	0					0						c.(1516-1518)GAG>AAG		silver homolog							139.0	125.0	130.0					12																	56349603		2203	4300	6503	SO:0001583	missense	6490				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	g.chr12:56349603C>T	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.1516G>A	12.37:g.56349603C>T	ENSP00000448828:p.Glu506Lys		OREG0021914	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014	SILV_uc001siq.2_Missense_Mutation_p.E506K|SILV_uc010spx.1_Missense_Mutation_p.E420K|SILV_uc001sir.2_Missense_Mutation_p.E506K	p.E506K	NM_006928	NP_008859	P40967	PMEL_HUMAN			8	1547	-			506			Lumenal (Potential).		B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	37	c.1516G>A	CCDS8897.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.660493	0.29515	.	.	ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000539511;ENST00000550447	T;T;T;T;T;T;T;T	0.12879	3.01;3.0;3.0;3.0;3.0;3.01;2.64;3.0	5.59	3.75	0.43078	.	0.405345	0.23551	N	0.046977	T	0.13329	0.0323	L	0.53249	1.67	0.22684	N	0.998856	B;B;B	0.10296	0.001;0.003;0.002	B;B;B	0.17098	0.005;0.017;0.007	T	0.18903	-1.0322	10	0.38643	T	0.18	-2.3398	7.543	0.27751	0.0:0.7091:0.1394:0.1515	.	420;506;506	P40967-3;P40967-2;P40967	.;.;PMEL_HUMAN	K	506;506;420;506;506;506;464;420;135	ENSP00000402758:E506K;ENSP00000449690:E506K;ENSP00000450036:E420K;ENSP00000448828:E506K;ENSP00000447374:E506K;ENSP00000353940:E506K;ENSP00000438695:E464K;ENSP00000445005:E420K	ENSP00000353940:E506K	E	-	1	0	PMEL	54635870	0.007000	0.16637	0.878000	0.34440	0.245000	0.25701	0.228000	0.17814	0.821000	0.34540	0.655000	0.94253	GAG		0.537	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1		NM_006928		19	71	0	0	0	1	0	19	71		
PAN2	9924	broad.mit.edu	37	12	56722102	56722102	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:56722102C>T	ENST00000425394.2	-	4	869	c.493G>A	c.(493-495)Gac>Aac	p.D165N	PAN2_ENST00000257931.5_Missense_Mutation_p.D165N|PAN2_ENST00000440411.3_Missense_Mutation_p.D165N|PAN2_ENST00000548043.1_Missense_Mutation_p.D165N	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	GTGCTGCTGTCAGTCAGTAGG	0.512																																						uc001skx.2		NaN																	0				ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(493-495)GAC>AAC		PAN2 polyA specific ribonuclease subunit homolog							145.0	136.0	139.0					12																	56722102		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56722102C>T	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.493G>A	12.37:g.56722102C>T	ENSP00000401721:p.Asp165Asn					PAN2_uc001skz.2_Missense_Mutation_p.D165N|PAN2_uc001sky.2_Missense_Mutation_p.D165N	p.D165N	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			4	866	-			165						Missense_Mutation	SNP	ENST00000425394.2	37	c.493G>A	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124161	0.37533	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043;ENST00000547572	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	4.7	4.7	0.59300	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.051037	0.85682	D	0.000000	T	0.36771	0.0979	L	0.42245	1.32	0.45852	D	0.998711	B;B;B	0.18310	0.027;0.011;0.016	B;B;B	0.17979	0.02;0.02;0.009	T	0.11743	-1.0575	10	0.22109	T	0.4	-14.5364	16.9407	0.86217	0.0:1.0:0.0:0.0	.	165;165;165	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	N	165;165;165;165;26	ENSP00000401721:D165N;ENSP00000388231:D165N;ENSP00000257931:D165N;ENSP00000449861:D165N;ENSP00000449092:D26N	ENSP00000257931:D165N	D	-	1	0	PAN2	55008369	0.998000	0.40836	0.976000	0.42696	0.846000	0.48090	3.831000	0.55776	2.601000	0.87937	0.655000	0.94253	GAC		0.512	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1		NM_014871		50	130	0	0	0	1	0	50	130		
HSD17B6	8630	broad.mit.edu	37	12	57181045	57181045	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:57181045C>T	ENST00000554643.1	+	6	1222	c.873C>T	c.(871-873)ttC>ttT	p.F291F	HSD17B6_ENST00000555805.1_Silent_p.F291F|HSD17B6_ENST00000554150.1_Silent_p.F291F|HSD17B6_ENST00000555159.1_Silent_p.F291F|HSD17B6_ENST00000322165.1_Silent_p.F291F			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	291					androgen biosynthetic process (GO:0006702)|androgen catabolic process (GO:0006710)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|intracellular (GO:0005622)|membrane (GO:0016020)	catalytic activity (GO:0003824)|electron carrier activity (GO:0009055)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|oxidoreductase activity (GO:0016491)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	AATTTTTCTTCATCCCTCTAT	0.473																																						uc001smg.1		NaN																	0				upper_aerodigestive_tract(1)|pancreas(1)	2						c.(871-873)TTC>TTT		hydroxysteroid (17-beta) dehydrogenase 6	Succinic acid(DB00139)						111.0	90.0	97.0					12																	57181045		2203	4300	6503	SO:0001819	synonymous_variant	8630				androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr12:57181045C>T	AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	1.1.1.62, 1.1.1.63, 1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	23316	protein-coding gene	gene with protein product	"""oxidative 3-alpha-hydroxysteroid-dehydrogenase"", ""3(alpha->beta)-hydroxysteroid epimerasel"", ""retinol dehydrogenase"", ""oxidoreductase"", ""NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase"", ""3-hydroxysteroid epimerase"", ""short chain dehydrogenase/reductase family 9C, member 6"""	606623	"""hydroxysteroid (17-beta) dehydrogenase 6"", ""hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)"""			11165032, 19027726	Standard	XM_005269207		Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	ENST00000554643.1:c.873C>T	12.37:g.57181045C>T							p.F291F	NM_003725	NP_003716	O14756	H17B6_HUMAN			5	983	+			291					O43275	Silent	SNP	ENST00000554643.1	37	c.873C>T	CCDS8925.1																																																																																				0.473	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410714.1		NM_003725		11	46	0	0	0	1	0	11	46		
HELB	92797	broad.mit.edu	37	12	66718772	66718772	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:66718772G>A	ENST00000247815.4	+	11	2595	c.2536G>A	c.(2536-2538)Gat>Aat	p.D846N		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	846					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GGATGTAACTGATGTAACTTT	0.328																																						uc001sti.2		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(2536-2538)GAT>AAT		helicase (DNA) B							140.0	137.0	138.0					12																	66718772		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66718772G>A	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2536G>A	12.37:g.66718772G>A	ENSP00000247815:p.Asp846Asn					HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	p.D846N	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	11	2564	+			846					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.2536G>A	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616266	0.46631	.	.	ENSG00000127311	ENST00000247815	T	0.12672	2.66	5.48	4.58	0.56647	.	0.197069	0.43260	D	0.000583	T	0.16214	0.0390	L	0.58810	1.83	0.33191	D	0.550904	B	0.25390	0.125	B	0.28011	0.085	T	0.06162	-1.0842	9	.	.	.	-34.6948	13.6257	0.62163	0.0759:0.0:0.9241:0.0	.	846	Q8NG08	HELB_HUMAN	N	846	ENSP00000247815:D846N	.	D	+	1	0	HELB	65005039	0.998000	0.40836	0.919000	0.36401	0.751000	0.42716	2.223000	0.42936	2.746000	0.94184	0.655000	0.94253	GAT		0.328	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1				18	56	0	0	0	1	0	18	56		
NAV3	89795	broad.mit.edu	37	12	78569172	78569172	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:78569172G>C	ENST00000397909.2	+	25	5241	c.5068G>C	c.(5068-5070)Gat>Cat	p.D1690H	NAV3_ENST00000228327.6_Missense_Mutation_p.D1690H|NAV3_ENST00000536525.2_Missense_Mutation_p.D1690H|NAV3_ENST00000266692.7_Missense_Mutation_p.D1513H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1690						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGTGGTAATGATGCCGACTC	0.398										HNSCC(70;0.22)																												uc001syp.2		NaN																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(5068-5070)GAT>CAT		neuron navigator 3							98.0	93.0	94.0					12																	78569172		1874	4107	5981	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78569172G>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5068G>C	12.37:g.78569172G>C	ENSP00000381007:p.Asp1690His	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.D1690H|NAV3_uc010sub.1_Missense_Mutation_p.D1176H|NAV3_uc009zsf.2_Missense_Mutation_p.D521H	p.D1690H	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			25	5241	+			1690					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.5068G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.234670|4.234670	0.79800|0.79800	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	D;D;D;D;D|.	0.93712|.	-3.27;-3.27;-3.27;-3.27;-3.27|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.000000|.	0.37577|.	U|.	0.002028|.	T|.	0.75213|.	0.3819|.	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.994;0.999;1.0;1.0|.	D;D;D;D|.	0.76071|.	0.94;0.948;0.987;0.98|.	T|.	0.72883|.	-0.4157|.	10|.	0.87932|.	D|.	0|.	-22.0846|-22.0846	19.5612|19.5612	0.95373|0.95373	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1690;1513;1690;1690|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	H|S	1690;1690;1690;1513;311;319|584	ENSP00000446132:D1690H;ENSP00000381007:D1690H;ENSP00000228327:D1690H;ENSP00000266692:D1513H;ENSP00000448303:D319H|.	ENSP00000228327:D1690H|.	D|X	+|+	1|2	0|2	NAV3|NAV3	77093303|77093303	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.940000|0.940000	0.58332|0.58332	7.964000|7.964000	0.87933|0.87933	2.687000|2.687000	0.91594|0.91594	0.655000|0.655000	0.94253|0.94253	GAT|TGA		0.398	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1		NM_001024383		6	46	0	0	0	1	0	6	46		
MGAT4C	25834	broad.mit.edu	37	12	86373294	86373294	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:86373294C>G	ENST00000604798.1	-	8	2414	c.1210G>C	c.(1210-1212)Gat>Cat	p.D404H	MGAT4C_ENST00000552808.2_Missense_Mutation_p.D404H|MGAT4C_ENST00000549405.2_Missense_Mutation_p.D404H|MGAT4C_ENST00000548651.1_Missense_Mutation_p.D404H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.D433H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.D404H			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	404					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGCAAAATATCATTTTGCCGA	0.328																																						uc001tai.3		NaN																	0				ovary(3)	3						c.(1210-1212)GAT>CAT		alpha-1,3-mannosyl-glycoprotein							78.0	77.0	77.0					12																	86373294		2203	4300	6503	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86373294C>G		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.1210G>C	12.37:g.86373294C>G	ENSP00000474896:p.Asp404His					MGAT4C_uc001tal.3_Missense_Mutation_p.D404H|MGAT4C_uc001taj.3_Missense_Mutation_p.D404H|MGAT4C_uc001tak.3_Missense_Mutation_p.D404H|MGAT4C_uc010sum.1_Missense_Mutation_p.D428H|MGAT4C_uc001tah.3_Missense_Mutation_p.D404H	p.D404H	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN			8	2460	-			404			Lumenal (Potential).		B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.1210G>C	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166993	0.38217	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651	T;T;T;T;T	0.47528	0.9;0.84;0.9;0.9;0.9	5.76	5.76	0.90799	.	0.052111	0.64402	D	0.000001	T	0.73305	0.3570	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74708	-0.3574	10	0.54805	T	0.06	-11.8911	19.9607	0.97248	0.0:1.0:0.0:0.0	.	433;404	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	H	404;433;404;404;404;404	ENSP00000331664:D404H;ENSP00000376900:D433H;ENSP00000449022:D404H;ENSP00000446647:D404H;ENSP00000447253:D404H	ENSP00000331664:D404H	D	-	1	0	MGAT4C	84897425	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	7.814000	0.86154	2.713000	0.92767	0.585000	0.79938	GAT		0.328	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2		NM_013244		14	28	0	0	0	1	0	14	28		
CFAP54	144535	broad.mit.edu	37	12	97157951	97157951	+	Missense_Mutation	SNP	C	C	T	rs537859109		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:97157951C>T	ENST00000524981.4	+	59	8086	c.8063C>T	c.(8062-8064)tCt>tTt	p.S2688F				Q96N23	CL055_HUMAN		0																	AGAAGTAGTTCTGTTAAAGAA	0.333																																						uc001tet.1		NaN																	0				skin(6)|ovary(1)	7						c.(3337-3339)TCT>TTT		hypothetical protein LOC374467							114.0	113.0	113.0					12																	97157951		2203	4300	6503	SO:0001583	missense	374467							g.chr12:97157951C>T																												ENST00000524981.4:c.8063C>T	12.37:g.97157951C>T	ENSP00000431759:p.Ser2688Phe						p.S1113F	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			26	3416	+			1113						Missense_Mutation	SNP	ENST00000524981.4	37	c.3338C>T		.	.	.	.	.	.	.	.	.	.	C	16.37	3.103286	0.56183	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.48	3.6	0.41247	.	0.493383	0.18902	N	0.128011	T	0.38957	0.1060	L	0.54323	1.7	0.09310	N	1	P	0.50066	0.931	P	0.50590	0.645	T	0.28586	-1.0039	9	0.72032	D	0.01	-15.5806	4.8034	0.13308	0.1561:0.6114:0.1509:0.0815	.	1113	Q6ZTY8	CL063_HUMAN	F	2688;1113	.	ENSP00000345466:S1113F	S	+	2	0	C12orf63	95682082	0.942000	0.31987	0.962000	0.40283	0.206000	0.24218	1.497000	0.35649	1.264000	0.44198	0.561000	0.74099	TCT		0.333	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4				4	22	0	0	0	1	0	4	22		
ACTR6	64431	broad.mit.edu	37	12	100612202	100612202	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:100612202G>A	ENST00000188312.2	+	9	1525	c.760G>A	c.(760-762)Gag>Aag	p.E254K	ACTR6_ENST00000552376.1_Missense_Mutation_p.E254K|ACTR6_ENST00000551617.1_Missense_Mutation_p.E172K|ACTR6_ENST00000546902.1_Missense_Mutation_p.E172K	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	254						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						GCCAAGGGAAGAGATGGTGTT	0.313																																						uc001thb.1		NaN																	0				ovary(1)	1						c.(760-762)GAG>AAG		ARP6 actin-related protein 6 homolog							76.0	74.0	74.0					12																	100612202		2203	4300	6503	SO:0001583	missense	64431					cytoplasm|cytoskeleton		g.chr12:100612202G>A	AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.760G>A	12.37:g.100612202G>A	ENSP00000188312:p.Glu254Lys					ACTR6_uc001thc.1_Missense_Mutation_p.E146K|ACTR6_uc001thd.1_Missense_Mutation_p.E254K|ACTR6_uc009ztu.1_Missense_Mutation_p.E59K|ACTR6_uc001the.1_Missense_Mutation_p.E172K|ACTR6_uc001thf.1_Missense_Mutation_p.E172K|uc001thg.1_Intron	p.E254K	NM_022496	NP_071941	Q9GZN1	ARP6_HUMAN			9	816	+			254					B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Missense_Mutation	SNP	ENST00000188312.2	37	c.760G>A	CCDS9074.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.251052	0.80135	.	.	ENSG00000075089	ENST00000188312;ENST00000546902;ENST00000552376;ENST00000551617	D;D;D;D	0.95949	-3.85;-3.75;-3.86;-3.79	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.93880	0.8042	L	0.45352	1.415	0.80722	D	1	B;B;B;B	0.30146	0.27;0.27;0.138;0.166	B;B;B;B	0.32465	0.037;0.055;0.09;0.146	D	0.92244	0.5803	10	0.66056	D	0.02	.	19.8024	0.96513	0.0:0.0:1.0:0.0	.	172;172;254;254	G3V1Y1;F8VSD1;F8W057;Q9GZN1	.;.;.;ARP6_HUMAN	K	254;172;254;172	ENSP00000188312:E254K;ENSP00000448669:E172K;ENSP00000447237:E254K;ENSP00000448356:E172K	ENSP00000188312:E254K	E	+	1	0	ACTR6	99136333	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.052000	0.93855	2.752000	0.94435	0.655000	0.94253	GAG		0.313	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408159.1		NM_022496		7	55	0	0	0	1	0	7	55		
UTP20	27340	broad.mit.edu	37	12	101684562	101684562	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:101684562C>G	ENST00000261637.4	+	8	961	c.787C>G	c.(787-789)Caa>Gaa	p.Q263E		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	263					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AACAGAAACTCAACTACCATG	0.343																																						uc001tia.1		NaN																	0				ovary(2)|breast(2)	4						c.(787-789)CAA>GAA		down-regulated in metastasis							137.0	127.0	130.0					12																	101684562		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101684562C>G	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.787C>G	12.37:g.101684562C>G	ENSP00000261637:p.Gln263Glu					UTP20_uc009ztz.1_Missense_Mutation_p.Q263E	p.Q263E	NM_014503	NP_055318	O75691	UTP20_HUMAN			8	943	+			263					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.787C>G	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	c	0.023	-1.399287	0.01165	.	.	ENSG00000120800	ENST00000261637	T	0.62105	0.05	5.36	3.36	0.38483	Armadillo-type fold (1);	0.635944	0.16415	N	0.215416	T	0.38931	0.1059	N	0.20401	0.57	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24190	-1.0167	10	0.02654	T	1	-6.7905	8.6144	0.33822	0.2328:0.3755:0.3917:0.0	.	263	O75691	UTP20_HUMAN	E	263	ENSP00000261637:Q263E	ENSP00000261637:Q263E	Q	+	1	0	UTP20	100208693	0.001000	0.12720	0.643000	0.29450	0.073000	0.16967	1.151000	0.31651	1.208000	0.43306	0.650000	0.86243	CAA		0.343	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1		NM_014503		17	58	0	0	0	1	0	17	58		
TDG	6996	broad.mit.edu	37	12	104377149	104377149	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:104377149G>C	ENST00000392872.3	+	7	1008	c.774G>C	c.(772-774)aaG>aaC	p.K258N	TDG_ENST00000266775.9_Missense_Mutation_p.K254N|TDG_ENST00000542036.1_Missense_Mutation_p.K54N|TDG_ENST00000544861.1_Missense_Mutation_p.K115N|AC078819.1_ENST00000401157.1_RNA	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	258					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AGCCCCATAAGATTCCAGACA	0.289								Base excision repair (BER), DNA glycosylases																														uc001tkg.2		NaN																	0				ovary(3)|lung(3)	6						c.(772-774)AAG>AAC	BER_DNA_glycosylases	thymine-DNA glycosylase							38.0	40.0	39.0					12																	104377149		2185	4280	6465	SO:0001583	missense	6996				depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	g.chr12:104377149G>C	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.774G>C	12.37:g.104377149G>C	ENSP00000376611:p.Lys258Asn					TDG_uc009zuk.2_Missense_Mutation_p.K254N|TDG_uc010swi.1_Missense_Mutation_p.K115N|TDG_uc010swj.1_Missense_Mutation_p.K46N	p.K258N	NM_003211	NP_003202	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	7	997	+			258					Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	c.774G>C	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.933314	0.52866	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000537100;ENST00000542036	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.95;0.95	5.4	5.4	0.78164	Uracil-DNA glycosylase-like (3);	0.046339	0.85682	D	0.000000	T	0.43299	0.1241	L	0.60845	1.875	0.47476	D	0.999439	P;P;P	0.41345	0.746;0.49;0.69	B;B;B	0.33690	0.155;0.069;0.168	T	0.43507	-0.9387	10	0.39692	T	0.17	-24.9455	9.2035	0.37275	0.2026:0.0:0.7974:0.0	.	54;258;258	B4DI29;B2R848;Q13569	.;.;TDG_HUMAN	N	258;254;115;251;54	ENSP00000376611:K258N;ENSP00000266775:K254N;ENSP00000445899:K115N;ENSP00000439825:K251N;ENSP00000439054:K54N	ENSP00000266775:K254N	K	+	3	2	TDG	102901279	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.245000	0.32790	2.518000	0.84900	0.563000	0.77884	AAG		0.289	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2				7	49	0	0	0	1	0	7	49		
TXNRD1	7296	broad.mit.edu	37	12	104719163	104719163	+	Nonsense_Mutation	SNP	C	C	T	rs187437891		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:104719163C>T	ENST00000529546.1	+	8	925	c.700C>T	c.(700-702)Cag>Tag	p.Q234*	TXNRD1_ENST00000542918.1_Nonsense_Mutation_p.Q322*|TXNRD1_ENST00000524698.1_Nonsense_Mutation_p.Q272*|TXNRD1_ENST00000525566.1_Nonsense_Mutation_p.Q422*|TXNRD1_ENST00000378070.4_Nonsense_Mutation_p.Q371*|TXNRD1_ENST00000540716.1_Nonsense_Mutation_p.Q234*|TXNRD1_ENST00000388854.3_Nonsense_Mutation_p.Q324*|TXNRD1_ENST00000526390.1_Nonsense_Mutation_p.Q316*|TXNRD1_ENST00000354940.6_Nonsense_Mutation_p.Q272*|TXNRD1_ENST00000526950.1_Nonsense_Mutation_p.Q341*|TXNRD1_ENST00000397736.2_Nonsense_Mutation_p.Q316*|TXNRD1_ENST00000427956.1_Nonsense_Mutation_p.Q387*|TXNRD1_ENST00000429002.2_Nonsense_Mutation_p.Q422*|TXNRD1_ENST00000503506.2_Nonsense_Mutation_p.Q272*|TXNRD1_ENST00000526691.1_Nonsense_Mutation_p.Q324*			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	422					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	AGTAGTAGCTCAGTCCACCAA	0.383																																					Ovarian(139;555 1836 9186 9946 10884)	uc010swk.1		NaN																	0					0						c.(1264-1266)CAG>TAG		thioredoxin reductase 1 isoform 3							69.0	65.0	66.0					12																	104719163		1886	4119	6005	SO:0001587	stop_gained	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104719163C>T		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.700C>T	12.37:g.104719163C>T	ENSP00000434919:p.Gln234*					TXNRD1_uc010swl.1_Nonsense_Mutation_p.Q272*|TXNRD1_uc010swm.1_Nonsense_Mutation_p.Q324*|TXNRD1_uc010swn.1_Nonsense_Mutation_p.Q272*|TXNRD1_uc010swo.1_Nonsense_Mutation_p.Q272*|TXNRD1_uc010swp.1_Nonsense_Mutation_p.Q234*|TXNRD1_uc010swq.1_Nonsense_Mutation_p.Q322*|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Nonsense_Mutation_p.Q338*	p.Q422*	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN			11	1286	+			422					B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Nonsense_Mutation	SNP	ENST00000529546.1	37	c.1264C>T	CCDS58274.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990370	0.93106	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000503506;ENST00000526691;ENST00000388854;ENST00000354940;ENST00000526390;ENST00000529546;ENST00000540716;ENST00000524698;ENST00000542918;ENST00000378070;ENST00000397736;ENST00000427956;ENST00000526950	.	.	.	5.5	-1.04	0.10068	.	0.433810	0.28470	N	0.015225	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.9144	18.9251	0.92541	0.7162:0.2838:0.0:0.0	.	.	.	.	X	422;422;272;324;324;272;316;234;234;272;322;371;316;387;341	.	ENSP00000347020:Q272X	Q	+	1	0	TXNRD1	103243293	0.005000	0.15991	0.014000	0.15608	0.087000	0.18053	0.146000	0.16180	-0.596000	0.05821	0.632000	0.83419	CAG		0.383	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389969.1		NM_003330		4	16	0	0	0	1	0	4	16		
TCP11L2	255394	broad.mit.edu	37	12	106729964	106729964	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:106729964C>G	ENST00000299045.3	+	8	1289	c.1115C>G	c.(1114-1116)gCt>gGt	p.A372G		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	372										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						AGGATTTCAGCTGTTCTACTT	0.433																																						uc001tln.2		NaN																	0				ovary(3)	3						c.(1114-1116)GCT>GGT		t-complex 11 (mouse) like 2							110.0	95.0	100.0					12																	106729964		2203	4300	6503	SO:0001583	missense	255394							g.chr12:106729964C>G	BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.1115C>G	12.37:g.106729964C>G	ENSP00000299045:p.Ala372Gly						p.A372G	NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN			8	1289	+			372					B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	37	c.1115C>G	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962310	0.34659	.	.	ENSG00000166046	ENST00000299045	T	0.11169	2.8	5.73	5.73	0.89815	.	0.462809	0.26784	N	0.022504	T	0.09247	0.0228	L	0.34521	1.04	0.80722	D	1	B	0.12630	0.006	B	0.19666	0.026	T	0.23976	-1.0173	10	0.22109	T	0.4	-3.4915	11.2855	0.49220	0.0:0.8901:0.0:0.1099	.	372	Q8N4U5	T11L2_HUMAN	G	372	ENSP00000299045:A372G	ENSP00000299045:A372G	A	+	2	0	TCP11L2	105254094	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	2.052000	0.41316	2.861000	0.98227	0.655000	0.94253	GCT		0.433	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1		NM_152772		14	46	0	0	0	1	0	14	46		
POLR3B	55703	broad.mit.edu	37	12	106770206	106770206	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:106770206G>C	ENST00000228347.4	+	7	696	c.474G>C	c.(472-474)ctG>ctC	p.L158L	POLR3B_ENST00000539066.1_Silent_p.L100L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	158					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTGCCAAACTGAACGAATGTC	0.368																																						uc001tlp.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(472-474)CTG>CTC		DNA-directed RNA polymerase III B isoform 1							141.0	124.0	130.0					12																	106770206		2203	4300	6503	SO:0001819	synonymous_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106770206G>C	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.474G>C	12.37:g.106770206G>C						POLR3B_uc001tlq.2_Silent_p.L100L	p.L158L	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN			7	696	+			158					A8K6H0|B3KV73|F5H1E6|Q9NW59	Silent	SNP	ENST00000228347.4	37	c.474G>C	CCDS9105.1																																																																																				0.368	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1		NM_018082		15	59	0	0	0	1	0	15	59		
VPS29	51699	broad.mit.edu	37	12	110933819	110933819	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:110933819C>T	ENST00000549578.1	-	2	258	c.193G>A	c.(193-195)Gag>Aag	p.E65K	VPS29_ENST00000360579.7_Missense_Mutation_p.E69K|SNORD50_ENST00000365465.1_RNA|VPS29_ENST00000546588.1_Missense_Mutation_p.E97K|VPS29_ENST00000552130.2_5'UTR|VPS29_ENST00000549970.1_5'UTR|VPS29_ENST00000447578.2_5'UTR|VPS29_ENST00000551655.1_5'Flank	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)	65					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphoserine phosphatase activity (GO:0004647)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TACATCACCTCATCGAAGTCT	0.403																																						uc001tqy.2		NaN																	0					0						c.(193-195)GAG>AAG		vacuolar protein sorting 29 isoform 1							133.0	117.0	122.0					12																	110933819		1888	4122	6010	SO:0001583	missense	51699				protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity	g.chr12:110933819C>T	AF193795	CCDS41832.1, CCDS53832.1, CCDS73525.1	12q24	2006-12-19	2006-12-19			ENSG00000111237			14340	protein-coding gene	gene with protein product		606932	"""vacuolar protein sorting 29 (yeast homolog)"", ""vacuolar protein sorting 29 (yeast)"""			11062004	Standard	NM_001282151		Approved	PEP11, DC7, DC15	uc001tqx.3	Q9UBQ0	OTTHUMG00000169527	ENST00000549578.1:c.193G>A	12.37:g.110933819C>T	ENSP00000447058:p.Glu65Lys					VPS29_uc001tqw.2_RNA|VPS29_uc001tqx.2_Missense_Mutation_p.E69K|VPS29_uc001tqz.2_RNA	p.E65K	NM_016226	NP_057310	Q9UBQ0	VPS29_HUMAN			2	253	-			65					Q502Y5|Q6FIF8|Q6IAH3|Q9H0W0|Q9NRP1|Q9NRU7	Missense_Mutation	SNP	ENST00000549578.1	37	c.193G>A	CCDS41832.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221682	0.79464	.	.	ENSG00000111237	ENST00000549578;ENST00000397678;ENST00000546588	T;T	0.17691	2.26;2.26	5.91	5.91	0.95273	Calcineurin-like phosphoesterase superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	M	0.81614	2.55	0.80722	D	1	B;B	0.20671	0.019;0.047	B;B	0.23574	0.047;0.041	T	0.05338	-1.0891	10	0.51188	T	0.08	-3.1714	20.2985	0.98592	0.0:1.0:0.0:0.0	.	65;69	Q9UBQ0;Q9UBQ0-2	VPS29_HUMAN;.	K	65;69;97	ENSP00000447058:E65K;ENSP00000449044:E97K	ENSP00000380795:E69K	E	-	1	0	VPS29	109418202	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.917000	0.69989	2.793000	0.96121	0.655000	0.94253	GAG		0.403	VPS29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404623.1				24	50	0	0	0	1	0	24	50		
FAM109A	144717	broad.mit.edu	37	12	111801049	111801049	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:111801049G>C	ENST00000547838.2	-	2	280	c.183C>G	c.(181-183)atC>atG	p.I61M	FAM109A_ENST00000361483.3_Missense_Mutation_p.I74M|FAM109A_ENST00000548163.1_Missense_Mutation_p.I61M|FAM109A_ENST00000392658.5_Missense_Mutation_p.I61M|FAM109A_ENST00000450786.2_Nonsense_Mutation_p.S42*			Q8N4B1	SESQ1_HUMAN	family with sequence similarity 109, member A	61	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endosome organization (GO:0007032)|receptor recycling (GO:0001881)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|lung(1)|ovary(1)	4						CCTCCAGGATGATGACGCCCA	0.701																																						uc001tsd.3		NaN																	0					0						c.(181-183)ATC>ATG		hypothetical protein LOC144717							31.0	30.0	31.0					12																	111801049		2201	4298	6499	SO:0001583	missense	144717				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity	g.chr12:111801049G>C	BC034809	CCDS9152.1, CCDS53833.1	12q24.12	2013-01-10			ENSG00000198324	ENSG00000198324		"""Pleckstrin homology (PH) domain containing"""	26509	protein-coding gene	gene with protein product		614239				12477932	Standard	NM_144671		Approved	FLJ32356	uc009zvu.3	Q8N4B1	OTTHUMG00000169547	ENST00000547838.2:c.183C>G	12.37:g.111801049G>C	ENSP00000447353:p.Ile61Met					FAM109A_uc009zvu.2_Nonsense_Mutation_p.S42*|FAM109A_uc001tsc.2_Missense_Mutation_p.I84M	p.I61M	NM_144671	NP_653272	Q8N4B1	SESQ1_HUMAN			3	574	-			61			PH.		J3KP50|Q6PJL9|Q96MH8	Missense_Mutation	SNP	ENST00000547838.2	37	c.183C>G	CCDS9152.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.679414|4.679414	0.88542|0.88542	.|.	.|.	ENSG00000198324|ENSG00000198324	ENST00000547838;ENST00000361483;ENST00000392658;ENST00000425655;ENST00000548163;ENST00000547710;ENST00000551863;ENST00000549321|ENST00000450786	D;D;D;D;D;D;D|.	0.84516|.	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86|.	4.14|4.14	2.25|2.25	0.28309|0.28309	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	.|.	.|.	.|.	.|.	T|.	0.72953|.	0.3525|.	M|M	0.87758|0.87758	2.905|2.905	0.40293|0.40293	D|D	0.978527|0.978527	D;D|.	0.71674|.	0.998;0.998|.	D;D|.	0.73380|.	0.98;0.98|.	T|.	0.71567|.	-0.4554|.	9|.	0.87932|0.87932	D|D	0|0	.|.	5.5456|5.5456	0.17061|0.17061	0.1776:0.1645:0.6579:0.0|0.1776:0.1645:0.6579:0.0	.|.	61;61|.	Q8N4B1;B4DRN3|.	SESQ1_HUMAN;.|.	M|X	61;74;61;61;61;61;61;61|42	ENSP00000447353:I61M;ENSP00000354461:I74M;ENSP00000376426:I61M;ENSP00000449994:I61M;ENSP00000447349:I61M;ENSP00000448625:I61M;ENSP00000447539:I61M|.	ENSP00000354461:I74M|ENSP00000390552:S42X	I|S	-|-	3|2	3|0	FAM109A|FAM109A	110285432|110285432	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.995000|0.995000	0.86356|0.86356	1.845000|1.845000	0.39279|0.39279	0.221000|0.221000	0.20879|0.20879	0.561000|0.561000	0.74099|0.74099	ATC|TCA		0.701	FAM109A-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404768.2		NM_144671		13	49	0	0	0	1	0	13	49		
RPH3A	22895	broad.mit.edu	37	12	113304639	113304639	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:113304639G>A	ENST00000389385.4	+	7	935	c.438G>A	c.(436-438)caG>caA	p.Q146Q	RPH3A_ENST00000551052.1_Silent_p.Q142Q|RPH3A_ENST00000543106.2_Silent_p.Q146Q|RPH3A_ENST00000548866.1_Silent_p.Q97Q|RPH3A_ENST00000415485.3_Silent_p.Q146Q|RPH3A_ENST00000447659.2_Silent_p.Q97Q|RPH3A_ENST00000420983.2_Silent_p.Q146Q	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	146	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GCATTGAGCAGAGGGAGGTGA	0.537																																						uc010syl.1		NaN																	0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.(436-438)CAG>CAA		rabphilin 3A homolog isoform 1							119.0	93.0	102.0					12																	113304639		2203	4300	6503	SO:0001819	synonymous_variant	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113304639G>A	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.438G>A	12.37:g.113304639G>A						RPH3A_uc001ttz.2_Silent_p.Q146Q|RPH3A_uc001tty.2_Silent_p.Q142Q|RPH3A_uc009zwe.1_Silent_p.Q142Q|RPH3A_uc010sym.1_Silent_p.Q97Q|RPH3A_uc001tua.2_5'Flank	p.Q146Q	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	7	800	+			146			RabBD.|FYVE-type.		B7Z3C3|Q96AE0	Silent	SNP	ENST00000389385.4	37	c.438G>A	CCDS44979.1																																																																																				0.537	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1		NM_014954		9	17	0	0	0	1	0	9	17		
DDX54	79039	broad.mit.edu	37	12	113599704	113599704	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:113599704C>T	ENST00000306014.5	-	18	2321	c.2294G>A	c.(2293-2295)cGa>cAa	p.R765Q	DDX54_ENST00000549271.1_5'Flank|DDX54_ENST00000314045.7_Missense_Mutation_p.R765Q	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	765					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ATACAGGTCTCGCTTGTAGGA	0.607																																						uc001tup.2		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(2293-2295)CGA>CAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							125.0	121.0	122.0					12																	113599704		2203	4300	6503	SO:0001583	missense	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113599704C>T	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.2294G>A	12.37:g.113599704C>T	ENSP00000304072:p.Arg765Gln					DDX54_uc001tuq.3_Missense_Mutation_p.R765Q	p.R765Q	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN			18	2322	-			765					Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	37	c.2294G>A	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337848	0.60963	.	.	ENSG00000123064	ENST00000314045;ENST00000306014	T;T	0.09445	2.98;2.98	4.74	3.85	0.44370	DBP10CT (2);	0.305004	0.30076	N	0.010475	T	0.08268	0.0206	L	0.34521	1.04	0.30023	N	0.814121	P;P	0.50443	0.801;0.935	B;B	0.42462	0.269;0.388	T	0.11251	-1.0595	10	0.23302	T	0.38	.	8.0589	0.30621	0.0:0.7445:0.0:0.2555	.	765;765	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	Q	765	ENSP00000323858:R765Q;ENSP00000304072:R765Q	ENSP00000304072:R765Q	R	-	2	0	DDX54	112084087	0.973000	0.33851	0.997000	0.53966	0.834000	0.47266	2.019000	0.41001	0.991000	0.38814	0.491000	0.48974	CGA		0.607	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1		NM_024072		41	183	0	0	0	1	0	41	183		
GCN1L1	10985	broad.mit.edu	37	12	120575013	120575013	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:120575013C>T	ENST00000300648.6	-	50	6786	c.6774G>A	c.(6772-6774)aaG>aaA	p.K2258K		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2258					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCTTACCTTCTTCGGGAGGC	0.607																																						uc001txo.2		NaN																	0				ovary(4)	4						c.(6772-6774)AAG>AAA		GCN1 general control of amino-acid synthesis							122.0	128.0	126.0					12																	120575013		2066	4196	6262	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120575013C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.6774G>A	12.37:g.120575013C>T							p.K2258K	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			50	6787	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2258					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.6774G>A	CCDS41847.1																																																																																				0.607	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1				32	104	0	0	0	1	0	32	104		
SRSF9	8683	broad.mit.edu	37	12	120907289	120907289	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:120907289C>T	ENST00000229390.3	-	1	307	c.124G>A	c.(124-126)Gag>Aag	p.E42K	DYNLL1_ENST00000548342.1_5'Flank|DYNLL1_ENST00000392509.2_5'Flank	NM_003769.2	NP_003760.1	Q13242	SRSF9_HUMAN	serine/arginine-rich splicing factor 9	42	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	9						AGCTCGATCTCGCGGATGCGG	0.692																																						uc001tyi.2		NaN																	0					0						c.(124-126)GAG>AAG		splicing factor, arginine/serine-rich 9							56.0	56.0	56.0					12																	120907289		2202	4300	6502	SO:0001583	missense	8683				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|RNA binding	g.chr12:120907289C>T	U30825	CCDS9199.1	12q24.31	2013-02-12	2010-06-22	2010-06-22	ENSG00000111786	ENSG00000111786		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10791	protein-coding gene	gene with protein product	"""SR splicing factor 9"""	601943	"""splicing factor, arginine/serine-rich 9"""	SFRS9		7556075, 20516191	Standard	NM_003769		Approved	SRp30c	uc001tyi.3	Q13242	OTTHUMG00000047790	ENST00000229390.3:c.124G>A	12.37:g.120907289C>T	ENSP00000229390:p.Glu42Lys					SFRS9_uc009zwy.2_Missense_Mutation_p.E42K|DYNLL1_uc001tyj.2_5'Flank	p.E42K	NM_003769	NP_003760	Q13242	SRSF9_HUMAN			1	270	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		42			RRM 1.		Q52LD1	Missense_Mutation	SNP	ENST00000229390.3	37	c.124G>A	CCDS9199.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.28|17.28	3.349664|3.349664	0.61183|0.61183	.|.	.|.	ENSG00000111786|ENSG00000111786	ENST00000229390|ENST00000550458	T|T	0.17370|0.16073	2.28|2.37	4.42|4.42	4.42|4.42	0.53409|0.53409	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.330090|.	0.30869|.	N|.	0.008710|.	T|T	0.07999|0.07999	0.0200|0.0200	N|N	0.03930|0.03930	-0.32|-0.32	0.44194|0.44194	D|D	0.997014|0.997014	B;B|.	0.14805|.	0.011;0.004|.	B;B|.	0.10450|.	0.005;0.005|.	T|T	0.36040|0.36040	-0.9764|-0.9764	10|7	0.23891|0.13470	T|T	0.37|0.59	.|.	9.75|9.75	0.40470|0.40470	0.0:0.9024:0.0:0.0976|0.0:0.9024:0.0:0.0976	.|.	42;42|.	B4DFT9;Q13242|.	.;SRSF9_HUMAN|.	K|Q	42|29	ENSP00000229390:E42K|ENSP00000449030:R29Q	ENSP00000229390:E42K|ENSP00000449030:R29Q	E|R	-|-	1|2	0|0	SRSF9|SRSF9	119391672|119391672	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.965000|3.965000	0.56788|0.56788	2.304000|2.304000	0.77564|0.77564	0.499000|0.499000	0.49734|0.49734	GAG|CGA		0.692	SRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108983.2		NM_003769		18	57	0	0	0	1	0	18	57		
RNF10	9921	broad.mit.edu	37	12	121002980	121002980	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:121002980G>C	ENST00000325954.4	+	11	2232	c.1771G>C	c.(1771-1773)Gag>Cag	p.E591Q	RNF10_ENST00000413266.2_Missense_Mutation_p.E596Q	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	591					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGAAACCCTAGAGATGTTCTC	0.498																																						uc001typ.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1771-1773)GAG>CAG		ring finger protein 10							126.0	122.0	123.0					12																	121002980		2203	4300	6503	SO:0001583	missense	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:121002980G>C	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.1771G>C	12.37:g.121002980G>C	ENSP00000322242:p.Glu591Gln					RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.E502Q	p.E591Q	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN			11	2254	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		591					Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	c.1771G>C	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814354	0.32053	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000546262;ENST00000540046	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	5.93	5.93	0.95920	.	0.159877	0.64402	D	0.000019	T	0.19685	0.0473	L	0.34521	1.04	0.53688	D	0.999979	B;B	0.32467	0.372;0.136	B;B	0.36244	0.22;0.074	T	0.04242	-1.0966	10	0.18276	T	0.48	.	16.5813	0.84715	0.0:0.13:0.87:0.0	.	596;591	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	Q	591;591;596;39;135	ENSP00000322242:E591Q;ENSP00000415682:E596Q;ENSP00000439221:E39Q;ENSP00000439859:E135Q	ENSP00000322242:E591Q	E	+	1	0	RNF10	119487363	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	5.497000	0.66924	2.826000	0.97356	0.655000	0.94253	GAG		0.498	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4				31	84	0	0	0	1	0	31	84		
CABP1	9478	broad.mit.edu	37	12	121098025	121098025	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:121098025G>C	ENST00000316803.3	+	3	846	c.712G>C	c.(712-714)Gac>Cac	p.D238H	CABP1_ENST00000288616.3_Missense_Mutation_p.D95H|CABP1_ENST00000453000.1_Missense_Mutation_p.D174H|CABP1_ENST00000351200.2_Missense_Mutation_p.D35H	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1	238	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAGAGAATTCGACAAGGACAA	0.582																																						uc001tyu.2		NaN																	0				central_nervous_system(1)	1						c.(712-714)GAC>CAC		calcium binding protein 1 isoform 3							109.0	98.0	102.0					12																	121098025		2203	4300	6503	SO:0001583	missense	9478					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding	g.chr12:121098025G>C	AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"""EF-hand domain containing"""	1384	protein-coding gene	gene with protein product	"""calbrain"", ""caldendrin"""	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.712G>C	12.37:g.121098025G>C	ENSP00000317310:p.Asp238His					CABP1_uc001tyv.2_Missense_Mutation_p.D95H|CABP1_uc001tyw.2_Missense_Mutation_p.D35H|CABP1_uc001tyx.2_Missense_Mutation_p.D80H	p.D238H	NM_001033677	NP_001028849	Q9NZU7	CABP1_HUMAN			3	779	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		238	D->A: Loss of magnesium-binding. Loss of binding to ITPRs; when associated with A- 240; A-315; A-317; A-352 and A-354.		1.|EF-hand 1.	Magnesium.	O95663|Q8N6H5|Q9NZU8	Missense_Mutation	SNP	ENST00000316803.3	37	c.712G>C	CCDS31913.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959917	0.92791	.	.	ENSG00000157782	ENST00000316803;ENST00000288616;ENST00000351200;ENST00000453000	D;D;D;D	0.97232	-4.3;-4.3;-4.3;-4.3	5.28	5.28	0.74379	EF-hand-like domain (1);	0.114128	0.64402	D	0.000006	D	0.99233	0.9733	H	0.98883	4.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98698	1.0699	10	0.87932	D	0	-27.516	18.9133	0.92494	0.0:0.0:1.0:0.0	.	174;35;95;238	C9J8G2;Q9NZU7-2;Q9NZU7-1;Q9NZU7	.;.;.;CABP1_HUMAN	H	238;95;35;174	ENSP00000317310:D238H;ENSP00000288616:D95H;ENSP00000288615:D35H;ENSP00000398959:D174H	ENSP00000288616:D95H	D	+	1	0	CABP1	119582408	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.859000	0.99545	2.473000	0.83533	0.579000	0.79373	GAC		0.582	CABP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345822.1		NM_001033677		27	76	0	0	0	1	0	27	76		
MLEC	9761	broad.mit.edu	37	12	121132759	121132759	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:121132759G>A	ENST00000228506.3	+	3	975	c.547G>A	c.(547-549)Gag>Aag	p.E183K	RP11-173P15.3_ENST00000541383.1_RNA|MLEC_ENST00000412616.2_Intron	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	183					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						TGTCCAGGGGGAGGTGTCCAC	0.478																																						uc001tyy.1		NaN																	0				ovary(1)	1						c.(547-549)GAG>AAG		malectin precursor							177.0	180.0	179.0					12																	121132759		2203	4300	6503	SO:0001583	missense	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121132759G>A	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.547G>A	12.37:g.121132759G>A	ENSP00000228506:p.Glu183Lys						p.E183K	NM_014730	NP_055545	Q14165	MLEC_HUMAN			3	698	+			183			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000228506.3	37	c.547G>A	CCDS9206.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.8|29.8	5.040994|5.040994	0.93685|0.93685	.|.	.|.	ENSG00000110917|ENSG00000110917	ENST00000228506;ENST00000545525|ENST00000535656	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	Malectin (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75968|0.75968	0.3922|0.3922	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	P|.	0.48640|.	0.913|.	P|.	0.46237|.	0.508|.	T|T	0.71244|0.71244	-0.4650|-0.4650	9|6	0.19590|0.26408	T|T	0.45|0.33	.|.	19.6371|19.6371	0.95737|0.95737	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	183|.	Q14165|.	MLEC_HUMAN|.	K|E	183;100|79	.|.	ENSP00000228506:E183K|ENSP00000441247:G79E	E|G	+|+	1|2	0|0	MLEC|MLEC	119617142|119617142	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	9.406000|9.406000	0.97321|0.97321	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.478	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2		NM_014730		47	121	0	0	0	1	0	47	121		
OASL	8638	broad.mit.edu	37	12	121465473	121465473	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:121465473C>T	ENST00000257570.5	-	4	1075	c.805G>A	c.(805-807)Gag>Aag	p.E269K	OASL_ENST00000339275.5_Intron	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	269					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACTTCATACTCCAGGAGCAGG	0.438																																					Colon(192;517 2041 31392 31913 39966)	uc001tzj.1		NaN																	0				skin(1)	1						c.(805-807)GAG>AAG		2'-5'-oligoadenylate synthetase-like isoform a							173.0	145.0	155.0					12																	121465473		2203	4300	6503	SO:0001583	missense	8638				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity	g.chr12:121465473C>T	AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.805G>A	12.37:g.121465473C>T	ENSP00000257570:p.Glu269Lys					OASL_uc001tzk.1_Intron	p.E269K	NM_003733	NP_003724	Q15646	OASL_HUMAN			4	811	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		269					B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	ENST00000257570.5	37	c.805G>A	CCDS9211.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129970	0.37630	.	.	ENSG00000135114	ENST00000257570	T	0.39787	1.06	5.58	4.7	0.59300	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	1.147010	0.06455	N	0.728458	T	0.22781	0.0550	N	0.04148	-0.265	0.29032	N	0.885639	B	0.26902	0.163	B	0.23419	0.046	T	0.14337	-1.0476	10	0.12430	T	0.62	-18.1373	10.2577	0.43408	0.0:0.9117:0.0:0.0883	.	269	Q15646	OASL_HUMAN	K	269	ENSP00000257570:E269K	ENSP00000257570:E269K	E	-	1	0	OASL	119949856	0.000000	0.05858	0.014000	0.15608	0.006000	0.05464	0.358000	0.20216	1.600000	0.50102	0.655000	0.94253	GAG		0.438	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2		NM_003733		34	63	0	0	0	1	0	34	63		
ANAPC5	51433	broad.mit.edu	37	12	121757561	121757561	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:121757561G>A	ENST00000261819.3	-	13	1697	c.1576C>T	c.(1576-1578)Cat>Tat	p.H526Y	ANAPC5_ENST00000344395.4_Missense_Mutation_p.H414Y|ANAPC5_ENST00000541887.1_Missense_Mutation_p.H513Y|ANAPC5_ENST00000441917.2_Missense_Mutation_p.H414Y|ANAPC5_ENST00000535482.1_Missense_Mutation_p.H192Y|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	526					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCAGCCAAATGATATTTGCCA	0.333																																						uc001uag.2		NaN																	0				skin(3)|breast(2)|kidney(1)	6						c.(1576-1578)CAT>TAT		anaphase-promoting complex subunit 5 isoform a							82.0	74.0	77.0					12																	121757561		2203	4298	6501	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121757561G>A	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1576C>T	12.37:g.121757561G>A	ENSP00000261819:p.His526Tyr					ANAPC5_uc010szu.1_Missense_Mutation_p.H192Y|ANAPC5_uc001uae.2_Missense_Mutation_p.H90Y|ANAPC5_uc010szv.1_Missense_Mutation_p.H128Y|ANAPC5_uc001uaf.2_RNA|ANAPC5_uc001uah.2_Missense_Mutation_p.H414Y|ANAPC5_uc001uai.1_Missense_Mutation_p.H128Y	p.H526Y	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN			13	1698	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		526			TPR 2.		E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.1576C>T	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555378	0.86231	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	.	.	.	5.24	5.24	0.73138	.	0.048999	0.85682	D	0.000000	T	0.61261	0.2333	L	0.53249	1.67	0.80722	D	1	P;B;D;B	0.53885	0.467;0.256;0.963;0.167	B;B;P;B	0.46796	0.176;0.113;0.527;0.091	T	0.65294	-0.6203	9	0.56958	D	0.05	.	18.1779	0.89767	0.0:0.0:1.0:0.0	.	192;128;414;526	F5H0N1;B4DFK4;E9PFB2;Q9UJX4	.;.;.;APC5_HUMAN	Y	414;513;526;192;128;414	.	ENSP00000261819:H526Y	H	-	1	0	ANAPC5	120241944	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	9.282000	0.95840	2.598000	0.87819	0.563000	0.77884	CAT		0.333	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1				9	16	0	0	0	1	0	9	16		
WDR66	144406	broad.mit.edu	37	12	122441644	122441644	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:122441644G>A	ENST00000288912.4	+	22	4278	c.3424G>A	c.(3424-3426)Gaa>Aaa	p.E1142K		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1142							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AACCATTTCAGAAGATTCCGG	0.433																																					Esophageal Squamous(85;849 1794 49757 52143)	uc009zxk.2		NaN																	0				ovary(1)|skin(1)	2						c.(3424-3426)GAA>AAA		WD repeat domain 66							92.0	87.0	88.0					12																	122441644		1900	4120	6020	SO:0001583	missense	144406						calcium ion binding	g.chr12:122441644G>A	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.3424G>A	12.37:g.122441644G>A	ENSP00000288912:p.Glu1142Lys						p.E1142K	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	22	3566	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		1142					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.3424G>A	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945898	0.73672	.	.	ENSG00000158023	ENST00000288912	T	0.05199	3.48	5.81	0.825	0.18824	.	0.523465	0.20399	N	0.093082	T	0.03520	0.0101	N	0.19112	0.55	0.09310	N	0.999996	B	0.28378	0.209	B	0.26770	0.073	T	0.38373	-0.9664	10	0.54805	T	0.06	.	3.0292	0.06101	0.1512:0.1406:0.4971:0.2111	.	1142	Q8TBY9	WDR66_HUMAN	K	1142	ENSP00000288912:E1142K	ENSP00000288912:E1142K	E	+	1	0	WDR66	120926027	0.341000	0.24801	0.001000	0.08648	0.923000	0.55619	0.923000	0.28757	-0.112000	0.11979	0.655000	0.94253	GAA		0.433	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1		NM_144668		16	58	0	0	0	1	0	16	58		
ZCCHC8	55596	broad.mit.edu	37	12	122983381	122983381	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:122983381G>C	ENST00000336229.4	-	2	365	c.235C>G	c.(235-237)Cga>Gga	p.R79G	ZCCHC8_ENST00000543897.1_5'UTR|ZCCHC8_ENST00000536306.1_5'UTR	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	79					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TACCTCGGTCGAGTCAGAATG	0.294																																						uc001ucn.2		NaN																	0					0						c.(235-237)CGA>GGA		zinc finger, CCHC domain containing 8							125.0	112.0	116.0					12																	122983381		1806	4076	5882	SO:0001583	missense	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122983381G>C	BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.235C>G	12.37:g.122983381G>C	ENSP00000337313:p.Arg79Gly					ZCCHC8_uc009zxp.2_5'UTR|ZCCHC8_uc009zxq.2_5'UTR	p.R79G	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)	2	366	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		79			Potential.		Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37	c.235C>G		.	.	.	.	.	.	.	.	.	.	G	14.44	2.534984	0.45073	.	.	ENSG00000033030	ENST00000336229	T	0.16597	2.33	5.33	3.39	0.38822	.	0.000000	0.85682	D	0.000000	T	0.16727	0.0402	L	0.43152	1.355	0.43683	D	0.996123	B	0.14012	0.009	B	0.12156	0.007	T	0.02966	-1.1088	10	0.48119	T	0.1	-1.9914	14.1618	0.65452	0.0:0.0:0.7184:0.2816	.	79	Q6NZY4	ZCHC8_HUMAN	G	79	ENSP00000337313:R79G	ENSP00000337313:R79G	R	-	1	2	ZCCHC8	121549334	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	3.315000	0.51951	0.661000	0.30985	0.585000	0.79938	CGA		0.294	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_017612		5	14	0	0	0	1	0	5	14		
ABCB9	23457	broad.mit.edu	37	12	123424766	123424766	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:123424766C>T	ENST00000542678.1	-	9	4473	c.1635G>A	c.(1633-1635)aaG>aaA	p.K545K	ABCB9_ENST00000346530.5_Silent_p.K502K|ABCB9_ENST00000344275.7_Silent_p.K545K|ABCB9_ENST00000442833.2_Silent_p.K545K|ABCB9_ENST00000392439.3_Silent_p.K545K|ABCB9_ENST00000280560.8_Silent_p.K545K|ABCB9_ENST00000540285.1_Silent_p.K482K|ABCB9_ENST00000541983.1_5'UTR|ABCB9_ENST00000442028.2_Silent_p.K545K			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	545	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CACAGGAGCTCTTCCCACTGC	0.627																																					Ovarian(49;786 1333 9175 38236)	uc001udm.3		NaN																	0					0						c.(1633-1635)AAG>AAA		ATP-binding cassette, sub-family B (MDR/TAP),							38.0	41.0	40.0					12																	123424766		2203	4300	6503	SO:0001819	synonymous_variant	23457				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr12:123424766C>T	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.1635G>A	12.37:g.123424766C>T						ABCB9_uc010tai.1_Silent_p.K152K|ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Silent_p.K502K|ABCB9_uc010taj.1_Silent_p.K482K|ABCB9_uc001udp.2_Silent_p.K545K|ABCB9_uc001udq.2_Silent_p.K264K|ABCB9_uc001udr.2_Silent_p.K545K	p.K545K	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)	9	1945	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		545			ABC transporter.|ATP (Potential).		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Silent	SNP	ENST00000542678.1	37	c.1635G>A	CCDS9241.1																																																																																				0.627	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1		NM_019624		11	48	0	0	0	1	0	11	48		
SBNO1	55206	broad.mit.edu	37	12	123821011	123821011	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:123821011C>T	ENST00000602398.1	-	6	806	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	SBNO1_ENST00000420886.2_Missense_Mutation_p.E227K|SBNO1_ENST00000602750.1_Missense_Mutation_p.E226K|SBNO1_ENST00000267176.4_Missense_Mutation_p.E226K			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	227					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		tcctctggttcatcatcttct	0.413																																						uc010tap.1		NaN																	0				breast(5)|skin(2)|ovary(1)|kidney(1)	9						c.(679-681)GAA>AAA		sno, strawberry notch homolog 1							156.0	121.0	133.0					12																	123821011		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123821011C>T	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.679G>A	12.37:g.123821011C>T	ENSP00000473665:p.Glu227Lys					SBNO1_uc010tao.1_Missense_Mutation_p.E226K|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.E227K|SBNO1_uc001ueu.2_Missense_Mutation_p.E226K|SBNO1_uc001uev.2_Missense_Mutation_p.E225K|SBNO1_uc009zxy.1_Missense_Mutation_p.E192K	p.E227K	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	5	679	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		227					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.679G>A	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	C	35	5.556855	0.96514	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	T;T	0.32988	1.43;1.43	5.58	5.58	0.84498	.	0.119529	0.56097	D	0.000035	T	0.57388	0.2050	M	0.76170	2.325	0.80722	D	1	D;D;D	0.67145	0.993;0.996;0.974	D;D;D	0.77557	0.971;0.99;0.969	T	0.51903	-0.8646	10	0.32370	T	0.25	-15.8495	19.5647	0.95388	0.0:1.0:0.0:0.0	.	227;226;225	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	K	227;226;226	ENSP00000387361:E227K;ENSP00000267176:E226K	ENSP00000267176:E226K	E	-	1	0	SBNO1	122386964	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.487000	0.81328	2.616000	0.88540	0.655000	0.94253	GAA		0.413	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1		NM_018183		5	28	0	0	0	1	0	5	28		
SETD8	387893	broad.mit.edu	37	12	123889520	123889520	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:123889520C>T	ENST00000402868.3	+	7	1173	c.747C>T	c.(745-747)ctC>ctT	p.L249L	SETD8_ENST00000330479.4_Silent_p.L249L			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	290					histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		ACGGGGACCTCATCGAGATCA	0.537																																						uc001uew.2		NaN																	0					0						c.(745-747)CTC>CTT		SET domain-containing 8							80.0	72.0	75.0					12																	123889520		2203	4300	6503	SO:0001819	synonymous_variant	387893				cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity	g.chr12:123889520C>T	AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"""Chromatin-modifying enzymes / K-methyltransferases"""	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.747C>T	12.37:g.123889520C>T						SETD8_uc001uex.2_Silent_p.L184L	p.L249L	NM_020382	NP_065115	Q9NQR1	SETD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)	7	789	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		290			SET.		A8K9D0|Q86W83|Q8TD09	Silent	SNP	ENST00000402868.3	37	c.747C>T	CCDS9247.1																																																																																				0.537	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318263.1		NM_020382		17	65	0	0	0	1	0	17	65		
DNAH10	196385	broad.mit.edu	37	12	124293452	124293452	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:124293452C>T	ENST00000409039.3	+	18	2767	c.2742C>T	c.(2740-2742)atC>atT	p.I914I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	914	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAAATGAGATCGACAAGATGT	0.488																																						uc001uft.3		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2740-2742)ATC>ATT		dynein, axonemal, heavy chain 10							321.0	274.0	290.0					12																	124293452		2203	4300	6503	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124293452C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.2742C>T	12.37:g.124293452C>T						DNAH10_uc010tav.1_Silent_p.I456I|DNAH10_uc010taw.1_Silent_p.I399I	p.I914I	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	18	2767	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		914			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.2742C>T	CCDS9255.2																																																																																				0.488	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3				78	266	0	0	0	1	0	78	266		
EP400	57634	broad.mit.edu	37	12	132502203	132502203	+	Silent	SNP	G	G	A	rs141645142		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:132502203G>A	ENST00000333577.4	+	21	4264	c.4155G>A	c.(4153-4155)gcG>gcA	p.A1385A	EP400_ENST00000389562.2_Silent_p.A1348A|EP400_ENST00000389561.2_Silent_p.A1349A|EP400_ENST00000332482.4_Silent_p.A1312A|EP400_ENST00000330386.6_Silent_p.A1349A			Q96L91	EP400_HUMAN	E1A binding protein p400	1385					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCTACGTGGCGGGGCCACTGG	0.582																																						uc001ujn.2		NaN																	0				central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(4045-4047)GCG>GCA		E1A binding protein p400		G		1,4405	2.1+/-5.4	0,1,2202	39.0	36.0	37.0		4047	-11.6	0.0	12	dbSNP_134	37	0,8600		0,0,4300	no	coding-synonymous	EP400	NM_015409.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1349/3124	132502203	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132502203G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4155G>A	12.37:g.132502203G>A						EP400_uc001ujl.2_Silent_p.A1348A|EP400_uc001ujm.2_Silent_p.A1349A	p.A1349A	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	19	4082	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1385					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.4047G>A																																																																																					0.582	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015409		22	77	0	0	0	1	0	22	77		
TUBA3C	7278	broad.mit.edu	37	13	19748188	19748188	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:19748188G>A	ENST00000400113.3	-	5	1272	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	390					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGGTCCAGGCGAGCCCAGGCC	0.647																																						uc009zzj.2		NaN																	0				ovary(3)|skin(2)	5						c.(1168-1170)CGC>TGC		tubulin, alpha 3c							110.0	99.0	102.0					13																	19748188		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19748188G>A	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1168C>T	13.37:g.19748188G>A	ENSP00000382982:p.Arg390Cys						p.R390C	NM_006001	NP_005992	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	5	1217	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	390					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.1168C>T	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	13.34	2.207335	0.39003	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.83914	-1.78	1.22	1.22	0.21188	.	0.000000	0.48286	U	0.000183	D	0.84570	0.5501	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	D	0.84188	0.0443	7	0.87932	D	0	.	8.3643	0.32378	0.0:0.0:1.0:0.0	.	.	.	.	C	390	ENSP00000382982:R390C	ENSP00000354037:R390C	R	-	1	0	TUBA3C	18646188	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	6.188000	0.72045	0.982000	0.38575	0.194000	0.17425	CGC		0.647	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2		NM_006001		44	175	0	0	0	1	0	44	175		
ZMYM5	9205	broad.mit.edu	37	13	20413042	20413042	+	Missense_Mutation	SNP	G	G	A	rs370577680		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:20413042G>A	ENST00000337963.4	-	5	934	c.670C>T	c.(670-672)Cgt>Tgt	p.R224C	RP11-61K9.2_ENST00000422148.2_RNA|ZMYM5_ENST00000382907.4_Intron|ZMYM5_ENST00000382905.4_Missense_Mutation_p.R224C	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	224						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTCTGCTTACGAAGTAAGGCC	0.423																																						uc010tcn.1		NaN																	0					0						c.(670-672)CGT>TGT		zinc finger protein 237 isoform 3		G	,CYS/ARG,CYS/ARG	0,4406		0,0,2203	168.0	171.0	170.0		,670,670	1.9	1.0	13		170	2,8598	2.2+/-6.3	0,2,4298	no	intron,missense,missense	ZMYM5	NM_001039649.2,NM_001039650.2,NM_001142684.1	,180,180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,possibly-damaging,possibly-damaging	,224/383,224/670	20413042	2,13004	2203	4300	6503	SO:0001583	missense	9205					nucleus	zinc ion binding	g.chr13:20413042G>A	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.670C>T	13.37:g.20413042G>A	ENSP00000337034:p.Arg224Cys					ZMYM5_uc001umm.1_Missense_Mutation_p.R48C|ZMYM5_uc001umn.2_Missense_Mutation_p.R224C|ZMYM5_uc001umo.2_Intron	p.R224C	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	5	935	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	224					B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37	c.670C>T		.	.	.	.	.	.	.	.	.	.	G	14.81	2.645240	0.47258	0.0	2.33E-4	ENSG00000132950	ENST00000337963;ENST00000502168;ENST00000382905	T;T;T	0.25085	2.18;2.18;1.82	4.67	1.94	0.25998	.	0.162983	0.56097	D	0.000038	T	0.19327	0.0464	N	0.22421	0.69	0.35868	D	0.827984	D;D	0.64830	0.994;0.99	P;P	0.47744	0.54;0.556	T	0.16512	-1.0400	10	0.62326	D	0.03	-3.5578	7.4523	0.27246	0.1454:0.0:0.72:0.1346	.	224;224	Q9UJ78;Q9UJ78-1	ZMYM5_HUMAN;.	C	224;214;224	ENSP00000337034:R224C;ENSP00000445779:R214C;ENSP00000372361:R224C	ENSP00000337034:R224C	R	-	1	0	ZMYM5	19311042	1.000000	0.71417	0.980000	0.43619	0.800000	0.45204	4.190000	0.58365	0.275000	0.22094	0.555000	0.69702	CGT		0.423	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_014242		48	123	0	0	0	1	0	48	123		
N6AMT2	221143	broad.mit.edu	37	13	21331662	21331662	+	Missense_Mutation	SNP	C	C	G	rs200797610	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:21331662C>G	ENST00000382758.1	-	2	123	c.76G>C	c.(76-78)Gag>Cag	p.E26Q	N6AMT2_ENST00000460374.1_5'UTR|N6AMT2_ENST00000382754.4_Missense_Mutation_p.E26Q			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	26						extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TGCTTTTGCTCAGCATAAAAT	0.408																																						uc001uno.1		NaN																	0					0						c.(76-78)GAG>CAG		N-6 adenine-specific DNA methyltransferase 2							153.0	144.0	147.0					13																	21331662		2203	4300	6503	SO:0001583	missense	221143						methyltransferase activity|nucleic acid binding	g.chr13:21331662C>G	AK055408	CCDS9293.1	13q12.11	2006-12-14			ENSG00000150456	ENSG00000150456			27351	protein-coding gene	gene with protein product						12477932	Standard	NM_174928		Approved		uc001uno.1	Q8WVE0	OTTHUMG00000016519	ENST00000382758.1:c.76G>C	13.37:g.21331662C>G	ENSP00000372206:p.Glu26Gln					N6AMT2_uc009zzr.1_Missense_Mutation_p.E26Q|N6AMT2_uc001unp.2_RNA	p.E26Q	NM_174928	NP_777588	Q8WVE0	N6MT2_HUMAN		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)	2	157	-		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)	26					B5G4V1	Missense_Mutation	SNP	ENST00000382758.1	37	c.76G>C	CCDS9293.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208938	0.79240	.	.	ENSG00000150456	ENST00000382758;ENST00000382754	T;T	0.56941	0.43;0.43	5.52	5.52	0.82312	.	0.057309	0.64402	D	0.000002	T	0.74981	0.3788	M	0.83953	2.67	0.58432	D	0.999998	D	0.76494	0.999	D	0.73708	0.981	T	0.77781	-0.2459	10	0.66056	D	0.02	.	17.2775	0.87120	0.0:1.0:0.0:0.0	.	26	Q8WVE0	N6MT2_HUMAN	Q	26	ENSP00000372206:E26Q;ENSP00000372202:E26Q	ENSP00000372202:E26Q	E	-	1	0	N6AMT2	20229662	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	4.826000	0.62715	2.758000	0.94735	0.650000	0.86243	GAG		0.408	N6AMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044083.1		NM_174928		21	59	0	0	0	1	0	21	59		
SACS	26278	broad.mit.edu	37	13	23913064	23913064	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:23913064G>C	ENST00000382292.3	-	9	5224	c.4951C>G	c.(4951-4953)Caa>Gaa	p.Q1651E	SACS_ENST00000382298.3_Missense_Mutation_p.Q1651E|SACS_ENST00000402364.1_Missense_Mutation_p.Q901E			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1651					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GCTTCCTGTTGAGTTCTAAAG	0.388																																						uc001uon.2		NaN																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(4951-4953)CAA>GAA		sacsin							139.0	130.0	133.0					13																	23913064		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23913064G>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4951C>G	13.37:g.23913064G>C	ENSP00000371729:p.Gln1651Glu					SACS_uc001uoo.2_Missense_Mutation_p.Q1504E|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.Q1651E	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	5540	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1651					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.4951C>G	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.197490	0.00299	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.90504	-2.68;-2.68;-2.68	5.84	4.99	0.66335	ATPase-like, ATP-binding domain (1);	0.058911	0.64402	D	0.000002	T	0.69851	0.3157	N	0.00459	-1.475	0.36961	D	0.893364	B	0.02656	0.0	B	0.01281	0.0	T	0.71471	-0.4583	10	0.02654	T	1	.	16.9656	0.86285	0.0:0.1277:0.8723:0.0	.	1651	Q9NZJ4	SACS_HUMAN	E	1651;901;1651	ENSP00000371729:Q1651E;ENSP00000385844:Q901E;ENSP00000371735:Q1651E	ENSP00000371729:Q1651E	Q	-	1	0	SACS	22811064	1.000000	0.71417	0.622000	0.29159	0.081000	0.17604	9.389000	0.97243	1.454000	0.47793	-0.175000	0.13238	CAA		0.388	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3		NM_014363		13	50	0	0	0	1	0	13	50		
GSX1	219409	broad.mit.edu	37	13	28367224	28367224	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:28367224C>T	ENST00000302945.2	+	1	445	c.397C>T	c.(397-399)Cac>Tac	p.H133Y		NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	GS homeobox 1	133					adenohypophysis development (GO:0021984)|hypothalamus development (GO:0021854)|neuron fate commitment (GO:0048663)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		CAGGCAGTTCCACTGCATCTC	0.697																																						uc001urr.1		NaN																	0				ovary(1)	1						c.(397-399)CAC>TAC		GS homeobox 1							6.0	7.0	7.0					13																	28367224		1843	3886	5729	SO:0001583	missense	219409				positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:28367224C>T	AB044157	CCDS9326.1	13q12.2	2012-03-09		2007-07-26	ENSG00000169840	ENSG00000169840		"""Homeoboxes / ANTP class : HOXL subclass"""	20374	protein-coding gene	gene with protein product				GSH1			Standard	NM_145657		Approved	Gsh-1	uc001urr.1	Q9H4S2	OTTHUMG00000016637	ENST00000302945.2:c.397C>T	13.37:g.28367224C>T	ENSP00000304331:p.His133Tyr						p.H133Y	NM_145657	NP_663632	Q9H4S2	GSX1_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)	1	445	+		Lung SC(185;0.0161)	133					Q9UD62	Missense_Mutation	SNP	ENST00000302945.2	37	c.397C>T	CCDS9326.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.074264	0.55646	.	.	ENSG00000169840	ENST00000302945	D	0.95554	-3.74	4.5	4.5	0.54988	Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95140	0.8425	M	0.78916	2.43	0.80722	D	1	D	0.53885	0.963	B	0.43623	0.425	D	0.95768	0.8806	10	0.72032	D	0.01	.	15.75	0.77976	0.0:1.0:0.0:0.0	.	133	Q9H4S2	GSX1_HUMAN	Y	133	ENSP00000304331:H133Y	ENSP00000304331:H133Y	H	+	1	0	GSX1	27265224	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.026000	0.76455	2.045000	0.60652	0.561000	0.74099	CAC		0.697	GSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044309.2		NM_145657		6	23	0	0	0	1	0	6	23		
CSNK1A1L	122011	broad.mit.edu	37	13	37678589	37678589	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:37678589C>G	ENST00000379800.3	-	1	1214	c.805G>C	c.(805-807)Gag>Cag	p.E269Q		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	269	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E269K(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GGGACTTCCTCAAAGCGCAGC	0.443																																						uc001uwm.1		NaN																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	large_intestine(1)	1						c.(805-807)GAG>CAG		casein kinase 1, alpha 1-like							154.0	144.0	147.0					13																	37678589		2203	4300	6503	SO:0001583	missense	122011				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37678589C>G	BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.805G>C	13.37:g.37678589C>G	ENSP00000369126:p.Glu269Gln						p.E269Q	NM_145203	NP_660204	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	1	1213	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	269			Protein kinase.		Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	c.805G>C	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564341	0.65651	.	.	ENSG00000180138	ENST00000379800	T	0.10288	2.89	1.74	1.74	0.24563	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.25382	0.0617	M	0.70108	2.13	0.43107	D	0.994809	D	0.61697	0.99	D	0.64321	0.924	T	0.02617	-1.1133	10	0.87932	D	0	.	9.4321	0.38617	0.0:1.0:0.0:0.0	.	269	Q8N752	KC1AL_HUMAN	Q	269	ENSP00000369126:E269Q	ENSP00000369126:E269Q	E	-	1	0	CSNK1A1L	36576589	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.235000	0.43044	0.871000	0.35750	0.561000	0.74099	GAG		0.443	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1		NM_145203		38	112	0	0	0	1	0	38	112		
VWA8	23078	broad.mit.edu	37	13	42335283	42335283	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:42335283C>G	ENST00000379310.3	-	21	2475	c.2407G>C	c.(2407-2409)Gaa>Caa	p.E803Q	VWA8_ENST00000281496.6_Missense_Mutation_p.E803Q	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	803						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TGAATATATTCTCGGGGTCTG	0.348																																						uc001uyj.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6						c.(2407-2409)GAA>CAA		hypothetical protein LOC23078 isoform a							195.0	193.0	194.0					13																	42335283		2203	4300	6503	SO:0001583	missense	23078					extracellular region	ATP binding|ATPase activity	g.chr13:42335283C>G	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.2407G>C	13.37:g.42335283C>G	ENSP00000368612:p.Glu803Gln					KIAA0564_uc001uyk.2_Missense_Mutation_p.E803Q	p.E803Q	NM_015058	NP_055873	A3KMH1	K0564_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	21	2477	-		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	803					O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.2407G>C	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528936	0.64860	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.29397	1.57;1.57	5.63	5.63	0.86233	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.50429	0.1615	M	0.67569	2.06	0.80722	D	1	D	0.60575	0.988	P	0.61722	0.893	T	0.26467	-1.0102	10	0.17369	T	0.5	.	18.8048	0.92032	0.0:1.0:0.0:0.0	.	803	A3KMH1	K0564_HUMAN	Q	707;803;803	ENSP00000368612:E803Q;ENSP00000281496:E803Q	ENSP00000251030:E707Q	E	-	1	0	KIAA0564	41233283	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.440000	0.73435	2.803000	0.96430	0.650000	0.86243	GAA		0.348	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2		NM_015058		17	84	0	0	0	1	0	17	84		
TPT1	7178	broad.mit.edu	37	13	45912831	45912831	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:45912831C>T	ENST00000530705.1	-	5	780	c.480G>A	c.(478-480)atG>atA	p.M160I	TPT1_ENST00000379060.4_Missense_Mutation_p.M148I|RP11-290D2.6_ENST00000610057.1_RNA|TPT1-AS1_ENST00000520622.1_RNA|TPT1_ENST00000379056.1_Missense_Mutation_p.M126I|TPT1_ENST00000529421.1_5'UTR|TPT1_ENST00000379055.1_Missense_Mutation_p.M126I|SNORA31_ENST00000362607.1_RNA|TPT1-AS1_ENST00000412946.2_RNA|TPT1-AS1_ENST00000521336.1_RNA|TPT1-AS1_ENST00000520310.1_RNA|TPT1-AS1_ENST00000523506.1_RNA|SNORA31_ENST00000517242.1_RNA|TPT1_ENST00000309246.5_Missense_Mutation_p.M160I|TPT1-AS1_ENST00000517509.1_RNA|TPT1-AS1_ENST00000520590.1_RNA			P13693	TCTP_HUMAN	tumor protein, translationally-controlled 1	160					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ectoderm development (GO:2000384)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|regulation of apoptotic process (GO:0042981)|response to virus (GO:0009615)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|multivesicular body (GO:0005771)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			lung(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		TAAAGAAAATCATATATGGGG	0.338																																						uc001uzy.1		NaN																	0					0						c.(478-480)ATG>ATA		tumor protein, translationally-controlled 1							67.0	65.0	66.0					13																	45912831		2203	4300	6503	SO:0001583	missense	7178				anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding	g.chr13:45912831C>T	X16064	CCDS9397.1, CCDS66538.1, CCDS73566.1	13q14	2010-08-18			ENSG00000133112	ENSG00000133112			12022	protein-coding gene	gene with protein product		600763				2813067, 10343127	Standard	NM_001286273		Approved	TCTP, fortilin	uc001uzy.1	P13693	OTTHUMG00000016845	ENST00000530705.1:c.480G>A	13.37:g.45912831C>T	ENSP00000431872:p.Met160Ile					TPT1_uc001uzz.1_Missense_Mutation_p.M126I|SNORA31_uc001vaa.1_5'Flank|LOC100190939_uc010tfr.1_5'Flank|LOC100190939_uc001vac.2_5'Flank	p.M160I	NM_003295	NP_003286	P13693	TCTP_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)	5	573	-		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	160					B2R7E5|Q6YLS2|Q7Z4J4|Q8TBK7|Q96EE2|Q9UC70	Missense_Mutation	SNP	ENST00000530705.1	37	c.480G>A	CCDS9397.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	19.32|19.32	3.805334|3.805334	0.70682|0.70682	.|.	.|.	ENSG00000133112|ENSG00000133112	ENST00000528619;ENST00000530245|ENST00000379056;ENST00000530705;ENST00000379060;ENST00000379055;ENST00000309246;ENST00000527226	.|T;T;T;T;T;T	.|0.43294	.|0.95;0.95;0.95;0.95;0.95;0.95	4.52|4.52	4.52|4.52	0.55395|0.55395	.|Mss4-like (1);Mss4/translationally controlled tumour-associated TCTP (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.42675|0.42675	0.1213|0.1213	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.18561	.|0.022	T|T	0.36311|0.36311	-0.9753|-0.9753	5|10	.|0.41790	.|T	.|0.15	.|.	16.6908|16.6908	0.85321|0.85321	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|160	.|P13693	.|TCTP_HUMAN	N|I	40|126;160;148;126;160;159	.|ENSP00000368345:M126I;ENSP00000431872:M160I;ENSP00000368350:M148I;ENSP00000368344:M126I;ENSP00000339051:M160I;ENSP00000433738:M159I	.|ENSP00000339051:M160I	D|M	-|-	1|3	0|0	TPT1|TPT1	44810831|44810831	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.539000|7.539000	0.82063|0.82063	2.241000|2.241000	0.73720|0.73720	0.650000|0.650000	0.86243|0.86243	GAT|ATG		0.338	TPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044758.3				15	42	0	0	0	1	0	15	42		
TPT1	7178	broad.mit.edu	37	13	45914250	45914250	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:45914250C>G	ENST00000530705.1	-	3	472	c.172G>C	c.(172-174)Gag>Cag	p.E58Q	TPT1_ENST00000379060.4_Missense_Mutation_p.E46Q|RP11-290D2.6_ENST00000610057.1_RNA|TPT1-AS1_ENST00000520622.1_RNA|TPT1_ENST00000379056.1_Missense_Mutation_p.E24Q|TPT1_ENST00000529421.1_5'UTR|TPT1_ENST00000379055.1_Missense_Mutation_p.E24Q|SNORA31_ENST00000362607.1_RNA|TPT1-AS1_ENST00000412946.2_RNA|TPT1-AS1_ENST00000521336.1_RNA|TPT1-AS1_ENST00000520310.1_RNA|TPT1-AS1_ENST00000523506.1_RNA|TPT1_ENST00000309246.5_Missense_Mutation_p.E58Q|TPT1-AS1_ENST00000517509.1_RNA|TPT1-AS1_ENST00000520590.1_RNA			P13693	TCTP_HUMAN	tumor protein, translationally-controlled 1	58					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ectoderm development (GO:2000384)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|regulation of apoptotic process (GO:0042981)|response to virus (GO:0009615)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|multivesicular body (GO:0005771)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			lung(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		CCTTCGCCCTCGGGGCCTTCA	0.448																																						uc001uzy.1		NaN																	0					0						c.(172-174)GAG>CAG		tumor protein, translationally-controlled 1							115.0	107.0	110.0					13																	45914250		2203	4300	6503	SO:0001583	missense	7178				anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding	g.chr13:45914250C>G	X16064	CCDS9397.1, CCDS66538.1, CCDS73566.1	13q14	2010-08-18			ENSG00000133112	ENSG00000133112			12022	protein-coding gene	gene with protein product		600763				2813067, 10343127	Standard	NM_001286273		Approved	TCTP, fortilin	uc001uzy.1	P13693	OTTHUMG00000016845	ENST00000530705.1:c.172G>C	13.37:g.45914250C>G	ENSP00000431872:p.Glu58Gln					TPT1_uc001uzz.1_Missense_Mutation_p.E24Q|SNORA31_uc001vaa.1_5'Flank|TPT1_uc010tfp.1_3'UTR|LOC100190939_uc010tfr.1_5'Flank|LOC100190939_uc001vac.2_5'Flank	p.E58Q	NM_003295	NP_003286	P13693	TCTP_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)	3	265	-		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	58					B2R7E5|Q6YLS2|Q7Z4J4|Q8TBK7|Q96EE2|Q9UC70	Missense_Mutation	SNP	ENST00000530705.1	37	c.172G>C	CCDS9397.1	.	.	.	.	.	.	.	.	.	.	.	20.1	3.931778	0.73442	.	.	ENSG00000133112	ENST00000379056;ENST00000530705;ENST00000379060;ENST00000379055;ENST00000309246;ENST00000527226	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	4.85	3.99	0.46301	Mss4-like (1);Translationally controlled tumour protein, conserved site (1);Mss4/translationally controlled tumour-associated TCTP (1);	0.516487	0.21050	N	0.081003	T	0.61211	0.2329	L	0.50919	1.6	0.54753	D	0.999982	P	0.39404	0.672	P	0.59012	0.85	T	0.60301	-0.7290	10	0.48119	T	0.1	.	13.7295	0.62779	0.1549:0.8451:0.0:0.0	.	58	P13693	TCTP_HUMAN	Q	24;58;46;24;58;57	ENSP00000368345:E24Q;ENSP00000431872:E58Q;ENSP00000368350:E46Q;ENSP00000368344:E24Q;ENSP00000339051:E58Q;ENSP00000433738:E57Q	ENSP00000339051:E58Q	E	-	1	0	TPT1	44812250	0.996000	0.38824	0.845000	0.33349	0.885000	0.51271	3.746000	0.55127	1.127000	0.42034	0.655000	0.94253	GAG		0.448	TPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044758.3				22	81	0	0	0	1	0	22	81		
CPB2	1361	broad.mit.edu	37	13	46658451	46658451	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:46658451C>T	ENST00000181383.4	-	3	194	c.178G>A	c.(178-180)Gac>Aac	p.D60N	CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.D60N|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000415033.2_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	60					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		ACAATAAGGTCAGCTGTTACC	0.378																																						uc001vaw.2		NaN																	0				ovary(1)|skin(1)	2						c.(178-180)GAC>AAC		plasma carboxypeptidase B2 isoform a							111.0	102.0	105.0					13																	46658451		2203	4300	6503	SO:0001583	missense	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46658451C>T	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.178G>A	13.37:g.46658451C>T	ENSP00000181383:p.Asp60Asn					uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Missense_Mutation_p.D60N	p.D60N	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	3	245	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	60					A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	ENST00000181383.4	37	c.178G>A	CCDS9401.1	.	.	.	.	.	.	.	.	.	.	C	9.314	1.056295	0.19907	.	.	ENSG00000080618	ENST00000181383;ENST00000439329	T;T	0.29397	1.57;1.57	5.27	5.27	0.74061	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.498034	0.24415	N	0.038736	T	0.15305	0.0369	N	0.03608	-0.345	0.32122	N	0.587859	B;B	0.11235	0.003;0.004	B;B	0.14023	0.007;0.01	T	0.09250	-1.0683	10	0.22109	T	0.4	.	14.7484	0.69505	0.0:1.0:0.0:0.0	.	60;60	Q96IY4-2;Q96IY4	.;CBPB2_HUMAN	N	60	ENSP00000181383:D60N;ENSP00000400714:D60N	ENSP00000181383:D60N	D	-	1	0	CPB2	45556452	0.996000	0.38824	0.950000	0.38849	0.027000	0.11550	4.218000	0.58554	2.606000	0.88127	0.650000	0.86243	GAC		0.378	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2		NM_001872		24	53	0	0	0	1	0	24	53		
ESD	2098	broad.mit.edu	37	13	47356852	47356852	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:47356852C>T	ENST00000378720.3	-	6	513	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	ESD_ENST00000495654.1_5'UTR|ESD_ENST00000378697.1_Missense_Mutation_p.E82K	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	111					formaldehyde catabolic process (GO:0046294)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carboxylic ester hydrolase activity (GO:0052689)|hydrolase activity, acting on ester bonds (GO:0016788)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)|S-formylglutathione hydrolase activity (GO:0018738)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	CAAGGATCTTCAGTGGCATCA	0.378																																						uc001vbn.2		NaN																	0				ovary(1)	1						c.(331-333)GAA>AAA		esterase D/formylglutathione hydrolase	Glutathione(DB00143)						141.0	140.0	140.0					13																	47356852		2203	4299	6502	SO:0001583	missense	2098					cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity	g.chr13:47356852C>T	M13450	CCDS9404.1	13q14.1-q14.2	2014-05-13	2010-05-07		ENSG00000139684	ENSG00000139684	3.1.2.12		3465	protein-coding gene	gene with protein product	"""S-formylglutathione hydrolase"""	133280	"""esterase D/formylglutathione hydrolase"""				Standard	NM_001984		Approved		uc001vbn.3	P10768	OTTHUMG00000016878	ENST00000378720.3:c.331G>A	13.37:g.47356852C>T	ENSP00000367992:p.Glu111Lys					ESD_uc001vbo.2_Missense_Mutation_p.E111K|ESD_uc001vbp.1_5'Flank	p.E111K	NM_001984	NP_001975	P10768	ESTD_HUMAN		GBM - Glioblastoma multiforme(144;2.66e-05)	6	514	-		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	111					Q5TBU8|Q5TBV0|Q5TBV2|Q9BVJ2	Missense_Mutation	SNP	ENST00000378720.3	37	c.331G>A	CCDS9404.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679097	0.47886	.	.	ENSG00000139684	ENST00000378720;ENST00000378697	T;T	0.32753	1.44;1.44	6.16	4.44	0.53790	.	0.100352	0.64402	N	0.000002	T	0.30792	0.0776	L	0.57130	1.785	0.49483	D	0.999793	B	0.14012	0.009	B	0.15870	0.014	T	0.06320	-1.0833	10	0.51188	T	0.08	-27.4125	11.4482	0.50136	0.0:0.8068:0.1262:0.067	.	111	P10768	ESTD_HUMAN	K	111;82	ENSP00000367992:E111K;ENSP00000367969:E82K	ENSP00000367969:E82K	E	-	1	0	ESD	46254853	1.000000	0.71417	0.999000	0.59377	0.605000	0.37080	4.157000	0.58144	0.932000	0.37266	-0.181000	0.13052	GAA		0.378	ESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044826.1				18	75	0	0	0	1	0	18	75		
FNDC3A	22862	broad.mit.edu	37	13	49710506	49710506	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:49710506G>C	ENST00000492622.2	+	6	834	c.529G>C	c.(529-531)Gaa>Caa	p.E177Q	FNDC3A_ENST00000398316.3_Missense_Mutation_p.E121Q|FNDC3A_ENST00000541916.1_Missense_Mutation_p.E177Q	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	177					fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CTTTAGAGATGAACGATCTAG	0.378																																						uc001vcm.2		NaN																	0				lung(2)	2						c.(529-531)GAA>CAA		fibronectin type III domain containing 3A							64.0	62.0	63.0					13																	49710506		2203	4300	6503	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49710506G>C	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.529G>C	13.37:g.49710506G>C	ENSP00000417257:p.Glu177Gln					FNDC3A_uc001vcl.1_Missense_Mutation_p.E177Q|FNDC3A_uc001vcn.2_Missense_Mutation_p.E177Q|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.E121Q|FNDC3A_uc001vcq.2_Missense_Mutation_p.E121Q	p.E177Q	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	6	834	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	177					B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.529G>C	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695437	0.68386	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.34275	1.43;1.43;1.37	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000001	T	0.56202	0.1969	M	0.67397	2.05	0.58432	D	0.999996	D;D;B	0.63046	0.966;0.992;0.267	P;P;B	0.61003	0.766;0.882;0.07	T	0.49995	-0.8879	10	0.33940	T	0.23	-27.7862	18.6226	0.91326	0.0:0.0:1.0:0.0	.	121;177;177	Q9Y2H6-2;G5E9X3;Q9Y2H6	.;.;FND3A_HUMAN	Q	177;113;177;121	ENSP00000417257:E177Q;ENSP00000441831:E177Q;ENSP00000381362:E121Q	ENSP00000338579:E113Q	E	+	1	0	FNDC3A	48608507	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.526000	0.81920	2.638000	0.89438	0.563000	0.77884	GAA		0.378	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2		NM_014923		12	40	0	0	0	1	0	12	40		
KCNRG	283518	broad.mit.edu	37	13	50590174	50590174	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:50590174C>G	ENST00000312942.1	+	1	785	c.545C>G	c.(544-546)tCt>tGt	p.S182C	KCNRG_ENST00000360473.4_Missense_Mutation_p.S182C|TRIM13_ENST00000378182.3_3'UTR|TRIM13_ENST00000478111.1_Intron	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	182					protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		CAGTGTGGTTCTGACAGCACT	0.428																																						uc001vdu.2		NaN																	0					0						c.(544-546)TCT>TGT		potassium channel regulator isoform 1							72.0	63.0	66.0					13																	50590174		2199	4297	6496	SO:0001583	missense	283518					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity	g.chr13:50590174C>G		CCDS9424.1, CCDS41889.1	13q14.11	2008-05-02			ENSG00000198553	ENSG00000198553			18893	protein-coding gene	gene with protein product							Standard	NM_173605		Approved		uc001vdu.3	Q8N5I3	OTTHUMG00000140140	ENST00000312942.1:c.545C>G	13.37:g.50590174C>G	ENSP00000324191:p.Ser182Cys					DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.2_Missense_Mutation_p.S182C|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	p.S182C	NM_173605	NP_775876	Q8N5I3	KCNRG_HUMAN		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)	1	785	+		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	182					A2A2X9|Q0P6D0|Q8IU75|Q8N3Q9	Missense_Mutation	SNP	ENST00000312942.1	37	c.545C>G	CCDS9424.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844506	0.71488	.	.	ENSG00000198553	ENST00000360473;ENST00000312942	T;T	0.55588	1.06;0.51	6.01	6.01	0.97437	.	0.347884	0.29225	N	0.012778	T	0.63105	0.2483	L	0.29908	0.895	0.38114	D	0.937657	D;D	0.89917	0.998;1.0	P;D	0.69479	0.87;0.964	T	0.65014	-0.6271	10	0.54805	T	0.06	.	18.6955	0.91599	0.0:1.0:0.0:0.0	.	182;182	Q8N5I3;Q8N5I3-2	KCNRG_HUMAN;.	C	182	ENSP00000353661:S182C;ENSP00000324191:S182C	ENSP00000324191:S182C	S	+	2	0	KCNRG	49488175	0.992000	0.36948	0.995000	0.50966	0.881000	0.50899	2.778000	0.47726	2.860000	0.98153	0.609000	0.83330	TCT		0.428	KCNRG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276308.1				14	47	0	0	0	1	0	14	47		
PCDH17	27253	broad.mit.edu	37	13	58207697	58207697	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:58207697C>G	ENST00000377918.3	+	1	1043	c.1017C>G	c.(1015-1017)gtC>gtG	p.V339V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	339	Cadherin 3. {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)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AAGTCACGGTCAAGCTCATCG	0.642																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NaN																	0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(1015-1017)GTC>GTG		protocadherin 17 precursor							82.0	79.0	80.0					13																	58207697		2203	4300	6503	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207697C>G	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1017C>G	13.37:g.58207697C>G						PCDH17_uc010aec.1_Silent_p.V339V	p.V339V	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1909	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	339			Extracellular (Potential).|Cadherin 3.		A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.1017C>G	CCDS31986.1																																																																																				0.642	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1		NM_001040429		42	108	0	0	0	1	0	42	108		
DIAPH3	81624	broad.mit.edu	37	13	60584692	60584692	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:60584692C>A	ENST00000400324.4	-	8	1103	c.883G>T	c.(883-885)Gta>Tta	p.V295L	DIAPH3_ENST00000400320.1_Missense_Mutation_p.V249L|DIAPH3_ENST00000267215.4_Missense_Mutation_p.V295L|DIAPH3_ENST00000377908.2_Missense_Mutation_p.V284L|DIAPH3-AS1_ENST00000422052.1_RNA|DIAPH3-AS1_ENST00000432995.1_RNA|DIAPH3-AS1_ENST00000435636.1_RNA|DIAPH3_ENST00000400330.1_Missense_Mutation_p.V295L|DIAPH3_ENST00000400319.1_Missense_Mutation_p.V225L|DIAPH3_ENST00000465066.1_5'UTR	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	295	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		ACAATGCATACCGCAGAGAGA	0.368																																						uc001vht.2		NaN																	0				ovary(2)	2						c.(883-885)GTA>TTA		diaphanous homolog 3 isoform a							46.0	45.0	45.0					13																	60584692		1853	4098	5951	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60584692C>A	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.883G>T	13.37:g.60584692C>A	ENSP00000383178:p.Val295Leu					DIAPH3_uc001vhu.2_Missense_Mutation_p.V32L|DIAPH3_uc001vhw.1_Missense_Mutation_p.V284L|DIAPH3_uc010aed.1_Missense_Mutation_p.V249L|DIAPH3_uc010aee.1_Missense_Mutation_p.V225L|uc001vhx.2_5'Flank|uc001vhy.2_5'Flank	p.V295L	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	8	1102	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	295			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.883G>T	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	C	9.828	1.187751	0.21954	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	D;D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97;-1.97	5.81	3.76	0.43208	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.234251	0.42294	D	0.000733	T	0.74997	0.3790	L	0.35487	1.065	0.30580	N	0.762586	B;B;B;B;B	0.21452	0.056;0.04;0.04;0.014;0.006	B;B;B;B;B	0.30251	0.113;0.072;0.072;0.016;0.035	T	0.66232	-0.5975	10	0.28530	T	0.3	.	4.3733	0.11258	0.0:0.4768:0.0:0.5232	.	225;249;284;32;295	A8MYX0;C9JL55;C9JDG1;Q9NSV4-1;Q9NSV4	.;.;.;.;DIAP3_HUMAN	L	295;295;284;249;225;284;225;249;295;32;295	ENSP00000383178:V295L;ENSP00000383184:V295L;ENSP00000367141:V284L;ENSP00000383173:V225L;ENSP00000383174:V249L;ENSP00000267215:V295L	ENSP00000267214:V32L	V	-	1	0	DIAPH3	59482693	0.995000	0.38212	0.484000	0.27391	0.976000	0.68499	1.183000	0.32041	1.371000	0.46172	0.591000	0.81541	GTA		0.368	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3		NM_001042517		4	16	1	0	0.150653	1	0.15101	4	16		
KLHL1	57626	broad.mit.edu	37	13	70681477	70681477	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:70681477G>A	ENST00000377844.4	-	1	1114	c.355C>T	c.(355-357)Ctc>Ttc	p.L119F	ATXN8OS_ENST00000424524.1_RNA|ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_5'UTR	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	119					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ACGTAGAAGAGAGTCCTGGCT	0.592																																						uc001vip.2		NaN																	0					0						c.(355-357)CTC>TTC		kelch-like 1 protein							60.0	55.0	57.0					13																	70681477		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70681477G>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.355C>T	13.37:g.70681477G>A	ENSP00000367075:p.Leu119Phe					KLHL1_uc010thm.1_Missense_Mutation_p.L119F|ATXN8OS_uc010aej.1_RNA	p.L119F	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	1	1149	-		Breast(118;0.000162)	119					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.355C>T	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.278857	0.40294	.	.	ENSG00000150361	ENST00000377844	T	0.74209	-0.82	5.35	3.54	0.40534	.	1.011290	0.07954	N	0.981391	T	0.60676	0.2287	N	0.22421	0.69	0.80722	D	1	B;B	0.21381	0.001;0.055	B;B	0.18263	0.001;0.021	T	0.56768	-0.7924	10	0.41790	T	0.15	.	7.8473	0.29433	0.0:0.2867:0.5756:0.1377	.	119;119	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	F	119	ENSP00000367075:L119F	ENSP00000367075:L119F	L	-	1	0	KLHL1	69579478	0.997000	0.39634	0.996000	0.52242	0.980000	0.70556	2.452000	0.44961	2.496000	0.84212	0.655000	0.94253	CTC		0.592	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3		NM_020866		29	75	0	0	0	1	0	29	75		
BORA	79866	broad.mit.edu	37	13	73321094	73321094	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:73321094G>C	ENST00000390667.5	+	10	1424	c.1327G>C	c.(1327-1329)Gat>Cat	p.D443H	BORA_ENST00000377815.3_Missense_Mutation_p.D373H	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	443					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										AGAGATAGCAGATGAGACCAC	0.413																																						uc001viv.1		NaN																	0					0						c.(1327-1329)GAT>CAT		aurora borealis							186.0	174.0	178.0					13																	73321094		1931	4129	6060	SO:0001583	missense	79866				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	g.chr13:73321094G>C	BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.1327G>C	13.37:g.73321094G>C	ENSP00000375082:p.Asp443His					C13orf34_uc010thq.1_Missense_Mutation_p.D218H|C13orf34_uc010aen.1_Missense_Mutation_p.D518H|C13orf34_uc010thr.1_Missense_Mutation_p.D373H|C13orf34_uc001viw.1_Missense_Mutation_p.D392H	p.D443H	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN		GBM - Glioblastoma multiforme(99;0.000227)	10	1446	+		Breast(118;0.0735)	443					B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Missense_Mutation	SNP	ENST00000390667.5	37	c.1327G>C	CCDS9446.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538617	0.65085	.	.	ENSG00000136122	ENST00000377815;ENST00000390667	T;T	0.54279	0.58;0.58	5.7	5.7	0.88788	.	0.405411	0.30611	N	0.009243	T	0.67739	0.2925	L	0.53249	1.67	0.36943	D	0.892499	D;D;D;D	0.71674	0.994;0.99;0.998;0.99	P;P;P;P	0.60473	0.875;0.875;0.875;0.875	T	0.72779	-0.4190	10	0.72032	D	0.01	-10.0534	19.8351	0.96655	0.0:0.0:1.0:0.0	.	373;443;503;443	B4DQ30;A8K631;B5LMG6;Q6PGQ7	.;.;.;BORA_HUMAN	H	373;443	ENSP00000367046:D373H;ENSP00000375082:D443H	ENSP00000367046:D373H	D	+	1	0	BORA	72219095	1.000000	0.71417	0.807000	0.32361	0.430000	0.31655	6.741000	0.74837	2.687000	0.91594	0.655000	0.94253	GAT		0.413	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3		NM_024808		24	87	0	0	0	1	0	24	87		
LMO7	4008	broad.mit.edu	37	13	76408454	76408454	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:76408454G>A	ENST00000321797.8	+	15	3179	c.2458G>A	c.(2458-2460)Gag>Aag	p.E820K	LMO7_ENST00000526202.1_Missense_Mutation_p.E670K|LMO7_ENST00000357063.3_Missense_Mutation_p.E1105K|LMO7_ENST00000377534.3_Missense_Mutation_p.E1105K|LMO7_ENST00000341547.4_Missense_Mutation_p.E771K|LMO7_ENST00000465261.2_Missense_Mutation_p.E820K			Q8WWI1	LMO7_HUMAN	LIM domain 7	1105					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAAAGAGTGGGAGGAAGCCAT	0.418																																						uc001vjv.2		NaN																	0				large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5						c.(2458-2460)GAG>AAG		LIM domain only 7 isoform 2							118.0	109.0	112.0					13																	76408454		2203	4300	6503	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76408454G>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.2458G>A	13.37:g.76408454G>A	ENSP00000317802:p.Glu820Lys					LMO7_uc010thv.1_Missense_Mutation_p.E771K|LMO7_uc001vjt.1_Missense_Mutation_p.E719K|LMO7_uc010thw.1_Missense_Mutation_p.E670K|LMO7_uc001vjw.1_Missense_Mutation_p.E726K	p.E820K	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	14	3218	+		Breast(118;0.0992)	1105			PDZ.		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.2458G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.19|18.19	3.569400|3.569400	0.65765|0.65765	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261|ENST00000447038;ENST00000525914	T;T;T;T;T;T;T|.	0.40756|.	1.62;1.61;1.62;1.03;1.04;1.02;1.03|.	5.57|5.57	4.73|4.73	0.59995|0.59995	PDZ/DHR/GLGF (3);|.	0.196402|.	0.53938|.	N|.	0.000054|.	T|T	0.61640|0.61640	0.2363|0.2363	L|L	0.47190|0.47190	1.495|1.495	0.46131|0.46131	D|D	0.998883|0.998883	B;B;D;B;B|.	0.76494|.	0.026;0.021;0.999;0.026;0.188|.	B;B;D;B;B|.	0.81914|.	0.027;0.016;0.995;0.027;0.211|.	T|T	0.59369|0.59369	-0.7467|-0.7467	10|5	0.32370|.	T|.	0.25|.	-17.1284|-17.1284	14.7963|14.7963	0.69881|0.69881	0.0695:0.0:0.9305:0.0|0.0695:0.0:0.9305:0.0	.|.	670;771;1105;820;1053|.	E9PMS6;Q8WWI1-3;Q8WWI1;E9PLH4;F8J2B5|.	.;.;LMO7_HUMAN;.;.|.	K|E	771;1105;1105;719;820;670;820|728;7	ENSP00000342112:E771K;ENSP00000349571:E1105K;ENSP00000366757:E1105K;ENSP00000366719:E719K;ENSP00000317802:E820K;ENSP00000431129:E670K;ENSP00000433352:E820K|.	ENSP00000317802:E820K|.	E|G	+|+	1|2	0|0	LMO7|LMO7	75306455|75306455	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	5.303000|5.303000	0.65738|0.65738	1.494000|1.494000	0.48533|0.48533	-0.140000|-0.140000	0.14226|0.14226	GAG|GGA		0.418	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3		NM_005358		29	71	0	0	0	1	0	29	71		
MYCBP2	23077	broad.mit.edu	37	13	77736073	77736073	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:77736073C>G	ENST00000544440.2	-	44	6468	c.6451G>C	c.(6451-6453)Gac>Cac	p.D2151H	MYCBP2_ENST00000357337.6_Missense_Mutation_p.D2151H|MYCBP2_ENST00000407578.2_Missense_Mutation_p.D2189H|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATTTCAAGGTCTTCTTCTAAT	0.294																																						uc001vkf.2		NaN																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(6451-6453)GAC>CAC		MYC binding protein 2							80.0	84.0	83.0					13																	77736073		2203	4298	6501	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77736073C>G	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.6451G>C	13.37:g.77736073C>G	ENSP00000444596:p.Asp2151His					MYCBP2_uc010aev.2_Missense_Mutation_p.D1555H	p.D2151H	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	45	6542	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2151						Missense_Mutation	SNP	ENST00000544440.2	37	c.6451G>C		.	.	.	.	.	.	.	.	.	.	C	16.55	3.154416	0.57259	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.31247	1.5;1.5;1.5	5.72	5.72	0.89469	.	0.053884	0.64402	D	0.000001	T	0.45577	0.1349	L	0.27053	0.805	0.58432	D	0.999999	D	0.76494	0.999	D	0.77557	0.99	T	0.31586	-0.9938	10	0.45353	T	0.12	.	19.8938	0.96942	0.0:1.0:0.0:0.0	.	2151	O75592	MYCB2_HUMAN	H	2151;2189;2151	ENSP00000349892:D2151H;ENSP00000384288:D2189H;ENSP00000444596:D2151H	ENSP00000349892:D2151H	D	-	1	0	MYCBP2	76634074	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	6.316000	0.72857	2.703000	0.92315	0.460000	0.39030	GAC		0.294	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1		NM_015057		11	60	0	0	0	1	0	11	60		
FARP1	10160	broad.mit.edu	37	13	99037049	99037049	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:99037049C>T	ENST00000319562.6	+	7	827	c.562C>T	c.(562-564)Cag>Tag	p.Q188*	FARP1_ENST00000595437.1_Nonsense_Mutation_p.Q188*|FARP1_ENST00000376586.2_Nonsense_Mutation_p.Q188*	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	188	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ATACATACCTCAGCAAGACGC	0.418																																						uc001vnj.2		NaN																	0				breast(2)	2						c.(562-564)CAG>TAG		FERM, RhoGEF, and pleckstrin domain protein 1							168.0	146.0	154.0					13																	99037049		2203	4300	6503	SO:0001587	stop_gained	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99037049C>T	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.562C>T	13.37:g.99037049C>T	ENSP00000322926:p.Gln188*					FARP1_uc001vnh.2_Nonsense_Mutation_p.Q188*	p.Q188*	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		7	898	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		188			FERM.		Q5JVI9|Q6IQ29	Nonsense_Mutation	SNP	ENST00000319562.6	37	c.562C>T	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	C	40	7.956311	0.98580	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	.	.	.	5.78	5.78	0.91487	.	0.297159	0.37809	N	0.001932	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	.	.	.	X	188	.	ENSP00000322926:Q188X	Q	+	1	0	FARP1	97835050	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.852000	0.69488	2.894000	0.99253	0.591000	0.81541	CAG		0.418	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3		NM_005766		8	37	0	0	0	1	0	8	37		
DOCK9	23348	broad.mit.edu	37	13	99520266	99520266	+	Splice_Site	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:99520266C>A	ENST00000376460.1	-	29	3171		c.e29-1		DOCK9_ENST00000442173.1_Splice_Site|DOCK9_ENST00000448493.2_Splice_Site|DOCK9_ENST00000339416.2_Splice_Site	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9						blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGAAACATCTCTGTGGAGGAA	0.408																																						uc001vnt.2		NaN																	0				central_nervous_system(1)	1						c.e29-1		dedicator of cytokinesis 9 isoform a							44.0	40.0	41.0					13																	99520266		1869	4101	5970	SO:0001630	splice_region_variant	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99520266C>A	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.3091-1G>T	13.37:g.99520266C>A						DOCK9_uc001vnw.2_Splice_Site_p.R1031_splice|DOCK9_uc001vnv.1_Splice_Site|DOCK9_uc010tir.1_Splice_Site_p.R1032_splice|DOCK9_uc010tis.1_Splice_Site_p.R1031_splice|DOCK9_uc010tit.1_Splice_Site_p.R1032_splice|DOCK9_uc010tiq.1_Splice_Site|DOCK9_uc010afu.1_Splice_Site_p.R878_splice	p.R1032_splice	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN			29	3149	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)							B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Splice_Site	SNP	ENST00000376460.1	37	c.3094_splice	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492623	0.84962	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9253	0.92541	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DOCK9	98318267	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.092000	0.76930	2.540000	0.85666	0.655000	0.94253	.		0.408	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1		NM_015296	Intron	4	19	1	0	0.0215528	1	0.0216679	4	19		
TM9SF2	9375	broad.mit.edu	37	13	100181787	100181787	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:100181787G>A	ENST00000376387.4	+	4	590	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	TM9SF2_ENST00000463709.1_3'UTR	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	134					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					AGAGAAAGCTGAAGACAAACA	0.313																																						uc001voj.1		NaN																	0				ovary(1)	1						c.(400-402)GAA>AAA		transmembrane 9 superfamily member 2 precursor							88.0	90.0	89.0					13																	100181787		2202	4297	6499	SO:0001583	missense	9375				transport	endosome membrane|integral to plasma membrane		g.chr13:100181787G>A	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.400G>A	13.37:g.100181787G>A	ENSP00000365567:p.Glu134Lys					TM9SF2_uc010afz.1_Intron	p.E134K	NM_004800	NP_004791	Q99805	TM9S2_HUMAN			4	533	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)		134			Lumenal (Potential).		A8K399|Q2TAY5	Missense_Mutation	SNP	ENST00000376387.4	37	c.400G>A	CCDS9493.1	.	.	.	.	.	.	.	.	.	.	G	9.979	1.227518	0.22542	.	.	ENSG00000125304	ENST00000376387	T	0.41400	1.0	5.26	5.26	0.73747	.	0.308615	0.34628	N	0.003804	T	0.25568	0.0622	N	0.11651	0.15	0.41505	D	0.988302	B	0.15141	0.012	B	0.19666	0.026	T	0.12708	-1.0537	10	0.06236	T	0.91	-21.088	19.2335	0.93849	0.0:0.0:1.0:0.0	.	134	Q99805	TM9S2_HUMAN	K	134	ENSP00000365567:E134K	ENSP00000365567:E134K	E	+	1	0	TM9SF2	98979788	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.200000	0.58433	2.598000	0.87819	0.650000	0.86243	GAA		0.313	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3				22	31	0	0	0	1	0	22	31		
NALCN	259232	broad.mit.edu	37	13	101997647	101997647	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:101997647C>G	ENST00000251127.6	-	7	850	c.769G>C	c.(769-771)Gag>Cag	p.E257Q	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.E257Q	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	257					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.E257*(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAGCCCAGCTCTTGCCTGCTA	0.418																																						uc001vox.1		NaN																	1	Substitution - Nonsense(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(769-771)GAG>CAG		voltage gated channel like 1							172.0	160.0	164.0					13																	101997647		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101997647C>G	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.769G>C	13.37:g.101997647C>G	ENSP00000251127:p.Glu257Gln					NALCN_uc001voy.2_Intron|NALCN_uc001voz.2_Missense_Mutation_p.E257Q|NALCN_uc001vpa.2_Missense_Mutation_p.E257Q	p.E257Q	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			7	958	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		257			Extracellular (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.769G>C	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736884	0.49045	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98512	-4.97;-4.97	5.9	5.9	0.94986	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.96516	0.8863	L	0.38175	1.15	0.80722	D	1	B;B	0.30146	0.256;0.27	B;B	0.36186	0.212;0.219	D	0.95007	0.8148	10	0.13853	T	0.58	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	257;257	F2Z323;Q8IZF0	.;NALCN_HUMAN	Q	257	ENSP00000251127:E257Q;ENSP00000365367:E257Q	ENSP00000251127:E257Q	E	-	1	0	NALCN	100795648	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.788000	0.95919	0.650000	0.86243	GAG		0.418	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2		NM_052867		45	107	0	0	0	1	0	45	107		
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731																																						uc001vup.2		NaN																	8	Substitution - coding silent(8)		lung(2)|prostate(2)|kidney(2)|central_nervous_system(2)	skin(1)	1						c.(271-273)CTG>TTG		UPF3 regulator of nonsense transcripts homolog A							4.0	4.0	4.0					13																	115047559		1902	3804	5706	SO:0001819	synonymous_variant	65110				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chr13:115047559C>T	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.271C>T	13.37:g.115047559C>T						UPF3A_uc010tkn.1_Silent_p.L91L|UPF3A_uc001vuq.2_Silent_p.L91L|UPF3A_uc001vus.2_RNA|UPF3A_uc001vur.2_RNA	p.L91L	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)	2	308	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	91			Required for interaction with UPF2.		A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	ENST00000375299.3	37	c.271C>T	CCDS9543.1																																																																																				0.731	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2				3	11	0	0	0	1	0	3	11		
OR11H12	440153	broad.mit.edu	37	14	19378098	19378098	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:19378098C>T	ENST00000550708.1	+	1	577	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGTGGATTTCTGTGGTTCCT	0.483																																						uc010tkp.1		NaN																	0				ovary(2)	2						c.(505-507)CTG>TTG		olfactory receptor, family 11, subfamily H,							137.0	150.0	145.0					14																	19378098		2201	4294	6495	SO:0001819	synonymous_variant	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19378098C>T		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.505C>T	14.37:g.19378098C>T							p.L169L	NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	505	+	all_cancers(95;0.00108)		169			Helical; Name=4; (Potential).			Silent	SNP	ENST00000550708.1	37	c.505C>T	CCDS32017.1																																																																																				0.483	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1		NM_001013354		11	274	0	0	0	1	0	11	274		
OR4K2	390431	broad.mit.edu	37	14	20344666	20344666	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:20344666G>C	ENST00000298642.2	+	1	276	c.240G>C	c.(238-240)aaG>aaC	p.K80N		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K80N(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCACCCCAAAGATGATTACAG	0.413																																						uc001vwh.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|skin(2)	4						c.(238-240)AAG>AAC		olfactory receptor, family 4, subfamily K,							264.0	259.0	260.0					14																	20344666		2203	4300	6503	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20344666G>C		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.240G>C	14.37:g.20344666G>C	ENSP00000298642:p.Lys80Asn						p.K80N	NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	240	+	all_cancers(95;0.00108)		80			Extracellular (Potential).		B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.240G>C	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	14.49	2.550374	0.45383	.	.	ENSG00000165762	ENST00000298642	T	0.00469	7.21	5.27	-0.188	0.13264	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000080	T	0.00608	0.0020	M	0.80332	2.49	0.28210	N	0.926966	D	0.55800	0.973	P	0.48770	0.589	T	0.48068	-0.9067	10	0.66056	D	0.02	.	4.4496	0.11614	0.4768:0.0:0.3676:0.1556	.	80	Q8NGD2	OR4K2_HUMAN	N	80	ENSP00000298642:K80N	ENSP00000298642:K80N	K	+	3	2	OR4K2	19414506	0.001000	0.12720	0.993000	0.49108	0.905000	0.53344	-0.463000	0.06696	-0.212000	0.10109	-0.251000	0.11542	AAG		0.413	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1				37	417	0	0	0	1	0	37	417		
OR4K2	390431	broad.mit.edu	37	14	20345153	20345153	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:20345153C>T	ENST00000298642.2	+	1	763	c.727C>T	c.(727-729)Cat>Tat	p.H243Y		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGTACAGCTCATTTCATTGT	0.378																																						uc001vwh.1		NaN																	0				ovary(2)|skin(2)	4						c.(727-729)CAT>TAT		olfactory receptor, family 4, subfamily K,							224.0	210.0	215.0					14																	20345153		2203	4299	6502	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20345153C>T		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.727C>T	14.37:g.20345153C>T	ENSP00000298642:p.His243Tyr						p.H243Y	NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	727	+	all_cancers(95;0.00108)		243			Helical; Name=6; (Potential).		B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.727C>T	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	21.8	4.208355	0.79240	.	.	ENSG00000165762	ENST00000298642	T	0.00314	8.14	5.16	5.16	0.70880	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000103	T	0.01156	0.0038	H	0.95470	3.675	0.46078	D	0.998854	D	0.89917	1.0	D	0.97110	1.0	T	0.49495	-0.8934	10	0.87932	D	0	.	16.183	0.81925	0.0:1.0:0.0:0.0	.	243	Q8NGD2	OR4K2_HUMAN	Y	243	ENSP00000298642:H243Y	ENSP00000298642:H243Y	H	+	1	0	OR4K2	19414993	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.196000	0.77805	2.681000	0.91329	0.591000	0.81541	CAT		0.378	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1				28	214	0	0	0	1	0	28	214		
SUPT16H	11198	broad.mit.edu	37	14	21822578	21822578	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:21822578C>T	ENST00000216297.2	-	23	3120	c.2782G>A	c.(2782-2784)Gag>Aag	p.E928K		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	928	Glu-rich (acidic).				DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		ACCTCACCCTCAGGCTCCAGG	0.478																																						uc001wao.2		NaN																	0					0						c.(2782-2784)GAG>AAG		chromatin-specific transcription elongation							126.0	99.0	108.0					14																	21822578		2203	4300	6503	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21822578C>T	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2782G>A	14.37:g.21822578C>T	ENSP00000216297:p.Glu928Lys					SUPT16H_uc001wan.2_Missense_Mutation_p.E72K	p.E928K	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	23	3121	-	all_cancers(95;0.00115)		928			Glu-rich (acidic).		Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.2782G>A	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642124	0.87859	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.76	5.76	0.90799	Domain of unknown function DUF1747, eukaryote (1);	0.111680	0.64402	D	0.000014	T	0.62768	0.2455	M	0.78916	2.43	0.80722	D	1	P	0.37781	0.608	B	0.27076	0.076	T	0.68610	-0.5363	9	0.56958	D	0.05	-20.8602	18.8056	0.92035	0.0:1.0:0.0:0.0	.	928	Q9Y5B9	SP16H_HUMAN	K	928	.	ENSP00000216297:E928K	E	-	1	0	SUPT16H	20892418	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.958000	0.76025	2.739000	0.93911	0.644000	0.83932	GAG		0.478	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2				8	52	0	0	0	1	0	8	52		
CDH24	64403	broad.mit.edu	37	14	23524350	23524350	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:23524350G>A	ENST00000267383.5	-	2	506	c.414C>T	c.(412-414)atC>atT	p.I138I	CDH24_ENST00000487137.2_Silent_p.I138I|CDH24_ENST00000397359.3_Silent_p.I138I|CDH24_ENST00000554034.1_Silent_p.I138I			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	138	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CTTGCACTTTGATGATGAACT	0.587											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001wil.2		NaN																	0				central_nervous_system(1)	1						c.(412-414)ATC>ATT		cadherin-like 24 isoform 1							85.0	89.0	88.0					14																	23524350		2203	4300	6503	SO:0001819	synonymous_variant	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23524350G>A	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.414C>T	14.37:g.23524350G>A			OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	CDH24_uc010akf.2_Silent_p.I138I|CDH24_uc001win.3_Silent_p.I138I	p.I138I	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	3	674	-	all_cancers(95;3.3e-05)		138			Cadherin 1.|Extracellular (Potential).		D3DS44|Q86UP1|Q9NT84	Silent	SNP	ENST00000267383.5	37	c.414C>T	CCDS9585.1																																																																																				0.587	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2		NM_022478		39	136	0	0	0	1	0	39	136		
ACIN1	22985	broad.mit.edu	37	14	23548985	23548985	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:23548985G>C	ENST00000262710.1	-	6	2060	c.1733C>G	c.(1732-1734)tCt>tGt	p.S578C	ACIN1_ENST00000457657.1_Missense_Mutation_p.S538C|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000605057.1_Missense_Mutation_p.S520C|ACIN1_ENST00000555053.1_Missense_Mutation_p.S578C	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	578	Ser-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGACCGGCTAGAGGATGAATC	0.498																																						uc001wit.3		NaN																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(1732-1734)TCT>TGT		apoptotic chromatin condensation inducer 1							191.0	186.0	187.0					14																	23548985		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23548985G>C	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1733C>G	14.37:g.23548985G>C	ENSP00000262710:p.Ser578Cys					ACIN1_uc001wis.3_Missense_Mutation_p.S260C|ACIN1_uc010akg.2_Missense_Mutation_p.S578C|ACIN1_uc010tnj.1_Missense_Mutation_p.S538C	p.S578C	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	6	2061	-	all_cancers(95;1.36e-05)		578			Ser-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.1733C>G	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.330103	0.60743	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.32023	2.06;1.47;2.06	5.42	4.51	0.55191	.	0.000000	0.40222	N	0.001149	T	0.33789	0.0875	N	0.24115	0.695	0.42656	D	0.993468	D;D;D	0.71674	0.996;0.993;0.998	P;P;P	0.59288	0.855;0.72;0.818	T	0.05989	-1.0852	10	0.72032	D	0.01	-2.4121	10.3271	0.43801	0.0911:0.0:0.9089:0.0	.	578;578;538	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	C	578;538;578	ENSP00000262710:S578C;ENSP00000405677:S538C;ENSP00000451328:S578C	ENSP00000262710:S578C	S	-	2	0	ACIN1	22618825	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.755000	0.47540	2.821000	0.97095	0.650000	0.86243	TCT		0.498	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3		NM_014977		26	131	0	0	0	1	0	26	131		
ACIN1	22985	broad.mit.edu	37	14	23549444	23549444	+	Missense_Mutation	SNP	G	G	C	rs151153498	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:23549444G>C	ENST00000262710.1	-	6	1601	c.1274C>G	c.(1273-1275)tCt>tGt	p.S425C	ACIN1_ENST00000457657.1_Missense_Mutation_p.S385C|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000605057.1_Missense_Mutation_p.S367C|ACIN1_ENST00000555053.1_Missense_Mutation_p.S425C	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	425	Glu-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		AGGTGGTGGAGAAGATGCTTC	0.517																																						uc001wit.3		NaN																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(1273-1275)TCT>TGT		apoptotic chromatin condensation inducer 1							62.0	65.0	64.0					14																	23549444		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23549444G>C	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1274C>G	14.37:g.23549444G>C	ENSP00000262710:p.Ser425Cys					ACIN1_uc001wis.3_Missense_Mutation_p.S107C|ACIN1_uc010akg.2_Missense_Mutation_p.S425C|ACIN1_uc010tnj.1_Missense_Mutation_p.S385C	p.S425C	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	6	1602	-	all_cancers(95;1.36e-05)		425			Glu-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.1274C>G	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400957	0.62177	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.25250	1.81;1.81;1.81	5.27	5.27	0.74061	.	0.000000	0.38381	N	0.001708	T	0.33527	0.0866	N	0.24115	0.695	0.32498	N	0.539292	D;D;D	0.71674	0.996;0.993;0.998	P;P;P	0.61592	0.891;0.781;0.862	T	0.35325	-0.9793	10	0.66056	D	0.02	-1.8445	14.2703	0.66147	0.0:0.0:1.0:0.0	.	425;425;385	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	C	425;385;425	ENSP00000262710:S425C;ENSP00000405677:S385C;ENSP00000451328:S425C	ENSP00000262710:S425C	S	-	2	0	ACIN1	22619284	0.999000	0.42202	0.998000	0.56505	0.814000	0.46013	4.235000	0.58666	2.752000	0.94435	0.650000	0.86243	TCT		0.517	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3		NM_014977		20	65	0	0	0	1	0	20	65		
MYH6	4624	broad.mit.edu	37	14	23863393	23863393	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:23863393C>G	ENST00000356287.3	-	20	2598	c.2569G>C	c.(2569-2571)Gag>Cag	p.E857Q	MYH6_ENST00000405093.3_Missense_Mutation_p.E857Q			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	857					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGCCCGAACTCTTCCTTCATG	0.567																																						uc001wjv.2		NaN																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(2569-2571)GAG>CAG		myosin heavy chain 6							140.0	122.0	128.0					14																	23863393		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23863393C>G	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2569G>C	14.37:g.23863393C>G	ENSP00000348634:p.Glu857Gln						p.E857Q	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	21	2636	-	all_cancers(95;2.54e-05)		857			Potential.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.2569G>C	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	19.75	3.886358	0.72410	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.84944	-1.92;-1.92	4.57	4.57	0.56435	.	.	.	.	.	D	0.92996	0.7771	M	0.85197	2.74	0.52501	D	0.999954	D	0.89917	1.0	D	0.87578	0.998	D	0.93846	0.7141	9	0.56958	D	0.05	.	17.7489	0.88428	0.0:1.0:0.0:0.0	.	857	P13533	MYH6_HUMAN	Q	857	ENSP00000386041:E857Q;ENSP00000348634:E857Q	ENSP00000348634:E857Q	E	-	1	0	MYH6	22933233	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.754000	0.62191	2.274000	0.75844	0.555000	0.69702	GAG		0.567	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3				40	125	0	0	0	1	0	40	125		
MYH6	4624	broad.mit.edu	37	14	23865621	23865621	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:23865621G>A	ENST00000356287.3	-	19	2330	c.2301C>T	c.(2299-2301)ttC>ttT	p.F767F	MYH6_ENST00000405093.3_Silent_p.F767F			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	767	Actin-binding.|Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCCTGCCTTGAAGAACACCT	0.637																																						uc001wjv.2		NaN																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(2299-2301)TTC>TTT		myosin heavy chain 6							33.0	30.0	31.0					14																	23865621		2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23865621G>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2301C>T	14.37:g.23865621G>A							p.F767F	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	20	2368	-	all_cancers(95;2.54e-05)		767			Actin-binding.|Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.2301C>T	CCDS9600.1																																																																																				0.637	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3				22	50	0	0	0	1	0	22	50		
MYH7	4625	broad.mit.edu	37	14	23899054	23899054	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:23899054G>A	ENST00000355349.3	-	12	1230	c.1068C>T	c.(1066-1068)atC>atT	p.I356I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	356	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CAAAGTGCATGATGGCGCCTG	0.562																																						uc001wjx.2		NaN																	0				ovary(3)|skin(1)	4						c.(1066-1068)ATC>ATT		myosin, heavy chain 7, cardiac muscle, beta							101.0	93.0	96.0					14																	23899054		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23899054G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1068C>T	14.37:g.23899054G>A							p.I356I	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	12	1174	-	all_cancers(95;2.54e-05)		356			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.1068C>T	CCDS9601.1																																																																																				0.562	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3		NM_000257		34	99	0	0	0	1	0	34	99		
DHRS4	10901	broad.mit.edu	37	14	24424331	24424331	+	Silent	SNP	G	G	A	rs142533242		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:24424331G>A	ENST00000313250.5	+	2	419	c.216G>A	c.(214-216)gcG>gcA	p.A72A	DHRS4_ENST00000397073.2_Silent_p.A54A|DHRS4_ENST00000558581.1_Silent_p.A72A|DHRS4_ENST00000559632.1_Silent_p.A72A|DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000558263.1_Silent_p.A72A|DHRS4_ENST00000397074.3_Silent_p.A72A|DHRS4_ENST00000543741.2_Silent_p.A72A|DHRS4_ENST00000382761.3_Silent_p.A54A|DHRS4_ENST00000397075.3_Silent_p.A72A|DHRS4_ENST00000308178.8_Silent_p.A54A|DHRS4_ENST00000421831.1_Silent_p.A54A	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	72					alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	TGGACCAGGCGGTGGCCACGC	0.692																																						uc001wla.2		NaN																	0				ovary(1)	1						c.(214-216)GCG>GCA		peroxisomal short-chain alcohol dehydrogenase	Vitamin A(DB00162)						41.0	47.0	45.0					14																	24424331		2202	4297	6499	SO:0001819	synonymous_variant	10901					mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	g.chr14:24424331G>A	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 2"""	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.216G>A	14.37:g.24424331G>A						C14orf167_uc001wkz.2_5'Flank|C14orf167_uc001wky.2_5'Flank|C14orf167_uc001wkx.2_5'Flank|C14orf167_uc010akx.1_5'Flank|DHRS4_uc010aky.2_Silent_p.A72A|DHRS4_uc001wlb.2_Silent_p.A72A|DHRS4_uc010akz.2_Silent_p.A72A|DHRS4_uc001wlc.3_Silent_p.A72A|DHRS4L2_uc001wld.3_Silent_p.A72A|DHRS4L2_uc001wle.3_Silent_p.A72A	p.A72A	NM_021004	NP_066284	Q9BTZ2	DHRS4_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	2	249	+			72					B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Silent	SNP	ENST00000313250.5	37	c.216G>A	CCDS9605.1																																																																																				0.692	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3				36	112	0	0	0	1	0	36	112		
ADCY4	196883	broad.mit.edu	37	14	24800506	24800506	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:24800506C>G	ENST00000310677.4	-	6	839	c.726G>C	c.(724-726)gaG>gaC	p.E242D	ADCY4_ENST00000418030.2_Missense_Mutation_p.E242D|ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000558563.1_5'Flank|ADCY4_ENST00000554068.2_Missense_Mutation_p.E242D	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	242					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GTGCCATGATCTCTGCCTTCA	0.552																																						uc001wov.2		NaN																	0				ovary(1)|lung(1)|pancreas(1)	3						c.(724-726)GAG>GAC		adenylate cyclase 4							104.0	86.0	92.0					14																	24800506		2203	4300	6503	SO:0001583	missense	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24800506C>G	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.726G>C	14.37:g.24800506C>G	ENSP00000312126:p.Glu242Asp					ADCY4_uc001wow.2_Missense_Mutation_p.E242D|ADCY4_uc010toh.1_5'UTR|ADCY4_uc001wox.2_Missense_Mutation_p.E242D|ADCY4_uc001woy.2_Missense_Mutation_p.E242D	p.E242D	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	5	732	-			242			Cytoplasmic (Potential).		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.726G>C	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067285	0.55539	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	T;T;T	0.73789	-0.78;-0.78;-0.78	4.89	3.96	0.45880	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.50627	D	0.000110	T	0.58177	0.2104	N	0.04355	-0.22	0.80722	D	1	D	0.55800	0.973	P	0.60173	0.87	T	0.62826	-0.6772	10	0.02654	T	1	.	6.1056	0.20071	0.187:0.7181:0.0:0.0948	.	242	Q8NFM4	ADCY4_HUMAN	D	242	ENSP00000312126:E242D;ENSP00000452250:E242D;ENSP00000393177:E242D	ENSP00000312126:E242D	E	-	3	2	ADCY4	23870346	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.759000	0.26461	2.543000	0.85770	0.561000	0.74099	GAG		0.552	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4				30	92	0	0	0	1	0	30	92		
ADCY4	196883	broad.mit.edu	37	14	24801006	24801006	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:24801006C>T	ENST00000310677.4	-	5	770	c.657G>A	c.(655-657)gaG>gaA	p.E219E	ADCY4_ENST00000418030.2_Silent_p.E219E|ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000558563.1_5'Flank|ADCY4_ENST00000554068.2_Silent_p.E219E	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	219					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GGTGCTTCTTCTCGGTGTCCA	0.637																																						uc001wov.2		NaN																	0				ovary(1)|lung(1)|pancreas(1)	3						c.(655-657)GAG>GAA		adenylate cyclase 4							23.0	26.0	25.0					14																	24801006		2203	4300	6503	SO:0001819	synonymous_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24801006C>T	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.657G>A	14.37:g.24801006C>T						ADCY4_uc001wow.2_Silent_p.E219E|ADCY4_uc010toh.1_5'UTR|ADCY4_uc001wox.2_Silent_p.E219E|ADCY4_uc001woy.2_Silent_p.E219E	p.E219E	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	4	663	-			219			Cytoplasmic (Potential).		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.657G>A	CCDS9627.1																																																																																				0.637	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4				11	27	0	0	0	1	0	11	27		
NYNRIN	57523	broad.mit.edu	37	14	24880396	24880396	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:24880396G>A	ENST00000382554.3	+	5	2847	c.2529G>A	c.(2527-2529)aaG>aaA	p.K843K		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	843					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGCTGAAGAAGAACCGGAGGG	0.592											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001wpf.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2527-2529)AAG>AAA		hypothetical protein LOC57523							108.0	121.0	116.0					14																	24880396		2079	4206	6285	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24880396G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.2529G>A	14.37:g.24880396G>A			OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774		p.K843K	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			5	2847	+			843					Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.2529G>A	CCDS45090.1																																																																																				0.592	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1				40	144	0	0	0	1	0	40	144		
HECTD1	25831	broad.mit.edu	37	14	31572252	31572252	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:31572252G>C	ENST00000399332.1	-	41	7908	c.7420C>G	c.(7420-7422)Cca>Gca	p.P2474A	HECTD1_ENST00000553700.1_Missense_Mutation_p.P2474A	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2474	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)			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)		TTCTCCATTGGAAAAACTTTA	0.358																																						uc001wrc.1		NaN																	0				ovary(3)|large_intestine(1)|lung(1)	5						c.(7420-7422)CCA>GCA		HECT domain containing 1							90.0	86.0	88.0					14																	31572252		1863	4096	5959	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31572252G>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.7420C>G	14.37:g.31572252G>C	ENSP00000382269:p.Pro2474Ala					HECTD1_uc001wra.1_Missense_Mutation_p.P600A|HECTD1_uc001wrb.1_Missense_Mutation_p.P600A	p.P2474A	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)	41	7909	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		2474			HECT.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.7420C>G	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.15|18.15	3.560938|3.560938	0.65538|0.65538	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000554882|ENST00000553700;ENST00000261312;ENST00000399332;ENST00000399323	T|T;T	0.55760|0.54479	0.5|0.57;0.57	5.94|5.94	5.04|5.04	0.67666|0.67666	.|HECT (4);	.|0.000000	.|0.64402	.|U	.|0.000001	T|T	0.55273|0.55273	0.1910|0.1910	M|M	0.62016|0.62016	1.91|1.91	0.80722|0.80722	D|D	1|1	.|B	.|0.19583	.|0.037	.|B	.|0.28638	.|0.092	T|T	0.55198|0.55198	-0.8178|-0.8178	6|10	.|0.56958	.|D	.|0.05	-10.267|-10.267	16.4294|16.4294	0.83835|0.83835	0.0:0.0:0.8676:0.1324|0.0:0.0:0.8676:0.1324	.|.	.|2474	.|Q9ULT8	.|HECD1_HUMAN	L|A	839|2474;2476;2474;35	ENSP00000451260:F839L|ENSP00000450697:P2474A;ENSP00000382269:P2474A	.|ENSP00000261312:P2476A	F|P	-|-	3|1	2|0	HECTD1|HECTD1	30642003|30642003	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.793000|9.793000	0.99091|0.99091	1.479000|1.479000	0.48272|0.48272	0.650000|0.650000	0.86243|0.86243	TTC|CCA		0.358	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1				15	47	0	0	0	1	0	15	47		
HECTD1	25831	broad.mit.edu	37	14	31602831	31602831	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:31602831C>A	ENST00000399332.1	-	23	4117	c.3629G>T	c.(3628-3630)tGg>tTg	p.W1210L	HECTD1_ENST00000553700.1_Missense_Mutation_p.W1210L	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1210					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)			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)		CACATGTCTCCACCCTTGTTT	0.363																																						uc001wrc.1		NaN																	0				ovary(3)|large_intestine(1)|lung(1)	5						c.(3628-3630)TGG>TTG		HECT domain containing 1							171.0	154.0	159.0					14																	31602831		1870	4105	5975	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31602831C>A	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.3629G>T	14.37:g.31602831C>A	ENSP00000382269:p.Trp1210Leu					HECTD1_uc001wrd.1_Missense_Mutation_p.W725L	p.W1210L	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)	23	4118	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1210					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.3629G>T	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755478	0.89843	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.39056	1.1;1.1;1.1	5.45	5.45	0.79879	Galactose-binding domain-like (1);Sad1/UNC-like, C-terminal (1);	0.000000	0.64402	U	0.000001	T	0.63920	0.2552	M	0.61703	1.905	0.80722	D	1	P;D	0.59357	0.897;0.985	P;D	0.71414	0.671;0.973	T	0.65561	-0.6138	10	0.72032	D	0.01	-4.2145	19.2727	0.94016	0.0:1.0:0.0:0.0	.	1210;1210	D3DS86;Q9ULT8	.;HECD1_HUMAN	L	1210;1212;1210;684	ENSP00000450697:W1210L;ENSP00000382269:W1210L;ENSP00000451860:W684L	ENSP00000261312:W1212L	W	-	2	0	HECTD1	30672582	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.800000	0.85949	2.553000	0.86117	0.650000	0.86243	TGG		0.363	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1				8	38	1	0	0.00307968	1	0.00310906	8	38		
HECTD1	25831	broad.mit.edu	37	14	31602844	31602844	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:31602844C>G	ENST00000399332.1	-	23	4104	c.3616G>C	c.(3616-3618)Gag>Cag	p.E1206Q	HECTD1_ENST00000553700.1_Missense_Mutation_p.E1206Q	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1206					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)			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)		CCTTGTTTCTCATCCTTTGGT	0.363																																						uc001wrc.1		NaN																	0				ovary(3)|large_intestine(1)|lung(1)	5						c.(3616-3618)GAG>CAG		HECT domain containing 1							167.0	145.0	152.0					14																	31602844		1860	4091	5951	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31602844C>G	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.3616G>C	14.37:g.31602844C>G	ENSP00000382269:p.Glu1206Gln					HECTD1_uc001wrd.1_Missense_Mutation_p.E721Q	p.E1206Q	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)	23	4105	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1206					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.3616G>C	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.380663|4.380663	0.82792|0.82792	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957|ENST00000557369	T;T;T|.	0.29397|.	1.57;1.57;1.57|.	5.45|5.45	5.45|5.45	0.79879|0.79879	Galactose-binding domain-like (1);Sad1/UNC-like, C-terminal (1);|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|.	0.70684|.	0.3252|.	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;D|.	0.63880|.	0.993;0.991|.	D;D|.	0.74023|.	0.932;0.982|.	T|.	0.66893|.	-0.5808|.	10|.	0.56958|.	D|.	0.05|.	-10.743|-10.743	19.2727|19.2727	0.94016|0.94016	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1206;1206|.	D3DS86;Q9ULT8|.	.;HECD1_HUMAN|.	Q|S	1206;1208;1206;680|36	ENSP00000450697:E1206Q;ENSP00000382269:E1206Q;ENSP00000451860:E680Q|.	ENSP00000261312:E1208Q|.	E|X	-|-	1|2	0|2	HECTD1|HECTD1	30672595|30672595	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.800000|7.800000	0.85949|0.85949	2.553000|2.553000	0.86117|0.86117	0.650000|0.650000	0.86243|0.86243	GAG|TGA		0.363	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1				7	24	0	0	0	1	0	7	24		
HEATR5A	25938	broad.mit.edu	37	14	31849763	31849763	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:31849763C>A	ENST00000389961.3	-	10	1599	c.1600G>T	c.(1600-1602)Gat>Tat	p.D534Y	HEATR5A_ENST00000439348.1_Missense_Mutation_p.D534Y|HEATR5A_ENST00000439727.1_Missense_Mutation_p.D247Y|HEATR5A_ENST00000404677.3_Missense_Mutation_p.D540Y|HEATR5A_ENST00000543095.2_Missense_Mutation_p.D540Y			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	534										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CACAGCAAATCCTCTGCTAAT	0.358																																						uc001wrf.3		NaN																	0				ovary(1)	1						c.(739-741)GAT>TAT		HEAT repeat containing 5A							59.0	56.0	57.0					14																	31849763		1934	4135	6069	SO:0001583	missense	25938						binding	g.chr14:31849763C>A	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1600G>T	14.37:g.31849763C>A	ENSP00000374611:p.Asp534Tyr					HEATR5A_uc010ami.2_Missense_Mutation_p.D145Y|HEATR5A_uc001wrg.1_Missense_Mutation_p.D129Y|HEATR5A_uc010tpk.1_Missense_Mutation_p.D540Y	p.D247Y	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	5	816	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		534					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.739G>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	27.4|27.4|27.4	4.829745|4.829745|4.829745	0.91036|0.91036|0.91036	.|.|.	.|.|.	ENSG00000129493|ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000550366|ENST00000538864	T;T;T;T;T|.|.	0.08634|.|.	3.07;3.07;3.07;3.07;3.07|.|.	5.67|5.67|5.67	5.67|5.67|5.67	0.87782|0.87782|0.87782	Armadillo-type fold (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	D|D|D	0.83358|0.83358|0.83358	0.5237|0.5237|0.5237	M|M|M	0.85542|0.85542|0.85542	2.76|2.76|2.76	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0|.|.	D;D;D|.|.	0.97110|.|.	1.0;0.993;0.997|.|.	D|D|D	0.84440|0.84440|0.84440	0.0582|0.0582|0.0582	10|5|5	0.87932|.|.	D|.|.	0|.|.	.|.|.	19.7743|19.7743|19.7743	0.96385|0.96385|0.96385	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	540;534;534|.|.	B5MC49;Q86XA9-2;Q86XA9|.|.	.;.;HTR5A_HUMAN|.|.	Y|V|S	534;534;247;540;540|182|167	ENSP00000374611:D534Y;ENSP00000405407:D534Y;ENSP00000408681:D247Y;ENSP00000437968:D540Y;ENSP00000384646:D540Y|.|.	ENSP00000374611:D534Y|.|.	D|G|R	-|-|-	1|2|3	0|0|2	HEATR5A|HEATR5A|HEATR5A	30919514|30919514|30919514	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	7.711000|7.711000|7.711000	0.84669|0.84669|0.84669	2.663000|2.663000|2.663000	0.90544|0.90544|0.90544	0.557000|0.557000|0.557000	0.71058|0.71058|0.71058	GAT|GGA|AGG		0.358	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_015473		6	17	1	0	2.0095e-06	1	2.06813e-06	6	17		
MIPOL1	145282	broad.mit.edu	37	14	37777576	37777576	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:37777576G>A	ENST00000327441.7	+	10	1146	c.680G>A	c.(679-681)aGa>aAa	p.R227K	MIPOL1_ENST00000545536.1_Missense_Mutation_p.R196K|MIPOL1_ENST00000396294.2_Missense_Mutation_p.R227K|MIPOL1_ENST00000536774.1_Missense_Mutation_p.R46K|MIPOL1_ENST00000556451.1_Missense_Mutation_p.R196K|MIPOL1_ENST00000539062.2_Missense_Mutation_p.R196K|MIPOL1_ENST00000537471.1_Missense_Mutation_p.R227K	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	227						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		TTACTGAACAGAATAAACAAT	0.308																																						uc001wuc.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(679-681)AGA>AAA		mirror-image polydactyly 1							107.0	113.0	111.0					14																	37777576		2203	4299	6502	SO:0001583	missense	145282							g.chr14:37777576G>A	AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.680G>A	14.37:g.37777576G>A	ENSP00000333539:p.Arg227Lys					MIPOL1_uc010amr.2_Intron|MIPOL1_uc001wub.3_Missense_Mutation_p.R196K|MIPOL1_uc001wud.2_Missense_Mutation_p.R227K|MIPOL1_uc010ams.2_Missense_Mutation_p.R227K|MIPOL1_uc001wue.2_Missense_Mutation_p.R196K|MIPOL1_uc010amt.2_Missense_Mutation_p.R46K	p.R227K	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)	10	1183	+	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		227					D3DSA4|Q7Z3J0|Q8IV14	Missense_Mutation	SNP	ENST00000327441.7	37	c.680G>A	CCDS9664.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345406	0.61073	.	.	ENSG00000151338	ENST00000327441;ENST00000536774;ENST00000539062;ENST00000556451;ENST00000396294;ENST00000537471;ENST00000545536	T;T;T;T;T;T	0.53206	0.65;0.66;0.63;0.65;0.65;0.63	5.65	5.65	0.86999	.	0.109676	0.64402	D	0.000011	T	0.63426	0.2510	M	0.74881	2.28	0.35663	D	0.812686	D;D	0.67145	0.996;0.996	P;P	0.59643	0.849;0.861	T	0.72211	-0.4359	10	0.46703	T	0.11	-11.352	12.9809	0.58564	0.074:0.0:0.926:0.0	.	227;196	Q8TD10;Q49AL5	MIPO1_HUMAN;.	K	227;46;196;196;227;227;196	ENSP00000333539:R227K;ENSP00000438319:R196K;ENSP00000450479:R196K;ENSP00000379589:R227K;ENSP00000444254:R227K;ENSP00000442529:R196K	ENSP00000333539:R227K	R	+	2	0	MIPOL1	36847327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.471000	0.66762	2.662000	0.90505	0.591000	0.81541	AGA		0.308	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1		NM_138731		20	50	0	0	0	1	0	20	50		
SSTR1	6751	broad.mit.edu	37	14	38679239	38679239	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:38679239C>T	ENST00000267377.2	+	3	1262	c.645C>T	c.(643-645)ccC>ccT	p.P215P		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	215					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	TGCCAGAGCCCGCTCAACGCT	0.607																																						uc001wul.1		NaN																	0				central_nervous_system(3)|ovary(1)|lung(1)	5						c.(643-645)CCC>CCT		somatostatin receptor 1	Octreotide(DB00104)						71.0	68.0	69.0					14																	38679239		2203	4300	6503	SO:0001819	synonymous_variant	6751				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38679239C>T		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.645C>T	14.37:g.38679239C>T						SSTR1_uc010amu.1_Intron	p.P215P	NM_001049	NP_001040	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	1262	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		215			Extracellular (Potential).			Silent	SNP	ENST00000267377.2	37	c.645C>T	CCDS9666.1																																																																																				0.607	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2				26	81	0	0	0	1	0	26	81		
LRR1	122769	broad.mit.edu	37	14	50074583	50074583	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:50074583G>A	ENST00000298288.6	+	3	1072	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	LRR1_ENST00000318317.4_Intron	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	250					protein ubiquitination (GO:0016567)					kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCAGCTCCAGGAACTTAAGAA	0.403																																						uc001wwn.2		NaN																	0					0						c.(748-750)GAA>AAA		peptidylprolyl isomerase (cyclophilin)-like 5							52.0	54.0	53.0					14																	50074583		2203	4300	6503	SO:0001583	missense	122769							g.chr14:50074583G>A	BC030142	CCDS9686.1, CCDS9687.1	14q21.3	2011-02-02	2011-02-02	2011-02-02	ENSG00000165501	ENSG00000165501			19742	protein-coding gene	gene with protein product	"""LRR-repeat protein 1"""	609193	"""peptidylprolyl isomerase (cyclophilin)-like 5"""	PPIL5		11804328, 21074724	Standard	NR_037792		Approved	MGC20689, LRR-1	uc001wwn.3	Q96L50	OTTHUMG00000140273	ENST00000298288.6:c.748G>A	14.37:g.50074583G>A	ENSP00000298288:p.Glu250Lys					SDCCAG1_uc010anj.1_Intron|PPIL5_uc001wwo.2_Intron|PPIL5_uc010ank.2_Missense_Mutation_p.E191K|PPIL5_uc001wwp.2_RNA	p.E250K	NM_152329	NP_689542	Q96L50	LLR1_HUMAN			3	1072	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		250			LRR 5.		A5D6X3|B4DDE0|Q52M24|Q86SZ1|Q8N6H9	Missense_Mutation	SNP	ENST00000298288.6	37	c.748G>A	CCDS9686.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.051063	0.55218	.	.	ENSG00000165501	ENST00000298288;ENST00000361579	T	0.17213	2.29	5.98	4.11	0.48088	.	0.044842	0.85682	D	0.000000	T	0.11452	0.0279	N	0.25890	0.77	0.80722	D	1	P;P	0.39060	0.518;0.657	B;B	0.35182	0.197;0.197	T	0.02966	-1.1088	10	0.07644	T	0.81	-12.1025	16.6639	0.85247	0.0:0.2452:0.7547:0.0	.	272;250	A8MSW2;Q96L50	.;LLR1_HUMAN	K	250;272	ENSP00000298288:E250K	ENSP00000298288:E250K	E	+	1	0	LRR1	49144333	1.000000	0.71417	0.984000	0.44739	0.751000	0.42716	6.450000	0.73477	0.839000	0.34971	-0.181000	0.13052	GAA		0.403	LRR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410790.1		NM_203467		11	47	0	0	0	1	0	11	47		
GCH1	2643	broad.mit.edu	37	14	55310749	55310749	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:55310749G>A	ENST00000491895.2	-	6	927	c.739C>T	c.(739-741)Ctc>Ttc	p.L247F	GCH1_ENST00000543643.2_Intron|GCH1_ENST00000254299.4_5'UTR|GCH1_ENST00000536224.2_Intron|GCH1_ENST00000395514.1_Missense_Mutation_p.L247F	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1	247					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|dopamine biosynthetic process (GO:0042416)|GTP catabolic process (GO:0006184)|metabolic process (GO:0008152)|negative regulation of blood pressure (GO:0045776)|neuromuscular process controlling posture (GO:0050884)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric-oxide synthase activity (GO:0051000)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|pteridine-containing compound biosynthetic process (GO:0042559)|regulation of blood pressure (GO:0008217)|regulation of lung blood pressure (GO:0014916)|regulation of nitric-oxide synthase activity (GO:0050999)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to pain (GO:0048265)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|tetrahydrofolate biosynthetic process (GO:0046654)|vasodilation (GO:0042311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|coenzyme binding (GO:0050662)|GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(2)|lung(7)|skin(2)	11						CTCCTAATGAGAGTCAGGAAC	0.483																																					Pancreas(198;1245 2204 4807 21567 38372)	uc001xbh.1		NaN																	0				skin(1)	1						c.(739-741)CTC>TTC		GTP cyclohydrolase 1 isoform 1							190.0	148.0	162.0					14																	55310749		2203	4300	6503	SO:0001583	missense	2643				dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process	cytoplasmic vesicle|cytosol|nuclear membrane|protein complex	GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding	g.chr14:55310749G>A	U19523	CCDS9720.1, CCDS41954.1, CCDS45110.1	14q22.1-q22.2	2014-04-01	2008-08-01		ENSG00000131979	ENSG00000131979	3.5.4.16		4193	protein-coding gene	gene with protein product	"""dopa-responsive dystonia"""	600225	"""dystonia 14"""	GCH, DYT5, DYT14		7874165, 8695054	Standard	XM_005267530		Approved	GTPCH1, DYT5a	uc001xbi.1	P30793	OTTHUMG00000029754	ENST00000491895.2:c.739C>T	14.37:g.55310749G>A	ENSP00000419045:p.Leu247Phe					GCH1_uc001xbi.1_Missense_Mutation_p.L247F|GCH1_uc001xbj.1_Intron|GCH1_uc001xbk.1_Intron|GCH1_uc010aol.1_Intron	p.L247F	NM_001024024	NP_001019195	P30793	GCH1_HUMAN			6	900	-			247					Q6FHY7|Q9Y4I8	Missense_Mutation	SNP	ENST00000491895.2	37	c.739C>T	CCDS9720.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868173	0.91587	.	.	ENSG00000131979	ENST00000395514;ENST00000491895	D;D	0.99807	-6.85;-6.85	5.93	5.05	0.67936	.	0.056353	0.64402	N	0.000001	D	0.99658	0.9873	M	0.86097	2.795	0.80722	D	1	P	0.47106	0.89	P	0.55667	0.781	D	0.97225	0.9880	10	0.72032	D	0.01	-9.639	14.1772	0.65549	0.071:0.0:0.929:0.0	.	247	P30793	GCH1_HUMAN	F	247	ENSP00000378890:L247F;ENSP00000419045:L247F	ENSP00000378890:L247F	L	-	1	0	GCH1	54380499	1.000000	0.71417	0.663000	0.29738	0.932000	0.56968	7.998000	0.88491	1.536000	0.49237	0.655000	0.94253	CTC		0.483	GCH1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276895.3				34	87	0	0	0	1	0	34	87		
ATG14	22863	broad.mit.edu	37	14	55852644	55852644	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:55852644G>A	ENST00000247178.5	-	5	615	c.580C>T	c.(580-582)Cga>Tga	p.R194*		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	194					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						TGGGATCGTCGAAGATTTGCC	0.408																																						uc001xbx.1		NaN																	0					0						c.(580-582)CGA>TGA		Barkor							135.0	119.0	124.0					14																	55852644		2203	4300	6503	SO:0001587	stop_gained	22863				autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	g.chr14:55852644G>A	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"""Barkor"", ""beclin 1-associated autophagy-related key regulator"""	613515	"""KIAA0831"", ""ATG14 autophagy related 14 homolog (S. cerevisiae)"""	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.580C>T	14.37:g.55852644G>A	ENSP00000247178:p.Arg194*					FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Nonsense_Mutation_p.R81*	p.R194*	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN			5	616	-			194					A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Nonsense_Mutation	SNP	ENST00000247178.5	37	c.580C>T	CCDS32087.1	.	.	.	.	.	.	.	.	.	.	g	17.19	3.325639	0.60743	.	.	ENSG00000126775	ENST00000247178	.	.	.	5.45	4.54	0.55810	.	0.061166	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3646	16.1224	0.81369	0.0:0.1338:0.8662:0.0	.	.	.	.	X	194	.	ENSP00000247178:R194X	R	-	1	2	ATG14	54922397	1.000000	0.71417	0.023000	0.16930	0.125000	0.20455	3.281000	0.51685	1.265000	0.44215	0.650000	0.86243	CGA		0.408	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1		NM_014924		8	30	0	0	0	1	0	8	30		
RTN1	6252	broad.mit.edu	37	14	60193729	60193729	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:60193729G>A	ENST00000267484.5	-	3	2008	c.1673C>T	c.(1672-1674)tCg>tTg	p.S558L		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	558					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GTTGGAACTCGAGTCTTCTTC	0.622																																						uc001xen.1		NaN																	0				ovary(2)|central_nervous_system(2)	4						c.(1672-1674)TCG>TTG		reticulon 1 isoform A							25.0	28.0	27.0					14																	60193729		2203	4300	6503	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60193729G>A	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1673C>T	14.37:g.60193729G>A	ENSP00000267484:p.Ser558Leu					RTN1_uc001xem.1_Missense_Mutation_p.S138L	p.S558L	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	3	1882	-			558					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.1673C>T	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.602032	0.28534	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000433623	T	0.24350	1.86	4.78	0.741	0.18336	.	0.715854	0.12913	N	0.428751	T	0.11153	0.0272	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.30794	-0.9966	10	0.28530	T	0.3	.	6.2828	0.21017	0.1429:0.0:0.5966:0.2605	.	558	Q16799	RTN1_HUMAN	L	138;558;484	ENSP00000267484:S558L	ENSP00000267484:S558L	S	-	2	0	RTN1	59263482	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.172000	0.16704	-0.159000	0.11021	0.563000	0.77884	TCG		0.622	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2				9	38	0	0	0	1	0	9	38		
PPM1A	5494	broad.mit.edu	37	14	60750112	60750112	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:60750112G>A	ENST00000395076.4	+	2	1121	c.691G>A	c.(691-693)Gat>Aat	p.D231N	PPM1A_ENST00000325642.3_Missense_Mutation_p.D304N|PPM1A_ENST00000529574.1_Missense_Mutation_p.D231N|PPM1A_ENST00000325658.3_Missense_Mutation_p.D231N	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	231					cell cycle arrest (GO:0007050)|dephosphorylation (GO:0016311)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|N-terminal protein myristoylation (GO:0006499)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|protein dephosphorylation (GO:0006470)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|voltage-gated calcium channel complex (GO:0005891)	calmodulin-dependent protein phosphatase activity (GO:0033192)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)|R-SMAD binding (GO:0070412)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		TGAAGAAGATGATCAGTTCAT	0.413																																						uc010apn.2		NaN																	0				skin(1)	1						c.(691-693)GAT>AAT		protein phosphatase 1A isoform 1							175.0	158.0	164.0					14																	60750112		2203	4300	6503	SO:0001583	missense	5494				cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr14:60750112G>A	S87759	CCDS9744.1, CCDS9745.1, CCDS45120.1	14q23.1	2013-01-24	2010-03-05		ENSG00000100614	ENSG00000100614	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9275	protein-coding gene	gene with protein product	"""phosphatase 2C alpha"", ""protein phosphatase 2C, alpha isoform"""	606108	"""protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform"""			1311954	Standard	NM_177952		Approved	MGC9201, PP2Calpha, PP2CA	uc001xew.4	P35813	OTTHUMG00000140333	ENST00000395076.4:c.691G>A	14.37:g.60750112G>A	ENSP00000378514:p.Asp231Asn					PPM1A_uc001xew.3_Missense_Mutation_p.D304N|PPM1A_uc001xex.3_Missense_Mutation_p.D231N|PPM1A_uc001xey.3_Missense_Mutation_p.D231N	p.D231N	NM_021003	NP_066283	P35813	PPM1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.046)	3	1093	+			231					B5BU11|J3KNM0|O75551	Missense_Mutation	SNP	ENST00000395076.4	37	c.691G>A	CCDS9744.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.817737	0.90790	.	.	ENSG00000100614	ENST00000325642;ENST00000529574;ENST00000395076;ENST00000325658	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	5.69	5.69	0.88448	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.61286	0.2335	M	0.90595	3.13	0.80722	D	1	D;D;D	0.89917	0.995;0.998;1.0	D;D;D	0.74674	0.913;0.984;0.976	T	0.68697	-0.5340	10	0.87932	D	0	-7.268	19.8148	0.96562	0.0:0.0:1.0:0.0	.	231;231;231	P35813;P35813-2;B2R8E4	PPM1A_HUMAN;.;.	N	304;231;231;231	ENSP00000327255:D304N;ENSP00000432966:D231N;ENSP00000378514:D231N;ENSP00000314850:D231N	ENSP00000327255:D304N	D	+	1	0	PPM1A	59819865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.685000	0.91497	0.585000	0.79938	GAT		0.413	PPM1A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276949.2		NM_021003		43	96	0	0	0	1	0	43	96		
SYT16	83851	broad.mit.edu	37	14	62463153	62463153	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:62463153C>G	ENST00000430451.2	+	1	613	c.416C>G	c.(415-417)tCt>tGt	p.S139C	SYT16_ENST00000446982.2_Missense_Mutation_p.S139C	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	139					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GTGCTTTCTTCTATTGCGGAG	0.478																																						uc001xfu.1		NaN																	0				central_nervous_system(1)	1						c.(415-417)TCT>TGT		synaptotagmin XIV-like							125.0	117.0	120.0					14																	62463153		1895	4124	6019	SO:0001583	missense	83851							g.chr14:62463153C>G	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.416C>G	14.37:g.62463153C>G	ENSP00000394700:p.Ser139Cys					SYT16_uc010tsd.1_Missense_Mutation_p.S139C	p.S139C	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	1	613	+			139					B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	c.416C>G	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576225	0.65878	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	T;T	0.41400	1.0;3.36	5.55	5.55	0.83447	.	0.141869	0.33253	N	0.005108	T	0.59238	0.2179	L	0.51422	1.61	0.30426	N	0.777622	D;D	0.71674	0.998;0.993	D;P	0.63113	0.911;0.72	T	0.58674	-0.7595	10	0.72032	D	0.01	-9.6044	19.6941	0.96016	0.0:1.0:0.0:0.0	.	139;139	B4DZH2;Q17RD7	.;SYT16_HUMAN	C	139	ENSP00000388023:S139C;ENSP00000394700:S139C	ENSP00000394700:S139C	S	+	2	0	SYT16	61532906	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.792000	0.62467	2.885000	0.99019	0.655000	0.94253	TCT		0.478	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1		NM_031914		39	119	0	0	0	1	0	39	119		
SYNE2	23224	broad.mit.edu	37	14	64529564	64529564	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:64529564C>T	ENST00000344113.4	+	50	10375	c.10163C>T	c.(10162-10164)tCg>tTg	p.S3388L	SYNE2_ENST00000554584.1_Missense_Mutation_p.S3421L|SYNE2_ENST00000358025.3_Missense_Mutation_p.S3388L|SYNE2_ENST00000555002.1_Missense_Mutation_p.S22L|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3388					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)			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)		TCCATGTCCTCGTTGCCACTG	0.398																																						uc001xgm.2		NaN																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(10162-10164)TCG>TTG		spectrin repeat containing, nuclear envelope 2							77.0	75.0	76.0					14																	64529564		1915	4121	6036	SO:0001583	missense	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.chr14:64529564C>T	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.10163C>T	14.37:g.64529564C>T	ENSP00000341781:p.Ser3388Leu					SYNE2_uc001xgl.2_Missense_Mutation_p.S3388L|SYNE2_uc010apw.1_Missense_Mutation_p.S94L	p.S3388L	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)	50	10393	+			3388			Cytoplasmic (Potential).|Potential.		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.10163C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	2.869	-0.234407	0.05983	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002	T;T;T;T	0.49720	1.21;0.77;1.21;4.06	5.78	1.59	0.23543	.	0.966204	0.08533	N	0.931756	T	0.23846	0.0577	N	0.08118	0	0.09310	N	0.999997	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.24941	-1.0146	10	0.18710	T	0.47	.	4.8967	0.13753	0.4377:0.2794:0.0:0.283	.	3388;3388	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	L	3388;3388;3421;3421;22	ENSP00000350719:S3388L;ENSP00000341781:S3388L;ENSP00000452570:S3421L;ENSP00000450831:S22L	ENSP00000261678:S3421L	S	+	2	0	SYNE2	63599317	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	0.664000	0.25068	0.063000	0.16370	-0.136000	0.14681	TCG		0.398	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914		13	33	0	0	0	1	0	13	33		
SYNE2	23224	broad.mit.edu	37	14	64542728	64542728	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:64542728C>G	ENST00000344113.4	+	54	11144	c.10932C>G	c.(10930-10932)atC>atG	p.I3644M	SYNE2_ENST00000554584.1_Missense_Mutation_p.I3677M|SYNE2_ENST00000358025.3_Missense_Mutation_p.I3644M|SYNE2_ENST00000555002.1_Missense_Mutation_p.I278M|SYNE2_ENST00000394768.2_Missense_Mutation_p.I6M|SYNE2_ENST00000357395.3_Missense_Mutation_p.I6M	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3644					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)			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)		AACTGCGAATCAAGTATTCCG	0.368																																						uc001xgm.2		NaN																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(10930-10932)ATC>ATG		spectrin repeat containing, nuclear envelope 2							84.0	83.0	83.0					14																	64542728		2203	4300	6503	SO:0001583	missense	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.chr14:64542728C>G	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.10932C>G	14.37:g.64542728C>G	ENSP00000341781:p.Ile3644Met					SYNE2_uc001xgl.2_Missense_Mutation_p.I3644M|SYNE2_uc010apy.2_Missense_Mutation_p.I6M|SYNE2_uc010apw.1_Missense_Mutation_p.I350M|SYNE2_uc010apx.1_Missense_Mutation_p.I36M	p.I3644M	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)	54	11162	+			3644			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.10932C>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.289160	0.23478	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.56444	0.85;4.13;0.85;0.46;4.19;4.13	5.76	3.93	0.45458	.	0.086771	0.49916	N	0.000127	T	0.36552	0.0971	N	0.20986	0.625	0.37071	D	0.89851	B;P;P;P	0.42785	0.421;0.686;0.686;0.79	B;B;B;B	0.37888	0.26;0.133;0.133;0.26	T	0.37361	-0.9709	10	0.39692	T	0.17	.	11.9238	0.52808	0.0:0.8112:0.1228:0.066	.	6;3678;3644;3644	Q8WXH0-7;D4YW74;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	M	3644;6;3644;3677;3677;278;6	ENSP00000350719:I3644M;ENSP00000349969:I6M;ENSP00000341781:I3644M;ENSP00000452570:I3677M;ENSP00000450831:I278M;ENSP00000378249:I6M	ENSP00000261678:I3677M	I	+	3	3	SYNE2	63612481	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.995000	0.49441	0.874000	0.35823	0.655000	0.94253	ATC		0.368	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914		8	19	0	0	0	1	0	8	19		
FNTB	2342	broad.mit.edu	37	14	65521359	65521359	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:65521359C>T	ENST00000246166.2	+	11	1368	c.1134C>T	c.(1132-1134)agC>agT	p.S378S	FNTB_ENST00000447296.2_Silent_p.S412S|FNTB_ENST00000542227.1_Silent_p.S332S|CHURC1-FNTB_ENST00000549987.1_Silent_p.S413S|MAX_ENST00000341653.2_Intron	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	378					negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ACTTCGGCAGCGGAGCCATGT	0.612																																						uc001xia.2		NaN																	0				ovary(1)	1						c.(1132-1134)AGC>AGT		farnesyltransferase, CAAX box, beta							87.0	66.0	73.0					14																	65521359		2203	4300	6503	SO:0001819	synonymous_variant	2342				protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity	g.chr14:65521359C>T		CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.1134C>T	14.37:g.65521359C>T						FNTB_uc010tsl.1_Silent_p.S412S|FNTB_uc010tsm.1_Silent_p.S332S|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_Silent_p.S134S|FNTB_uc010tso.1_Silent_p.S293S	p.S378S	NM_002028	NP_002019	P49356	FNTB_HUMAN		all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)	11	1299	+			378					B2RDX6|B4E1A0	Silent	SNP	ENST00000246166.2	37	c.1134C>T	CCDS9769.1																																																																																				0.612	FNTB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000286392.1		NM_002028		8	28	0	0	0	1	0	8	28		
RDH12	145226	broad.mit.edu	37	14	68196080	68196080	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:68196080G>C	ENST00000551171.1	+	8	1155	c.831G>C	c.(829-831)ctG>ctC	p.L277L	RDH12_ENST00000539142.1_Silent_p.L277L|RDH12_ENST00000267502.3_Silent_p.L277L	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	277					photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	intracellular (GO:0005622)|photoreceptor inner segment membrane (GO:0060342)	retinol dehydrogenase activity (GO:0004745)			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	TGGAGCCCCTGAGTGGCAAGT	0.637																																						uc001xjz.3		NaN																	0				ovary(1)	1						c.(829-831)CTG>CTC		retinol dehydrogenase 12	Vitamin A(DB00162)						40.0	43.0	42.0					14																	68196080		2203	4300	6503	SO:0001819	synonymous_variant	145226				photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity	g.chr14:68196080G>C	AK054835	CCDS9787.1	14q24.1	2013-02-14	2006-05-09		ENSG00000139988	ENSG00000139988	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19977	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 2"""	608830	"""retinol dehydrogenase 12 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_152443		Approved	FLJ30273, SDR7C2, LCA13, RP53	uc001xjz.4	Q96NR8		ENST00000551171.1:c.831G>C	14.37:g.68196080G>C							p.L277L	NM_152443	NP_689656	Q96NR8	RDH12_HUMAN		all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	8	1155	+			277					B2RDA2|Q8TAW6	Silent	SNP	ENST00000551171.1	37	c.831G>C	CCDS9787.1																																																																																				0.637	RDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406918.1				25	81	0	0	0	1	0	25	81		
ZFYVE26	23503	broad.mit.edu	37	14	68217796	68217796	+	Missense_Mutation	SNP	G	G	C	rs199735522	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:68217796G>C	ENST00000347230.4	-	41	7527	c.7389C>G	c.(7387-7389)atC>atG	p.I2463M	RN7SL213P_ENST00000463482.2_RNA|ZFYVE26_ENST00000557306.1_Missense_Mutation_p.I309M	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2463					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GTATTGCCTGGATCAGGCCCT	0.552																																						uc001xka.2		NaN																	0				ovary(9)|breast(2)	11						c.(7387-7389)ATC>ATG		zinc finger, FYVE domain containing 26							166.0	130.0	142.0					14																	68217796		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68217796G>C	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.7389C>G	14.37:g.68217796G>C	ENSP00000251119:p.Ile2463Met					ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_Missense_Mutation_p.I309M	p.I2463M	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	41	7528	-			2463					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.7389C>G	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648713	0.67358	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000557306	T;T	0.57273	0.81;0.41	5.83	5.83	0.93111	.	0.057090	0.64402	D	0.000003	T	0.65719	0.2718	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.64521	-0.6388	10	0.49607	T	0.09	-20.9588	12.352	0.55153	0.0843:0.0:0.9157:0.0	.	309;2463	Q96H43;Q68DK2	.;ZFY26_HUMAN	M	2463;2442;309	ENSP00000251119:I2463M;ENSP00000452142:I309M	ENSP00000251119:I2463M	I	-	3	3	ZFYVE26	67287549	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.019000	0.57181	2.770000	0.95276	0.655000	0.94253	ATC		0.552	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2		NM_015346		24	60	0	0	0	1	0	24	60		
ZFP36L1	677	broad.mit.edu	37	14	69262700	69262700	+	5'Flank	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:69262700G>A	ENST00000439696.2	-	0	0				ZFP36L1_ENST00000408913.2_Silent_p.L104L|ZFP36L1_ENST00000336440.3_5'Flank	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1						gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGGCCGAGGCGAGGCGTGCGT	0.761																																						uc001xkj.1		NaN																	0					0						c.(310-312)CTC>CTT		hypothetical protein LOC400223							9.0	12.0	11.0					14																	69262700		2055	3933	5988	SO:0001631	upstream_gene_variant	400223							g.chr14:69262700G>A	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352			14.37:g.69262700G>A	Exception_encountered					ZFP36L1_uc001xkh.1_5'Flank|ZFP36L1_uc001xki.1_5'Flank	p.L104L	NM_207442	NP_997325				all cancers(60;0.002)|BRCA - Breast invasive adenocarcinoma(234;0.00204)|OV - Ovarian serous cystadenocarcinoma(108;0.0399)	1	491	-								Q13851	Silent	SNP	ENST00000439696.2	37	c.312C>T	CCDS9791.1																																																																																				0.761	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1				4	24	0	0	0	1	0	4	24		
ADAM20	8748	broad.mit.edu	37	14	70989717	70989717	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:70989717G>A	ENST00000256389.3	-	2	2152	c.1908C>T	c.(1906-1908)ctC>ctT	p.L636L	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	586	EGF-like.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TGGTGTCATTGAGGTGAAACT	0.448																																						uc001xme.2		NaN																	0				skin(1)	1						c.(1906-1908)CTC>CTT		ADAM metallopeptidase domain 20 preproprotein							197.0	135.0	156.0					14																	70989717		2203	4300	6503	SO:0001819	synonymous_variant	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70989717G>A	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.1908C>T	14.37:g.70989717G>A							p.L636L	NM_003814	NP_003805	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	2153	-			586			Cys-rich.|Extracellular (Potential).		Q6GTZ1|Q9UKJ9	Silent	SNP	ENST00000256389.3	37	c.1908C>T	CCDS32111.1																																																																																				0.448	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2				35	87	0	0	0	1	0	35	87		
HEATR4	399671	broad.mit.edu	37	14	73987670	73987670	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:73987670C>T	ENST00000553558.1	-	4	1276	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	HEATR4_ENST00000560393.1_Missense_Mutation_p.E272K|RP3-414A15.2_ENST00000555972.2_RNA|HEATR4_ENST00000334988.2_Missense_Mutation_p.E319K|RP3-414A15.11_ENST00000553394.1_RNA	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	319										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CTCGTCTTTTCATGGATATCC	0.517																																						uc010tub.1		NaN																	0				ovary(1)	1						c.(955-957)GAA>AAA		HEAT repeat containing 4							147.0	135.0	139.0					14																	73987670		2203	4300	6503	SO:0001583	missense	399671							g.chr14:73987670C>T	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.955G>A	14.37:g.73987670C>T	ENSP00000450444:p.Glu319Lys					HEATR4_uc010tua.1_Missense_Mutation_p.E272K	p.E319K	NM_203309	NP_976054				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	4	1277	-								B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	c.955G>A	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	C	3.704	-0.060959	0.07317	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.39997	1.05	5.1	-1.77	0.07982	.	3.407290	0.00929	N	0.002690	T	0.26484	0.0647	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.15578	-1.0432	10	0.46703	T	0.11	2.1365	1.105	0.01692	0.1487:0.3515:0.1453:0.3545	.	319	Q86WZ0	HEAT4_HUMAN	K	319;272	ENSP00000450444:E319K	ENSP00000335447:E272K	E	-	1	0	HEATR4	73057423	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.753000	0.01818	-0.083000	0.12618	-0.140000	0.14226	GAA		0.517	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2		NM_203309		26	76	0	0	0	1	0	26	76		
ELMSAN1	91748	broad.mit.edu	37	14	74203808	74203808	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:74203808C>G	ENST00000286523.5	-	3	2424	c.1642G>C	c.(1642-1644)Gat>Cat	p.D548H	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.D548H|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	548					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										CCGTCCTCATCAAGACCTCCA	0.607																																						uc001xot.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(1642-1644)GAT>CAT		hypothetical protein LOC91748							96.0	82.0	87.0					14																	74203808		2203	4300	6503	SO:0001583	missense	91748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:74203808C>G	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1642G>C	14.37:g.74203808C>G	ENSP00000286523:p.Asp548His					C14orf43_uc001xou.2_Missense_Mutation_p.D548H|C14orf43_uc010tud.1_Missense_Mutation_p.D548H|C14orf43_uc010arw.2_RNA	p.D548H	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)	3	2425	-			548					Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	c.1642G>C	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736278	0.49045	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.15017	2.46;2.46;2.46;2.46	5.24	5.24	0.73138	.	0.446099	0.22172	N	0.063626	T	0.16981	0.0408	L	0.27053	0.805	0.41100	D	0.98566	B;P	0.37955	0.412;0.612	B;B	0.43360	0.259;0.417	T	0.04017	-1.0984	10	0.30854	T	0.27	-9.7973	14.1874	0.65614	0.0:1.0:0.0:0.0	.	548;548	A0PJD3;Q6PJG2	.;CN043_HUMAN	H	548	ENSP00000377634:D548H;ENSP00000286523:D548H;ENSP00000407767:D548H;ENSP00000402380:D548H	ENSP00000286523:D548H	D	-	1	0	C14orf43	73273561	0.961000	0.32948	0.117000	0.21633	0.422000	0.31414	3.122000	0.50446	2.732000	0.93576	0.655000	0.94253	GAT		0.607	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1		NM_194278		33	72	0	0	0	1	0	33	72		
ELMSAN1	91748	broad.mit.edu	37	14	74203900	74203900	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:74203900C>T	ENST00000286523.5	-	3	2332	c.1550G>A	c.(1549-1551)cGa>cAa	p.R517Q	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.R517Q|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	517					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										ACTGTCTTCTCGTGCTCGCTT	0.552																																						uc001xot.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(1549-1551)CGA>CAA		hypothetical protein LOC91748							110.0	96.0	101.0					14																	74203900		2203	4300	6503	SO:0001583	missense	91748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:74203900C>T	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1550G>A	14.37:g.74203900C>T	ENSP00000286523:p.Arg517Gln					C14orf43_uc001xou.2_Missense_Mutation_p.R517Q|C14orf43_uc010tud.1_Missense_Mutation_p.R517Q|C14orf43_uc010arw.2_RNA	p.R517Q	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)	3	2333	-			517					Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	c.1550G>A	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	C	34	5.343270	0.95783	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.21361	2.02;2.02;2.02;2.01	5.24	5.24	0.73138	.	0.000000	0.56097	D	0.000021	T	0.33673	0.0871	L	0.27053	0.805	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.02053	-1.1222	10	0.33940	T	0.23	-9.4359	17.1775	0.86845	0.0:1.0:0.0:0.0	.	517;517	A0PJD3;Q6PJG2	.;CN043_HUMAN	Q	517	ENSP00000377634:R517Q;ENSP00000286523:R517Q;ENSP00000407767:R517Q;ENSP00000402380:R517Q	ENSP00000286523:R517Q	R	-	2	0	C14orf43	73273653	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	5.104000	0.64584	2.732000	0.93576	0.655000	0.94253	CGA		0.552	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1		NM_194278		15	52	0	0	0	1	0	15	52		
COQ6	51004	broad.mit.edu	37	14	74428472	74428472	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:74428472G>C	ENST00000334571.2	+	11	1283	c.1243G>C	c.(1243-1245)Gaa>Caa	p.E415Q	COQ6_ENST00000554920.1_Intron|ENTPD5_ENST00000557325.1_Intron|COQ6_ENST00000394026.4_Missense_Mutation_p.E390Q|COQ6_ENST00000238709.4_Missense_Mutation_p.E340Q	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	415					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|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)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		TTATGAAACAGAAAGACAGCG	0.483																																						uc001xph.2		NaN																	0					0						c.(1243-1245)GAA>CAA		coenzyme Q6 homolog isoform a							165.0	157.0	160.0					14																	74428472		2203	4300	6503	SO:0001583	missense	51004				ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr14:74428472G>C	AF132944	CCDS9823.1, CCDS9824.1, CCDS9824.2	14q24.1	2013-05-01	2013-05-01		ENSG00000119723	ENSG00000119723			20233	protein-coding gene	gene with protein product		614647	"""coenzyme Q6 homolog (yeast)"", ""coenzyme Q6 homolog, monooxygenase (yeast)"", ""coenzyme Q6 homolog, monooxygenase (S. cerevisiae)"""			21540551	Standard	NM_182476		Approved	CGI-10	uc001xph.3	Q9Y2Z9	OTTHUMG00000171260	ENST00000334571.2:c.1243G>C	14.37:g.74428472G>C	ENSP00000333946:p.Glu415Gln					ENTPD5_uc001xpi.2_Intron|COQ6_uc001xpe.2_Missense_Mutation_p.E340Q|COQ6_uc001xpf.2_Missense_Mutation_p.E340Q|COQ6_uc010tuk.1_Missense_Mutation_p.E390Q|COQ6_uc001xpg.2_Intron	p.E415Q	NM_182476	NP_872282	Q9Y2Z9	COQ6_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00337)	11	1323	+			415					B7Z3K8|Q53GG6|Q86U30|Q96CA1|Q96CK2	Missense_Mutation	SNP	ENST00000334571.2	37	c.1243G>C	CCDS9823.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387418	0.42308	.	.	ENSG00000119723	ENST00000394026;ENST00000555376;ENST00000238709;ENST00000334571;ENST00000556299	T;T;T	0.59906	0.23;0.23;0.23	5.34	5.34	0.76211	Monooxygenase, FAD-binding (1);	0.135107	0.64402	D	0.000003	T	0.52322	0.1727	L	0.38175	1.15	0.80722	D	1	B;B;B;B	0.19331	0.018;0.032;0.014;0.035	B;B;B;B	0.29267	0.029;0.039;0.025;0.1	T	0.42241	-0.9463	10	0.21540	T	0.41	0.4414	19.2367	0.93864	0.0:0.0:1.0:0.0	.	390;415;340;340	B7Z3K8;Q9Y2Z9;G3XA86;Q86U30	.;COQ6_HUMAN;.;.	Q	390;340;340;415;103	ENSP00000377594:E390Q;ENSP00000238709:E340Q;ENSP00000333946:E415Q	ENSP00000238709:E340Q	E	+	1	0	COQ6	73498225	1.000000	0.71417	0.998000	0.56505	0.771000	0.43674	7.625000	0.83145	2.776000	0.95493	0.655000	0.94253	GAA		0.483	COQ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412616.1				56	160	0	0	0	1	0	56	160		
VRTN	55237	broad.mit.edu	37	14	74824374	74824374	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:74824374C>G	ENST00000256362.4	+	2	1129	c.888C>G	c.(886-888)ttC>ttG	p.F296L		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	296					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						AAAGCACCTTCTACCGCTGGC	0.647																																						uc001xpw.3		NaN																	0					0						c.(886-888)TTC>TTG		hypothetical protein LOC55237							40.0	41.0	41.0					14																	74824374		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824374C>G	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.888C>G	14.37:g.74824374C>G	ENSP00000256362:p.Phe296Leu						p.F296L	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00147)	2	1079	+			296					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.888C>G	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752454	0.69533	.	.	ENSG00000133980	ENST00000256362	T	0.41400	1.0	5.02	4.05	0.47172	.	0.000000	0.85682	D	0.000000	T	0.48333	0.1494	N	0.24115	0.695	0.43536	D	0.995822	D	0.89917	1.0	D	0.87578	0.998	T	0.50898	-0.8773	10	0.87932	D	0	-7.7658	12.0707	0.53616	0.0:0.9079:0.0:0.0921	.	296	Q9H8Y1	VRTN_HUMAN	L	296	ENSP00000256362:F296L	ENSP00000256362:F296L	F	+	3	2	VRTN	73894127	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.591000	0.36665	2.602000	0.87976	0.561000	0.74099	TTC		0.647	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1		NM_018228		33	89	0	0	0	1	0	33	89		
MLH3	27030	broad.mit.edu	37	14	75513113	75513113	+	Silent	SNP	C	C	T	rs369807408		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:75513113C>T	ENST00000556740.1	-	1	3281	c.3246G>A	c.(3244-3246)ctG>ctA	p.L1082L	MLH3_ENST00000556257.1_Silent_p.L1082L|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000380968.2_Silent_p.L28L|MLH3_ENST00000544985.1_Silent_p.L77L|MLH3_ENST00000238662.7_Silent_p.L1082L|MLH3_ENST00000355774.2_Silent_p.L1082L			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1082					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CCACAGTTGTCAGGTCTTTAG	0.438								Mismatch excision repair (MMR)																														uc001xrd.1		NaN																	0				ovary(1)|skin(1)	2						c.(3244-3246)CTG>CTA	MMR	mutL homolog 3 isoform 1							126.0	108.0	114.0					14																	75513113		2203	4300	6503	SO:0001819	synonymous_variant	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75513113C>T	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.3246G>A	14.37:g.75513113C>T						MLH3_uc001xre.1_Silent_p.L1082L|MLH3_uc010tuy.1_RNA	p.L1082L	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	3462	-			1082					P49751|Q56DK9|Q9P292|Q9UHC0	Silent	SNP	ENST00000556740.1	37	c.3246G>A	CCDS32123.1																																																																																				0.438	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1		NM_014381		25	75	0	0	0	1	0	25	75		
MLH3	27030	broad.mit.edu	37	14	75514904	75514904	+	Silent	SNP	C	C	T	rs571554175		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:75514904C>T	ENST00000556740.1	-	1	1490	c.1455G>A	c.(1453-1455)gaG>gaA	p.E485E	MLH3_ENST00000556257.1_Silent_p.E485E|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000238662.7_Silent_p.E485E|MLH3_ENST00000355774.2_Silent_p.E485E			Q9UHC1	MLH3_HUMAN	mutL homolog 3	485					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTTTATGTTTCTCATTTTCTC	0.363								Mismatch excision repair (MMR)																														uc001xrd.1		NaN																	0				ovary(1)|skin(1)	2						c.(1453-1455)GAG>GAA	MMR	mutL homolog 3 isoform 1							90.0	96.0	94.0					14																	75514904		2203	4300	6503	SO:0001819	synonymous_variant	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75514904C>T	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1455G>A	14.37:g.75514904C>T						MLH3_uc001xre.1_Silent_p.E485E|MLH3_uc010tuy.1_RNA	p.E485E	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	1671	-			485					P49751|Q56DK9|Q9P292|Q9UHC0	Silent	SNP	ENST00000556740.1	37	c.1455G>A	CCDS32123.1																																																																																				0.363	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1		NM_014381		28	78	0	0	0	1	0	28	78		
NEK9	91754	broad.mit.edu	37	14	75563842	75563842	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:75563842C>T	ENST00000238616.5	-	17	2292	c.2134G>A	c.(2134-2136)Gac>Aac	p.D712N		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	712					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CAAGACAGGTCCGGGACATGA	0.522																																						uc001xrl.2		NaN																	0				lung(2)|stomach(2)|ovary(1)	5						c.(2134-2136)GAC>AAC		NIMA-related kinase 9							90.0	76.0	81.0					14																	75563842		2203	4300	6503	SO:0001583	missense	91754				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr14:75563842C>T	AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.2134G>A	14.37:g.75563842C>T	ENSP00000238616:p.Asp712Asn					NEK9_uc001xrk.2_Missense_Mutation_p.D212N	p.D712N	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00718)	17	2288	-			712			RCC1 6.		Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Missense_Mutation	SNP	ENST00000238616.5	37	c.2134G>A	CCDS9839.1	.	.	.	.	.	.	.	.	.	.	C	35	5.566325	0.96540	.	.	ENSG00000119638	ENST00000238616	T	0.81078	-1.45	5.72	5.72	0.89469	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.85102	0.5620	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.87578	0.984;0.998	D	0.85591	0.1246	10	0.56958	D	0.05	.	20.2504	0.98404	0.0:1.0:0.0:0.0	.	712;55	Q8TD19;Q6PKF2	NEK9_HUMAN;.	N	712	ENSP00000238616:D712N	ENSP00000238616:D712N	D	-	1	0	NEK9	74633595	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	7.776000	0.85560	2.850000	0.98022	0.650000	0.86243	GAC		0.522	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1		NM_033116		12	45	0	0	0	1	0	12	45		
FLVCR2	55640	broad.mit.edu	37	14	76045555	76045555	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:76045555G>A	ENST00000238667.4	+	1	596	c.240G>A	c.(238-240)gtG>gtA	p.V80V	AC007182.6_ENST00000455232.1_RNA	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	80					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGATCAAGGTGAGCAGGCGCC	0.597																																						uc001xrs.2		NaN																	0					0						c.(238-240)GTG>GTA		feline leukemia virus subgroup C cellular							128.0	113.0	118.0					14																	76045555		2203	4300	6503	SO:0001819	synonymous_variant	55640				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	g.chr14:76045555G>A	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.240G>A	14.37:g.76045555G>A							p.V80V	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	1	616	+			80					B7Z485|Q53ZT9|Q96JY3|Q9NX90	Silent	SNP	ENST00000238667.4	37	c.240G>A	CCDS9844.1																																																																																				0.597	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1		NM_017791		43	141	0	0	0	1	0	43	141		
GPATCH2L	55668	broad.mit.edu	37	14	76638345	76638345	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:76638345C>G	ENST00000261530.7	+	4	953	c.887C>G	c.(886-888)tCt>tGt	p.S296C	GPATCH2L_ENST00000557263.1_Missense_Mutation_p.S296C|GPATCH2L_ENST00000556663.1_Missense_Mutation_p.S296C|GPATCH2L_ENST00000312858.5_Missense_Mutation_p.S296C	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	296																	CTTTTACCTTCTCGGCCAGCT	0.443																																						uc001xsh.2		NaN																	0				ovary(2)|skin(1)	3						c.(886-888)TCT>TGT		hypothetical protein LOC55668 isoform 1							77.0	75.0	76.0					14																	76638345		2203	4300	6503	SO:0001583	missense	55668							g.chr14:76638345C>G	AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 118"""	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.887C>G	14.37:g.76638345C>G	ENSP00000261530:p.Ser296Cys					C14orf118_uc001xsi.2_Missense_Mutation_p.S296C|C14orf118_uc001xsj.1_Missense_Mutation_p.S296C|C14orf118_uc001xsk.1_Missense_Mutation_p.S296C|C14orf118_uc001xsl.2_RNA	p.S296C	NM_017926	NP_060396	Q9NWQ4	CN118_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0172)	4	973	+			296					B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Missense_Mutation	SNP	ENST00000261530.7	37	c.887C>G	CCDS9848.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810123	0.70797	.	.	ENSG00000089916	ENST00000336993;ENST00000557263;ENST00000312858;ENST00000261530;ENST00000556663	T;T;T;T	0.60040	0.24;0.49;0.22;0.24	5.43	4.54	0.55810	.	0.151092	0.46758	D	0.000263	T	0.68201	0.2975	M	0.62723	1.935	0.80722	D	1	D;D;D	0.69078	0.982;0.969;0.997	P;P;P	0.58873	0.54;0.73;0.847	T	0.71981	-0.4428	10	0.72032	D	0.01	-38.511	12.528	0.56098	0.0:0.9236:0.0:0.0764	.	296;296;296	Q9NWQ4-1;Q9NWQ4-4;Q9NWQ4	.;.;CN118_HUMAN	C	296	ENSP00000451587:S296C;ENSP00000323775:S296C;ENSP00000261530:S296C;ENSP00000450657:S296C	ENSP00000261530:S296C	S	+	2	0	C14orf118	75708098	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.423000	0.52756	1.520000	0.48965	0.655000	0.94253	TCT		0.443	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2		NM_017926		22	57	0	0	0	1	0	22	57		
IRF2BPL	64207	broad.mit.edu	37	14	77493965	77493965	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:77493965C>T	ENST00000238647.3	-	1	1069	c.171G>A	c.(169-171)ctG>ctA	p.L57L		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	57					development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GCGCCCGCTTCAGCTGGCGCG	0.692																																						uc001xsy.2		NaN																	0					0						c.(169-171)CTG>CTA		chromosome 14 open reading frame 4							11.0	14.0	13.0					14																	77493965		2186	4276	6462	SO:0001819	synonymous_variant	64207					nucleus		g.chr14:77493965C>T	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.171G>A	14.37:g.77493965C>T							p.L57L	NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)	1	1070	-			57					Q8NDQ2|Q96JG2|Q9H3I7	Silent	SNP	ENST00000238647.3	37	c.171G>A	CCDS9854.1																																																																																				0.692	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1		NM_024496		9	18	0	0	0	1	0	9	18		
TMEM63C	57156	broad.mit.edu	37	14	77706018	77706018	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:77706018C>T	ENST00000298351.4	+	12	1023	c.879C>T	c.(877-879)atC>atT	p.I293I		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	293					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TGATCAGGATCCACCCCTGTG	0.612																																						uc001xtf.2		NaN																	0					0						c.(877-879)ATC>ATT		transmembrane protein 63C							37.0	43.0	41.0					14																	77706018		1996	4155	6151	SO:0001819	synonymous_variant	57156					integral to membrane		g.chr14:77706018C>T		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.879C>T	14.37:g.77706018C>T						TMEM63C_uc010asq.1_Silent_p.I293I	p.I293I	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)	12	1091	+			293					B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Silent	SNP	ENST00000298351.4	37	c.879C>T	CCDS45141.1																																																																																				0.612	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1				13	33	0	0	0	1	0	13	33		
POMT2	29954	broad.mit.edu	37	14	77746776	77746776	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:77746776C>T	ENST00000261534.4	-	16	1886	c.1684G>A	c.(1684-1686)Gag>Aag	p.E562K		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	562						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GACGTGAACTCATTGTCCTTG	0.532																																						uc001xti.2		NaN																	0				ovary(1)	1						c.(1684-1686)GAG>AAG		protein-O-mannosyltransferase 2							186.0	162.0	170.0					14																	77746776		2203	4300	6503	SO:0001583	missense	29954				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr14:77746776C>T	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.1684G>A	14.37:g.77746776C>T	ENSP00000261534:p.Glu562Lys					POMT2_uc001xth.1_Missense_Mutation_p.E260K	p.E562K	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)	16	1885	-			562					Q9NSG6|Q9P1W0|Q9P1W2	Missense_Mutation	SNP	ENST00000261534.4	37	c.1684G>A	CCDS9857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.796755|5.796755	0.96952|0.96952	.|.	.|.	ENSG00000009830|ENSG00000009830	ENST00000261534|ENST00000556171	D|.	0.92249|.	-3.0|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.107288|.	0.64402|.	D|.	0.000007|.	T|T	0.70701|0.70701	0.3254|0.3254	L|L	0.49513|0.49513	1.565|1.565	0.80722|0.80722	D|D	1|1	D|.	0.55605|.	0.972|.	P|.	0.49853|.	0.624|.	T|T	0.66520|0.66520	-0.5903|-0.5903	10|5	0.07030|.	T|.	0.85|.	-5.6927|-5.6927	19.3746|19.3746	0.94503|0.94503	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	562|.	Q9UKY4|.	POMT2_HUMAN|.	K|I	562|29	ENSP00000261534:E562K|.	ENSP00000261534:E562K|.	E|M	-|-	1|3	0|0	POMT2|POMT2	76816529|76816529	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.717000|7.717000	0.84732|0.84732	2.584000|2.584000	0.87258|0.87258	0.563000|0.563000	0.77884|0.77884	GAG|ATG		0.532	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1		NM_013382		30	64	0	0	0	1	0	30	64		
SPTLC2	9517	broad.mit.edu	37	14	78063675	78063675	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:78063675C>T	ENST00000216484.2	-	2	374	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	61				EAFE -> TLAR (in Ref. 5; AAC50871). {ECO:0000305}.	ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	TCAAAAGCTTCATTAAACGGT	0.383																																						uc001xub.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(181-183)GAA>AAA		serine palmitoyltransferase, long chain base	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						119.0	101.0	107.0					14																	78063675		2203	4300	6503	SO:0001583	missense	9517					integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr14:78063675C>T	AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.181G>A	14.37:g.78063675C>T	ENSP00000216484:p.Glu61Lys						p.E61K	NM_004863	NP_004854	O15270	SPTC2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	2	369	-			61	EAFE -> TLAR (in Ref. 5; AAC50871).				Q16685	Missense_Mutation	SNP	ENST00000216484.2	37	c.181G>A	CCDS9865.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411748	0.83340	.	.	ENSG00000100596	ENST00000216484	T	0.69561	-0.41	4.88	4.88	0.63580	.	0.096596	0.64402	D	0.000001	T	0.66694	0.2815	M	0.69823	2.125	0.80722	D	1	P	0.45672	0.864	B	0.37833	0.259	T	0.74910	-0.3503	10	0.66056	D	0.02	-19.7915	18.3906	0.90481	0.0:1.0:0.0:0.0	.	61	O15270	SPTC2_HUMAN	K	61	ENSP00000216484:E61K	ENSP00000216484:E61K	E	-	1	0	SPTLC2	77133428	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.688000	0.84153	2.412000	0.81896	0.591000	0.81541	GAA		0.383	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1		NM_004863		8	46	0	0	0	1	0	8	46		
PTPN21	11099	broad.mit.edu	37	14	88945337	88945337	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:88945337G>C	ENST00000556564.1	-	13	2722	c.2438C>G	c.(2437-2439)tCt>tGt	p.S813C	PTPN21_ENST00000328736.3_Missense_Mutation_p.S813C	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	813					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTTCTTCAGAGAGTCCCTCCG	0.662																																						uc001xwv.3		NaN																	0				ovary(3)|skin(1)	4						c.(2437-2439)TCT>TGT		protein tyrosine phosphatase, non-receptor type							48.0	55.0	53.0					14																	88945337		2203	4300	6503	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88945337G>C	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2438C>G	14.37:g.88945337G>C	ENSP00000452414:p.Ser813Cys					PTPN21_uc010twc.1_Missense_Mutation_p.S609C	p.S813C	NM_007039	NP_008970	Q16825	PTN21_HUMAN			13	2769	-			813						Missense_Mutation	SNP	ENST00000556564.1	37	c.2438C>G	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132271	0.56828	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.73363	-0.74;-0.74	5.55	5.55	0.83447	.	0.324665	0.33382	N	0.004978	T	0.78214	0.4248	L	0.51422	1.61	0.41122	D	0.985829	D	0.63880	0.993	P	0.50231	0.635	T	0.80324	-0.1430	10	0.62326	D	0.03	.	19.5084	0.95130	0.0:0.0:1.0:0.0	.	813	Q16825	PTN21_HUMAN	C	813	ENSP00000330276:S813C;ENSP00000452414:S813C	ENSP00000330276:S813C	S	-	2	0	PTPN21	88015090	1.000000	0.71417	0.832000	0.32986	0.040000	0.13550	4.302000	0.59092	2.612000	0.88384	0.655000	0.94253	TCT		0.662	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1				42	110	0	0	0	1	0	42	110		
EML5	161436	broad.mit.edu	37	14	89131686	89131686	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:89131686G>A	ENST00000380664.5	-	22	3271	c.3272C>T	c.(3271-3273)tCa>tTa	p.S1091L	EML5_ENST00000554922.1_Missense_Mutation_p.S1091L|EML5_ENST00000352093.5_Missense_Mutation_p.S1053L			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1091						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTTACCAGGTGAAAATCGAAT	0.333																																						uc001xxg.2		NaN																	0				ovary(3)	3						c.(3271-3273)TCA>TTA		echinoderm microtubule associated protein like							34.0	32.0	33.0					14																	89131686		1835	4095	5930	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89131686G>A	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.3272C>T	14.37:g.89131686G>A	ENSP00000370039:p.Ser1091Leu					EML5_uc001xxf.2_5'UTR|EML5_uc001xxh.1_Missense_Mutation_p.S230L	p.S1091L	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN			23	3458	-			1091			WD 18.		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.3272C>T	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860734	0.91433	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.52754	0.65;2.0;0.65	5.31	5.31	0.75309	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.79070	0.4384	H	0.97829	4.085	0.58432	D	0.999998	P;P	0.51240	0.943;0.925	P;P	0.58721	0.844;0.803	D	0.86719	0.1941	10	0.87932	D	0	-4.077	18.7613	0.91853	0.0:0.0:1.0:0.0	.	1091;1091	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	L	1091;1053;1091	ENSP00000451998:S1091L;ENSP00000298315:S1053L;ENSP00000370039:S1091L	ENSP00000298315:S1053L	S	-	2	0	EML5	88201439	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	9.263000	0.95617	2.770000	0.95276	0.655000	0.94253	TCA		0.333	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1				6	18	0	0	0	1	0	6	18		
TTC7B	145567	broad.mit.edu	37	14	91282539	91282539	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:91282539G>A	ENST00000328459.6	-	1	222	c.101C>T	c.(100-102)tCg>tTg	p.S34L	TTC7B_ENST00000357056.2_Missense_Mutation_p.S34L	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	34										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GAGCTTGGCCGACAGCTGCTT	0.751																																						uc001xyp.2		NaN																	0				ovary(2)	2						c.(100-102)TCG>TTG		tetratricopeptide repeat domain 7B																																				SO:0001583	missense	145567						binding	g.chr14:91282539G>A	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.101C>T	14.37:g.91282539G>A	ENSP00000336127:p.Ser34Leu						p.S34L	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN			1	223	-		Melanoma(154;0.222)	34					Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	c.101C>T	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997681	0.35226	.	.	ENSG00000165914	ENST00000357056;ENST00000328459	T;T	0.37915	1.85;1.17	3.0	1.02	0.19986	.	0.000000	0.49916	U	0.000132	T	0.24547	0.0595	L	0.40543	1.245	0.41728	D	0.989543	B	0.02656	0.0	B	0.04013	0.001	T	0.05007	-1.0912	10	0.38643	T	0.18	3.0006	6.314	0.21180	0.1052:0.0:0.7139:0.1808	.	34	Q86TV6	TTC7B_HUMAN	L	34	ENSP00000349564:S34L;ENSP00000336127:S34L	ENSP00000336127:S34L	S	-	2	0	TTC7B	90352292	1.000000	0.71417	0.954000	0.39281	0.443000	0.32047	5.379000	0.66196	-0.125000	0.11703	-0.384000	0.06662	TCG		0.751	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2				10	39	0	0	0	1	0	10	39		
RPS6KA5	9252	broad.mit.edu	37	14	91372534	91372534	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:91372534G>A	ENST00000261991.3	-	8	1089	c.916C>T	c.(916-918)Cca>Tca	p.P306S	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.P306S|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.P227S|RPS6KA5_ENST00000556304.1_5'Flank	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	306	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		GCATCACGTGGACCACATCCC	0.408																																						uc001xys.2		NaN																	0				ovary(1)	1						c.(916-918)CCA>TCA		ribosomal protein S6 kinase, polypeptide 5							125.0	114.0	118.0					14																	91372534		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91372534G>A	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.916C>T	14.37:g.91372534G>A	ENSP00000261991:p.Pro306Ser					RPS6KA5_uc010twi.1_Missense_Mutation_p.P227S|RPS6KA5_uc001xyt.2_Missense_Mutation_p.P306S|RPS6KA5_uc010att.1_RNA	p.P306S	NM_004755	NP_004746	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	8	1131	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	306			Protein kinase 1.		O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.916C>T	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681510	0.68042	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.73152	-0.72;-0.72;-0.72	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.56108	0.1963	N	0.11673	0.155	0.80722	D	1	B;B	0.14438	0.003;0.01	B;B	0.14023	0.01;0.01	T	0.49925	-0.8887	10	0.37606	T	0.19	.	19.6797	0.95957	0.0:0.0:1.0:0.0	.	306;306	O75582-2;O75582	.;KS6A5_HUMAN	S	306;227;306	ENSP00000261991:P306S;ENSP00000442803:P227S;ENSP00000402787:P306S	ENSP00000261991:P306S	P	-	1	0	RPS6KA5	90442287	1.000000	0.71417	0.959000	0.39883	0.972000	0.66771	7.597000	0.82733	2.727000	0.93392	0.585000	0.79938	CCA		0.408	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2		NM_004755		12	69	0	0	0	1	0	12	69		
ATXN3	4287	broad.mit.edu	37	14	92560118	92560118	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:92560118C>G	ENST00000532032.1	-	4	301	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	ATXN3_ENST00000340660.6_Missense_Mutation_p.E43Q|ATXN3_ENST00000429774.2_Missense_Mutation_p.E83Q|ATXN3_ENST00000502250.1_Intron|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000503767.1_Missense_Mutation_p.E83Q|ATXN3_ENST00000545170.1_Missense_Mutation_p.E98Q|ATXN3_ENST00000393287.5_Missense_Mutation_p.E98Q			P54252	ATX3_HUMAN	ataxin 3	98	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		CTCTGATACTCTGGACTGTTG	0.333																																					Esophageal Squamous(190;752 2094 29897 44875 49530)	uc001yac.3		NaN																	0					0						c.(292-294)GAG>CAG		ataxin 3 reference isoform							105.0	104.0	105.0					14																	92560118		2203	4300	6503	SO:0001583	missense	4287				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding	g.chr14:92560118C>G	U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"""Ataxins"""	7106	protein-coding gene	gene with protein product		607047	"""Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"""	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.292G>C	14.37:g.92560118C>G	ENSP00000437157:p.Glu98Gln					ATXN3_uc010aug.2_Missense_Mutation_p.E83Q|ATXN3_uc001yad.3_Missense_Mutation_p.E43Q|ATXN3_uc010auh.2_Intron|ATXN3_uc001yae.3_Intron|ATXN3_uc010twl.1_Intron	p.E98Q	NM_004993	NP_004984	P54252	ATX3_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	4	361	-		all_cancers(154;0.0768)	98			Josephin.		A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	Missense_Mutation	SNP	ENST00000532032.1	37	c.292G>C		.	.	.	.	.	.	.	.	.	.	C	21.0	4.080813	0.76528	.	.	ENSG00000066427	ENST00000545278;ENST00000539555;ENST00000537884;ENST00000545170;ENST00000447800;ENST00000359819;ENST00000393289;ENST00000429774;ENST00000539454;ENST00000393287;ENST00000503767;ENST00000340660;ENST00000532032;ENST00000555381;ENST00000554592	T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.54967	0.1891	M	0.67700	2.07	0.80722	D	1	B;P;B	0.44776	0.095;0.843;0.043	B;P;B	0.47981	0.128;0.563;0.095	T	0.57318	-0.7832	10	0.72032	D	0.01	.	20.0683	0.97708	0.0:1.0:0.0:0.0	.	83;43;98	E9PB63;P54252-3;P54252-2	.;.;.	Q	98;98;98;98;98;98;98;83;97;98;83;43;98;28;97	ENSP00000445618:E98Q;ENSP00000389376:E83Q;ENSP00000376965:E98Q;ENSP00000426697:E83Q;ENSP00000339110:E43Q;ENSP00000437157:E98Q;ENSP00000451001:E28Q;ENSP00000451385:E97Q	ENSP00000339110:E43Q	E	-	1	0	ATXN3	91629871	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.257000	0.78362	2.735000	0.93741	0.650000	0.86243	GAG		0.333	ATXN3-015	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388065.1		NM_004993		15	62	0	0	0	1	0	15	62		
UNC79	57578	broad.mit.edu	37	14	94044269	94044269	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:94044269C>T	ENST00000393151.2	+	18	2293	c.2293C>T	c.(2293-2295)Cgg>Tgg	p.R765W	UNC79_ENST00000553484.1_Missense_Mutation_p.R765W|UNC79_ENST00000555664.1_Missense_Mutation_p.R765W|UNC79_ENST00000256339.4_Missense_Mutation_p.R588W			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	765					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GAGTCCGTTTCGGAGTCCTTT	0.448																																						uc001ybv.1		NaN																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(1762-1764)CGG>TGG		hypothetical protein LOC57578							249.0	227.0	235.0					14																	94044269		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94044269C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2293C>T	14.37:g.94044269C>T	ENSP00000376858:p.Arg765Trp					KIAA1409_uc001ybs.1_Missense_Mutation_p.R588W	p.R588W	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	15	1845	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	765					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.1762C>T		.	.	.	.	.	.	.	.	.	.	C	26.5	4.744312	0.89663	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19532	2.15;2.14;2.15;2.15	5.22	4.33	0.51752	.	0.066947	0.64402	D	0.000017	T	0.22859	0.0552	L	0.29908	0.895	0.53688	D	0.999978	D	0.65815	0.995	P	0.50049	0.629	T	0.01341	-1.1380	10	0.66056	D	0.02	-8.8743	13.1852	0.59677	0.0:0.923:0.0:0.077	.	765	C9JQL1	.	W	588;765;765;765;765	ENSP00000256339:R588W;ENSP00000450868:R765W;ENSP00000451360:R765W;ENSP00000376858:R765W	ENSP00000256339:R588W	R	+	1	2	KIAA1409	93114022	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.821000	0.62679	2.444000	0.82710	0.650000	0.86243	CGG		0.448	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1		XM_028395		37	168	0	0	0	1	0	37	168		
EML1	2009	broad.mit.edu	37	14	100405533	100405533	+	Splice_Site	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:100405533G>T	ENST00000262233.6	+	21	2330		c.e21-1		EML1_ENST00000327921.9_Splice_Site|EML1_ENST00000334192.4_Splice_Site	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1						brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CTTTGTTTTAGGAGTGTGGCC	0.572																																						uc001ygs.2		NaN																	0				large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5						c.e21-1		echinoderm microtubule associated protein like 1							93.0	86.0	88.0					14																	100405533		2203	4300	6503	SO:0001630	splice_region_variant	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100405533G>T	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2192-1G>T	14.37:g.100405533G>T						EML1_uc010tww.1_Splice_Site_p.G719_splice|EML1_uc001ygr.2_Splice_Site_p.G750_splice	p.G731_splice	NM_004434	NP_004425	O00423	EMAL1_HUMAN			21	2261	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)						Q86U15|Q8N536|Q8N5C4|Q8WWL6	Splice_Site	SNP	ENST00000262233.6	37	c.2192_splice	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378661	0.82682	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9835	0.89148	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EML1	99475286	1.000000	0.71417	0.991000	0.47740	0.947000	0.59692	9.544000	0.98092	2.322000	0.78497	0.561000	0.74099	.		0.572	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1		NM_001008707	Intron	16	77	1	0	1.02788e-11	1	1.07753e-11	16	77		
EML1	2009	broad.mit.edu	37	14	100405640	100405640	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:100405640C>G	ENST00000262233.6	+	21	2437	c.2298C>G	c.(2296-2298)ttC>ttG	p.F766L	EML1_ENST00000327921.9_Missense_Mutation_p.F754L|EML1_ENST00000334192.4_Missense_Mutation_p.F785L	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	766	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.F785L(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGCACCTCTTCTCATACCCCT	0.537																																						uc001ygs.2		NaN																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5						c.(2296-2298)TTC>TTG		echinoderm microtubule associated protein like 1							116.0	109.0	111.0					14																	100405640		2203	4300	6503	SO:0001583	missense	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100405640C>G	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2298C>G	14.37:g.100405640C>G	ENSP00000262233:p.Phe766Leu					EML1_uc010tww.1_Missense_Mutation_p.F754L|EML1_uc001ygr.2_Missense_Mutation_p.F785L	p.F766L	NM_004434	NP_004425	O00423	EMAL1_HUMAN			21	2367	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	766			WD 10.		Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	c.2298C>G	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177983	0.57692	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T	0.18338	2.22;2.22;2.22	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.23094	0.0558	M	0.81942	2.565	0.80722	D	1	P;P;P	0.43352	0.688;0.735;0.804	B;B;B	0.38562	0.276;0.21;0.276	T	0.08513	-1.0718	10	0.87932	D	0	-24.9118	11.2454	0.48993	0.0:0.9141:0.0:0.0859	.	754;766;785	F8W717;O00423;O00423-3	.;EMAL1_HUMAN;.	L	754;766;785;785	ENSP00000327384:F754L;ENSP00000262233:F766L;ENSP00000334314:F785L	ENSP00000262233:F766L	F	+	3	2	EML1	99475393	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	3.861000	0.56002	2.240000	0.73641	0.561000	0.74099	TTC		0.537	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1		NM_001008707		20	67	0	0	0	1	0	20	67		
BEGAIN	57596	broad.mit.edu	37	14	101005143	101005143	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:101005143G>A	ENST00000355173.2	-	7	1016	c.945C>T	c.(943-945)gcC>gcT	p.A315A	CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000443071.2_Silent_p.A315A|BEGAIN_ENST00000556751.1_Silent_p.A251A	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	315						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				TCAGCGTGCTGGCCTGCGCGT	0.672																																					NSCLC(159;1889 2010 9965 27479 40101)	uc010txa.1		NaN																	0					0						c.(943-945)GCC>GCT		brain-enriched guanylate kinase-associated							40.0	35.0	37.0					14																	101005143		2195	4298	6493	SO:0001819	synonymous_variant	57596					cytoplasm|membrane	protein binding	g.chr14:101005143G>A	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"""brain-enriched guanylate kinase-associated homolog (rat)"""			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.945C>T	14.37:g.101005143G>A						BEGAIN_uc001yhp.2_Silent_p.A251A|BEGAIN_uc001yhq.2_Silent_p.A315A	p.A315A	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN			6	1091	-		Melanoma(154;0.212)	315					Q9NPU3|Q9P282	Silent	SNP	ENST00000355173.2	37	c.945C>T	CCDS9962.1																																																																																				0.672	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1		NM_020836		9	17	0	0	0	1	0	9	17		
BEGAIN	57596	broad.mit.edu	37	14	101005461	101005461	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:101005461G>A	ENST00000355173.2	-	7	698	c.627C>T	c.(625-627)ttC>ttT	p.F209F	CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000443071.2_Silent_p.F209F|BEGAIN_ENST00000556751.1_Silent_p.F145F	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	209						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				CCCCGTCGCAGAAGGCCAGGT	0.692																																					NSCLC(159;1889 2010 9965 27479 40101)	uc010txa.1		NaN																	0					0						c.(625-627)TTC>TTT		brain-enriched guanylate kinase-associated							17.0	22.0	20.0					14																	101005461		2201	4296	6497	SO:0001819	synonymous_variant	57596					cytoplasm|membrane	protein binding	g.chr14:101005461G>A	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"""brain-enriched guanylate kinase-associated homolog (rat)"""			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.627C>T	14.37:g.101005461G>A						BEGAIN_uc001yhp.2_Silent_p.F145F|BEGAIN_uc001yhq.2_Silent_p.F209F	p.F209F	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN			6	773	-		Melanoma(154;0.212)	209					Q9NPU3|Q9P282	Silent	SNP	ENST00000355173.2	37	c.627C>T	CCDS9962.1																																																																																				0.692	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1		NM_020836		10	29	0	0	0	1	0	10	29		
PLD4	122618	broad.mit.edu	37	14	105397102	105397102	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:105397102C>T	ENST00000392593.4	+	7	909	c.741C>T	c.(739-741)atC>atT	p.I247I	PLD4_ENST00000540372.1_Silent_p.I254I|PLD4_ENST00000553861.1_5'Flank	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	247					glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			GCGCTGTCATCTATAACTGCA	0.617																																						uc001ypu.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(739-741)ATC>ATT		phospholipase D4	Choline(DB00122)						83.0	88.0	87.0					14																	105397102		1956	4139	6095	SO:0001819	synonymous_variant	122618				lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity	g.chr14:105397102C>T		CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 175"""	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.741C>T	14.37:g.105397102C>T						PLD4_uc010tyl.1_Silent_p.I254I	p.I247I	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		7	882	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	247					Q6UWD2	Silent	SNP	ENST00000392593.4	37	c.741C>T	CCDS9995.2																																																																																				0.617	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000291348.2		NM_138790		39	119	0	0	0	1	0	39	119		
AHNAK2	113146	broad.mit.edu	37	14	105410848	105410848	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:105410848G>T	ENST00000333244.5	-	7	11059	c.10940C>A	c.(10939-10941)tCa>tAa	p.S3647*	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3647						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TACCCTGAATGACGGCATCTT	0.587																																						uc010axc.1		NaN																	0				ovary(1)	1						c.(10939-10941)TCA>TAA		AHNAK nucleoprotein 2							192.0	203.0	199.0					14																	105410848		1995	4161	6156	SO:0001587	stop_gained	113146					nucleus		g.chr14:105410848G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10940C>A	14.37:g.105410848G>T	ENSP00000353114:p.Ser3647*					AHNAK2_uc001ypx.2_Nonsense_Mutation_p.S3547*	p.S3647*	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	11060	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3647					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Nonsense_Mutation	SNP	ENST00000333244.5	37	c.10940C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	52	18.653360	0.99908	.	.	ENSG00000185567	ENST00000333244	.	.	.	4.3	3.4	0.38934	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	4.7548	0.13078	0.0861:0.214:0.5648:0.1351	.	.	.	.	X	3647	.	ENSP00000353114:S3647X	S	-	2	0	AHNAK2	104481893	0.812000	0.29077	0.009000	0.14445	0.004000	0.04260	3.005000	0.49521	0.804000	0.34136	-0.339000	0.08088	TCA		0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420		85	307	1	0	1.07134e-49	1	1.14723e-49	85	307		
AHNAK2	113146	broad.mit.edu	37	14	105415185	105415185	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:105415185G>A	ENST00000333244.5	-	7	6722	c.6603C>T	c.(6601-6603)ctC>ctT	p.L2201L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2201						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTGAATGCTGAGGTCAGTGG	0.637																																						uc010axc.1		NaN																	0				ovary(1)	1						c.(6601-6603)CTC>CTT		AHNAK nucleoprotein 2							120.0	104.0	109.0					14																	105415185		1940	4130	6070	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105415185G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6603C>T	14.37:g.105415185G>A						AHNAK2_uc001ypx.2_Silent_p.L2101L	p.L2201L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	6723	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2201					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.6603C>T	CCDS45177.1																																																																																				0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420		78	135	0	0	0	1	0	78	135		
MAGEL2	54551	broad.mit.edu	37	15	23889330	23889330	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:23889330C>T	ENST00000532292.1	-	1	1845	c.1751G>A	c.(1750-1752)cGa>cAa	p.R584Q		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	467					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CAGGAATGCTCGAGGGCCCCA	0.512																																						uc001ywj.3		NaN																	0					0						c.(1750-1752)CGA>CAA		MAGE-like protein 2							54.0	55.0	54.0					15																	23889330		1916	4118	6034	SO:0001583	missense	54551							g.chr15:23889330C>T	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1751G>A	15.37:g.23889330C>T	ENSP00000433433:p.Arg584Gln						p.R584Q	NM_019066	NP_061939				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	1846	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.1751G>A		.	.	.	.	.	.	.	.	.	.	C	18.57	3.653066	0.67472	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.52	3.6	0.41247	.	.	.	.	.	T	0.71048	0.3294	M	0.87269	2.87	0.34391	D	0.694221	.	.	.	.	.	.	T	0.79794	-0.1653	5	.	.	.	.	8.5435	0.33406	0.0:0.8969:0.0:0.1031	.	.	.	.	K	616	.	.	E	-	1	0	MAGEL2	21440423	0.904000	0.30761	0.876000	0.34364	0.937000	0.57800	1.739000	0.38217	1.498000	0.48600	0.462000	0.41574	GAG		0.512	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2		NM_019066		23	51	0	0	0	1	0	23	51		
APBA2	321	broad.mit.edu	37	15	29367150	29367150	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:29367150G>A	ENST00000558402.1	+	6	1577	c.978G>A	c.(976-978)agG>agA	p.R326R	APBA2_ENST00000558330.1_Silent_p.R326R|APBA2_ENST00000411764.1_Silent_p.R326R|APBA2_ENST00000558259.1_Silent_p.R326R|APBA2_ENST00000561069.1_Silent_p.R326R			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	326					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGCAGCCAAGGAAGCAGCAGC	0.418																																						uc001zck.2		NaN																	0					0						c.(976-978)AGG>AGA		amyloid beta A4 precursor protein-binding,							91.0	84.0	86.0					15																	29367150		2203	4300	6503	SO:0001819	synonymous_variant	321				nervous system development|protein transport		protein binding	g.chr15:29367150G>A	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.978G>A	15.37:g.29367150G>A						APBA2_uc010azj.2_Silent_p.R326R|APBA2_uc010uat.1_Silent_p.R326R|APBA2_uc001zcl.2_Silent_p.R326R|APBA2_uc001zcm.1_Silent_p.R30R	p.R326R	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	4	1185	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	326					E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	c.978G>A	CCDS10022.1																																																																																				0.418	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3		NM_005503		13	28	0	0	0	1	0	13	28		
CHRFAM7A	89832	broad.mit.edu	37	15	30659650	30659650	+	Missense_Mutation	SNP	C	C	T	rs368423557		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:30659650C>T	ENST00000299847.2	-	9	1144	c.691G>A	c.(691-693)Gac>Aac	p.D231N	CHRFAM7A_ENST00000397827.3_Missense_Mutation_p.D140N|CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.D140N	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	231						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CCGTCGGGGTCGTGGTGGTGG	0.597																																						uc001zdt.1		NaN																	0				skin(1)	1						c.(691-693)GAC>AAC		CHRNA7-FAM7A fusion isoform 1		C	ASN/ASP,ASN/ASP	0,4382		0,0,2191	82.0	75.0	77.0		691,418	3.2	1.0	15		77	1,8565		0,1,4282	no	missense,missense	CHRFAM7A	NM_139320.1,NM_148911.1	23,23	0,1,6473	TT,TC,CC		0.0117,0.0,0.0077	possibly-damaging,possibly-damaging	231/413,140/322	30659650	1,12947	2191	4283	6474	SO:0001583	missense	89832					integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity	g.chr15:30659650C>T	AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.691G>A	15.37:g.30659650C>T	ENSP00000299847:p.Asp231Asn					DKFZP434L187_uc001zds.2_Intron|CHRFAM7A_uc001zdu.1_Missense_Mutation_p.D140N|CHRFAM7A_uc010azn.2_Missense_Mutation_p.D140N	p.D231N	NM_139320	NP_647536	Q494W8	CRFM7_HUMAN		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)	9	1257	-		all_lung(180;3.42e-11)|Breast(32;0.000153)	231					A8KAB9	Missense_Mutation	SNP	ENST00000299847.2	37	c.691G>A	CCDS32184.1	.	.	.	.	.	.	.	.	.	.	.	17.54	3.414289	0.62511	0.0	1.17E-4	ENSG00000166664	ENST00000299847;ENST00000397827;ENST00000401522	D;D;D	0.85339	-1.97;-1.97;-1.97	3.23	3.23	0.37069	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.044020	0.85682	D	0.000000	T	0.77685	0.4167	L	0.35723	1.085	0.80722	D	1	P	0.36944	0.574	B	0.36134	0.218	T	0.76984	-0.2756	10	0.38643	T	0.18	.	12.3474	0.55128	0.0:1.0:0.0:0.0	.	231	Q494W8	CRFM7_HUMAN	N	231;140;140	ENSP00000299847:D231N;ENSP00000380927:D140N;ENSP00000385389:D140N	ENSP00000299847:D231N	D	-	1	0	CHRFAM7A	28446942	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	5.535000	0.67173	1.535000	0.49220	0.398000	0.26397	GAC		0.597	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430700.1		NM_148911		12	68	0	0	0	1	0	12	68		
MTMR10	54893	broad.mit.edu	37	15	31239356	31239356	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:31239356G>A	ENST00000435680.1	-	14	1622	c.1525C>T	c.(1525-1527)Cac>Tac	p.H509Y	MTMR10_ENST00000425768.1_3'UTR|MTMR10_ENST00000314404.8_Missense_Mutation_p.H261Y|MTMR10_ENST00000563714.1_Missense_Mutation_p.H427Y	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	509	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		ACTCGCTGGTGAGGGGAGTTG	0.473																																						uc001zfh.1		NaN																	0				ovary(1)	1						c.(1525-1527)CAC>TAC		myotubularin related protein 10							180.0	181.0	181.0					15																	31239356		1964	4166	6130	SO:0001583	missense	54893						phosphatase activity	g.chr15:31239356G>A	AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.1525C>T	15.37:g.31239356G>A	ENSP00000402537:p.His509Tyr					MTMR10_uc010ubk.1_5'UTR|MTMR10_uc001zfg.1_Missense_Mutation_p.H90Y|MTMR10_uc010azx.1_Missense_Mutation_p.H261Y|MTMR10_uc001zfi.1_Missense_Mutation_p.H261Y|MTMR10_uc001zfj.2_Missense_Mutation_p.H427Y|MTMR10_uc001zfk.2_Missense_Mutation_p.H261Y	p.H509Y	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)	14	1623	-		all_lung(180;2.81e-11)	509			Myotubularin phosphatase.		Q6P4Q6	Missense_Mutation	SNP	ENST00000435680.1	37	c.1525C>T	CCDS45204.1	.	.	.	.	.	.	.	.	.	.	G	9.793	1.178327	0.21787	.	.	ENSG00000166912	ENST00000435680;ENST00000314404;ENST00000340566	D;D	0.92699	-3.09;-3.09	5.77	5.77	0.91146	Myotubularin phosphatase domain (1);	0.129378	0.64402	D	0.000004	D	0.91778	0.7399	L	0.34521	1.04	0.80722	D	1	B;D;P;P	0.58620	0.059;0.983;0.936;0.936	B;P;B;P	0.51453	0.04;0.67;0.295;0.469	D	0.91935	0.5558	10	0.54805	T	0.06	.	19.9983	0.97395	0.0:0.0:1.0:0.0	.	278;427;427;509	Q0IJ45;Q9NXD2-2;A6NGL9;Q9NXD2	.;.;.;MTMRA_HUMAN	Y	509;261;427	ENSP00000402537:H509Y;ENSP00000313788:H261Y	ENSP00000313788:H261Y	H	-	1	0	MTMR10	29026648	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	5.836000	0.69375	2.724000	0.93272	0.561000	0.74099	CAC		0.473	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1		NM_017762		31	109	0	0	0	1	0	31	109		
TRPM1	4308	broad.mit.edu	37	15	31360134	31360134	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:31360134G>A	ENST00000256552.6	-	5	588	c.441C>T	c.(439-441)atC>atT	p.I147I	TRPM1_ENST00000542188.1_Silent_p.I164I|TRPM1_ENST00000397795.2_Silent_p.I125I|MIR211_ENST00000384969.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TAGCAGCCTTGATCAGGCCTT	0.547																																						uc001zfm.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(373-375)ATC>ATT		transient receptor potential cation channel,							105.0	106.0	105.0					15																	31360134		1893	4119	6012	SO:0001819	synonymous_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31360134G>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.441C>T	15.37:g.31360134G>A						TRPM1_uc010azy.2_Silent_p.I38I|TRPM1_uc001zfl.2_RNA|uc010ubm.1_5'Flank|MIR211_hsa-mir-211|MI0000287_5'Flank|uc010ubn.1_5'Flank	p.I125I	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	4	503	-		all_lung(180;1.92e-11)	125			Extracellular (Potential).			Silent	SNP	ENST00000256552.6	37	c.375C>T	CCDS58346.1																																																																																				0.547	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2		NM_002420		38	131	0	0	0	1	0	38	131		
RYR3	6263	broad.mit.edu	37	15	34061318	34061318	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:34061318G>A	ENST00000389232.4	+	62	8831	c.8761G>A	c.(8761-8763)Gat>Aat	p.D2921N	RYR3_ENST00000415757.3_Missense_Mutation_p.D2921N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2921					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCCAGGTAGTGATTCTACTAC	0.438																																						uc001zhi.2		NaN																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(8761-8763)GAT>AAT		ryanodine receptor 3							143.0	143.0	143.0					15																	34061318		1913	4135	6048	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34061318G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8761G>A	15.37:g.34061318G>A	ENSP00000373884:p.Asp2921Asn					RYR3_uc010bar.2_Missense_Mutation_p.D2921N	p.D2921N	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	62	8831	+		all_lung(180;7.18e-09)	2921			Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.8761G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	31	5.066622	0.93898	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.97016	-4.2;-4.21	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.97123	0.9060	M	0.74647	2.275	0.80722	D	1	P;B	0.52316	0.952;0.365	P;B	0.50352	0.638;0.08	D	0.97134	0.9820	10	0.72032	D	0.01	.	20.2697	0.98465	0.0:0.0:1.0:0.0	.	2921;2921	Q15413-2;Q15413	.;RYR3_HUMAN	N	2921	ENSP00000373884:D2921N;ENSP00000399610:D2921N	ENSP00000354735:D2921N	D	+	1	0	RYR3	31848610	1.000000	0.71417	0.948000	0.38648	0.897000	0.52465	9.760000	0.98935	2.885000	0.99019	0.655000	0.94253	GAT		0.438	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1				24	67	0	0	0	1	0	24	67		
C15orf54	400360	broad.mit.edu	37	15	39544555	39544555	+	Missense_Mutation	SNP	G	G	C	rs551032226	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:39544555G>C	ENST00000318578.3	+	2	587	c.219G>C	c.(217-219)atG>atC	p.M73I	C15orf54_ENST00000561223.1_Missense_Mutation_p.M73I|RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	73										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		TGTCAGAAATGACTTTCAGGG	0.423																																						uc001zkg.2		NaN																	0					0						c.(217-219)ATG>ATC		hypothetical protein LOC400360							163.0	165.0	164.0					15																	39544555		2200	4297	6497	SO:0001583	missense	400360							g.chr15:39544555G>C		CCDS10049.1	15q14	2014-09-10			ENSG00000175746	ENSG00000175746			33797	protein-coding gene	gene with protein product							Standard	NM_207445		Approved	FLJ39531	uc001zkg.2	Q8N8G6	OTTHUMG00000129843	ENST00000318578.3:c.219G>C	15.37:g.39544555G>C	ENSP00000323686:p.Met73Ile						p.M73I	NM_207445	NP_997328	Q8N8G6	CO054_HUMAN		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)	2	587	+		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)	73					B7ZVZ9	Missense_Mutation	SNP	ENST00000318578.3	37	c.219G>C	CCDS10049.1	.	.	.	.	.	.	.	.	.	.	G	5.178	0.218422	0.09810	.	.	ENSG00000175746	ENST00000318578	T	0.33865	1.39	5.07	2.11	0.27256	.	.	.	.	.	T	0.18045	0.0433	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.18871	0.023	T	0.21449	-1.0245	9	0.87932	D	0	.	4.645	0.12568	0.1895:0.1834:0.6271:0.0	.	73	Q8N8G6	CO054_HUMAN	I	73	ENSP00000323686:M73I	ENSP00000323686:M73I	M	+	3	0	C15orf54	37331847	0.016000	0.18221	0.213000	0.23690	0.506000	0.33950	0.387000	0.20718	0.281000	0.22233	0.655000	0.94253	ATG		0.423	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252083.1		NM_207445		66	144	0	0	0	1	0	66	144		
DISP2	85455	broad.mit.edu	37	15	40655912	40655912	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:40655912C>T	ENST00000267889.3	+	2	293	c.206C>T	c.(205-207)tCt>tTt	p.S69F		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	69					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCTTCCAGCTCTTCAGGACCC	0.637																																						uc001zlk.1		NaN																	0				ovary(2)	2						c.(205-207)TCT>TTT		dispatched B							70.0	77.0	75.0					15																	40655912		2203	4300	6503	SO:0001583	missense	85455				smoothened signaling pathway	integral to membrane		g.chr15:40655912C>T	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.206C>T	15.37:g.40655912C>T	ENSP00000267889:p.Ser69Phe						p.S69F	NM_033510	NP_277045	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	2	295	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	69					Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	c.206C>T	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208684	0.58343	.	.	ENSG00000140323	ENST00000267889	T	0.13901	2.55	5.17	5.17	0.71159	.	0.257572	0.40064	N	0.001183	T	0.19604	0.0471	L	0.40543	1.245	0.09310	N	1	P	0.48503	0.911	P	0.50896	0.653	T	0.03969	-1.0988	10	0.46703	T	0.11	-8.6609	14.0344	0.64636	0.0:1.0:0.0:0.0	.	69	A7MBM2	DISP2_HUMAN	F	69	ENSP00000267889:S69F	ENSP00000267889:S69F	S	+	2	0	DISP2	38443204	0.315000	0.24571	0.015000	0.15790	0.690000	0.40134	2.375000	0.44283	2.688000	0.91661	0.563000	0.77884	TCT		0.637	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1		NM_033510		48	149	0	0	0	1	0	48	149		
UBR1	197131	broad.mit.edu	37	15	43294805	43294805	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:43294805G>A	ENST00000290650.4	-	32	3685	c.3607C>T	c.(3607-3609)Ctg>Ttg	p.L1203L	UBR1_ENST00000568782.1_5'Flank|UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1203					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L1203V(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GTATTGCACAGAGATTTGCAA	0.373																																						uc001zqq.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	lung(1)	1						c.(3607-3609)CTG>TTG		ubiquitin protein ligase E3 component n-recognin							71.0	68.0	69.0					15																	43294805		2203	4299	6502	SO:0001819	synonymous_variant	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43294805G>A		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.3607C>T	15.37:g.43294805G>A							p.L1203L	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	32	3673	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	1203					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Silent	SNP	ENST00000290650.4	37	c.3607C>T	CCDS10091.1																																																																																				0.373	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1		NM_174916		14	72	0	0	0	1	0	14	72		
DUT	1854	broad.mit.edu	37	15	48623792	48623792	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:48623792G>C	ENST00000331200.3	+	1	173	c.80G>C	c.(79-81)cGa>cCa	p.R27P	DUT_ENST00000559416.1_Intron|RP11-154J22.1_ENST00000559134.1_RNA|DUT_ENST00000455976.2_5'Flank|DUT_ENST00000559935.1_Intron|DUT_ENST00000559540.1_5'Flank|RP11-154J22.1_ENST00000560323.1_RNA|DUT_ENST00000558813.1_Intron	NM_001025248.1|NM_001025249.1	NP_001020419.1|NP_001020420.1	P33316	DUT_HUMAN	deoxyuridine triphosphatase	27					DNA replication (GO:0006260)|dUMP biosynthetic process (GO:0006226)|dUTP catabolic process (GO:0046081)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotrimerization (GO:0070207)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of protein heterodimerization activity (GO:0043497)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dUTP diphosphatase activity (GO:0004170)|poly(A) RNA binding (GO:0044822)|pyrimidine deoxyribonucleotide binding (GO:0032556)|receptor inhibitor activity (GO:0030547)			kidney(2)	2		all_lung(180;0.00265)		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)		CAAAACGCGCGAGGCGCACGG	0.701								Modulation of nucleotide pools																														uc001zws.2		NaN																	0					0						c.(79-81)CGA>CCA	Modulation_of_nucleotide_pools	deoxyuridine triphosphatase isoform 1 precursor							5.0	6.0	6.0					15																	48623792		1995	3943	5938	SO:0001583	missense	1854				DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process	mitochondrion|nucleoplasm	dUTP diphosphatase activity|protein binding	g.chr15:48623792G>C	M89913	CCDS32231.1, CCDS45255.1, CCDS45256.1	15q21.1	2010-06-24	2007-12-17		ENSG00000128951	ENSG00000128951	3.6.1.23		3078	protein-coding gene	gene with protein product		601266	"""dUTP pyrophosphatase"""			1325640, 9070952	Standard	XM_005254211		Approved	dUTPase	uc001zws.3	P33316		ENST00000331200.3:c.80G>C	15.37:g.48623792G>C	ENSP00000370376:p.Arg27Pro					DUT_uc001zwt.2_Intron|DUT_uc001zwu.2_RNA|DUT_uc001zwv.2_5'Flank|DUT_uc001zww.2_5'Flank|uc010ben.1_RNA	p.R27P	NM_001025248	NP_001020419	P33316	DUT_HUMAN		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)	1	172	+		all_lung(180;0.00265)	27					A8K650|B4DPR5|O14785|Q16708|Q16860|Q6FHN1|Q6NSA3|Q96Q81	Missense_Mutation	SNP	ENST00000331200.3	37	c.80G>C	CCDS32231.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.679524	0.29783	.	.	ENSG00000128951	ENST00000331200;ENST00000249783	T	0.54279	0.58	3.42	-4.07	0.03975	.	2.274330	0.02531	N	0.093613	T	0.35364	0.0929	N	0.19112	0.55	0.09310	N	0.999996	B	0.06786	0.001	B	0.04013	0.001	T	0.28681	-1.0036	10	0.62326	D	0.03	.	5.51	0.16876	0.0965:0.5549:0.2079:0.1407	.	27	P33316	DUT_HUMAN	P	27	ENSP00000370376:R27P	ENSP00000249783:R27P	R	+	2	0	DUT	46411084	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.299000	0.08254	-0.914000	0.03827	-1.289000	0.01358	CGA		0.701	DUT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417142.2				3	12	0	0	0	1	0	3	12		
USP8	9101	broad.mit.edu	37	15	50769684	50769684	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:50769684G>A	ENST00000396444.3	+	10	1544	c.1206G>A	c.(1204-1206)aaG>aaA	p.K402K	USP8_ENST00000433963.1_Silent_p.K402K|USP8_ENST00000425032.3_Silent_p.K325K|USP8_ENST00000307179.4_Silent_p.K402K	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	402					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CTAGTATAAAGAATGTTCCAC	0.373																																						uc001zym.3		NaN																	0				lung(1)|central_nervous_system(1)	2						c.(1204-1206)AAG>AAA		ubiquitin specific peptidase 8							89.0	91.0	91.0					15																	50769684		2196	4294	6490	SO:0001819	synonymous_variant	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50769684G>A	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.1206G>A	15.37:g.50769684G>A						USP8_uc001zyk.1_Silent_p.K103K|USP8_uc001zyl.3_Silent_p.K402K|USP8_uc001zyn.3_Silent_p.K402K|USP8_uc010ufh.1_Silent_p.K325K|USP8_uc010bev.1_Silent_p.K31K	p.K402K	NM_001128611	NP_001122083	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	11	1706	+			402					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	37	c.1206G>A	CCDS10137.1																																																																																				0.373	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1		NM_005154		20	81	0	0	0	1	0	20	81		
DMXL2	23312	broad.mit.edu	37	15	51783938	51783938	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:51783938G>C	ENST00000251076.5	-	20	5077	c.4790C>G	c.(4789-4791)tCt>tGt	p.S1597C	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.S961C|DMXL2_ENST00000543779.2_Missense_Mutation_p.S1597C	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1597						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATGGCATGTAGAGACACCTAA	0.363																																						uc002abf.2		NaN																	0				ovary(6)|skin(3)	9						c.(4789-4791)TCT>TGT		Dmx-like 2							69.0	76.0	74.0					15																	51783938		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51783938G>C	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.4790C>G	15.37:g.51783938G>C	ENSP00000251076:p.Ser1597Cys					DMXL2_uc010ufy.1_Missense_Mutation_p.S1597C|DMXL2_uc010bfa.2_Missense_Mutation_p.S961C	p.S1597C	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	20	5015	-			1597					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.4790C>G	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200597	0.58126	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.48836	0.8;0.8;0.8	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.74023	0.3662	M	0.86805	2.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.987;0.997;0.999	T	0.76252	-0.3027	10	0.46703	T	0.11	.	19.2792	0.94046	0.0:0.0:1.0:0.0	.	1597;961;1597	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	C	1597;1597;961	ENSP00000251076:S1597C;ENSP00000441858:S1597C;ENSP00000400855:S961C	ENSP00000251076:S1597C	S	-	2	0	DMXL2	49571230	1.000000	0.71417	0.994000	0.49952	0.137000	0.21094	9.386000	0.97228	2.632000	0.89209	0.655000	0.94253	TCT		0.363	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2		NM_015263		30	77	0	0	0	1	0	30	77		
GNB5	10681	broad.mit.edu	37	15	52416714	52416714	+	Missense_Mutation	SNP	C	C	T	rs372011977		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:52416714C>T	ENST00000261837.7	-	12	1197	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N	CTD-2184D3.6_ENST00000559825.1_lincRNA|GNB5_ENST00000358784.7_Missense_Mutation_p.D336N|GNB5_ENST00000396335.4_Missense_Mutation_p.D266N|GNB5_ENST00000559348.1_5'UTR|CTD-2184D3.7_ENST00000557898.1_RNA	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	378					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GCAGTCCCATCGGGGGAAACT	0.498																																						uc002abt.1		NaN																	0				lung(1)	1						c.(1132-1134)GAT>AAT		guanine nucleotide-binding protein, beta-5		C	ASN/ASP,ASN/ASP	1,4389	2.1+/-5.4	0,1,2194	99.0	100.0	99.0		1006,1132	6.0	0.9	15		99	0,8586		0,0,4293	no	missense,missense	GNB5	NM_006578.3,NM_016194.3	23,23	0,1,6487	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging,probably-damaging	336/354,378/396	52416714	1,12975	2195	4293	6488	SO:0001583	missense	10681					heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr15:52416714C>T	AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"""WD repeat domain containing"""	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.1132G>A	15.37:g.52416714C>T	ENSP00000261837:p.Asp378Asn					GNB5_uc002abr.1_Missense_Mutation_p.D336N|GNB5_uc002abs.1_Missense_Mutation_p.D266N	p.D378N	NM_016194	NP_057278	O14775	GBB5_HUMAN		all cancers(107;0.0163)	12	1197	-			378			WD 7.		B2RBR5|Q9HAU9|Q9UFT3	Missense_Mutation	SNP	ENST00000261837.7	37	c.1132G>A	CCDS10149.1	.	.	.	.	.	.	.	.	.	.	C	33	5.274904	0.95459	2.28E-4	0.0	ENSG00000069966	ENST00000261837;ENST00000396335;ENST00000544480;ENST00000358784	T	0.62498	0.02	5.98	5.98	0.97165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71804	0.3383	L	0.28344	0.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.72950	-0.4136	10	0.62326	D	0.03	-27.8709	20.5177	0.99214	0.0:1.0:0.0:0.0	.	378;266	O14775;O14775-3	GBB5_HUMAN;.	N	378;336;176;266	ENSP00000261837:D378N	ENSP00000261837:D378N	D	-	1	0	GNB5	50204006	1.000000	0.71417	0.899000	0.35326	0.597000	0.36814	7.647000	0.83462	2.853000	0.98044	0.644000	0.83932	GAT		0.498	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1				18	65	0	0	0	1	0	18	65		
MYO1E	4643	broad.mit.edu	37	15	59466040	59466040	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:59466040C>G	ENST00000288235.4	-	21	2638	c.2239G>C	c.(2239-2241)Ggg>Cgg	p.G747R	MIR2116_ENST00000517221.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	747	Myosin tail. {ECO:0000255}.				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)			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)		TCTTCCATCCCAATATAATCC	0.458																																						uc002aga.2		NaN																	0				central_nervous_system(3)	3						c.(2239-2241)GGG>CGG		myosin IE							225.0	230.0	229.0					15																	59466040		2191	4291	6482	SO:0001583	missense	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59466040C>G	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.2239G>C	15.37:g.59466040C>G	ENSP00000288235:p.Gly747Arg					MIR2116_hsa-mir-2116|MI0010635_5'Flank	p.G747R	NM_004998	NP_004989	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	21	2611	-			747					Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	c.2239G>C	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840091	0.91117	.	.	ENSG00000157483	ENST00000288235	T	0.37411	1.2	5.18	5.18	0.71444	Myosin tail 2 (1);	0.000000	0.85682	D	0.000000	T	0.67998	0.2953	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74575	-0.3620	10	0.87932	D	0	.	18.8797	0.92351	0.0:1.0:0.0:0.0	.	747	Q12965	MYO1E_HUMAN	R	747	ENSP00000288235:G747R	ENSP00000288235:G747R	G	-	1	0	MYO1E	57253332	1.000000	0.71417	0.995000	0.50966	0.958000	0.62258	7.631000	0.83237	2.680000	0.91292	0.655000	0.94253	GGG		0.458	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1		NM_004998		55	182	0	0	0	1	0	55	182		
GCNT3	9245	broad.mit.edu	37	15	59910809	59910809	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:59910809G>A	ENST00000396065.1	+	3	820	c.372G>A	c.(370-372)ctG>ctA	p.L124L	GCNT3_ENST00000560585.1_Silent_p.L124L	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	124					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGTTCCCACTGAGCAAAGAAG	0.473																																						uc002age.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(370-372)CTG>CTA		glucosaminyl (N-acetyl) transferase 3, mucin							83.0	88.0	86.0					15																	59910809		2190	4290	6480	SO:0001819	synonymous_variant	9245				protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr15:59910809G>A	AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.372G>A	15.37:g.59910809G>A						GCNT3_uc002agd.2_Silent_p.L124L	p.L124L	NM_004751	NP_004742	O95395	GCNT3_HUMAN			3	821	+			124			Lumenal (Potential).			Silent	SNP	ENST00000396065.1	37	c.372G>A	CCDS10172.1																																																																																				0.473	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256068.1		NM_004751		20	58	0	0	0	1	0	20	58		
GCNT3	9245	broad.mit.edu	37	15	59911184	59911184	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:59911184G>A	ENST00000396065.1	+	3	1195	c.747G>A	c.(745-747)agG>agA	p.R249R	GCNT3_ENST00000560585.1_Silent_p.R249R	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	249					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGAATGGGAGGAATAGCATGG	0.458																																						uc002age.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(745-747)AGG>AGA		glucosaminyl (N-acetyl) transferase 3, mucin							145.0	153.0	151.0					15																	59911184		2190	4290	6480	SO:0001819	synonymous_variant	9245				protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr15:59911184G>A	AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.747G>A	15.37:g.59911184G>A						GCNT3_uc002agd.2_Silent_p.R249R	p.R249R	NM_004751	NP_004742	O95395	GCNT3_HUMAN			3	1196	+			249			Lumenal (Potential).			Silent	SNP	ENST00000396065.1	37	c.747G>A	CCDS10172.1																																																																																				0.458	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256068.1		NM_004751		58	139	0	0	0	1	0	58	139		
RORA	6095	broad.mit.edu	37	15	60789729	60789729	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:60789729C>T	ENST00000335670.6	-	11	1597	c.1497G>A	c.(1495-1497)gtG>gtA	p.V499V	RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000449337.2_Silent_p.V444V|RORA_ENST00000261523.5_Silent_p.V532V|RORA_ENST00000309157.4_Silent_p.V524V|RP11-219B17.1_ENST00000558140.1_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	499	Ligand-binding.				angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						AATGAAGTCGCACAATGTCTG	0.378																																						uc002agv.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1594-1596)GTG>GTA		RAR-related orphan receptor A isoform b							161.0	137.0	145.0					15																	60789729		2203	4300	6503	SO:0001819	synonymous_variant	6095				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr15:60789729C>T	U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"""Nuclear hormone receptors"""	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.1497G>A	15.37:g.60789729C>T						uc002ags.1_Intron|RORA_uc002agt.3_Silent_p.V444V|RORA_uc002agw.2_Silent_p.V524V|RORA_uc002agx.2_Silent_p.V499V	p.V532V	NM_134260	NP_599022	P35398	RORA_HUMAN			12	1752	-			532			Ligand-binding.		P35397|P35399|P45445|Q495X4|Q96H83	Silent	SNP	ENST00000335670.6	37	c.1596G>A	CCDS10177.1																																																																																				0.378	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2				10	44	0	0	0	1	0	10	44		
HERC1	8925	broad.mit.edu	37	15	63916468	63916468	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:63916468G>T	ENST00000443617.2	-	72	13421	c.13334C>A	c.(13333-13335)cCt>cAt	p.P4445H		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4445					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGCTAACAAAGGCCGAAGTTG	0.453																																						uc002amp.2		NaN																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(13333-13335)CCT>CAT		hect domain and RCC1-like domain 1							145.0	133.0	137.0					15																	63916468		1897	4127	6024	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63916468G>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13334C>A	15.37:g.63916468G>T	ENSP00000390158:p.Pro4445His						p.P4445H	NM_003922	NP_003913	Q15751	HERC1_HUMAN			72	13482	-			4445					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.13334C>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732648	0.89482	.	.	ENSG00000103657	ENST00000443617	T	0.24908	1.83	5.3	5.3	0.74995	.	0.073871	0.53938	U	0.000056	T	0.27832	0.0685	L	0.43152	1.355	0.58432	D	0.999997	B	0.12630	0.006	B	0.12156	0.007	T	0.04607	-1.0939	10	0.66056	D	0.02	.	19.3238	0.94253	0.0:0.0:1.0:0.0	.	4445	Q15751	HERC1_HUMAN	H	4445	ENSP00000390158:P4445H	ENSP00000390158:P4445H	P	-	2	0	HERC1	61703521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.531000	0.67148	2.614000	0.88457	0.655000	0.94253	CCT		0.453	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1		NM_003922		31	75	1	0	5.60225e-13	1	5.88375e-13	31	75		
CILP	8483	broad.mit.edu	37	15	65497670	65497670	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:65497670C>T	ENST00000261883.4	-	5	725	c.559G>A	c.(559-561)Gag>Aag	p.E187K		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	187	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TCGCTGGCCTCACTGCACAGC	0.617																																						uc002aon.2		NaN																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(559-561)GAG>AAG		cartilage intermediate layer protein							108.0	87.0	94.0					15																	65497670		2201	4299	6500	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65497670C>T	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.559G>A	15.37:g.65497670C>T	ENSP00000261883:p.Glu187Lys						p.E187K	NM_003613	NP_003604	O75339	CILP1_HUMAN			5	740	-			187			TSP type-1.		B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.559G>A	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119701	0.77323	.	.	ENSG00000138615	ENST00000261883	T	0.54479	0.57	5.56	5.56	0.83823	.	0.052035	0.85682	D	0.000000	T	0.59293	0.2183	L	0.28400	0.85	0.50171	D	0.999855	D	0.54601	0.967	P	0.58130	0.833	T	0.60737	-0.7204	10	0.56958	D	0.05	-17.3216	18.5236	0.90963	0.0:1.0:0.0:0.0	.	187	O75339	CILP1_HUMAN	K	187	ENSP00000261883:E187K	ENSP00000261883:E187K	E	-	1	0	CILP	63284723	1.000000	0.71417	0.948000	0.38648	0.152000	0.21847	6.622000	0.74233	2.635000	0.89317	0.650000	0.86243	GAG		0.617	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1		NM_003613		33	97	0	0	0	1	0	33	97		
PTPLAD1	51495	broad.mit.edu	37	15	65847289	65847289	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:65847289G>A	ENST00000261875.5	+	3	361	c.195G>A	c.(193-195)gtG>gtA	p.V65V	PTPLAD1_ENST00000568793.1_Silent_p.V40V|PTPLAD1_ENST00000566074.1_5'UTR|PTPLAD1_ENST00000569894.1_5'UTR|PTPLAD1_ENST00000562901.1_5'UTR|PTPLAD1_ENST00000442729.2_Silent_p.V65V|PTPLAD1_ENST00000566511.1_5'UTR|PTPLAD1_ENST00000565299.1_Silent_p.V103V|RNU6-19P_ENST00000384718.1_RNA	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	65	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				activation of JUN kinase activity (GO:0007257)|fatty acid biosynthetic process (GO:0006633)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|positive regulation of GTPase activity (GO:0043547)|Rac protein signal transduction (GO:0016601)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)	GTPase activator activity (GO:0005096)|lyase activity (GO:0016829)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						TAGACCTTGTGAAACCAGAGG	0.413																																						uc002apc.2		NaN																	0					0						c.(193-195)GTG>GTA		protein tyrosine phosphatase-like A domain							229.0	214.0	219.0					15																	65847289		1847	4099	5946	SO:0001819	synonymous_variant	51495				activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding	g.chr15:65847289G>A		CCDS45282.1	15q22.2	2005-11-11				ENSG00000074696			24175	protein-coding gene	gene with protein product		615940				10747961, 11042152	Standard	NM_016395		Approved	B-ind1, HSPC121	uc002apc.3	Q9P035		ENST00000261875.5:c.195G>A	15.37:g.65847289G>A						PTPLAD1_uc002apb.1_RNA|PTPLAD1_uc010uiw.1_Silent_p.V65V	p.V65V	NM_016395	NP_057479	Q9P035	HACD3_HUMAN			3	343	+			65			CS.|Cytoplasmic (Potential).		A0PJA1|B4DRF4|Q280Z3|Q6PD63|Q8IUI5|Q8NC86|Q8NCB1|Q96T12|Q9NQA7	Silent	SNP	ENST00000261875.5	37	c.195G>A	CCDS45282.1																																																																																				0.413	PTPLAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419739.1		NM_016395		39	115	0	0	0	1	0	39	115		
CLN6	54982	broad.mit.edu	37	15	68503654	68503654	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:68503654G>A	ENST00000249806.5	-	5	646	c.489C>T	c.(487-489)atC>atT	p.I163I	CLN6_ENST00000538696.1_Silent_p.I195I|CLN6_ENST00000565471.1_Intron|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000564752.1_Missense_Mutation_p.S172L|CLN6_ENST00000566347.1_Silent_p.I100I|CLN6_ENST00000418702.2_Intron	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	163					cell death (GO:0008219)|cellular macromolecule catabolic process (GO:0044265)|cholesterol metabolic process (GO:0008203)|ganglioside metabolic process (GO:0001573)|glycosaminoglycan metabolic process (GO:0030203)|locomotion involved in locomotory behavior (GO:0031987)|lysosomal lumen acidification (GO:0007042)|positive regulation of proteolysis (GO:0045862)|protein catabolic process (GO:0030163)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CAAAGGAGTCGATCTGAGGGA	0.602																																						uc002arf.2		NaN																	0					0						c.(487-489)ATC>ATT		CLN6 protein							121.0	125.0	124.0					15																	68503654		2200	4298	6498	SO:0001819	synonymous_variant	54982				cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity	g.chr15:68503654G>A	AK000568	CCDS10227.1	15q23	2014-09-17			ENSG00000128973	ENSG00000128973			2077	protein-coding gene	gene with protein product		606725				9097964, 11727201	Standard	NM_017882		Approved	FLJ20561, HsT18960, nclf	uc002arf.3	Q9NWW5	OTTHUMG00000133286	ENST00000249806.5:c.489C>T	15.37:g.68503654G>A						CLN6_uc010ujy.1_Intron|CLN6_uc010ujz.1_Silent_p.I195I	p.I163I	NM_017882	NP_060352	Q9NWW5	CLN6_HUMAN			5	647	-			163					A8K560|B4DDH6|Q6IAB1|Q96SR0	Silent	SNP	ENST00000249806.5	37	c.489C>T	CCDS10227.1																																																																																				0.602	CLN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257066.1		NM_017882		28	99	0	0	0	1	0	28	99		
ITGA11	22801	broad.mit.edu	37	15	68609618	68609618	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:68609618G>A	ENST00000315757.7	-	21	2786	c.2700C>T	c.(2698-2700)ttC>ttT	p.F900F	ITGA11_ENST00000423218.2_Silent_p.F900F	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	900					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CCTTGGCCCGGAAGAAGGGAT	0.602																																						uc002ari.2		NaN																	0				kidney(2)|pancreas(1)	3						c.(2698-2700)TTC>TTT		integrin, alpha 11 precursor	Tirofiban(DB00775)						127.0	137.0	134.0					15																	68609618		2012	4163	6175	SO:0001819	synonymous_variant	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68609618G>A	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.2700C>T	15.37:g.68609618G>A						ITGA11_uc010bib.2_Silent_p.F900F	p.F900F	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN			21	2787	-			900			Extracellular (Potential).		J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	ENST00000315757.7	37	c.2700C>T	CCDS45291.1																																																																																				0.602	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			NM_012211		26	112	0	0	0	1	0	26	112		
PARP6	56965	broad.mit.edu	37	15	72558264	72558264	+	Missense_Mutation	SNP	G	G	C	rs535166589	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:72558264G>C	ENST00000569795.1	-	5	837	c.150C>G	c.(148-150)atC>atG	p.I50M	PARP6_ENST00000287196.9_Missense_Mutation_p.I50M|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Missense_Mutation_p.I50M			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	50							NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						TCTCACTGTAGATCTCCTTCA	0.498																																						uc002auc.2		NaN																	0					0						c.(148-150)ATC>ATG		poly (ADP-ribose) polymerase family, member 6							92.0	86.0	88.0					15																	72558264		1932	4161	6093	SO:0001583	missense	56965						NAD+ ADP-ribosyltransferase activity	g.chr15:72558264G>C	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.150C>G	15.37:g.72558264G>C	ENSP00000456348:p.Ile50Met					PARP6_uc002aua.2_Translation_Start_Site|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Missense_Mutation_p.I50M	p.I50M	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN			4	609	-			50					Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	ENST00000569795.1	37	c.150C>G	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958351	0.53400	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000336471	.	.	.	5.63	5.63	0.86233	.	0.146062	0.64402	D	0.000012	T	0.44685	0.1305	L	0.27053	0.805	0.38846	D	0.956163	B;B	0.32010	0.306;0.351	B;B	0.30029	0.107;0.11	T	0.47971	-0.9075	9	0.44086	T	0.13	-13.9316	13.6124	0.62088	0.0:0.0:0.845:0.1549	.	50;50	Q0VDG0;Q2NL67	.;PARP6_HUMAN	M	50	.	ENSP00000260376:I50M	I	-	3	3	PARP6	70345318	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.527000	0.60573	2.643000	0.89663	0.655000	0.94253	ATC		0.498	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2		NM_020214		15	56	0	0	0	1	0	15	56		
HCN4	10021	broad.mit.edu	37	15	73624577	73624577	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:73624577G>A	ENST00000261917.3	-	3	2259	c.1266C>T	c.(1264-1266)atC>atT	p.I422I		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	422					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GCATCATGCCGATGAGGTTCA	0.592																																						uc002avp.2		NaN																	0				ovary(5)|liver(1)	6						c.(1264-1266)ATC>ATT		hyperpolarization activated cyclic							108.0	86.0	93.0					15																	73624577		2198	4297	6495	SO:0001819	synonymous_variant	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73624577G>A	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1266C>T	15.37:g.73624577G>A							p.I422I	NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	3	2260	-			422			Helical; Name=Segment S5; (Potential).		Q9UMQ7	Silent	SNP	ENST00000261917.3	37	c.1266C>T	CCDS10248.1																																																																																				0.592	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2		NM_005477		16	74	0	0	0	1	0	16	74		
SIN3A	25942	broad.mit.edu	37	15	75715054	75715054	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:75715054C>G	ENST00000394947.3	-	3	614	c.300G>C	c.(298-300)caG>caC	p.Q100H	SIN3A_ENST00000567289.1_Missense_Mutation_p.Q100H|SIN3A_ENST00000394949.4_Missense_Mutation_p.Q100H|SIN3A_ENST00000360439.4_Missense_Mutation_p.Q100H	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GAGCATGACTCTGGACCACCT	0.562																																						uc002bai.2		NaN																	0				skin(3)|ovary(1)|lung(1)	5						c.(298-300)CAG>CAC		transcriptional co-repressor Sin3A							107.0	102.0	104.0					15																	75715054		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75715054C>G	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.300G>C	15.37:g.75715054C>G	ENSP00000378402:p.Gln100His					SIN3A_uc002baj.2_Missense_Mutation_p.Q100H|SIN3A_uc010uml.1_Missense_Mutation_p.Q100H|SIN3A_uc002bak.3_Missense_Mutation_p.Q100H	p.Q100H	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN			3	559	-			100						Missense_Mutation	SNP	ENST00000394947.3	37	c.300G>C	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047988	0.55110	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.49432	0.78;0.78;0.78	4.98	4.06	0.47325	.	0.277682	0.41823	D	0.000815	T	0.40743	0.1129	L	0.52573	1.65	0.45704	D	0.998617	B	0.19706	0.038	B	0.17722	0.019	T	0.22556	-1.0213	10	0.25106	T	0.35	-20.2686	12.2953	0.54842	0.0:0.9169:0.0:0.0831	.	100	Q96ST3	SIN3A_HUMAN	H	100	ENSP00000378402:Q100H;ENSP00000378403:Q100H;ENSP00000353622:Q100H	ENSP00000353622:Q100H	Q	-	3	2	SIN3A	73502107	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	0.672000	0.25187	1.323000	0.45263	0.467000	0.42956	CAG		0.562	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1		NM_015477		60	117	0	0	0	1	0	60	117		
PTPN9	5780	broad.mit.edu	37	15	75798209	75798209	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:75798209C>T	ENST00000306726.2	-	7	1287	c.775G>A	c.(775-777)Gat>Aat	p.D259N	PTPN9_ENST00000564970.1_5'Flank	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	259					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)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCGAAGGGATCTGGGTGGCCG	0.532																																						uc002bal.2		NaN																	0				lung(1)|skin(1)	2						c.(775-777)GAT>AAT		protein tyrosine phosphatase, non-receptor type							111.0	102.0	105.0					15																	75798209		2197	4294	6491	SO:0001583	missense	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75798209C>T		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.775G>A	15.37:g.75798209C>T	ENSP00000303554:p.Asp259Asn						p.D259N	NM_002833	NP_002824	P43378	PTN9_HUMAN			7	1283	-			259					Q53XR9	Missense_Mutation	SNP	ENST00000306726.2	37	c.775G>A	CCDS10280.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157413	0.78114	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	D	0.84370	-1.84	5.92	5.92	0.95590	Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90239	0.6948	L	0.55481	1.735	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.85946	0.1461	10	0.17832	T	0.49	.	19.3694	0.94479	0.0:1.0:0.0:0.0	.	259	P43378	PTN9_HUMAN	N	259;249	ENSP00000303554:D259N	ENSP00000303554:D259N	D	-	1	0	PTPN9	73585264	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.159000	0.77483	2.822000	0.97130	0.650000	0.86243	GAT		0.532	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1				18	54	0	0	0	1	0	18	54		
FBXO22	26263	broad.mit.edu	37	15	76196329	76196329	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:76196329G>A	ENST00000308275.3	+	1	130	c.25G>A	c.(25-27)Gag>Aag	p.E9K	FBXO22_ENST00000540507.1_5'UTR|FBXO22_ENST00000453211.2_Missense_Mutation_p.E9K|FBXO22_ENST00000565131.1_3'UTR	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	9				VGCCGECR -> AGACGGP (in Ref. 5; AAF04523). {ECO:0000305}.	cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CTGCTGCGGCGAGTGCCGCGG	0.677																																						uc002bbk.2		NaN																	0					0						c.(25-27)GAG>AAG		F-box only protein 22 isoform a							16.0	17.0	17.0					15																	76196329		2181	4269	6450	SO:0001583	missense	26263				ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity	g.chr15:76196329G>A	AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"""F-boxes /  ""other"""""	13593	protein-coding gene	gene with protein product	"""FIST domain containing 1"""	609096	"""F-box only protein 22"""			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.25G>A	15.37:g.76196329G>A	ENSP00000307833:p.Glu9Lys					FBXO22_uc002bbj.1_Missense_Mutation_p.E9K|FBXO22_uc002bbl.2_5'UTR	p.E9K	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN			1	130	+			9	VGCCGECR -> AGACGGP (in Ref. 5; AAF04523).				Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Missense_Mutation	SNP	ENST00000308275.3	37	c.25G>A	CCDS10287.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.685722	0.29962	.	.	ENSG00000167196	ENST00000308275;ENST00000453211	.	.	.	3.36	0.273	0.15650	.	1.328730	0.05200	N	0.504811	T	0.16300	0.0392	N	0.08118	0	0.20196	N	0.999927	B;B	0.17852	0.007;0.024	B;B	0.12156	0.003;0.007	T	0.18967	-1.0320	9	0.18276	T	0.48	0.3878	1.922	0.03309	0.1192:0.2026:0.4698:0.2084	.	9;9	Q8NEZ5;Q8NEZ5-3	FBX22_HUMAN;.	K	9	.	ENSP00000307833:E9K	E	+	1	0	FBXO22	73983384	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	0.020000	0.13466	0.061000	0.16311	0.563000	0.77884	GAG		0.677	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286477.2		NM_147188		5	7	0	0	0	1	0	5	7		
SCAPER	49855	broad.mit.edu	37	15	76994204	76994204	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:76994204G>A	ENST00000563290.1	-	20	2498	c.2403C>T	c.(2401-2403)atC>atT	p.I801I	SCAPER_ENST00000324767.7_Silent_p.I801I|SCAPER_ENST00000538941.2_Silent_p.I555I			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	801						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CCTCTGAAGAGATCTGAAAGC	0.378																																						uc002bby.2		NaN																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(2401-2403)ATC>ATT		S-phase cyclin A-associated protein in the ER							62.0	59.0	60.0					15																	76994204		1848	4087	5935	SO:0001819	synonymous_variant	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:76994204G>A	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2403C>T	15.37:g.76994204G>A						SCAPER_uc010bkr.2_Silent_p.I109I|SCAPER_uc002bbx.2_Silent_p.I555I|SCAPER_uc002bbz.1_Silent_p.I672I|SCAPER_uc002bca.1_Silent_p.I666I	p.I801I	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN			19	2462	-			800			C2H2-type.		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Silent	SNP	ENST00000563290.1	37	c.2403C>T	CCDS53962.1																																																																																				0.378	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1		NM_020843		8	31	0	0	0	1	0	8	31		
CRABP1	1381	broad.mit.edu	37	15	78635840	78635840	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:78635840G>A	ENST00000299529.6	+	3	354		c.e3-1			NM_004378.2	NP_004369.1	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1						multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoic acid binding (GO:0001972)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			breast(1)|lung(4)|skin(1)	6					Alitretinoin(DB00523)|Tretinoin(DB00755)	CCCGCCTGCAGAGTTTAGCCA	0.493																																					Ovarian(146;578 3231 38536)	uc002bdp.2		NaN																	0					0						c.e3-1		cellular retinoic acid binding protein 1	Alitretinoin(DB00523)|Etretinate(DB00926)						68.0	56.0	60.0					15																	78635840		2196	4293	6489	SO:0001630	splice_region_variant	1381				multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity	g.chr15:78635840G>A		CCDS10301.1	15q24	2013-03-01	2001-11-28		ENSG00000166426	ENSG00000166426		"""Fatty acid binding protein family"""	2338	protein-coding gene	gene with protein product		180230	"""cellular retinoic acid-binding protein 1"""	RBP5		9154115	Standard	NM_004378		Approved	CRABP, CRABP-I, CRABPI	uc002bdp.2	P29762	OTTHUMG00000143862	ENST00000299529.6:c.250-1G>A	15.37:g.78635840G>A							p.S84_splice	NM_004378	NP_004369	P29762	RABP1_HUMAN			3	355	+								Q6IAY7|Q8WTV5	Splice_Site	SNP	ENST00000299529.6	37	c.250_splice	CCDS10301.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092994	0.76756	.	.	ENSG00000166426	ENST00000299529;ENST00000406419	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9359	0.89012	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CRABP1	76422895	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	9.264000	0.95635	2.472000	0.83506	0.563000	0.77884	.		0.493	CRABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290110.2		NM_004378	Intron	8	46	0	0	0	1	0	8	46		
CEMIP	57214	broad.mit.edu	37	15	81199101	81199101	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:81199101G>A	ENST00000394685.3	+	13	1928	c.1509G>A	c.(1507-1509)gaG>gaA	p.E503E	KIAA1199_ENST00000356249.5_Silent_p.E503E|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Silent_p.E503E|RP11-351M8.1_ENST00000560560.1_Intron			Q8WUJ3	CEMIP_HUMAN		503	Necessary for its endoplasmic reticulum (ER) retention and interaction with HSPA5.				hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGATGGGGGAGATGGAGGACA	0.527																																						uc002bfw.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1507-1509)GAG>GAA		KIAA1199 precursor							152.0	133.0	139.0					15																	81199101		2203	4300	6503	SO:0001819	synonymous_variant	57214							g.chr15:81199101G>A																												ENST00000394685.3:c.1509G>A	15.37:g.81199101G>A						KIAA1199_uc010unn.1_Silent_p.E503E	p.E503E	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN			12	1769	+			503					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Silent	SNP	ENST00000394685.3	37	c.1509G>A	CCDS10315.1																																																																																				0.527	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1				19	62	0	0	0	1	0	19	62		
TMC3	342125	broad.mit.edu	37	15	81660670	81660670	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:81660670C>T	ENST00000359440.5	-	3	372		c.e3-1		TMC3_ENST00000558726.1_Splice_Site	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CTTCGCTTGTCTAAGAGAAGA	0.438																																						uc002bgo.1		NaN																	0				ovary(1)|liver(1)	2						c.e3-1		transmembrane channel-like 3							150.0	147.0	148.0					15																	81660670		1949	4153	6102	SO:0001630	splice_region_variant	342125					integral to membrane		g.chr15:81660670C>T	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.237-1G>A	15.37:g.81660670C>T						TMC3_uc010blr.1_Splice_Site|TMC3_uc002bgp.2_Splice_Site_p.R79_splice	p.R79_splice	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN			3	237	-									Splice_Site	SNP	ENST00000359440.5	37	c.237_splice	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055045	0.36277	.	.	ENSG00000188869	ENST00000359440	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7319	0.96186	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMC3	79447725	1.000000	0.71417	0.927000	0.36925	0.046000	0.14306	6.588000	0.74076	2.668000	0.90789	0.655000	0.94253	.		0.438	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3		NM_181841	Intron	58	195	0	0	0	1	0	58	195		
ACAN	176	broad.mit.edu	37	15	89400090	89400090	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:89400090G>C	ENST00000561243.1	+	11	4274	c.4274G>C	c.(4273-4275)gGa>gCa	p.G1425A	ACAN_ENST00000559004.1_Missense_Mutation_p.G1425A|ACAN_ENST00000352105.7_Missense_Mutation_p.G1425A|ACAN_ENST00000439576.2_Missense_Mutation_p.G1425A			P16112	PGCA_HUMAN	aggrecan	1426	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ACTGCCCCTGGAGTAGATGAG	0.532																																						uc010upo.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(4273-4275)GGA>GCA		aggrecan isoform 2 precursor							141.0	144.0	143.0					15																	89400090		1847	4082	5929	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89400090G>C	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.4274G>C	15.37:g.89400090G>C	ENSP00000453342:p.Gly1425Ala					ACAN_uc010upp.1_Missense_Mutation_p.G1425A|ACAN_uc002bna.2_RNA	p.G1425A	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	4648	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1425					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.4274G>C	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	-	16.72	3.202728	0.58234	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.98777	-5.13;-5.13	3.28	2.33	0.28932	.	0.000000	0.31963	N	0.006795	D	0.98852	0.9612	M	0.85859	2.78	0.21579	N	0.999636	D;D	0.89917	0.999;1.0	D;D	0.83275	0.98;0.996	D	0.95295	0.8398	10	0.46703	T	0.11	.	9.0994	0.36658	0.1169:0.0:0.8831:0.0	.	1425;1425	E7ENV9;E7EX88	.;.	A	1425;1425;1311	ENSP00000387356:G1425A;ENSP00000341615:G1425A	ENSP00000268134:G1311A	G	+	2	0	ACAN	87201094	.	.	0.698000	0.30274	0.372000	0.29890	.	.	0.910000	0.36722	0.491000	0.48974	GGA		0.532	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2		NM_001135		73	202	0	0	0	1	0	73	202		
ACAN	176	broad.mit.edu	37	15	89417171	89417171	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:89417171G>C	ENST00000561243.1	+	16	7432	c.7432G>C	c.(7432-7434)Gag>Cag	p.E2478Q	ACAN_ENST00000559004.1_Missense_Mutation_p.E2440Q|ACAN_ENST00000352105.7_Intron|ACAN_ENST00000439576.2_Missense_Mutation_p.E2478Q			P16112	PGCA_HUMAN	aggrecan	2363					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCAGTGCACAGAGGGGTTTGT	0.642																																						uc010upo.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(7432-7434)GAG>CAG		aggrecan isoform 2 precursor							47.0	57.0	53.0					15																	89417171		2134	4229	6363	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89417171G>C	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.7432G>C	15.37:g.89417171G>C	ENSP00000453342:p.Glu2478Gln					ACAN_uc010upp.1_Intron|ACAN_uc002bna.2_RNA	p.E2478Q	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		17	7806	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2478					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.7432G>C	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	9.989	1.230158	0.22542	.	.	ENSG00000157766	ENST00000439576;ENST00000268134	T	0.67171	-0.25	5.31	2.3	0.28687	.	0.000000	0.33057	N	0.005326	T	0.76955	0.4060	M	0.67700	2.07	0.09310	N	0.999998	D	0.69078	0.997	D	0.75484	0.986	T	0.67662	-0.5613	10	0.54805	T	0.06	-5.4658	10.6003	0.45362	0.0784:0.5339:0.3876:0.0	.	2478	E7EX88	.	Q	2478;2364	ENSP00000387356:E2478Q	ENSP00000268134:E2364Q	E	+	1	0	ACAN	87218175	0.000000	0.05858	0.123000	0.21794	0.008000	0.06430	0.475000	0.22164	0.202000	0.20498	-0.142000	0.14014	GAG		0.642	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2		NM_001135		8	39	0	0	0	1	0	8	39		
ACAN	176	broad.mit.edu	37	15	89417256	89417256	+	Splice_Site	SNP	G	G	T	rs553161065		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:89417256G>T	ENST00000561243.1	+	16	7516		c.e16+1		ACAN_ENST00000559004.1_Splice_Site|ACAN_ENST00000352105.7_Intron|ACAN_ENST00000439576.2_Splice_Site			P16112	PGCA_HUMAN	aggrecan						carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGCACAGACCGTGAGCATCAC	0.657																																						uc010upo.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.e17+1		aggrecan isoform 2 precursor							34.0	43.0	40.0					15																	89417256		2167	4259	6426	SO:0001630	splice_region_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89417256G>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.7516+1G>T	15.37:g.89417256G>T						ACAN_uc010upp.1_Intron|ACAN_uc002bna.2_Splice_Site	p.P2506_splice	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		17	7890	+	Lung NSC(78;0.0392)|all_lung(78;0.077)							Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Splice_Site	SNP	ENST00000561243.1	37	c.7516_splice	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215881	0.39201	.	.	ENSG00000157766	ENST00000439576;ENST00000268134	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6554	0.88176	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACAN	87218260	1.000000	0.71417	1.000000	0.80357	0.108000	0.19459	9.504000	0.97986	2.407000	0.81776	0.655000	0.94253	.		0.657	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2		NM_001135	Intron	15	36	1	0	3.27435e-08	1	3.40091e-08	15	36		
CHD2	1106	broad.mit.edu	37	15	93527668	93527668	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:93527668G>C	ENST00000394196.4	+	25	4243	c.3175G>C	c.(3175-3177)Gag>Cag	p.E1059Q	CHD2_ENST00000557381.1_Missense_Mutation_p.E1059Q	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1059	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AGAGGAGGAAGAGCGGCAGAA	0.408																																						uc002bsp.2		NaN																	0				ovary(1)|skin(1)	2						c.(3175-3177)GAG>CAG		chromodomain helicase DNA binding protein 2							76.0	78.0	77.0					15																	93527668		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93527668G>C	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3175G>C	15.37:g.93527668G>C	ENSP00000377747:p.Glu1059Gln					CHD2_uc002bso.1_Missense_Mutation_p.E1059Q	p.E1059Q	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		25	3750	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1059			Glu-rich.		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.3175G>C	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963238	0.53507	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.02552	4.25;4.25	4.71	4.71	0.59529	.	0.000000	0.34435	U	0.003964	T	0.05227	0.0139	L	0.41236	1.265	0.80722	D	1	B;P	0.41131	0.01;0.739	B;B	0.42738	0.009;0.396	T	0.44236	-0.9341	10	0.59425	D	0.04	-27.152	17.85	0.88744	0.0:0.0:1.0:0.0	.	1059;1059	O14647;O14647-2	CHD2_HUMAN;.	Q	1059	ENSP00000377747:E1059Q;ENSP00000451366:E1059Q	ENSP00000377747:E1059Q	E	+	1	0	CHD2	91328672	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.496000	0.66918	2.448000	0.82819	0.591000	0.81541	GAG		0.408	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3		NM_001271		4	26	0	0	0	1	0	4	26		
CEMP1	752014	broad.mit.edu	37	16	2581056	2581056	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:2581056C>T	ENST00000567119.1	-	1	353	c.19G>A	c.(19-21)Gac>Aac	p.D7N	CEMP1_ENST00000382350.1_Missense_Mutation_p.D7N|AMDHD2_ENST00000565570.1_3'UTR|MIR3178_ENST00000581887.1_RNA|AMDHD2_ENST00000302956.4_3'UTR|CEMP1_ENST00000565480.1_Missense_Mutation_p.D7N	NM_001048212.3	NP_001041677.1	Q6PRD7	CEMP1_HUMAN	cementum protein 1	7						cytoplasm (GO:0005737)				lung(1)|skin(1)	2						TGCTGGCTGTCAGTGCTTGAT	0.617																																						uc002cqr.2		NaN																	0				skin(1)	1						c.(19-21)GAC>AAC		cementum protein 1							33.0	36.0	35.0					16																	2581056		2115	4232	6347	SO:0001583	missense	752014					cytoplasm		g.chr16:2581056C>T	AY584596	CCDS42108.1	16p13.3	2006-09-22							32553	protein-coding gene	gene with protein product	"""cementum protein-23"""	611113				16263347	Standard	NM_001048212		Approved	CP-23	uc002cqr.3	Q6PRD7		ENST00000567119.1:c.19G>A	16.37:g.2581056C>T	ENSP00000457380:p.Asp7Asn						p.D7N	NM_001048212	NP_001041677	Q6PRD7	CEMP1_HUMAN			1	375	-			7					B2RUY1	Missense_Mutation	SNP	ENST00000567119.1	37	c.19G>A	CCDS42108.1	.	.	.	.	.	.	.	.	.	.	C	2.891	-0.229743	0.06022	.	.	ENSG00000205923	ENST00000382350	T	0.56275	0.47	0.87	-1.74	0.08056	.	.	.	.	.	T	0.22820	0.0551	N	0.08118	0	0.09310	N	1	P	0.42078	0.77	B	0.30251	0.113	T	0.11299	-1.0593	9	0.87932	D	0	.	5.5235	0.16945	0.3873:0.6127:0.0:0.0	.	7	Q6PRD7	CEMP1_HUMAN	N	7	ENSP00000371787:D7N	ENSP00000371787:D7N	D	-	1	0	CEMP1	2521057	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.825000	0.04433	-0.946000	0.03677	-0.704000	0.03662	GAC		0.617	CEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435686.1		NM_001048212		16	73	0	0	0	1	0	16	73		
CLDN6	9074	broad.mit.edu	37	16	3065463	3065463	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:3065463G>T	ENST00000396925.1	-	3	988	c.560C>A	c.(559-561)tCg>tAg	p.S187*	TNFRSF12A_ENST00000573001.1_5'Flank|CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Nonsense_Mutation_p.S187*			P56747	CLD6_HUMAN	claudin 6	187					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GGACCCCCCCGAGGGGCAAGT	0.652																																						uc002csu.3		NaN																	0					0						c.(559-561)TCG>TAG		claudin 6							24.0	29.0	27.0					16																	3065463		2198	4299	6497	SO:0001587	stop_gained	9074				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3065463G>T	AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"""Claudins"""	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.560C>A	16.37:g.3065463G>T	ENSP00000380131:p.Ser187*						p.S187*	NM_021195	NP_067018	P56747	CLD6_HUMAN			2	620	-			187			Cytoplasmic (Potential).		B3KQP9|D3DUA5	Nonsense_Mutation	SNP	ENST00000396925.1	37	c.560C>A	CCDS10488.1	.	.	.	.	.	.	.	.	.	.	G	9.484	1.098951	0.20552	.	.	ENSG00000184697	ENST00000396925;ENST00000328796	.	.	.	4.77	1.56	0.23342	.	0.209849	0.42294	D	0.000736	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	4.1402	0.10189	0.1861:0.0:0.5568:0.2571	.	.	.	.	X	187	.	ENSP00000328674:S187X	S	-	2	0	CLDN6	3005464	0.931000	0.31567	0.790000	0.31976	0.128000	0.20619	1.720000	0.38022	0.744000	0.32741	-1.020000	0.02445	TCG		0.652	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250988.1		NM_021195		16	53	1	0	1.37285e-15	1	1.44903e-15	16	53		
ZSCAN10	84891	broad.mit.edu	37	16	3139503	3139503	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:3139503G>A	ENST00000252463.2	-	5	1854	c.1767C>T	c.(1765-1767)agC>agT	p.S589S	RP11-473M20.9_ENST00000571404.1_lincRNA|ZSCAN10_ENST00000538082.2_Silent_p.S507S|ZSCAN10_ENST00000575108.1_Silent_p.S250S	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	589					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GGGCGCTCTGGCTGAAGCCCT	0.697																																						uc002ctv.1		NaN																	0				ovary(1)	1						c.(1765-1767)AGC>AGT		zinc finger and SCAN domain containing 10							17.0	18.0	18.0					16																	3139503		2192	4293	6485	SO:0001819	synonymous_variant	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3139503G>A	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1767C>T	16.37:g.3139503G>A						ZSCAN10_uc002cty.1_Silent_p.S250S|ZSCAN10_uc002ctw.1_Silent_p.S507S|ZSCAN10_uc002ctx.1_Silent_p.S517S	p.S589S	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN			5	1855	-			589			C2H2-type 10.		B3KQD3|H0YFS6|Q1WWM2	Silent	SNP	ENST00000252463.2	37	c.1767C>T	CCDS10493.1																																																																																				0.697	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2		NM_032805		10	43	0	0	0	1	0	10	43		
C16orf90	646174	broad.mit.edu	37	16	3543964	3543964	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:3543964C>G	ENST00000437192.3	-	3	426	c.424G>C	c.(424-426)Gac>Cac	p.D142H	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	132										large_intestine(1)	1						GCACCCTTGTCTGGGTCCATG	0.632																																						uc002cvi.2		NaN																	0					0						c.(424-426)GAC>CAC		hypothetical protein LOC646174							22.0	23.0	23.0					16																	3543964		1897	4114	6011	SO:0001583	missense	646174							g.chr16:3543964C>G		CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131			34455	protein-coding gene	gene with protein product							Standard	NM_001080524		Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627	ENST00000437192.3:c.424G>C	16.37:g.3543964C>G	ENSP00000401335:p.Asp142His						p.D142H	NM_001080524	NP_001073993	A8MZG2	CP090_HUMAN			3	424	-			132						Missense_Mutation	SNP	ENST00000437192.3	37	c.424G>C	CCDS45397.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.18|16.18	3.050947|3.050947	0.55218|0.55218	.|.	.|.	ENSG00000215131|ENSG00000215131	ENST00000437192|ENST00000399645	.|.	.|.	.|.	5.55|5.55	-0.576|-0.576	0.11731|0.11731	.|.	2.578460|.	0.03085|.	U|.	0.158943|.	T|T	0.14787|0.14787	0.0357|0.0357	N|N	0.08118|0.08118	0|0	0.23546|0.23546	N|N	0.997448|0.997448	B|.	0.24533|.	0.105|.	B|.	0.16722|.	0.016|.	T|T	0.27191|0.27191	-1.0081|-1.0081	9|5	0.51188|.	T|.	0.08|.	-15.2713|-15.2713	4.1423|4.1423	0.10200|0.10200	0.0:0.3856:0.1749:0.4395|0.0:0.3856:0.1749:0.4395	.|.	142|.	A8MZG2-2|.	.|.	H|T	142|150	.|.	ENSP00000401335:D142H|.	D|R	-|-	1|2	0|0	C16orf90|C16orf90	3483965|3483965	0.964000|0.964000	0.33143|0.33143	0.996000|0.996000	0.52242|0.52242	0.951000|0.951000	0.60555|0.60555	0.082000|0.082000	0.14847|0.14847	0.038000|0.038000	0.15604|0.15604	-0.136000|-0.136000	0.14681|0.14681	GAC|AGA		0.632	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346319.2		NM_001080524		11	17	0	0	0	1	0	11	17		
MGRN1	23295	broad.mit.edu	37	16	4674988	4674988	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:4674988C>G	ENST00000399577.5	+	1	120	c.27C>G	c.(25-27)atC>atG	p.I9M	MGRN1_ENST00000262370.7_Missense_Mutation_p.I9M|MGRN1_ENST00000588994.1_Missense_Mutation_p.I9M|MGRN1_ENST00000586183.1_Missense_Mutation_p.I9M|MGRN1_ENST00000415496.1_Missense_Mutation_p.I9M	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	9					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						GCCGCCGCATCGCGGGGGTGG	0.736																																						uc002cwz.2		NaN																	0				ovary(1)|skin(1)	2						c.(25-27)ATC>ATG		mahogunin, ring finger 1 isoform 3							14.0	19.0	17.0					16																	4674988		1942	4117	6059	SO:0001583	missense	23295				endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:4674988C>G	AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.27C>G	16.37:g.4674988C>G	ENSP00000382487:p.Ile9Met					MGRN1_uc002cxa.2_Missense_Mutation_p.I9M|MGRN1_uc010btx.2_Missense_Mutation_p.I9M|MGRN1_uc010btw.2_Missense_Mutation_p.I9M|MGRN1_uc002cxb.2_Missense_Mutation_p.I9M|MGRN1_uc010uxo.1_Missense_Mutation_p.I9M|MGRN1_uc010uxp.1_Missense_Mutation_p.I9M|MGRN1_uc010uxq.1_RNA	p.I9M	NM_001142290	NP_001135762	O60291	MGRN1_HUMAN			1	163	+			9					A4URL3|A4URL4|Q86W76	Missense_Mutation	SNP	ENST00000399577.5	37	c.27C>G	CCDS45402.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000017	0.74818	.	.	ENSG00000102858	ENST00000262370;ENST00000399577;ENST00000415496;ENST00000536343	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	3.97	0.573	0.17363	.	0.000000	0.85682	D	0.000000	T	0.39253	0.1071	L	0.47716	1.5	0.50039	D	0.999848	D;D;D;D;D;D	0.89917	1.0;0.999;0.977;0.998;0.999;1.0	D;D;P;D;D;D	0.91635	0.999;0.98;0.772;0.956;0.974;0.999	T	0.12066	-1.0562	10	0.34782	T	0.22	-18.137	5.4289	0.16442	0.0:0.6276:0.1606:0.2118	.	9;9;9;9;9;9	O60291-4;O60291-3;B4DR12;E9PB19;O60291-2;O60291	.;.;.;.;.;MGRN1_HUMAN	M	9	ENSP00000262370:I9M;ENSP00000382487:I9M;ENSP00000393311:I9M;ENSP00000443810:I9M	ENSP00000262370:I9M	I	+	3	3	MGRN1	4614989	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	1.459000	0.35234	-0.039000	0.13602	-0.339000	0.08088	ATC		0.736	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2				3	14	0	0	0	1	0	3	14		
PPL	5493	broad.mit.edu	37	16	4945714	4945714	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	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		38	97	0	0	0	1	0	38	97		
USP7	7874	broad.mit.edu	37	16	8997182	8997182	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:8997182G>C	ENST00000344836.4	-	16	1980	c.1782C>G	c.(1780-1782)ttC>ttG	p.F594L	USP7_ENST00000381886.4_Missense_Mutation_p.F578L|USP7_ENST00000535863.1_Missense_Mutation_p.F495L	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	594					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCAATACTTTGAACACAGTGT	0.473																																						uc002czl.2		NaN																	0				ovary(3)	3						c.(1780-1782)TTC>TTG		ubiquitin specific peptidase 7							154.0	124.0	134.0					16																	8997182		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8997182G>C	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1782C>G	16.37:g.8997182G>C	ENSP00000343535:p.Phe594Leu					USP7_uc010uyk.1_Missense_Mutation_p.F495L|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.F495L|USP7_uc002czk.2_Missense_Mutation_p.F578L|USP7_uc010uyl.1_RNA	p.F594L	NM_003470	NP_003461	Q93009	UBP7_HUMAN			16	1981	-			594					A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.1782C>G	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.489475	0.44249	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549	T;T	0.06687	3.27;3.28	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.09247	0.0228	L	0.47716	1.5	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.14643	-1.0465	10	0.08381	T	0.77	.	17.2451	0.87026	0.0:0.0:1.0:0.0	.	594;578	Q93009;B7Z815	UBP7_HUMAN;.	L	594;602;495;495	ENSP00000343535:F594L;ENSP00000443646:F495L	ENSP00000343535:F594L	F	-	3	2	USP7	8904683	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	6.712000	0.74681	2.500000	0.84329	0.455000	0.32223	TTC		0.473	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2				14	57	0	0	0	1	0	14	57		
RRN3	54700	broad.mit.edu	37	16	15157071	15157071	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:15157071G>C	ENST00000198767.6	-	17	1859	c.1776C>G	c.(1774-1776)ttC>ttG	p.F592L	RRN3_ENST00000563559.1_Missense_Mutation_p.F592L|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000540462.1_Missense_Mutation_p.F410L|RRN3_ENST00000327307.7_Missense_Mutation_p.F559L|RRN3_ENST00000429751.2_Missense_Mutation_p.F562L	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	592	Interaction with EIF3L.|Interaction with TWISTNB.				cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						TGGGTTTCTTGAACTCCTGTA	0.418																																						uc002dde.2		NaN																	0				ovary(1)	1						c.(1774-1776)TTC>TTG		RRN3 RNA polymerase I transcription factor							105.0	91.0	96.0					16																	15157071		2197	4300	6497	SO:0001583	missense	54700				regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm		g.chr16:15157071G>C	AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"""RRN3 RNA polymerase I transcription factor homolog (yeast)"""			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.1776C>G	16.37:g.15157071G>C	ENSP00000198767:p.Phe592Leu					PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzp.1_Missense_Mutation_p.F460L|RRN3_uc010uzq.1_Missense_Mutation_p.F562L	p.F592L	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN			17	1844	-			592			Interaction with EIF3L.|Interaction with TWISTNB.		A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Missense_Mutation	SNP	ENST00000198767.6	37	c.1776C>G	CCDS10559.1	.	.	.	.	.	.	.	.	.	.	G	0.392	-0.922932	0.02377	.	.	ENSG00000085721	ENST00000198767;ENST00000429751;ENST00000327307;ENST00000540462	T;T;T;T	0.40756	1.02;1.03;1.03;1.04	5.56	0.216	0.15258	.	0.686315	0.13741	N	0.365944	T	0.23210	0.0561	N	0.25647	0.755	0.27645	N	0.947605	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.30822	-0.9965	10	0.09084	T	0.74	.	7.4691	0.27338	0.3115:0.5133:0.1751:0.0	.	562;493;592	F5H148;B4DZL9;Q9NYV6	.;.;RRN3_HUMAN	L	592;562;559;410	ENSP00000198767:F592L;ENSP00000402027:F562L;ENSP00000318484:F559L;ENSP00000437963:F410L	ENSP00000198767:F592L	F	-	3	2	RRN3	15064572	0.001000	0.12720	0.953000	0.39169	0.553000	0.35397	-0.393000	0.07305	-0.159000	0.11021	-0.345000	0.07892	TTC		0.418	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252087.2		NM_018427		33	115	0	0	0	1	0	33	115		
KIAA0430	9665	broad.mit.edu	37	16	15718642	15718642	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:15718642G>A	ENST00000396368.3	-	10	2460	c.2254C>T	c.(2254-2256)Cag>Tag	p.Q752*	KIAA0430_ENST00000540441.2_Nonsense_Mutation_p.Q609*|KIAA0430_ENST00000548025.1_Nonsense_Mutation_p.Q749*|KIAA0430_ENST00000602337.1_Nonsense_Mutation_p.Q749*|KIAA0430_ENST00000344181.3_Nonsense_Mutation_p.Q430*|KIAA0430_ENST00000551742.1_Nonsense_Mutation_p.Q751*	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	752					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GACCAAGACTGAGATGCGAGC	0.423																																						uc002ddr.2		NaN																	0					0						c.(2254-2256)CAG>TAG		limkain b1							115.0	121.0	119.0					16																	15718642		1967	4163	6130	SO:0001587	stop_gained	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15718642G>A	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.2254C>T	16.37:g.15718642G>A	ENSP00000379654:p.Gln752*					KIAA0430_uc002ddq.2_Nonsense_Mutation_p.Q608*|KIAA0430_uc010uzv.1_Nonsense_Mutation_p.Q748*|KIAA0430_uc010uzw.1_Nonsense_Mutation_p.Q750*	p.Q752*	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN			10	2447	-			751					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Nonsense_Mutation	SNP	ENST00000396368.3	37	c.2254C>T	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	G	39	7.896317	0.98548	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	6.08	6.08	0.98989	.	0.246989	0.41396	D	0.000882	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	.	.	.	X	752;609;751;430;749;751;608	.	ENSP00000315718:Q751X	Q	-	1	0	KIAA0430	15626143	1.000000	0.71417	0.771000	0.31576	0.800000	0.45204	7.917000	0.87498	2.894000	0.99253	0.591000	0.81541	CAG		0.423	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2		NM_014647		28	97	0	0	0	1	0	28	97		
MYH11	4629	broad.mit.edu	37	16	15835629	15835629	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:15835629C>T	ENST00000300036.5	-	21	2749	c.2640G>A	c.(2638-2640)caG>caA	p.Q880Q	AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000396324.3_Silent_p.Q887Q|MYH11_ENST00000576790.2_Silent_p.Q880Q|MYH11_ENST00000452625.2_Silent_p.Q887Q	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	880					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCGAGTGCTTCTGTTCCAGCT	0.612			T	CBFB	AML																																	uc002ddy.2		NaN		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(2638-2640)CAG>CAA		smooth muscle myosin heavy chain 11 isoform							294.0	219.0	244.0					16																	15835629		2197	4300	6497	SO:0001819	synonymous_variant	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15835629C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2640G>A	16.37:g.15835629C>T						MYH11_uc002ddv.2_Silent_p.Q887Q|MYH11_uc002ddw.2_Silent_p.Q880Q|MYH11_uc002ddx.2_Silent_p.Q887Q|MYH11_uc010bvg.2_Silent_p.Q712Q	p.Q880Q	NM_002474	NP_002465	P35749	MYH11_HUMAN			21	2747	-			880			Potential.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	c.2640G>A	CCDS10565.1																																																																																				0.612	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2		NM_001040113		86	245	0	0	0	1	0	86	245		
ABCC1	4363	broad.mit.edu	37	16	16184358	16184358	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:16184358C>T	ENST00000399410.3	+	19	2732	c.2557C>T	c.(2557-2559)Cag>Tag	p.Q853*	ABCC1_ENST00000345148.5_Nonsense_Mutation_p.Q853*|ABCC1_ENST00000351154.5_Nonsense_Mutation_p.Q794*|ABCC1_ENST00000349029.5_Nonsense_Mutation_p.Q738*|ABCC1_ENST00000399408.2_Nonsense_Mutation_p.Q853*|ABCC1_ENST00000346370.5_Nonsense_Mutation_p.Q797*	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	853	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GGGCTCCTACCAGGAGCTGCT	0.607																																						uc010bvi.2		NaN																	0				ovary(4)	4						c.(2557-2559)CAG>TAG		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						34.0	36.0	35.0					16																	16184358		2049	4203	6252	SO:0001587	stop_gained	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16184358C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.2557C>T	16.37:g.16184358C>T	ENSP00000382342:p.Gln853*					ABCC1_uc010bvj.2_Nonsense_Mutation_p.Q794*|ABCC1_uc010bvk.2_Nonsense_Mutation_p.Q797*|ABCC1_uc010bvl.2_Nonsense_Mutation_p.Q853*|ABCC1_uc010bvm.2_Nonsense_Mutation_p.Q738*|ABCC1_uc002del.3_Nonsense_Mutation_p.Q737*	p.Q853*	NM_004996	NP_004987	P33527	MRP1_HUMAN			19	2732	+			853			ABC transporter 1.|Cytoplasmic.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Nonsense_Mutation	SNP	ENST00000399410.3	37	c.2557C>T	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	C	42	9.592842	0.99214	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	.	.	.	5.34	5.34	0.76211	.	0.190835	0.48286	D	0.000187	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-26.5635	18.0256	0.89268	0.0:1.0:0.0:0.0	.	.	.	.	X	853;853;797;794;853;738;527	.	ENSP00000263014:Q853X	Q	+	1	0	ABCC1	16091859	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	3.282000	0.51693	2.496000	0.84212	0.609000	0.83330	CAG		0.607	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1		NM_004996		8	37	0	0	0	1	0	8	37		
XYLT1	64131	broad.mit.edu	37	16	17211612	17211612	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:17211612C>T	ENST00000261381.6	-	11	2532	c.2448G>A	c.(2446-2448)ctG>ctA	p.L816L		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	816					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.L816L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCCAGGCCTCAGGGGCAAGT	0.552																																						uc002dfa.2		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(2446-2448)CTG>CTA		xylosyltransferase I							108.0	106.0	106.0					16																	17211612		2197	4300	6497	SO:0001819	synonymous_variant	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17211612C>T	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2448G>A	16.37:g.17211612C>T							p.L816L	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			11	2533	-			816			Lumenal (Potential).		Q9H1B6	Silent	SNP	ENST00000261381.6	37	c.2448G>A	CCDS10569.1																																																																																				0.552	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2		NM_022166		13	77	0	0	0	1	0	13	77		
PLK1	5347	broad.mit.edu	37	16	23703600	23703600	+	IGR	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:23703600G>C	ENST00000300093.4	+	0	2227				ERN2_ENST00000256797.4_Missense_Mutation_p.S766C|ERN2_ENST00000457008.2_Missense_Mutation_p.S666C	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1						activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GCTGCCACCAGAAAGCACGTA	0.567																																					Colon(12;240 564 27038 33155)	uc002dma.3		NaN																	0				large_intestine(2)|lung(2)|ovary(2)	6						c.(2296-2298)TCT>TGT		endoplasmic reticulum to nucleus signalling 2							78.0	77.0	78.0					16																	23703600		2197	4300	6497	SO:0001628	intergenic_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23703600G>C		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984		16.37:g.23703600G>C						ERN2_uc010bxp.2_Missense_Mutation_p.S714C	p.S766C	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	18	2466	-			718			Protein kinase.|Cytoplasmic (Potential).		Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	c.2297C>G	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785433	0.70337	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.51071	0.72;0.72	5.65	5.65	0.86999	.	0.124363	0.56097	D	0.000029	T	0.57184	0.2036	N	0.25286	0.73	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.61337	-0.7083	10	0.87932	D	0	.	17.2343	0.86994	0.0:0.0:1.0:0.0	.	666;718	E7ETG2;A5YM65	.;.	C	766;666	ENSP00000256797:S766C;ENSP00000413812:S666C	ENSP00000256797:S766C	S	-	2	0	ERN2	23611101	1.000000	0.71417	0.853000	0.33588	0.979000	0.70002	5.946000	0.70234	2.655000	0.90218	0.655000	0.94253	TCT		0.567	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2		NM_005030		32	104	0	0	0	1	0	32	104		
CHP2	63928	broad.mit.edu	37	16	23767007	23767007	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:23767007G>A	ENST00000300113.2	+	2	516	c.93G>A	c.(91-93)ctG>ctA	p.L31L		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	31	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		TGCTCCGCCTGCACCACCGGT	0.637																																						uc002dmb.1		NaN																	0				central_nervous_system(1)	1						c.(91-93)CTG>CTA		hepatocellular carcinoma antigen gene 520							52.0	59.0	57.0					16																	23767007		2197	4300	6497	SO:0001819	synonymous_variant	63928						calcium ion binding	g.chr16:23767007G>A		CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"""EF-hand domain containing"""	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.93G>A	16.37:g.23767007G>A							p.L31L	NM_022097	NP_071380	O43745	CHP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0144)	2	516	+			31			EF-hand 1.		A8K2I8	Silent	SNP	ENST00000300113.2	37	c.93G>A	CCDS10617.1																																																																																				0.637	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254498.1		NM_022097		22	87	0	0	0	1	0	22	87		
GTF3C1	2975	broad.mit.edu	37	16	27544708	27544708	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:27544708C>T	ENST00000356183.4	-	5	768	c.753G>A	c.(751-753)agG>agA	p.R251R	GTF3C1_ENST00000561623.1_Splice_Site_p.R251R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	251					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ATTTGCTCCTCCTGCAAGAAA	0.448																																						uc002dov.1		NaN																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(751-753)AGG>AGA		general transcription factor IIIC, polypeptide							117.0	96.0	103.0					16																	27544708		2197	4300	6497	SO:0001630	splice_region_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27544708C>T	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.753-1G>A	16.37:g.27544708C>T						GTF3C1_uc002dou.2_Silent_p.R251R	p.R251R	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			5	793	-			251					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	c.753G>A	CCDS32414.1																																																																																				0.448	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1		NM_001520	Silent	21	57	0	0	0	1	0	21	57		
XPO6	23214	broad.mit.edu	37	16	28167708	28167708	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:28167708G>T	ENST00000304658.5	-	7	1284	c.784C>A	c.(784-786)Ctg>Atg	p.L262M	XPO6_ENST00000565698.1_Missense_Mutation_p.L248M|XPO6_ENST00000561488.1_5'Flank	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	262					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CTGGCAGACAGAGGAATCCAA	0.517																																						uc002dpa.1		NaN																	0				ovary(1)|skin(1)	2						c.(784-786)CTG>ATG		exportin 6							106.0	113.0	110.0					16																	28167708		2039	4196	6235	SO:0001583	missense	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28167708G>T	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.784C>A	16.37:g.28167708G>T	ENSP00000302790:p.Leu262Met					XPO6_uc002dpb.1_Missense_Mutation_p.L248M|XPO6_uc010vcp.1_Missense_Mutation_p.L262M	p.L262M	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN			7	1285	-			262					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	c.784C>A	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055625	0.75960	.	.	ENSG00000169180	ENST00000304658	T	0.50001	0.76	5.87	5.87	0.94306	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.64287	-0.6443	10	0.48119	T	0.1	-11.1622	18.0718	0.89410	0.0:0.0:1.0:0.0	.	262;262	B7ZM10;Q96QU8	.;XPO6_HUMAN	M	262	ENSP00000302790:L262M	ENSP00000302790:L262M	L	-	1	2	XPO6	28075209	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.890000	0.48609	2.941000	0.99782	0.655000	0.94253	CTG		0.517	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1		XM_055195		22	92	1	0	2.37509e-13	1	2.49598e-13	22	92		
SULT1A2	6799	broad.mit.edu	37	16	28603660	28603660	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:28603660C>T	ENST00000395630.1	-	7	1049	c.699G>A	c.(697-699)aaG>aaA	p.K233K	SULT1A2_ENST00000335715.4_Silent_p.K233K|SULT1A2_ENST00000533150.1_Silent_p.K200K	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	233					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TAGGGTTCTTCTTCATCTCCT	0.567																																						uc002dqg.1		NaN																	0					0						c.(697-699)AAG>AAA		sulfotransferase family, cytosolic, 1A,							224.0	198.0	207.0					16																	28603660		2197	4300	6497	SO:0001819	synonymous_variant	6799				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28603660C>T	U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"""Sulfotransferases, cytosolic"""	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.699G>A	16.37:g.28603660C>T						uc010vct.1_Intron|SULT1A2_uc002dqh.1_Silent_p.K233K	p.K233K	NM_177528	NP_803564	P50226	ST1A2_HUMAN			7	1050	-			233					A9QY25|P78393|Q14CJ7	Silent	SNP	ENST00000395630.1	37	c.699G>A	CCDS10636.1																																																																																				0.567	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109415.2		NM_001054		46	182	0	0	0	1	0	46	182		
SH2B1	25970	broad.mit.edu	37	16	28883708	28883708	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:28883708C>T	ENST00000322610.8	+	9	2150	c.1711C>T	c.(1711-1713)Cag>Tag	p.Q571*	SH2B1_ENST00000337120.5_Nonsense_Mutation_p.Q571*|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000545570.1_Nonsense_Mutation_p.Q261*|SH2B1_ENST00000359285.5_Nonsense_Mutation_p.Q571*|SH2B1_ENST00000538342.1_Nonsense_Mutation_p.Q235*|SH2B1_ENST00000395532.4_Nonsense_Mutation_p.Q571*			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	571	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CTTCAACTTCCAGGGCAAGGC	0.617																																						uc002dri.2		NaN																	0				ovary(2)	2						c.(1711-1713)CAG>TAG		SH2B adaptor protein 1 isoform 1							43.0	44.0	44.0					16																	28883708		2197	4300	6497	SO:0001587	stop_gained	25970				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	g.chr16:28883708C>T	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1711C>T	16.37:g.28883708C>T	ENSP00000321221:p.Gln571*					uc010vct.1_Intron|SH2B1_uc010vdc.1_Nonsense_Mutation_p.Q261*|SH2B1_uc002drj.2_Nonsense_Mutation_p.Q571*|SH2B1_uc002drk.2_Nonsense_Mutation_p.Q571*|SH2B1_uc002drl.2_Nonsense_Mutation_p.Q571*|SH2B1_uc010vdd.1_Nonsense_Mutation_p.Q235*|SH2B1_uc010vde.1_Nonsense_Mutation_p.Q571*|SH2B1_uc002drm.2_Nonsense_Mutation_p.Q571*	p.Q571*	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN			9	2150	+			571			SH2.		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Nonsense_Mutation	SNP	ENST00000322610.8	37	c.1711C>T	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	C	39	7.497816	0.98322	.	.	ENSG00000178188	ENST00000322610;ENST00000545570;ENST00000359285;ENST00000538342;ENST00000395532;ENST00000337120	.	.	.	4.71	4.71	0.59529	.	0.153774	0.43110	D	0.000608	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-30.6319	16.5939	0.84791	0.0:1.0:0.0:0.0	.	.	.	.	X	571;261;571;235;571;571	.	ENSP00000321221:Q571X	Q	+	1	0	SH2B1	28791209	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.205000	0.77881	2.436000	0.82500	0.655000	0.94253	CAG		0.617	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1		NM_015503		20	60	0	0	0	1	0	20	60		
SRCAP	10847	broad.mit.edu	37	16	30750601	30750601	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:30750601G>C	ENST00000262518.4	+	34	9625	c.9240G>C	c.(9238-9240)aaG>aaC	p.K3080N	RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.K2922N|SRCAP_ENST00000395059.2_Missense_Mutation_p.K3018N	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	3080					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GAGGACGGAAGAGTGGAGGGT	0.587																																						uc002dze.1		NaN																	0				ovary(3)|skin(1)	4						c.(9238-9240)AAG>AAC		Snf2-related CBP activator protein							73.0	68.0	70.0					16																	30750601		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30750601G>C	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.9240G>C	16.37:g.30750601G>C	ENSP00000262518:p.Lys3080Asn					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.K2875N	p.K3080N	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	9625	+			3080					B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.9240G>C	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	7.344	0.621566	0.14193	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.93019	-3.13;-3.15;-3.15	4.97	3.01	0.34805	.	0.000000	0.49305	D	0.000143	D	0.89866	0.6839	N	0.08118	0	0.23865	N	0.996623	D;D	0.65815	0.995;0.991	D;P	0.63877	0.919;0.831	T	0.82125	-0.0612	10	0.34782	T	0.22	-14.6629	8.7318	0.34503	0.1797:0.0:0.8203:0.0	.	3018;3080	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	N	3080;3018;2922	ENSP00000262518:K3080N;ENSP00000378499:K3018N;ENSP00000343042:K2922N	ENSP00000262518:K3080N	K	+	3	2	SRCAP	30658102	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.602000	0.36783	0.687000	0.31509	0.462000	0.41574	AAG		0.587	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1		NM_006662		16	48	0	0	0	1	0	16	48		
ZNF646	9726	broad.mit.edu	37	16	31087769	31087769	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:31087769G>A	ENST00000394979.2	+	1	547	c.124G>A	c.(124-126)Gac>Aac	p.D42N	ZNF668_ENST00000300849.4_5'Flank|ZNF646_ENST00000300850.5_Missense_Mutation_p.D42N|ZNF668_ENST00000394983.2_5'Flank|ZNF668_ENST00000538906.1_5'Flank|ZNF668_ENST00000564456.1_5'Flank			O15015	ZN646_HUMAN	zinc finger protein 646	42					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGAGGAGGCTGACAGCATCCC	0.632																																						uc002eap.2		NaN																	0				breast(2)	2						c.(124-126)GAC>AAC		zinc finger protein 646							119.0	95.0	103.0					16																	31087769		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31087769G>A	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.124G>A	16.37:g.31087769G>A	ENSP00000378429:p.Asp42Asn					ZNF668_uc002eao.2_5'Flank	p.D42N	NM_014699	NP_055514	O15015	ZN646_HUMAN			2	413	+			42					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.124G>A		.	.	.	.	.	.	.	.	.	.	G	17.28	3.349098	0.61183	.	.	ENSG00000167395	ENST00000428260;ENST00000300850;ENST00000394979	T;T;T	0.10477	3.26;2.87;2.92	5.9	3.95	0.45737	.	.	.	.	.	T	0.09905	0.0243	L	0.38175	1.15	0.19575	N	0.999965	P	0.39759	0.687	B	0.42555	0.391	T	0.16689	-1.0394	9	0.10902	T	0.67	-11.5561	8.9999	0.36074	0.1687:0.0:0.8313:0.0	.	42	O15015-2	.	N	42	ENSP00000391271:D42N;ENSP00000300850:D42N;ENSP00000378429:D42N	ENSP00000300850:D42N	D	+	1	0	ZNF646	30995270	0.407000	0.25352	0.503000	0.27626	0.972000	0.66771	0.946000	0.29069	0.837000	0.34925	0.563000	0.77884	GAC		0.632	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2		NM_014699		48	117	0	0	0	1	0	48	117		
ITGAM	3684	broad.mit.edu	37	16	31283172	31283172	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:31283172C>G	ENST00000287497.8	+	7	638	c.563C>G	c.(562-564)tCt>tGt	p.S188C	ITGAM_ENST00000544665.3_Missense_Mutation_p.S188C			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	188	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCGCAGTTCTCTTTGATGCAG	0.517																																						uc002ebq.2		NaN																	0				kidney(1)	1						c.(562-564)TCT>TGT		integrin alpha M isoform 2 precursor							38.0	39.0	39.0					16																	31283172		1905	4120	6025	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31283172C>G	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.563C>G	16.37:g.31283172C>G	ENSP00000287497:p.Ser188Cys					ITGAM_uc002ebr.2_Missense_Mutation_p.S188C	p.S188C	NM_000632	NP_000623	P11215	ITAM_HUMAN			7	661	+			188			VWFA.|Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.563C>G	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285848	0.59867	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.26067	1.76;1.76	5.5	5.5	0.81552	von Willebrand factor, type A (3);	.	.	.	.	T	0.53753	0.1816	M	0.80982	2.52	0.36066	D	0.841817	D;D	0.76494	0.999;0.999	D;D	0.69824	0.966;0.966	T	0.64901	-0.6298	9	0.72032	D	0.01	.	16.6712	0.85267	0.0:1.0:0.0:0.0	.	188;188	Q4VAK1;P11215	.;ITAM_HUMAN	C	188	ENSP00000441691:S188C;ENSP00000287497:S188C	ENSP00000287497:S188C	S	+	2	0	ITGAM	31190673	0.973000	0.33851	1.000000	0.80357	0.400000	0.30750	4.782000	0.62396	2.758000	0.94735	0.561000	0.74099	TCT		0.517	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1		NM_000632		16	46	0	0	0	1	0	16	46		
VPS35	55737	broad.mit.edu	37	16	46694412	46694412	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:46694412C>T	ENST00000299138.7	-	17	2421	c.2363G>A	c.(2362-2364)gGg>gAg	p.G788E	RP11-93O14.2_ENST00000569353.1_RNA	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	788					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ATAAATTGGCCCCTCGGATTC	0.438																																						uc002eef.3		NaN																	0					0						c.(2362-2364)GGG>GAG		vacuolar protein sorting 35							113.0	121.0	118.0					16																	46694412		2203	4300	6503	SO:0001583	missense	55737				protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	g.chr16:46694412C>T	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.2363G>A	16.37:g.46694412C>T	ENSP00000299138:p.Gly788Glu					VPS35_uc002eed.2_3'UTR|VPS35_uc002eee.2_Missense_Mutation_p.G749E	p.G788E	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN			17	2462	-		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	788					Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	ENST00000299138.7	37	c.2363G>A	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	.	19.56	3.851472	0.71719	.	.	ENSG00000069329	ENST00000299138;ENST00000541330	T	0.38887	1.11	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.39489	0.1080	L	0.42245	1.32	0.80722	D	1	B	0.24721	0.11	B	0.19148	0.024	T	0.10567	-1.0624	10	0.34782	T	0.22	-17.6554	19.7137	0.96107	0.0:1.0:0.0:0.0	.	788	Q96QK1	VPS35_HUMAN	E	788;654	ENSP00000299138:G788E	ENSP00000299138:G788E	G	-	2	0	VPS35	45251913	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.629000	0.83207	2.655000	0.90218	0.462000	0.41574	GGG		0.438	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3				20	84	0	0	0	1	0	20	84		
ABCC12	94160	broad.mit.edu	37	16	48162609	48162609	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:48162609G>A	ENST00000311303.3	-	9	1621	c.1276C>T	c.(1276-1278)Caa>Taa	p.Q426*	ABCC12_ENST00000416054.1_Nonsense_Mutation_p.Q426*|ABCC12_ENST00000448542.1_Nonsense_Mutation_p.Q426*	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	426						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TCTTCTGGTTGGGTGATGTAA	0.413																																						uc002efc.1		NaN																	0				ovary(2)|skin(1)	3						c.(1276-1278)CAA>TAA		ATP-binding cassette protein C12							131.0	128.0	129.0					16																	48162609		2201	4300	6501	SO:0001587	stop_gained	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48162609G>A	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1276C>T	16.37:g.48162609G>A	ENSP00000311030:p.Gln426*					ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Nonsense_Mutation_p.Q426*	p.Q426*	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			9	1622	-		all_cancers(37;0.0474)|all_lung(18;0.047)	426					Q49AL2|Q8TAF0|Q8TEY2	Nonsense_Mutation	SNP	ENST00000311303.3	37	c.1276C>T	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	G	36	5.831866	0.97003	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054	.	.	.	5.66	4.7	0.59300	.	0.370813	0.31450	N	0.007639	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2721	0.60167	0.0:0.0:0.8411:0.1589	.	.	.	.	X	426;426;368;426	.	ENSP00000311030:Q426X	Q	-	1	0	ABCC12	46720110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.188000	0.58351	1.364000	0.46038	0.561000	0.74099	CAA		0.413	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1		NM_033226		27	90	0	0	0	1	0	27	90		
LONP2	83752	broad.mit.edu	37	16	48290643	48290643	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:48290643G>A	ENST00000285737.4	+	3	684	c.591G>A	c.(589-591)gaG>gaA	p.E197E	LONP2_ENST00000535754.1_Intron	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCAACAAAGAGAAACTCCAGG	0.393																																						uc002efi.1		NaN																	0					0						c.(589-591)GAG>GAA		peroxisomal LON protease-like							100.0	97.0	98.0					16																	48290643		2200	4300	6500	SO:0001819	synonymous_variant	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48290643G>A	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.591G>A	16.37:g.48290643G>A						LONP2_uc010vgm.1_Intron|LONP2_uc002efj.1_Intron	p.E197E	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN			3	680	+			197			Lon.			Silent	SNP	ENST00000285737.4	37	c.591G>A	CCDS10734.1																																																																																				0.393	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2		NM_031490		15	55	0	0	0	1	0	15	55		
CHD9	80205	broad.mit.edu	37	16	53352146	53352146	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:53352146G>A	ENST00000398510.3	+	36	7694	c.7607G>A	c.(7606-7608)aGa>aAa	p.R2536K	CHD9_ENST00000564845.1_Missense_Mutation_p.R2520K|CHD9_ENST00000566029.1_Missense_Mutation_p.R2520K|CHD9_ENST00000447540.1_Missense_Mutation_p.R2521K			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2536					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CATGAGGGAAGACCCAAACAA	0.338																																						uc002ehb.2		NaN																	0				lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(7606-7608)AGA>AAA		chromodomain helicase DNA binding protein 9							80.0	78.0	78.0					16																	53352146		1804	4074	5878	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53352146G>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.7607G>A	16.37:g.53352146G>A	ENSP00000381522:p.Arg2536Lys					CHD9_uc002egy.2_Missense_Mutation_p.R2520K|CHD9_uc002ehc.2_Missense_Mutation_p.R2521K|CHD9_uc002ehf.2_Missense_Mutation_p.R1634K|CHD9_uc010cbw.2_Missense_Mutation_p.R602K	p.R2536K	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			36	7771	+		all_cancers(37;0.0212)	2536					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.7607G>A		.	.	.	.	.	.	.	.	.	.	G	11.67	1.708823	0.30322	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D	0.84442	-1.85	5.61	4.66	0.58398	.	0.089626	0.47852	N	0.000215	D	0.84392	0.5462	N	0.16790	0.44	0.47183	D	0.999349	B;B;B;D	0.61697	0.431;0.394;0.324;0.99	B;B;B;D	0.72982	0.065;0.12;0.172;0.979	T	0.80665	-0.1281	10	0.13108	T	0.6	-9.5542	14.8658	0.70416	0.0691:0.0:0.9309:0.0	.	602;2521;2536;2520	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	K	2521;2520;602	ENSP00000396345:R2521K	ENSP00000381522:R2520K	R	+	2	0	CHD9	51909647	1.000000	0.71417	0.987000	0.45799	0.666000	0.39218	4.524000	0.60552	1.518000	0.48934	0.655000	0.94253	AGA		0.338	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1		NM_025134		3	22	0	0	0	1	0	3	22		
CAPNS2	84290	broad.mit.edu	37	16	55601337	55601337	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:55601337C>G	ENST00000457326.2	+	1	754	c.669C>G	c.(667-669)ttC>ttG	p.F223L	LPCAT2_ENST00000262134.5_Intron|LPCAT2_ENST00000565056.1_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	223	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						TTCGTGCCTTCAAGTCTCTGG	0.443																																						uc002eid.1		NaN																	0					0						c.(667-669)TTC>TTG		calpain small subunit 2							164.0	160.0	162.0					16																	55601337		1972	4166	6138	SO:0001583	missense	84290					cytoplasm|plasma membrane	calcium ion binding	g.chr16:55601337C>G	AY052551	CCDS54010.1	16q12.2	2013-01-10						"""EF-hand domain containing"""	16371	protein-coding gene	gene with protein product						11853546	Standard	NM_032330		Approved	MGC12536, MGC14804	uc002eid.1	Q96L46		ENST00000457326.2:c.669C>G	16.37:g.55601337C>G	ENSP00000400882:p.Phe223Leu					LPCAT2_uc002eie.3_Intron|LPCAT2_uc002eic.2_Intron	p.F223L	NM_032330	NP_115706	Q96L46	CPNS2_HUMAN			1	754	+			223			EF-hand 4.		Q9BPV4	Missense_Mutation	SNP	ENST00000457326.2	37	c.669C>G	CCDS54010.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518666	0.64634	.	.	ENSG00000256812	ENST00000457326	T	0.47528	0.84	5.98	2.97	0.34412	EF-hand-like domain (1);	.	.	.	.	T	0.44159	0.1280	M	0.67569	2.06	0.50632	D	0.99988	P	0.47604	0.898	B	0.40506	0.331	T	0.47471	-0.9115	9	0.66056	D	0.02	.	9.5175	0.39115	0.0:0.7312:0.0:0.2688	.	223	Q96L46	CPNS2_HUMAN	L	223	ENSP00000400882:F223L	ENSP00000400882:F223L	F	+	3	2	CAPNS2	54158838	0.999000	0.42202	0.996000	0.52242	0.952000	0.60782	0.796000	0.26986	0.870000	0.35726	-0.142000	0.14014	TTC		0.443	CAPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396391.1		NM_032330		58	153	0	0	0	1	0	58	153		
OGFOD1	55239	broad.mit.edu	37	16	56485527	56485527	+	Start_Codon_SNP	SNP	G	G	T	rs372730279		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:56485527G>T	ENST00000566157.1	+	1	126	c.3G>T	c.(1-3)atG>atT	p.M1I	OGFOD1_ENST00000568397.1_Start_Codon_SNP_p.M1I|NUDT21_ENST00000300291.5_5'Flank	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	1					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	GGGAAGAGATGAATGGGAAGC	0.587																																						uc002ejb.2		NaN																	0				skin(1)	1						c.(1-3)ATG>ATT		2-oxoglutarate and iron-dependent oxygenase	Vitamin C(DB00126)						90.0	104.0	100.0					16																	56485527		2198	4300	6498	SO:0001582	initiator_codon_variant	55239						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:56485527G>T	BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"""TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"""	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.3G>T	16.37:g.56485527G>T	ENSP00000457258:p.Met1Ile					OGFOD1_uc002ejc.2_Intron|NUDT21_uc002eja.2_5'Flank	p.M1I	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN			1	104	+			1					H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Missense_Mutation	SNP	ENST00000566157.1	37	c.3G>T	CCDS10761.2	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742434	0.69418	.	.	ENSG00000087263	ENST00000336111	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.50939	0.1645	.	.	.	0.80722	D	1	P	0.35383	0.498	B	0.30401	0.115	T	0.57159	-0.7859	8	0.72032	D	0.01	-18.1399	15.9409	0.79754	0.0:0.0:1.0:0.0	.	1	Q8N543	OGFD1_HUMAN	I	1	.	ENSP00000337196:M1I	M	+	3	0	OGFOD1	55043028	1.000000	0.71417	0.999000	0.59377	0.634000	0.38068	5.450000	0.66626	2.758000	0.94735	0.563000	0.77884	ATG		0.587	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3		NM_018233	Missense_Mutation	42	177	1	0	5.20006e-24	1	5.54389e-24	42	177		
HERPUD1	9709	broad.mit.edu	37	16	56970630	56970630	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:56970630C>G	ENST00000439977.2	+	4	529	c.332C>G	c.(331-333)tCt>tGt	p.S111C	HERPUD1_ENST00000344114.4_Missense_Mutation_p.S110C|HERPUD1_ENST00000379792.2_Missense_Mutation_p.S86C|HERPUD1_ENST00000300302.5_Missense_Mutation_p.S110C|HERPUD1_ENST00000570273.1_3'UTR	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	111					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						CCTGCTGGTTCTAATCGGGGA	0.453			T	ERG	prostate																																	uc002eke.1		NaN		Dom	yes		16	16q12.2-q13	9709	T	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"""			E	ERG		prostate		0					0						c.(331-333)TCT>TGT		homocysteine-inducible, endoplasmic reticulum							108.0	102.0	104.0					16																	56970630		2198	4300	6498	SO:0001583	missense	9709					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr16:56970630C>G	AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.332C>G	16.37:g.56970630C>G	ENSP00000409555:p.Ser111Cys					HERPUD1_uc010vhj.1_Missense_Mutation_p.S172C|HERPUD1_uc002ekf.1_Missense_Mutation_p.S110C|HERPUD1_uc002ekg.1_Missense_Mutation_p.S86C|HERPUD1_uc010cco.1_Missense_Mutation_p.S172C|HERPUD1_uc010ccp.1_Missense_Mutation_p.S171C|HERPUD1_uc002ekh.1_5'UTR	p.S111C	NM_014685	NP_055500	Q15011	HERP1_HUMAN			4	741	+			111			Cytoplasmic (Potential).		E9PGD1|O60644|Q6IAN8|Q96D92	Missense_Mutation	SNP	ENST00000439977.2	37	c.332C>G	CCDS10771.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527256	0.27299	.	.	ENSG00000051108	ENST00000439977;ENST00000379792;ENST00000300302;ENST00000344114	T;T	0.47869	1.42;0.83	6.16	1.64	0.23874	.	1.302940	0.04604	N	0.399033	T	0.41558	0.1164	L	0.29908	0.895	0.09310	N	1	P;B;P;B;P;P	0.46220	0.556;0.373;0.874;0.24;0.606;0.472	B;B;P;B;P;B	0.47044	0.112;0.224;0.535;0.086;0.497;0.302	T	0.21415	-1.0246	10	0.54805	T	0.06	-18.2907	2.9281	0.05791	0.1977:0.3238:0.0:0.4785	.	111;110;111;86;110;111	B4E3N8;Q15011-3;A4UAE9;E9PGD1;Q15011-2;Q15011	.;.;.;.;.;HERP1_HUMAN	C	110;86;111;110	ENSP00000369118:S86C;ENSP00000340931:S110C	ENSP00000300302:S111C	S	+	2	0	HERPUD1	55528131	0.000000	0.05858	0.000000	0.03702	0.844000	0.47949	0.156000	0.16382	0.054000	0.16065	-0.143000	0.13931	TCT		0.453	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5				14	53	0	0	0	1	0	14	53		
GPR97	222487	broad.mit.edu	37	16	57710248	57710248	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:57710248C>T	ENST00000333493.4	+	3	504	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	GPR97_ENST00000327655.6_5'UTR|GPR97_ENST00000450388.3_Intron	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	115					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGAGCCCTCTCAGGTGAAGAG	0.473																																						uc002emh.2		NaN																	0				ovary(1)	1						c.(343-345)CAG>TAG		G protein-coupled receptor 97 precursor							91.0	90.0	91.0					16																	57710248		2198	4300	6498	SO:0001587	stop_gained	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57710248C>T	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.343C>T	16.37:g.57710248C>T	ENSP00000332900:p.Gln115*					GPR97_uc010cdc.2_Nonsense_Mutation_p.Q115*|GPR97_uc010vhv.1_Intron|GPR97_uc010cdd.2_RNA	p.Q115*	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN			3	446	+			115			Extracellular (Potential).		Q6ZMF4|Q86SL9|Q8IZF1	Nonsense_Mutation	SNP	ENST00000333493.4	37	c.343C>T	CCDS10786.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527142	0.64860	.	.	ENSG00000182885	ENST00000333493	.	.	.	4.86	0.354	0.16063	.	0.364316	0.23587	N	0.046593	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	7.5995	0.28067	0.3045:0.3991:0.2964:0.0	.	.	.	.	X	115	.	ENSP00000332900:Q115X	Q	+	1	0	GPR97	56267749	0.013000	0.17824	0.132000	0.22025	0.755000	0.42902	-0.197000	0.09518	0.011000	0.14865	0.491000	0.48974	CAG		0.473	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2		NM_170776		23	67	0	0	0	1	0	23	67		
RLTPR	146206	broad.mit.edu	37	16	67681650	67681650	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:67681650G>C	ENST00000334583.6	+	12	1267	c.939G>C	c.(937-939)caG>caC	p.Q313H	RLTPR_ENST00000545661.1_Missense_Mutation_p.Q313H	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	313					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GCCTGGCCCAGACAGGGTTGA	0.657																																						uc002etn.2		NaN																	0				breast(1)	1						c.(937-939)CAG>CAC		RGD motif, leucine rich repeats, tropomodulin							19.0	21.0	21.0					16																	67681650		1950	4101	6051	SO:0001583	missense	146206							g.chr16:67681650G>C	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.939G>C	16.37:g.67681650G>C	ENSP00000334958:p.Gln313His					RLTPR_uc010cel.1_Missense_Mutation_p.Q313H|RLTPR_uc010vjr.1_Missense_Mutation_p.Q313H	p.Q313H	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	12	1059	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	313			LRR 5.		B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.939G>C	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.209403	0.39003	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.52754	0.65;0.65	3.8	1.79	0.24919	.	0.666424	0.14029	N	0.346267	T	0.34454	0.0898	N	0.05031	-0.125	0.25988	N	0.982281	B;D	0.61697	0.001;0.99	B;P	0.53593	0.002;0.73	T	0.14337	-1.0476	10	0.54805	T	0.06	-8.17	7.1541	0.25626	0.0953:0.3259:0.5788:0.0	.	313;313	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	H	313	ENSP00000334958:Q313H;ENSP00000441481:Q313H	ENSP00000334958:Q313H	Q	+	3	2	RLTPR	66239151	0.969000	0.33509	0.841000	0.33234	0.421000	0.31385	1.135000	0.31454	0.379000	0.24794	0.462000	0.41574	CAG		0.657	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1		NM_001013838		4	12	0	0	0	1	0	4	12		
RLTPR	146206	broad.mit.edu	37	16	67683002	67683002	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:67683002C>G	ENST00000334583.6	+	18	1943	c.1615C>G	c.(1615-1617)Ctg>Gtg	p.L539V	RLTPR_ENST00000545661.1_Missense_Mutation_p.L503V	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	539					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CATGGTGACTCTGGTGCTGGC	0.617																																						uc002etn.2		NaN																	0				breast(1)	1						c.(1615-1617)CTG>GTG		RGD motif, leucine rich repeats, tropomodulin							41.0	49.0	46.0					16																	67683002		2080	4206	6286	SO:0001583	missense	146206							g.chr16:67683002C>G	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1615C>G	16.37:g.67683002C>G	ENSP00000334958:p.Leu539Val					RLTPR_uc010cel.1_Missense_Mutation_p.L532V|RLTPR_uc010vjr.1_Missense_Mutation_p.L503V	p.L539V	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	18	1735	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	539			LRR 11.		B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.1615C>G	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303496	0.40795	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.68025	-0.3;-0.3	5.07	4.01	0.46588	.	0.000000	0.64402	D	0.000007	T	0.64125	0.2570	N	0.16903	0.455	0.38845	D	0.95615	D;D	0.76494	0.999;0.997	D;D	0.78314	0.991;0.991	T	0.64909	-0.6296	10	0.41790	T	0.15	-20.7911	7.0924	0.25291	0.0:0.7895:0.0:0.2105	.	503;539	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	V	539;503	ENSP00000334958:L539V;ENSP00000441481:L503V	ENSP00000334958:L539V	L	+	1	2	RLTPR	66240503	0.947000	0.32204	0.990000	0.47175	0.062000	0.15995	1.232000	0.32636	2.367000	0.80283	0.655000	0.94253	CTG		0.617	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1		NM_001013838		14	25	0	0	0	1	0	14	25		
NUTF2	10204	broad.mit.edu	37	16	67899100	67899100	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:67899100G>C	ENST00000219169.4	+	2	350	c.67G>C	c.(67-69)Gat>Cat	p.D23H	NUTF2_ENST00000569436.2_Missense_Mutation_p.D23H|NUTF2_ENST00000568396.2_Missense_Mutation_p.D23H	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2	23	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				protein export from nucleus (GO:0006611)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	transporter activity (GO:0005215)			kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		CCAGTTATTTGATAATGATAG	0.493																																						uc002eup.2		NaN																	0					0						c.(67-69)GAT>CAT		nuclear transport factor 2							77.0	67.0	71.0					16																	67899100		2198	4300	6498	SO:0001583	missense	10204				protein transport	cytosol|nuclear pore	protein binding|transporter activity	g.chr16:67899100G>C	U43939	CCDS10848.1	16q22.1	2008-02-05			ENSG00000102898	ENSG00000102898			13722	protein-coding gene	gene with protein product		605813				7744965, 3380696	Standard	NM_005796		Approved	NTF2, PP15	uc002eup.3	P61970	OTTHUMG00000137540	ENST00000219169.4:c.67G>C	16.37:g.67899100G>C	ENSP00000219169:p.Asp23His					NUTF2_uc010vkf.1_Missense_Mutation_p.D23H	p.D23H	NM_005796	NP_005787	P61970	NTF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)	2	166	+		Ovarian(137;0.0563)	23			NTF2.		B2R4G7|P13662|Q6IB67	Missense_Mutation	SNP	ENST00000219169.4	37	c.67G>C	CCDS10848.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744500	0.89663	.	.	ENSG00000102898	ENST00000219169	.	.	.	5.42	5.42	0.78866	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	D	0.88009	0.6322	H	0.96048	3.76	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.97110	1.0;0.91	D	0.91639	0.5325	9	0.87932	D	0	-6.0493	18.0088	0.89217	0.0:0.0:1.0:0.0	.	23;23	B4DEQ2;P61970	.;NTF2_HUMAN	H	23	.	ENSP00000219169:D23H	D	+	1	0	NUTF2	66456601	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.011000	0.93618	2.557000	0.86248	0.555000	0.69702	GAT		0.493	NUTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268871.1				16	49	0	0	0	1	0	16	49		
PRMT7	54496	broad.mit.edu	37	16	68386284	68386284	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:68386284C>T	ENST00000339507.5	+	15	2377	c.1547C>T	c.(1546-1548)tCg>tTg	p.S516L	PRMT7_ENST00000348497.4_Missense_Mutation_p.S368L|PRMT7_ENST00000449359.3_Missense_Mutation_p.S466L|PRMT7_ENST00000441236.1_Missense_Mutation_p.S466L			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	516	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CAGGCAGCCTCGCTGCACGCT	0.617																																						uc002evy.1		NaN																	0					0						c.(1546-1548)TCG>TTG		protein arginine methyltransferase 7							61.0	54.0	57.0					16																	68386284		2198	4300	6498	SO:0001583	missense	54496				cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr16:68386284C>T	AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.1547C>T	16.37:g.68386284C>T	ENSP00000343103:p.Ser516Leu					PRMT7_uc002evx.1_Missense_Mutation_p.S442L|PRMT7_uc010vlg.1_Missense_Mutation_p.S466L|PRMT7_uc002evz.1_Missense_Mutation_p.S288L|PRMT7_uc010cfd.1_Missense_Mutation_p.S8L	p.S516L	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)	15	1823	+		Ovarian(137;0.192)	516					B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	ENST00000339507.5	37	c.1547C>T	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447576	0.63178	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.92	5.92	0.95590	.	0.225500	0.47093	D	0.000253	T	0.24928	0.0605	M	0.71036	2.16	0.25852	N	0.98392	B;P;B;B	0.40931	0.049;0.733;0.029;0.049	B;B;B;B	0.34652	0.01;0.187;0.002;0.016	T	0.31447	-0.9943	10	0.22706	T	0.39	-9.5958	17.8152	0.88630	0.0:1.0:0.0:0.0	.	466;368;516;516	Q9NVM4-3;Q9NVM4-2;Q9NVM4;Q9NVM4-4	.;.;ANM7_HUMAN;.	L	466;466;368;516	ENSP00000414716:S466L;ENSP00000409324:S466L;ENSP00000345775:S368L;ENSP00000343103:S516L	ENSP00000343103:S516L	S	+	2	0	PRMT7	66943785	1.000000	0.71417	0.935000	0.37517	0.899000	0.52679	5.628000	0.67791	2.804000	0.96469	0.655000	0.94253	TCG		0.617	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3		NM_019023		27	81	0	0	0	1	0	27	81		
CDH3	1001	broad.mit.edu	37	16	68721569	68721569	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:68721569C>T	ENST00000264012.4	+	12	2269	c.1725C>T	c.(1723-1725)caC>caT	p.H575H	CDH3_ENST00000581171.1_Silent_p.H520H|CDH3_ENST00000429102.2_Silent_p.H575H	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	575	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TGTCTCCCCACACCTCCCCTT	0.597																																						uc002ewf.2		NaN																	2	Unknown(2)	p.?(1)	breast(2)	ovary(3)|breast(1)|skin(1)	5						c.(1723-1725)CAC>CAT		cadherin 3, type 1 preproprotein							144.0	111.0	122.0					16																	68721569		2198	4300	6498	SO:0001819	synonymous_variant	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68721569C>T	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1725C>T	16.37:g.68721569C>T						CDH3_uc010vli.1_Silent_p.H520H	p.H575H	NM_001793	NP_001784	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	12	2857	+		Ovarian(137;0.0564)	575			Cadherin 5.|Extracellular (Potential).		B2R6F4|Q05DI6	Silent	SNP	ENST00000264012.4	37	c.1725C>T	CCDS10868.1																																																																																				0.597	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2		NM_001793		23	91	0	0	0	1	0	23	91		
TANGO6	79613	broad.mit.edu	37	16	68961944	68961944	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:68961944G>C	ENST00000261778.1	+	13	2613	c.2601G>C	c.(2599-2601)caG>caC	p.Q867H	RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	867						integral component of membrane (GO:0016021)											GGATAGAGCAGAGAGAAGCAA	0.488																																						uc002ewi.3		NaN																	0					0						c.(2599-2601)CAG>CAC		transmembrane and coiled-coil domains 7							32.0	31.0	31.0					16																	68961944		1893	4136	6029	SO:0001583	missense	79613					integral to membrane	binding	g.chr16:68961944G>C		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2601G>C	16.37:g.68961944G>C	ENSP00000261778:p.Gln867His						p.Q867H	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)	13	2613	+		Ovarian(137;0.0568)	867					Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	c.2601G>C	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992786	0.35131	.	.	ENSG00000103047	ENST00000261778	T	0.63744	-0.06	5.37	2.31	0.28768	Armadillo-like helical (1);Armadillo-type fold (1);	0.507407	0.23345	N	0.049194	T	0.68641	0.3023	L	0.59436	1.845	0.42889	D	0.994192	P	0.46512	0.879	P	0.58013	0.831	T	0.66420	-0.5928	10	0.42905	T	0.14	-5.6685	9.8287	0.40928	0.2825:0.0:0.7175:0.0	.	867	Q9C0B7	TMCO7_HUMAN	H	867	ENSP00000261778:Q867H	ENSP00000261778:Q867H	Q	+	3	2	TMCO7	67519445	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	1.083000	0.30815	0.645000	0.30675	0.655000	0.94253	CAG		0.488	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2		XM_928235.2		5	9	0	0	0	1	0	5	9		
HYDIN	54768	broad.mit.edu	37	16	70975573	70975573	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:70975573C>T	ENST00000393567.2	-	43	6969	c.6819G>A	c.(6817-6819)atG>atA	p.M2273I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2273					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCTGGGCCTTCATGGCTGCGT	0.527																																						uc002ezr.2		NaN																	0				ovary(1)|skin(1)	2						c.(6814-6816)ATG>ATA		hydrocephalus inducing isoform a							147.0	142.0	144.0					16																	70975573		2003	4163	6166	SO:0001583	missense	54768							g.chr16:70975573C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6819G>A	16.37:g.70975573C>T	ENSP00000377197:p.Met2273Ile						p.M2272I	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			43	6944	-		Ovarian(137;0.0654)	2273			Potential.		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.6816G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350847	0.82132	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00776	5.71	5.32	5.32	0.75619	.	0.467678	0.15479	U	0.260217	T	0.01870	0.0059	L	0.29908	0.895	0.80722	D	1	D	0.61697	0.99	P	0.56216	0.794	T	0.80538	-0.1338	10	0.28530	T	0.3	.	18.9511	0.92641	0.0:1.0:0.0:0.0	.	2272	F8WD23	.	I	2273;2272	ENSP00000377197:M2273I	ENSP00000313052:M2272I	M	-	3	0	HYDIN	69533074	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	2.496000	0.45346	2.649000	0.89929	0.508000	0.49915	ATG		0.527	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3				30	119	0	0	0	1	0	30	119		
TAT	6898	broad.mit.edu	37	16	71610277	71610277	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:71610277G>C	ENST00000355962.4	-	2	175	c.42C>G	c.(40-42)ctC>ctG	p.L14L	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	14					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	GAATTGAGGGGAGGTTGCCTT	0.527																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	uc002fap.2		NaN																	0				ovary(2)	2						c.(40-42)CTC>CTG		tyrosine aminotransferase	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)						113.0	112.0	113.0					16																	71610277		2198	4300	6498	SO:0001819	synonymous_variant	6898				2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:71610277G>C		CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.42C>G	16.37:g.71610277G>C						TAT_uc002faq.2_Silent_p.L14L|TAT_uc002far.2_Silent_p.L14L	p.L14L	NM_000353	NP_000344	P17735	ATTY_HUMAN		Kidney(780;0.0157)	2	141	-		Ovarian(137;0.125)	14					B2R8I1|D3DWS2	Silent	SNP	ENST00000355962.4	37	c.42C>G	CCDS10903.1																																																																																				0.527	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1				20	76	0	0	0	1	0	20	76		
PHLPP2	23035	broad.mit.edu	37	16	71718466	71718466	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:71718466G>A	ENST00000568954.1	-	5	1026	c.648C>T	c.(646-648)ttC>ttT	p.F216F	PHLPP2_ENST00000356272.3_Silent_p.F216F|PHLPP2_ENST00000567016.1_Silent_p.F251F|PHLPP2_ENST00000393524.2_Silent_p.F216F|PHLPP2_ENST00000360429.3_Silent_p.F216F			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	216	PH.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CTGCTGAGCTGAAAGCAAGGG	0.468																																						uc002fax.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(646-648)TTC>TTT		PH domain and leucine rich repeat protein							72.0	69.0	70.0					16																	71718466		2198	4300	6498	SO:0001819	synonymous_variant	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71718466G>A	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.648C>T	16.37:g.71718466G>A						PHLPP2_uc002fav.2_5'Flank|PHLPP2_uc010cgf.2_Silent_p.F216F|PHLPP2_uc002fay.1_Silent_p.F216F	p.F216F	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN			4	654	-			216			PH.		A1L374|Q9NV17|Q9Y2E3	Silent	SNP	ENST00000568954.1	37	c.648C>T	CCDS32479.1																																																																																				0.468	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1		NM_015020		22	77	0	0	0	1	0	22	77		
HP	3240	broad.mit.edu	37	16	72094738	72094738	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:72094738G>A	ENST00000355906.5	+	7	1228	c.1170G>A	c.(1168-1170)gtG>gtA	p.V390V	HP_ENST00000357763.4_Silent_p.V426V|HPR_ENST00000356967.5_Intron|HP_ENST00000562526.1_3'UTR|HP_ENST00000398131.2_Silent_p.V331V|HP_ENST00000570083.1_Silent_p.V331V|HPR_ENST00000561690.1_5'Flank|HP_ENST00000565574.1_Silent_p.V331V|HPR_ENST00000540303.2_5'Flank	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	390	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)	antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		GTGTGTATGTGAAGGTGACTT	0.522																																						uc002fbr.3		NaN																	0					0						c.(1168-1170)GTG>GTA		haptoglobin isoform 1 preproprotein							202.0	192.0	195.0					16																	72094738		2080	4230	6310	SO:0001819	synonymous_variant	3240				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72094738G>A		CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017			5141	protein-coding gene	gene with protein product		140100				11109501, 9352226	Standard	NM_005143		Approved		uc002fbr.4	P00738		ENST00000355906.5:c.1170G>A	16.37:g.72094738G>A						TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.2_Silent_p.V331V|HP_uc002fbt.3_Silent_p.V331V|HP_uc002fbu.1_Silent_p.V128V|HP_uc002fbv.3_Silent_p.V301V|HP_uc002fbw.3_Silent_p.V212V|HP_uc002fbx.3_Silent_p.V212V|HPR_uc002fby.2_5'Flank	p.V390V	NM_005143	NP_005134	P00738	HPT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)	7	1214	+		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)	390			Peptidase S1.		B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Silent	SNP	ENST00000355906.5	37	c.1170G>A	CCDS45524.1																																																																																				0.522	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421680.1		NM_005143		37	131	0	0	0	1	0	37	131		
ZFHX3	463	broad.mit.edu	37	16	72828402	72828402	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:72828402C>A	ENST00000268489.5	-	9	8851	c.8179G>T	c.(8179-8181)Gag>Tag	p.E2727*	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.E1813*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2727					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)			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)				ATATGAGCCTCAAGAGCAGTC	0.562																																						uc002fck.2		NaN																	0				ovary(2)|skin(2)	4						c.(8179-8181)GAG>TAG		zinc finger homeobox 3 isoform A							70.0	61.0	64.0					16																	72828402		2198	4300	6498	SO:0001587	stop_gained	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.chr16:72828402C>A	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.8179G>T	16.37:g.72828402C>A	ENSP00000268489:p.Glu2727*					ZFHX3_uc002fcl.2_Nonsense_Mutation_p.E1813*	p.E2727*	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			9	8852	-		Ovarian(137;0.13)	2727			C2H2-type 20.		D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP	ENST00000268489.5	37	c.8179G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	52	18.747977	0.99910	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	.	.	.	5.77	5.77	0.91146	.	0.000000	0.50627	D	0.000118	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.9832	0.97338	0.0:1.0:0.0:0.0	.	.	.	.	X	2727;1813	.	ENSP00000268489:E2727X	E	-	1	0	ZFHX3	71385903	1.000000	0.71417	0.964000	0.40570	0.943000	0.58893	7.818000	0.86416	2.722000	0.93159	0.655000	0.94253	GAG		0.562	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1		NM_006885		26	87	1	0	9.90768e-06	1	1.01352e-05	26	87		
CNTNAP4	85445	broad.mit.edu	37	16	76587302	76587302	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:76587302G>A	ENST00000476707.1	+	21	3713	c.3574G>A	c.(3574-3576)Gac>Aac	p.D1192N	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.D1116N|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.D1140N|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.D1188N|RP11-58C22.1_ENST00000563764.1_5'Flank|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1189	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAGCCACCCAGACCCTGTCAC	0.607																																						uc002feu.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(3565-3567)GAC>AAC		cell recognition protein CASPR4 isoform 1							44.0	47.0	46.0					16																	76587302		2090	4232	6322	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76587302G>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3574G>A	16.37:g.76587302G>A	ENSP00000417628:p.Asp1192Asn					CNTNAP4_uc002fev.1_Missense_Mutation_p.D1053N|CNTNAP4_uc010chb.1_Missense_Mutation_p.D1116N|CNTNAP4_uc002fex.1_Missense_Mutation_p.D1192N	p.D1189N	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			24	3950	+			1189			Extracellular (Potential).|Laminin G-like 4.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.3565G>A		.	.	.	.	.	.	.	.	.	.	G	9.172	1.021323	0.19433	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.87966	-2.18;-2.27;-2.27;-2.32	5.44	5.44	0.79542	Laminin G domain (1);	0.174362	0.27327	N	0.019865	T	0.80939	0.4720	.	.	.	0.20196	N	0.99992	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.70124	-0.4958	9	0.52906	T	0.07	.	10.8962	0.47023	0.0:0.1398:0.7154:0.1448	.	1116;1192;1189	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	N	1188;1140;1116;1192	ENSP00000306893:D1188N;ENSP00000439733:D1140N;ENSP00000418741:D1116N;ENSP00000417628:D1192N	ENSP00000306893:D1188N	D	+	1	0	CNTNAP4	75144803	0.998000	0.40836	0.028000	0.17463	0.070000	0.16714	2.565000	0.45939	2.832000	0.97577	0.655000	0.94253	GAC		0.607	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1		NM_033401		7	23	0	0	0	1	0	7	23		
ADAMTS18	170692	broad.mit.edu	37	16	77353980	77353980	+	Silent	SNP	C	C	T	rs149346461		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:77353980C>T	ENST00000282849.5	-	16	2716	c.2298G>A	c.(2296-2298)ccG>ccA	p.P766P		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	766	Spacer.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGAGGACCACCGGATAATATT	0.473													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17001	0.0		0.0	False		,,,				2504	0.0					uc002ffc.3		NaN																	0				large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(2296-2298)CCG>CCA		ADAM metallopeptidase with thrombospondin type 1		C		21,4375	28.1+/-56.4	0,21,2177	44.0	51.0	49.0		2298	-11.1	0.0	16	dbSNP_134	49	0,8600		0,0,4300	no	coding-synonymous	ADAMTS18	NM_199355.2		0,21,6477	TT,TC,CC		0.0,0.4777,0.1616		766/1222	77353980	21,12975	2198	4300	6498	SO:0001819	synonymous_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77353980C>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2298G>A	16.37:g.77353980C>T						ADAMTS18_uc010chc.1_Silent_p.P354P|ADAMTS18_uc002ffe.1_Silent_p.P462P	p.P766P	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			16	2717	-			766			Spacer.		Q6P4R5|Q6ZWJ9	Silent	SNP	ENST00000282849.5	37	c.2298G>A	CCDS10926.1																																																																																				0.473	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1				6	67	0	0	0	1	0	6	67		
MAF	4094	broad.mit.edu	37	16	79633490	79633490	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:79633490C>T	ENST00000393350.1	-	1	1121	c.310G>A	c.(310-312)Gag>Aag	p.E104K	MAF_ENST00000326043.4_Missense_Mutation_p.E104K|MAF_ENST00000569649.1_Missense_Mutation_p.E104K	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	104					cell development (GO:0048468)|cytokine production (GO:0001816)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of chondrocyte differentiation (GO:0032330)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		CCCAGCGCCTCGGGGTTCAGC	0.706			T	IGH@	MM																																	uc002ffn.2		NaN		Dom	yes		16	16q22-q23	4094	T	v-maf musculoaponeurotic fibrosarcoma oncogene homolog			L	IGH@		MM		0				lung(1)	1						c.(310-312)GAG>AAG		v-maf musculoaponeurotic fibrosarcoma oncogene							8.0	9.0	9.0					16																	79633490		1912	3860	5772	SO:0001583	missense	4094				transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:79633490C>T		CCDS10928.1, CCDS42198.1	16q22-q23	2013-07-09	2013-07-09		ENSG00000178573	ENSG00000178573			6776	protein-coding gene	gene with protein product		177075				14998484	Standard	NM_005360		Approved	c-MAF	uc002ffm.3	O75444	OTTHUMG00000137621	ENST00000393350.1:c.310G>A	16.37:g.79633490C>T	ENSP00000377019:p.Glu104Lys					MAF_uc002ffm.2_Missense_Mutation_p.E104K	p.E104K	NM_001031804	NP_001026974	O75444	MAF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)	1	1133	-		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)	104					Q66I47|Q9UP93	Missense_Mutation	SNP	ENST00000393350.1	37	c.310G>A	CCDS42198.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909466	0.72868	.	.	ENSG00000178573	ENST00000326043;ENST00000393350	D;D	0.83163	-1.69;-1.69	3.69	3.69	0.42338	Maf transcription factor, N-terminal (1);	0.125816	0.52532	D	0.000068	D	0.87374	0.6161	L	0.60455	1.87	0.50171	D	0.999852	D;D	0.69078	0.997;0.997	P;P	0.59424	0.857;0.839	D	0.89243	0.3585	10	0.72032	D	0.01	-3.8047	15.4302	0.75087	0.0:1.0:0.0:0.0	.	104;104	O75444;O75444-1	MAF_HUMAN;.	K	104	ENSP00000327048:E104K;ENSP00000377019:E104K	ENSP00000327048:E104K	E	-	1	0	MAF	78190991	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.823000	0.75282	1.762000	0.52044	0.638000	0.83543	GAG		0.706	MAF-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317037.1				4	20	0	0	0	1	0	4	20		
C16orf46	123775	broad.mit.edu	37	16	81095596	81095596	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:81095596C>T	ENST00000299578.5	-	4	593	c.358G>A	c.(358-360)Gag>Aag	p.E120K	C16orf46_ENST00000378611.4_Missense_Mutation_p.E120K|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_5'UTR	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	120						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GGGCCCCCCTCAGTAGGAGGC	0.607																																						uc002fgc.3		NaN																	0					0						c.(358-360)GAG>AAG		chromosome 16 open reading frame 46 isoform 2							53.0	57.0	56.0					16																	81095596		2202	4298	6500	SO:0001583	missense	123775							g.chr16:81095596C>T	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.358G>A	16.37:g.81095596C>T	ENSP00000299578:p.Glu120Lys					C16orf46_uc010chf.2_Missense_Mutation_p.E120K|C16orf46_uc010vno.1_5'UTR	p.E120K	NM_152337	NP_689550	Q6P387	CP046_HUMAN			4	617	-			120					Q96MA7	Missense_Mutation	SNP	ENST00000299578.5	37	c.358G>A	CCDS10932.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709925	0.30322	.	.	ENSG00000166455	ENST00000378611;ENST00000299578	T;T	0.15487	2.42;2.42	4.97	4.97	0.65823	.	0.808003	0.11202	N	0.588718	T	0.21550	0.0519	L	0.46157	1.445	0.09310	N	1	P;P	0.50819	0.939;0.939	P;P	0.48063	0.565;0.565	T	0.09443	-1.0674	10	0.39692	T	0.17	.	9.4392	0.38657	0.0:0.9019:0.0:0.0981	.	120;120	Q6P387-2;Q6P387	.;CP046_HUMAN	K	120	ENSP00000367874:E120K;ENSP00000299578:E120K	ENSP00000299578:E120K	E	-	1	0	C16orf46	79653097	0.007000	0.16637	0.022000	0.16811	0.028000	0.11728	0.129000	0.15830	2.278000	0.76064	0.563000	0.77884	GAG		0.607	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2		NM_152337		44	155	0	0	0	1	0	44	155		
PKD1L2	114780	broad.mit.edu	37	16	81198281	81198281	+	RNA	SNP	G	G	A	rs376762417	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:81198281G>A	ENST00000525539.1	-	0	3312				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)			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						CCGCCCTCCAGAGAGCTGAGG	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		19374	0.002		0.0	False		,,,				2504	0.0					uc002fgh.1		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(3313-3315)CTG>TTG		polycystin 1-like 2 isoform a							62.0	72.0	69.0					16																	81198281		2128	4254	6382			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81198281G>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.81198281G>A						PKD1L2_uc002fgg.1_RNA	p.L1105L	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			20	3313	-			1105			REJ.|Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37	c.3313C>T																																																																																					0.582	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2				27	89	0	0	0	1	0	27	89		
MBTPS1	8720	broad.mit.edu	37	16	84129320	84129320	+	Missense_Mutation	SNP	G	G	C	rs575732938		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:84129320G>C	ENST00000343411.3	-	4	1007	c.512C>G	c.(511-513)tCt>tGt	p.S171C	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	171					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCAGAAGCCAGAGCCCAGGGA	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		17665	0.0		0.0	False		,,,				2504	0.001					uc002fhi.2		NaN																	0				ovary(2)	2						c.(511-513)TCT>TGT		membrane-bound transcription factor site-1							114.0	111.0	112.0					16																	84129320		2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84129320G>C	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.512C>G	16.37:g.84129320G>C	ENSP00000344223:p.Ser171Cys						p.S171C	NM_003791	NP_003782	Q14703	MBTP1_HUMAN			4	1014	-			171					A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.512C>G	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542131	0.85917	.	.	ENSG00000140943	ENST00000343411	T	0.34275	1.37	5.97	5.97	0.96955	.	0.052947	0.85682	D	0.000000	T	0.45397	0.1340	L	0.53249	1.67	0.80722	D	1	D	0.55800	0.973	P	0.46975	0.533	T	0.37454	-0.9705	10	0.59425	D	0.04	-24.1085	20.4387	0.99107	0.0:0.0:1.0:0.0	.	171	Q14703	MBTP1_HUMAN	C	171	ENSP00000344223:S171C	ENSP00000344223:S171C	S	-	2	0	MBTPS1	82686821	1.000000	0.71417	0.983000	0.44433	0.993000	0.82548	9.821000	0.99360	2.836000	0.97738	0.655000	0.94253	TCT		0.617	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2		NM_003791		32	128	0	0	0	1	0	32	128		
TAF1C	9013	broad.mit.edu	37	16	84215615	84215615	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:84215615C>T	ENST00000567759.1	-	8	953	c.771G>A	c.(769-771)ggG>ggA	p.G257G	TAF1C_ENST00000378541.4_Silent_p.G257G|TAF1C_ENST00000570117.1_5'UTR|TAF1C_ENST00000341690.6_Silent_p.G190G|TAF1C_ENST00000541676.1_Silent_p.G190G|TAF1C_ENST00000566732.1_Silent_p.G257G	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	257					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GTCCAGGTTTCCCAAGGAATT	0.547																																						uc002fhn.2		NaN																	0				ovary(1)	1						c.(769-771)GGG>GGA		TBP-associated factor 1C isoform 1							82.0	79.0	80.0					16																	84215615		2200	4300	6500	SO:0001819	synonymous_variant	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84215615C>T	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.771G>A	16.37:g.84215615C>T						TAF1C_uc002fhm.2_Silent_p.G190G|TAF1C_uc010vnx.1_Silent_p.G257G|TAF1C_uc010vny.1_5'UTR|TAF1C_uc010vnz.1_5'UTR|TAF1C_uc002fho.2_5'UTR|TAF1C_uc010voa.1_5'UTR|TAF1C_uc002fhp.1_RNA|TAF1C_uc010vob.1_Silent_p.G257G	p.G257G	NM_005679	NP_005670	Q15572	TAF1C_HUMAN			8	999	-			257					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Silent	SNP	ENST00000567759.1	37	c.771G>A	CCDS32496.1																																																																																				0.547	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2		NM_139353		39	119	0	0	0	1	0	39	119		
CRISPLD2	83716	broad.mit.edu	37	16	84883009	84883009	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:84883009C>T	ENST00000262424.5	+	4	602	c.378C>T	c.(376-378)ttC>ttT	p.F126F	CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000567845.1_Silent_p.F126F|CRISPLD2_ENST00000564567.1_Silent_p.F126F	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	126	SCP.				extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)			endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CTCCGGGGTTCCATGTGCAGT	0.637																																						uc010voh.1		NaN																	0					0						c.(376-378)TTC>TTT		cysteine-rich secretory protein LCCL domain							126.0	108.0	114.0					16																	84883009		2199	4300	6499	SO:0001819	synonymous_variant	83716					extracellular region|transport vesicle		g.chr16:84883009C>T	AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"""LCCL domain containing cysteine-rich secretory protein 2"""	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.378C>T	16.37:g.84883009C>T						CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fio.2_Silent_p.F126F|CRISPLD2_uc002fim.2_Silent_p.F126F|CRISPLD2_uc002fin.3_Silent_p.F126F	p.F126F	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN			4	605	+			126					D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Silent	SNP	ENST00000262424.5	37	c.378C>T	CCDS10949.1																																																																																				0.637	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2		NM_031476		13	59	0	0	0	1	0	13	59		
ZC3H18	124245	broad.mit.edu	37	16	88694373	88694373	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:88694373G>C	ENST00000301011.5	+	15	2515	c.2315G>C	c.(2314-2316)aGg>aCg	p.R772T	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R796T	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	772						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AAGCGGAAAAGGGATTCGTCC	0.547																																					Ovarian(121;375 2276 20373 38669)	uc002fky.2		NaN																	0				skin(1)	1						c.(2314-2316)AGG>ACG		zinc finger CCCH-type containing 18							67.0	82.0	77.0					16																	88694373		2198	4300	6498	SO:0001583	missense	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88694373G>C	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.2315G>C	16.37:g.88694373G>C	ENSP00000301011:p.Arg772Thr					ZC3H18_uc010voz.1_Missense_Mutation_p.R796T|ZC3H18_uc010chw.2_Intron|ZC3H18_uc002fkz.2_Missense_Mutation_p.R42T	p.R772T	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	15	2515	+			772					Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.2315G>C	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.105136	0.56291	.	.	ENSG00000158545	ENST00000301011;ENST00000452588	T;T	0.31510	1.52;1.49	4.88	3.92	0.45320	.	0.199784	0.50627	D	0.000105	T	0.46870	0.1415	L	0.54323	1.7	0.34180	D	0.670832	D;D	0.67145	0.996;0.996	D;D	0.77557	0.99;0.99	T	0.55995	-0.8052	10	0.22706	T	0.39	-21.8535	13.032	0.58847	0.0787:0.0:0.9213:0.0	.	796;772	E7ERS3;Q86VM9	.;ZCH18_HUMAN	T	772;796	ENSP00000301011:R772T;ENSP00000416951:R796T	ENSP00000301011:R772T	R	+	2	0	ZC3H18	87221874	1.000000	0.71417	0.798000	0.32154	0.516000	0.34256	4.706000	0.61845	1.049000	0.40321	0.491000	0.48974	AGG		0.547	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1		NM_144604		35	96	0	0	0	1	0	35	96		
TRAPPC2L	51693	broad.mit.edu	37	16	88926377	88926377	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:88926377C>G	ENST00000301021.3	+	4	436	c.371C>G	c.(370-372)tCc>tGc	p.S124C	TRAPPC2L_ENST00000561840.1_Missense_Mutation_p.S114C|TRAPPC2L_ENST00000565504.1_Missense_Mutation_p.S124C|TRAPPC2L_ENST00000568583.1_Missense_Mutation_p.S124C|TRAPPC2L_ENST00000567895.1_Missense_Mutation_p.S94C|TRAPPC2L_ENST00000567312.1_Missense_Mutation_p.S94C|TRAPPC2L_ENST00000564365.1_Missense_Mutation_p.S43C|GALNS_ENST00000568311.1_5'Flank			Q9UL33	TPC2L_HUMAN	trafficking protein particle complex 2-like	124					ER to Golgi vesicle-mediated transport (GO:0006888)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				lung(4)|pancreas(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CGCATCCAGTCCAGGTGGGCC	0.502																																						uc002fmc.2		NaN																	0					0						c.(370-372)TCC>TGC		trafficking protein particle complex 2-like							122.0	118.0	119.0					16																	88926377		2198	4300	6498	SO:0001583	missense	51693				ER to Golgi vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm		g.chr16:88926377C>G	BC011369	CCDS10971.1	16q24.3	2008-02-05			ENSG00000167515	ENSG00000167515			30887	protein-coding gene	gene with protein product		610970				11042152	Standard	NM_016209		Approved	HSPC176	uc002fmc.3	Q9UL33	OTTHUMG00000137861	ENST00000301021.3:c.371C>G	16.37:g.88926377C>G	ENSP00000301021:p.Ser124Cys					TRAPPC2L_uc010cie.2_RNA|TRAPPC2L_uc002fmd.3_Missense_Mutation_p.S124C|TRAPPC2L_uc002fme.3_Missense_Mutation_p.S94C|TRAPPC2L_uc002fmf.2_Missense_Mutation_p.S93C|uc002fmg.2_5'Flank	p.S124C	NM_016209	NP_057293	Q9UL33	TPC2L_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	4	424	+			124					B2R4M9|Q6ZTA7|Q9NZZ4	Missense_Mutation	SNP	ENST00000301021.3	37	c.371C>G	CCDS10971.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580619	0.65992	.	.	ENSG00000167515	ENST00000301021	D	0.85171	-1.95	4.46	4.46	0.54185	Longin-like (1);	0.000000	0.85682	D	0.000000	D	0.85544	0.5721	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.991;0.993	D	0.88209	0.2889	10	0.66056	D	0.02	-38.6816	15.2469	0.73511	0.0:1.0:0.0:0.0	.	124;124	Q9UL33-2;Q9UL33	.;TPC2L_HUMAN	C	124	ENSP00000301021:S124C	ENSP00000301021:S124C	S	+	2	0	TRAPPC2L	87453878	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	5.659000	0.68010	2.197000	0.70478	0.561000	0.74099	TCC		0.502	TRAPPC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269542.1		NM_016209		36	79	0	0	0	1	0	36	79		
VPS9D1	9605	broad.mit.edu	37	16	89777028	89777028	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:89777028C>T	ENST00000389386.3	-	10	1348	c.1224G>A	c.(1222-1224)ctG>ctA	p.L408L	VPS9D1_ENST00000561976.1_Silent_p.L338L|VPS9D1_ENST00000565452.1_5'Flank|VPS9D1-AS1_ENST00000562866.1_RNA	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	408					ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										CCGCGGTCTTCAGCTGCTGCA	0.657																																						uc002fom.1		NaN																	0					0						c.(1222-1224)CTG>CTA		chromosome 16 open reading frame 7							20.0	25.0	23.0					16																	89777028		2030	4174	6204	SO:0001819	synonymous_variant	9605				ATP synthesis coupled proton transport		GTPase activator activity|transporter activity	g.chr16:89777028C>T	AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 7"""	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.1224G>A	16.37:g.89777028C>T						C16orf7_uc002fol.1_Silent_p.L338L|uc002fon.1_5'Flank	p.L408L	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	10	1349	-		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	408						Silent	SNP	ENST00000389386.3	37	c.1224G>A	CCDS42220.1																																																																																				0.657	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422508.1		NM_004913		15	40	0	0	0	1	0	15	40		
GAS8	2622	broad.mit.edu	37	16	90106743	90106743	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:90106743C>T	ENST00000268699.4	+	9	1169	c.1047C>T	c.(1045-1047)ttC>ttT	p.F349F	GAS8_ENST00000536122.1_Silent_p.F324F|GAS8_ENST00000540721.1_3'UTR|URAHP_ENST00000517889.1_RNA	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	349					cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		ATCGGAAGTTCACCGCAGCCA	0.622																																						uc002fqi.1		NaN																	0				ovary(1)	1						c.(1045-1047)TTC>TTT		growth arrest-specific 8							61.0	45.0	50.0					16																	90106743		2194	4299	6493	SO:0001819	synonymous_variant	2622				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding	g.chr16:90106743C>T	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.1047C>T	16.37:g.90106743C>T						GAS8_uc010vps.1_Silent_p.F324F|GAS8_uc002fqh.2_Silent_p.F266F|GAS8_uc010vpv.1_Silent_p.F320F|GAS8_uc010cjc.1_Silent_p.F266F|GAS8_uc010vpw.1_Silent_p.F266F|GAS8_uc002fqj.1_Silent_p.F157F|LOC100130015_uc002fql.2_3'UTR|uc002fqm.1_5'Flank	p.F349F	NM_001481	NP_001472	O95995	GAS8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.029)	9	1169	+		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	349			Potential.		B2RCT1|B7Z4U1|G3V1L5|Q2M234	Silent	SNP	ENST00000268699.4	37	c.1047C>T	CCDS10992.1																																																																																				0.622	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2				4	15	0	0	0	1	0	4	15		
YWHAE	7531	broad.mit.edu	37	17	1257622	1257622	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:1257622C>G	ENST00000264335.8	-	5	865	c.598G>C	c.(598-600)Gat>Cat	p.D200H	YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000571732.1_Missense_Mutation_p.D178H	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	200					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		ATTGCATCATCAAAAGCTGCT	0.353			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																															uc002fsj.2		NaN		Dom	yes		17	17p13.3	7531		"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"""	yes		M					0				lung(2)|ovary(1)	3						c.(598-600)GAT>CAT		tyrosine 3/tryptophan 5 -monooxygenase							99.0	79.0	86.0					17																	1257622		2203	4300	6503	SO:0001583	missense	7531				apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding	g.chr17:1257622C>G	U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"""14-3-3 epsilon"""	605066	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"""			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.598G>C	17.37:g.1257622C>G	ENSP00000264335:p.Asp200His					YWHAE_uc002fsk.2_Missense_Mutation_p.D178H|YWHAE_uc010vqh.1_RNA|YWHAE_uc010vqi.1_RNA	p.D200H	NM_006761	NP_006752	P62258	1433E_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)	5	750	-			200					B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Missense_Mutation	SNP	ENST00000264335.8	37	c.598G>C	CCDS11001.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102883	0.37145	.	.	ENSG00000108953	ENST00000264335;ENST00000414131	T	0.55413	0.52	5.51	5.51	0.81932	14-3-3 domain (4);	0.058889	0.64402	U	0.000004	T	0.78935	0.4362	H	0.97390	3.995	0.80722	D	1	D	0.55172	0.97	P	0.54889	0.763	D	0.86758	0.1965	10	0.87932	D	0	-33.9056	16.9304	0.86189	0.0:1.0:0.0:0.0	.	200	P62258	1433E_HUMAN	H	200;178	ENSP00000264335:D200H	ENSP00000264335:D200H	D	-	1	0	YWHAE	1204372	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.662000	0.83803	2.580000	0.87095	0.650000	0.86243	GAT		0.353	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3		NM_006761		13	29	0	0	0	1	0	13	29		
SLC43A2	124935	broad.mit.edu	37	17	1478943	1478943	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:1478943G>C	ENST00000301335.5	-	14	1753	c.1665C>G	c.(1663-1665)ctC>ctG	p.L555L	SLC43A2_ENST00000571650.1_Silent_p.L559L|SLC43A2_ENST00000412517.3_Silent_p.L418L|SLC43A2_ENST00000382147.4_Silent_p.L559L	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	555					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		TTTTGAGGAAGAGTTTGTCAT	0.617																																						uc002fsv.2		NaN																	0					0						c.(1663-1665)CTC>CTG		solute carrier family 43, member 2							72.0	66.0	68.0					17																	1478943		2203	4300	6503	SO:0001819	synonymous_variant	124935				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chr17:1478943G>C	BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"""Solute carriers"""	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.1665C>G	17.37:g.1478943G>C						SLC43A2_uc002fsu.2_Silent_p.L559L	p.L555L	NM_152346	NP_689559	Q8N370	LAT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)	14	1754	-			555					B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Silent	SNP	ENST00000301335.5	37	c.1665C>G	CCDS11006.1																																																																																				0.617	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4		NM_152346		8	33	0	0	0	1	0	8	33		
WDR81	124997	broad.mit.edu	37	17	1639411	1639411	+	Missense_Mutation	SNP	G	G	A	rs377276139		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:1639411G>A	ENST00000409644.1	+	9	5404	c.5404G>A	c.(5404-5406)Gtg>Atg	p.V1802M	WDR81_ENST00000437219.2_Missense_Mutation_p.V599M|WDR81_ENST00000419248.1_Missense_Mutation_p.V575M|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Missense_Mutation_p.V433M|WDR81_ENST00000446363.1_Missense_Mutation_p.V441M|WDR81_ENST00000309182.5_Missense_Mutation_p.V751M	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1802					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCGTAGTGTCGTGGCCGGCTT	0.667																																						uc002fti.2		NaN																	0				skin(1)	1						c.(1723-1725)GTG>ATG		WD repeat domain 81 isoform 4		G	MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	61.0	58.0	59.0		1795,5404,1723,2251	4.7	0.9	17	dbSNP_134	59	0,8594		0,0,4297	no	missense,missense,missense,missense	WDR81	NM_001163673.1,NM_001163809.1,NM_001163811.1,NM_152348.3	21,21,21,21	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	599/739,1802/1942,575/715,751/891	1639411	1,12999	2203	4297	6500	SO:0001583	missense	124997							g.chr17:1639411G>A	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.5404G>A	17.37:g.1639411G>A	ENSP00000386609:p.Val1802Met					WDR81_uc002fth.2_Missense_Mutation_p.V751M|WDR81_uc010vqp.1_Missense_Mutation_p.V599M|WDR81_uc002ftj.2_Missense_Mutation_p.V1802M|WDR81_uc010vqq.1_Missense_Mutation_p.V433M	p.V575M	NM_001163811	NP_001157283	Q562E7	WDR81_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	9	1984	+			575					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	c.1723G>A	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903685	0.33628	2.27E-4	0.0	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000409644;ENST00000354680;ENST00000545662	T;T;T;T;T;T	0.01516	4.81;4.81;4.81;4.81;4.81;4.81	5.67	4.71	0.59529	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.199742	0.32147	U	0.006511	T	0.02848	0.0085	M	0.76170	2.325	0.39847	D	0.973198	P;P;P	0.39404	0.487;0.672;0.476	B;B;B	0.27887	0.023;0.084;0.084	T	0.46091	-0.9216	10	0.62326	D	0.03	.	12.5666	0.56314	0.1383:0.0:0.8617:0.0	.	433;599;751	B7Z6V3;B7Z579;Q562E7	.;.;WDR81_HUMAN	M	599;751;441;575;1802;553;433	ENSP00000391074:V599M;ENSP00000312074:V751M;ENSP00000401560:V441M;ENSP00000407845:V575M;ENSP00000386609:V1802M;ENSP00000442726:V433M	ENSP00000312074:V751M	V	+	1	0	WDR81	1586161	1.000000	0.71417	0.875000	0.34327	0.194000	0.23727	3.892000	0.56235	1.407000	0.46875	0.561000	0.74099	GTG		0.667	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2		NM_152348		28	68	0	0	0	1	0	28	68		
WDR81	124997	broad.mit.edu	37	17	1640893	1640893	+	Missense_Mutation	SNP	G	G	A	rs542042190		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:1640893G>A	ENST00000409644.1	+	10	5740	c.5740G>A	c.(5740-5742)Ggc>Agc	p.G1914S	WDR81_ENST00000437219.2_Missense_Mutation_p.G711S|WDR81_ENST00000419248.1_Missense_Mutation_p.G687S|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Missense_Mutation_p.G545S|WDR81_ENST00000446363.1_Missense_Mutation_p.G553S|WDR81_ENST00000309182.5_Missense_Mutation_p.G863S	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1914					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GAACTTCCGCGGCACGCTCAC	0.632																																						uc002fti.2		NaN																	0				skin(1)	1						c.(2059-2061)GGC>AGC		WD repeat domain 81 isoform 4							110.0	76.0	87.0					17																	1640893		2202	4299	6501	SO:0001583	missense	124997							g.chr17:1640893G>A	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.5740G>A	17.37:g.1640893G>A	ENSP00000386609:p.Gly1914Ser					WDR81_uc002fth.2_Missense_Mutation_p.G863S|WDR81_uc010vqp.1_Missense_Mutation_p.G711S|WDR81_uc002ftj.2_Missense_Mutation_p.G1914S|WDR81_uc010vqq.1_Missense_Mutation_p.G545S	p.G687S	NM_001163811	NP_001157283	Q562E7	WDR81_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	10	2320	+			687					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	c.2059G>A	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	G	36	5.819901	0.96989	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000409644;ENST00000354680;ENST00000545662	T;T;T;T;T;T	0.01388	4.95;4.95;4.95;4.95;4.95;4.95	4.86	4.86	0.63082	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	U	0.000006	T	0.09555	0.0235	M	0.80183	2.485	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	0.03887	-1.0995	10	0.46703	T	0.11	.	17.9903	0.89166	0.0:0.0:1.0:0.0	.	545;711;863	B7Z6V3;B7Z579;Q562E7	.;.;WDR81_HUMAN	S	711;863;553;687;1914;665;545	ENSP00000391074:G711S;ENSP00000312074:G863S;ENSP00000401560:G553S;ENSP00000407845:G687S;ENSP00000386609:G1914S;ENSP00000442726:G545S	ENSP00000312074:G863S	G	+	1	0	WDR81	1587643	1.000000	0.71417	0.987000	0.45799	0.976000	0.68499	9.731000	0.98807	2.244000	0.73946	0.650000	0.86243	GGC		0.632	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2		NM_152348		23	64	0	0	0	1	0	23	64		
PAFAH1B1	5048	broad.mit.edu	37	17	2575996	2575996	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:2575996C>T	ENST00000397195.5	+	7	1067	c.616C>T	c.(616-618)Cat>Tat	p.H206Y	PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.H35Y|PAFAH1B1_ENST00000572915.2_3'UTR	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						CAATGGAGATCATATAGTGTC	0.408																																						uc002fuw.3		NaN																	0				skin(1)	1						c.(616-618)CAT>TAT		platelet-activating factor acetylhydrolase,							119.0	105.0	110.0					17																	2575996		2203	4300	6503	SO:0001583	missense	5048				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity	g.chr17:2575996C>T	L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.616C>T	17.37:g.2575996C>T	ENSP00000380378:p.His206Tyr					PAFAH1B1_uc010ckb.1_RNA|PAFAH1B1_uc010vqz.1_Missense_Mutation_p.H35Y	p.H206Y	NM_000430	NP_000421	P43034	LIS1_HUMAN			7	1184	+			206			WD 3.|Interaction with dynein and dynactin.			Missense_Mutation	SNP	ENST00000397195.5	37	c.616C>T	CCDS32528.1	.	.	.	.	.	.	.	.	.	.	C	7.971	0.748991	0.15710	.	.	ENSG00000007168	ENST00000397195;ENST00000397193;ENST00000451360	T;T	0.57595	0.39;0.39	5.06	5.06	0.68205	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.35856	0.0946	N	0.17764	0.52	0.80722	D	1	B;B	0.14012	0.005;0.009	B;B	0.12837	0.008;0.007	T	0.25950	-1.0117	10	0.02654	T	1	.	17.7675	0.88482	0.0:1.0:0.0:0.0	.	35;206	B4DF38;P43034	.;LIS1_HUMAN	Y	206;35;35	ENSP00000380378:H206Y;ENSP00000395628:H35Y	ENSP00000380377:H35Y	H	+	1	0	PAFAH1B1	2522746	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.735000	0.84939	2.500000	0.84329	0.563000	0.77884	CAT		0.408	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2		NM_000430		17	50	0	0	0	1	0	17	50		
ZZEF1	23140	broad.mit.edu	37	17	3926119	3926119	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:3926119G>A	ENST00000381638.2	-	44	7220	c.7096C>T	c.(7096-7098)Cac>Tac	p.H2366Y		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2366							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TCAAAACCGTGAGCCTGCCAA	0.453																																						uc002fxe.2		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(7096-7098)CAC>TAC		zinc finger, ZZ type with EF hand domain 1							73.0	65.0	68.0					17																	3926119		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3926119G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.7096C>T	17.37:g.3926119G>A	ENSP00000371051:p.His2366Tyr					ZZEF1_uc002fxh.2_Missense_Mutation_p.H680Y|ZZEF1_uc002fxi.2_Missense_Mutation_p.H601Y	p.H2366Y	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			44	7160	-			2366					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.7096C>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420913	0.83559	.	.	ENSG00000074755	ENST00000381638	T	0.22539	1.95	5.96	4.98	0.66077	.	0.049865	0.85682	D	0.000000	T	0.25494	0.0620	L	0.32530	0.975	0.80722	D	1	D	0.62365	0.991	P	0.48873	0.593	T	0.02484	-1.1152	10	0.72032	D	0.01	-10.0741	16.7305	0.85433	0.0:0.0:0.87:0.13	.	2366	O43149	ZZEF1_HUMAN	Y	2366	ENSP00000371051:H2366Y	ENSP00000371051:H2366Y	H	-	1	0	ZZEF1	3872868	1.000000	0.71417	0.993000	0.49108	0.964000	0.63967	6.261000	0.72509	1.501000	0.48654	0.655000	0.94253	CAC		0.453	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1		NM_015113		13	53	0	0	0	1	0	13	53		
ZZEF1	23140	broad.mit.edu	37	17	3945848	3945848	+	Missense_Mutation	SNP	C	C	G	rs199848774		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:3945848C>G	ENST00000381638.2	-	39	6305	c.6181G>C	c.(6181-6183)Gaa>Caa	p.E2061Q		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2061							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GATGACACTTCTGAATCTTCA	0.448													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15430	0.0		0.0	False		,,,				2504	0.0					uc002fxe.2		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(6181-6183)GAA>CAA		zinc finger, ZZ type with EF hand domain 1							108.0	102.0	104.0					17																	3945848		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3945848C>G	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.6181G>C	17.37:g.3945848C>G	ENSP00000371051:p.Glu2061Gln					ZZEF1_uc002fxh.2_Missense_Mutation_p.E375Q|ZZEF1_uc002fxi.2_Missense_Mutation_p.E296Q|ZZEF1_uc002fxj.1_Missense_Mutation_p.E674Q	p.E2061Q	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			39	6245	-			2061					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.6181G>C	CCDS11043.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	8.862	0.947212	0.18356	.	.	ENSG00000074755	ENST00000381638	T	0.21031	2.03	5.07	4.03	0.46877	.	0.761637	0.12908	N	0.429227	T	0.14614	0.0353	N	0.14661	0.345	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.08055	0.003;0.001	T	0.12630	-1.0540	10	0.49607	T	0.09	-2.2756	14.3916	0.66983	0.0:0.8517:0.1483:0.0	.	2061;2061	O43149-2;O43149	.;ZZEF1_HUMAN	Q	2061	ENSP00000371051:E2061Q	ENSP00000371051:E2061Q	E	-	1	0	ZZEF1	3892597	0.071000	0.21146	0.078000	0.20375	0.010000	0.07245	3.539000	0.53604	2.522000	0.85027	0.591000	0.81541	GAA		0.448	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1		NM_015113		22	63	0	0	0	1	0	22	63		
PELP1	27043	broad.mit.edu	37	17	4574817	4574817	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:4574817C>T	ENST00000574876.1	-	17	3327	c.3310G>A	c.(3310-3312)Gac>Aac	p.D1104N	PELP1_ENST00000572293.1_Missense_Mutation_p.D1154N|PELP1_ENST00000436683.2_Missense_Mutation_p.D880N|PELP1_ENST00000301396.4_Missense_Mutation_p.D1248N|PELP1_ENST00000269230.7_Missense_Mutation_p.D1014N			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	1104					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GCAGCTGTGTCATCCTGCTCC	0.512																																						uc002fyi.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3310-3312)GAC>AAC		proline, glutamic acid and leucine rich protein							68.0	70.0	69.0					17																	4574817		2131	4250	6381	SO:0001583	missense	27043				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding	g.chr17:4574817C>T		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.3310G>A	17.37:g.4574817C>T	ENSP00000461625:p.Asp1104Asn					PELP1_uc010vsf.1_Missense_Mutation_p.D880N	p.D1104N	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN			17	3536	-			1104					O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	ENST00000574876.1	37	c.3310G>A	CCDS58503.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422802	0.62733	.	.	ENSG00000141456	ENST00000301396;ENST00000269230;ENST00000436683	T;T;D	0.97041	0.04;-0.04;-4.22	4.74	3.77	0.43336	.	0.211650	0.39475	N	0.001346	D	0.96685	0.8918	L	0.32530	0.975	0.33179	D	0.549284	B;D	0.63880	0.0;0.993	B;D	0.74674	0.001;0.984	D	0.97669	1.0165	10	0.87932	D	0	-16.2003	10.8036	0.46504	0.0:0.9072:0.0:0.0928	.	880;1104	E7EV54;Q8IZL8	.;PELP1_HUMAN	N	1248;1014;880	ENSP00000301396:D1248N;ENSP00000269230:D1014N;ENSP00000416231:D880N	ENSP00000269230:D1014N	D	-	1	0	AC091153.1	4521566	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.758000	0.68776	1.207000	0.43291	0.561000	0.74099	GAC		0.512	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2		NM_014389		7	33	0	0	0	1	0	7	33		
INCA1	388324	broad.mit.edu	37	17	4891776	4891776	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:4891776G>A	ENST00000574617.1	-	8	990	c.635C>T	c.(634-636)tCg>tTg	p.S212L	INCA1_ENST00000576820.1_Missense_Mutation_p.S212L|CAMTA2_ENST00000572543.1_5'Flank|CAMTA2_ENST00000414043.3_5'Flank|INCA1_ENST00000575780.1_Missense_Mutation_p.S197L|CAMTA2_ENST00000348066.3_5'Flank|CAMTA2_ENST00000358183.4_5'Flank|RP5-1050D4.4_ENST00000575985.1_RNA|CAMTA2_ENST00000361571.5_5'Flank|CAMTA2_ENST00000381311.5_5'Flank|RP5-1050D4.5_ENST00000574260.1_RNA|INCA1_ENST00000396829.2_Missense_Mutation_p.S212L|INCA1_ENST00000355025.3_Missense_Mutation_p.S197L			Q0VD86	INCA1_HUMAN	inhibitor of CDK, cyclin A1 interacting protein 1	212					negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)			upper_aerodigestive_tract(1)	1						AGTGCTGAACGAGGCCAGAGA	0.567																																						uc002gaj.2		NaN																	0					0						c.(634-636)TCG>TTG		inhibitor of CDK, cyclin A1 interacting protein							66.0	61.0	63.0					17																	4891776		2203	4300	6503	SO:0001583	missense	388324					nucleus		g.chr17:4891776G>A	AY601906, AAT09152	CCDS11064.1, CCDS54074.1	17p13.2	2010-03-19	2009-04-20		ENSG00000196388	ENSG00000196388			32224	protein-coding gene	gene with protein product						15159402, 18756329	Standard	NM_213726		Approved		uc002gak.3	Q0VD86		ENST00000574617.1:c.635C>T	17.37:g.4891776G>A	ENSP00000458316:p.Ser212Leu					CAMTA2_uc010cku.1_5'Flank|CAMTA2_uc002gag.1_5'Flank|CAMTA2_uc002gah.1_5'Flank|CAMTA2_uc002gai.1_5'Flank|CAMTA2_uc010vsu.1_5'Flank|INCA1_uc002gak.2_Missense_Mutation_p.S212L|INCA1_uc002gal.2_Missense_Mutation_p.S197L|INCA1_uc002gam.2_Missense_Mutation_p.S197L	p.S212L	NM_213726	NP_998891	Q0VD86	INCA1_HUMAN			8	1087	-			212					Q6J273|Q6PKN9	Missense_Mutation	SNP	ENST00000574617.1	37	c.635C>T	CCDS54074.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188990	0.78789	.	.	ENSG00000196388	ENST00000396829;ENST00000355025	.	.	.	4.36	2.38	0.29361	.	0.453907	0.16545	N	0.209724	T	0.17238	0.0414	L	0.32530	0.975	0.09310	N	1	P;P	0.42456	0.78;0.78	B;B	0.30782	0.12;0.12	T	0.13764	-1.0497	9	0.72032	D	0.01	-1.8931	6.8402	0.23959	0.208:0.0:0.792:0.0	.	197;212	Q0VD86-2;Q0VD86	.;INCA1_HUMAN	L	212;197	.	ENSP00000347129:S197L	S	-	2	0	INCA1	4832500	0.987000	0.35691	0.090000	0.20809	0.528000	0.34623	2.962000	0.49176	0.784000	0.33661	0.655000	0.94253	TCG		0.567	INCA1-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438886.1		NM_213726		26	74	0	0	0	1	0	26	74		
SLC13A5	284111	broad.mit.edu	37	17	6589554	6589554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:6589554C>T	ENST00000433363.2	-	12	1912	c.1679G>A	c.(1678-1680)tGg>tAg	p.W560*	SLC13A5_ENST00000293800.6_Nonsense_Mutation_p.W543*|SLC13A5_ENST00000573648.1_Nonsense_Mutation_p.W514*|SLC13A5_ENST00000381074.4_Nonsense_Mutation_p.W517*	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	560					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CACATTAGCCCAGTCAGGGAA	0.473																																						uc002gdj.2		NaN																	0					0						c.(1678-1680)TGG>TAG		solute carrier family 13, member 5 isoform a							205.0	182.0	190.0					17																	6589554		2203	4300	6503	SO:0001587	stop_gained	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6589554C>T	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.1679G>A	17.37:g.6589554C>T	ENSP00000406220:p.Trp560*					SLC13A5_uc010vtf.1_Nonsense_Mutation_p.W514*|SLC13A5_uc010clq.2_Nonsense_Mutation_p.W517*|SLC13A5_uc002gdk.2_Nonsense_Mutation_p.W543*	p.W560*	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN			12	1767	-			560					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Nonsense_Mutation	SNP	ENST00000433363.2	37	c.1679G>A	CCDS11079.1	.	.	.	.	.	.	.	.	.	.	C	37	6.477712	0.97598	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6189	0.84924	0.0:1.0:0.0:0.0	.	.	.	.	X	560;514;517	.	ENSP00000293800:W560X	W	-	2	0	SLC13A5	6530278	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.137000	0.77295	2.592000	0.87571	0.655000	0.94253	TGG		0.473	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2		NM_177550		36	126	0	0	0	1	0	36	126		
FBXO39	162517	broad.mit.edu	37	17	6683407	6683407	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:6683407G>A	ENST00000321535.4	+	2	350	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	74										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						ACATGCATCTGAAGTTGAGTC	0.463																																						uc010vtg.1		NaN																	0				ovary(1)|skin(1)	2						c.(220-222)GAA>AAA		F-box protein 39							140.0	133.0	135.0					17																	6683407		2203	4300	6503	SO:0001583	missense	162517							g.chr17:6683407G>A	BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"""F-boxes /  ""other"""""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.220G>A	17.37:g.6683407G>A	ENSP00000321386:p.Glu74Lys						p.E74K	NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN			2	340	+			74						Missense_Mutation	SNP	ENST00000321535.4	37	c.220G>A	CCDS11082.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718923	0.48622	.	.	ENSG00000177294	ENST00000321535	T	0.12569	2.67	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000003	T	0.22589	0.0545	L	0.29908	0.895	0.43863	D	0.996461	D	0.69078	0.997	D	0.73380	0.98	T	0.02307	-1.1179	10	0.10111	T	0.7	-18.8737	15.399	0.74823	0.0:0.0:1.0:0.0	.	74	Q8N4B4	FBX39_HUMAN	K	74	ENSP00000321386:E74K	ENSP00000321386:E74K	E	+	1	0	FBXO39	6624131	1.000000	0.71417	0.488000	0.27440	0.445000	0.32107	4.732000	0.62029	2.797000	0.96272	0.561000	0.74099	GAA		0.463	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2		NM_153230		34	112	0	0	0	1	0	34	112		
KCTD11	147040	broad.mit.edu	37	17	7256927	7256927	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:7256927C>G	ENST00000333751.3	+	1	1720	c.666C>G	c.(664-666)ctC>ctG	p.L222L	TMEM95_ENST00000330767.4_5'Flank|TMEM95_ENST00000389982.4_5'Flank|TMEM95_ENST00000576060.1_5'Flank|RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	222					cell cycle (GO:0007049)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)				kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				AAGACCTGCTCAACTCCAGGT	0.602																																						uc002gge.3		NaN																	0					0						c.(664-666)CTC>CTG		potassium channel tetramerisation domain							25.0	25.0	25.0					17																	7256927		2083	4185	6268	SO:0001819	synonymous_variant	147040				cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:7256927C>G	AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859			21302	protein-coding gene	gene with protein product		609848	"""chromosome 17 open reading frame 36"", ""potassium channel tetramerisation domain containing 11"""	C17orf36		12186855, 21472142	Standard	NM_001002914		Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.666C>G	17.37:g.7256927C>G						TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	p.L222L	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN			1	1720	+		Prostate(122;0.157)	222					B3KPE0	Silent	SNP	ENST00000333751.3	37	c.666C>G	CCDS32545.1																																																																																				0.602	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255084.2		NM_001002914		19	44	0	0	0	1	0	19	44		
KCTD11	147040	broad.mit.edu	37	17	7256940	7256940	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:7256940C>G	ENST00000333751.3	+	1	1733	c.679C>G	c.(679-681)Ctg>Gtg	p.L227V	TMEM95_ENST00000330767.4_5'Flank|TMEM95_ENST00000389982.4_5'Flank|TMEM95_ENST00000576060.1_5'Flank|RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	227					cell cycle (GO:0007049)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)				kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CTCCAGGTCTCTGCGCTTTGT	0.592																																						uc002gge.3		NaN																	0					0						c.(679-681)CTG>GTG		potassium channel tetramerisation domain							25.0	25.0	25.0					17																	7256940		2072	4138	6210	SO:0001583	missense	147040				cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:7256940C>G	AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859			21302	protein-coding gene	gene with protein product		609848	"""chromosome 17 open reading frame 36"", ""potassium channel tetramerisation domain containing 11"""	C17orf36		12186855, 21472142	Standard	NM_001002914		Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.679C>G	17.37:g.7256940C>G	ENSP00000328352:p.Leu227Val					TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	p.L227V	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN			1	1733	+		Prostate(122;0.157)	227					B3KPE0	Missense_Mutation	SNP	ENST00000333751.3	37	c.679C>G	CCDS32545.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661159	0.67700	.	.	ENSG00000213859	ENST00000333751	T	0.74526	-0.85	5.03	1.31	0.21738	.	0.000000	0.36101	U	0.002782	T	0.69967	0.3170	N	0.14661	0.345	0.31482	N	0.667025	D	0.76494	0.999	D	0.76071	0.987	T	0.69506	-0.5127	10	0.72032	D	0.01	.	6.4841	0.22079	0.0:0.6128:0.0:0.3872	.	227	Q693B1	KCD11_HUMAN	V	227	ENSP00000328352:L227V	ENSP00000328352:L227V	L	+	1	2	KCTD11	7197664	0.207000	0.23482	0.990000	0.47175	0.903000	0.53119	0.655000	0.24933	0.471000	0.27319	0.462000	0.41574	CTG		0.592	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255084.2		NM_001002914		18	42	0	0	0	1	0	18	42		
TMEM95	339168	broad.mit.edu	37	17	7258907	7258907	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:7258907G>A	ENST00000576060.1	+	2	199	c.172G>A	c.(172-174)Gag>Aag	p.E58K	TMEM95_ENST00000330767.4_Missense_Mutation_p.E58K|TMEM95_ENST00000389982.4_Missense_Mutation_p.E58K|RP11-542C16.1_ENST00000572417.1_RNA			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	58						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				CTCCACAGATGAGGTGTCCAT	0.547																																						uc002ggh.1		NaN																	0					0						c.(172-174)GAG>AAG		transmembrane protein 95							29.0	23.0	25.0					17																	7258907		2194	4280	6474	SO:0001583	missense	339168					integral to membrane		g.chr17:7258907G>A		CCDS32546.1	17p13.1	2005-12-15			ENSG00000182896	ENSG00000182896			27898	protein-coding gene	gene with protein product						12975309	Standard	NM_198154		Approved	MGC129793, UNQ9390	uc002ggf.1	Q3KNT9	OTTHUMG00000132899	ENST00000576060.1:c.172G>A	17.37:g.7258907G>A	ENSP00000460828:p.Glu58Lys					TMEM95_uc002ggf.1_Missense_Mutation_p.E58K|TMEM95_uc002ggg.1_Missense_Mutation_p.E58K	p.E58K	NM_198154	NP_937797	Q3KNT9	TMM95_HUMAN			2	199	+		Prostate(122;0.173)	58			Extracellular (Potential).		B7WPI7|Q6UXT3|Q8IW68	Missense_Mutation	SNP	ENST00000576060.1	37	c.172G>A		.	.	.	.	.	.	.	.	.	.	G	20.5	4.001640	0.74818	.	.	ENSG00000182896	ENST00000389982;ENST00000330767	.	.	.	4.7	4.7	0.59300	.	0.203527	0.24465	N	0.038287	T	0.45256	0.1333	N	0.19112	0.55	0.35742	D	0.818745	P;P;P	0.44139	0.728;0.827;0.728	B;P;B	0.46758	0.26;0.526;0.26	T	0.59862	-0.7374	9	0.72032	D	0.01	.	12.9876	0.58599	0.0:0.0:1.0:0.0	.	58;58;58	Q3KNT9;Q3KNT9-3;Q3KNT9-2	TMM95_HUMAN;.;.	K	58	.	ENSP00000331466:E58K	E	+	1	0	TMEM95	7199631	1.000000	0.71417	0.989000	0.46669	0.800000	0.45204	4.607000	0.61133	2.456000	0.83038	0.491000	0.48974	GAG		0.547	TMEM95-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440555.2		NM_198154		4	6	0	0	0	1	0	4	6		
DNAH2	146754	broad.mit.edu	37	17	7700820	7700820	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:7700820C>T	ENST00000572933.1	+	52	9512	c.8052C>T	c.(8050-8052)ctC>ctT	p.L2684L	DNAH2_ENST00000389173.2_Silent_p.L2684L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2684					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTCATCATCTCTGTCCCAGCA	0.532																																						uc002giu.1		NaN																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(8050-8052)CTC>CTT		dynein heavy chain domain 3							138.0	140.0	139.0					17																	7700820		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7700820C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8052C>T	17.37:g.7700820C>T							p.L2684L	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			51	8066	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2684					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.8052C>T	CCDS32551.1																																																																																				0.532	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1		NM_020877		47	183	0	0	0	1	0	47	183		
DNAH2	146754	broad.mit.edu	37	17	7733673	7733673	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:7733673C>T	ENST00000572933.1	+	78	13369	c.11909C>T	c.(11908-11910)tCc>tTc	p.S3970F	DNAH2_ENST00000389173.2_Missense_Mutation_p.S3970F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3970	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCACAGTTTTCCCGCTGCTCC	0.463																																						uc002giu.1		NaN																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(11908-11910)TCC>TTC		dynein heavy chain domain 3							101.0	99.0	100.0					17																	7733673		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7733673C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.11909C>T	17.37:g.7733673C>T	ENSP00000458355:p.Ser3970Phe					DNAH2_uc010cnm.1_Missense_Mutation_p.S908F	p.S3970F	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			77	11923	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3970			AAA 6 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.11909C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463810	0.26335	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.08984	3.03	5.55	5.55	0.83447	Dynein heavy chain (1);	0.894423	0.09859	N	0.746482	T	0.14356	0.0347	M	0.64997	1.995	0.39121	D	0.961654	B;B	0.15719	0.011;0.014	B;B	0.21546	0.021;0.035	T	0.04065	-1.0980	10	0.54805	T	0.06	.	14.0697	0.64852	0.0:0.8489:0.1511:0.0	.	3931;3970	Q9P225-2;Q9P225	.;DYH2_HUMAN	F	3931;3970	ENSP00000373825:S3970F	ENSP00000353818:S3931F	S	+	2	0	DNAH2	7674398	0.000000	0.05858	0.994000	0.49952	0.859000	0.49053	0.257000	0.18369	2.894000	0.99253	0.655000	0.94253	TCC		0.463	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1		NM_020877		21	97	0	0	0	1	0	21	97		
CYB5D1	124637	broad.mit.edu	37	17	7762898	7762898	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:7762898C>G	ENST00000332439.4	+	4	807	c.655C>G	c.(655-657)Ctg>Gtg	p.L219V	LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000570555.1_Intron|LSMD1_ENST00000575208.1_5'Flank|LSMD1_ENST00000575071.1_5'Flank|LSMD1_ENST00000335155.5_5'Flank|LSMD1_ENST00000576384.1_5'Flank|LSMD1_ENST00000333775.5_5'Flank|CYB5D1_ENST00000570446.1_Missense_Mutation_p.L91V|CYB5D1_ENST00000571846.1_3'UTR|LSMD1_ENST00000575771.1_5'Flank	NM_144607.4	NP_653208.2	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	219							heme binding (GO:0020037)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6		all_cancers(10;0.11)|Prostate(122;0.219)				TGCAATACTTCTGTACTTCAA	0.448																																						uc002gjb.3		NaN																	0				skin(1)	1						c.(655-657)CTG>GTG		cytochrome b5 domain containing 1							160.0	139.0	146.0					17																	7762898		2203	4300	6503	SO:0001583	missense	124637						heme binding	g.chr17:7762898C>G	AK057061	CCDS11123.1	17p13.1	2006-01-12	2006-01-12						26516	protein-coding gene	gene with protein product						12477932	Standard	NM_144607		Approved	FLJ32499	uc002gjb.4	Q6P9G0		ENST00000332439.4:c.655C>G	17.37:g.7762898C>G	ENSP00000331479:p.Leu219Val					LSMD1_uc002giz.2_5'Flank|LSMD1_uc002gja.2_5'Flank|CYB5D1_uc010cnn.1_3'UTR	p.L219V	NM_144607	NP_653208	Q6P9G0	CB5D1_HUMAN			4	1044	+		all_cancers(10;0.11)|Prostate(122;0.219)	219					D3DTQ8|Q96DM7	Missense_Mutation	SNP	ENST00000332439.4	37	c.655C>G	CCDS11123.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342754	0.82022	.	.	ENSG00000182224	ENST00000332439	T	0.50813	0.73	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000001	T	0.48059	0.1479	M	0.64997	1.995	0.80722	D	1	P	0.43826	0.818	B	0.39299	0.296	T	0.50725	-0.8794	10	0.38643	T	0.18	-1.3489	17.6524	0.88168	0.0:1.0:0.0:0.0	.	219	Q6P9G0	CB5D1_HUMAN	V	219	ENSP00000331479:L219V	ENSP00000331479:L219V	L	+	1	2	CYB5D1	7703623	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.206000	0.77891	2.449000	0.82847	0.462000	0.41574	CTG		0.448	CYB5D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440841.1		NM_144607		30	80	0	0	0	1	0	30	80		
ARHGEF15	22899	broad.mit.edu	37	17	8222686	8222686	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:8222686C>T	ENST00000361926.3	+	14	2353	c.2243C>T	c.(2242-2244)tCc>tTc	p.S748F	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Missense_Mutation_p.S748F	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	748					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CTTCCCTGCTCCCCAGACACC	0.552																																						uc002glc.2		NaN																	0				ovary(2)|skin(1)	3						c.(2242-2244)TCC>TTC		Rho guanine exchange factor 15							84.0	94.0	91.0					17																	8222686		2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8222686C>T	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.2243C>T	17.37:g.8222686C>T	ENSP00000355026:p.Ser748Phe					ARHGEF15_uc002gld.2_Missense_Mutation_p.S748F|ARHGEF15_uc010vuw.1_Missense_Mutation_p.S637F	p.S748F	NM_173728	NP_776089	O94989	ARHGF_HUMAN			14	2364	+			748					A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.2243C>T	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	c	12.05	1.820850	0.32237	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	T;T	0.71103	-0.54;-0.54	5.48	4.49	0.54785	.	0.618503	0.18106	N	0.151526	T	0.75057	0.3798	L	0.42245	1.32	0.33884	D	0.636463	D;D	0.67145	0.996;0.996	P;P	0.59546	0.859;0.859	T	0.81756	-0.0787	10	0.59425	D	0.04	-20.1006	12.0221	0.53350	0.0:0.8268:0.1732:0.0	.	748;748	D3DTR7;O94989	.;ARHGF_HUMAN	F	748;538;748	ENSP00000355026:S748F;ENSP00000412505:S748F	ENSP00000355026:S748F	S	+	2	0	ARHGEF15	8163411	0.453000	0.25721	0.961000	0.40146	0.286000	0.27126	1.956000	0.40382	1.498000	0.48600	0.655000	0.94253	TCC		0.552	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2		NM_173728		62	178	0	0	0	1	0	62	178		
PIK3R5	23533	broad.mit.edu	37	17	8814740	8814740	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:8814740G>A	ENST00000447110.1	-	2	196	c.72C>T	c.(70-72)ctC>ctT	p.L24L	PIK3R5_ENST00000581552.1_Silent_p.L24L|PIK3R5_ENST00000584803.1_Silent_p.L24L	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	24					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGCTGAGGCTGAGTCCATGCA	0.672																																					NSCLC(18;589 615 7696 20311 50332)	uc002glt.2		NaN																	0				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(70-72)CTC>CTT		phosphoinositide-3-kinase, regulatory subunit 5							55.0	48.0	50.0					17																	8814740		2203	4299	6502	SO:0001819	synonymous_variant	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8814740G>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.72C>T	17.37:g.8814740G>A						PIK3R5_uc010vuz.1_Silent_p.L24L|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Silent_p.L24L|PIK3R5_uc010cob.1_Intron	p.L24L	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN			2	139	-			24					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	c.72C>T	CCDS11147.1																																																																																				0.672	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2		NM_014308		20	67	0	0	0	1	0	20	67		
NTN1	9423	broad.mit.edu	37	17	8926117	8926117	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:8926117G>A	ENST00000173229.2	+	2	534	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	NTN1_ENST00000538852.1_Missense_Mutation_p.E143K|NTN1_ENST00000546090.1_Missense_Mutation_p.E143K	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	143	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)			NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CAAGAAGTTCGAAGTGACCTA	0.607																																						uc002glw.3		NaN																	0					0						c.(427-429)GAA>AAA		netrin 1 precursor							30.0	20.0	24.0					17																	8926117		2182	4269	6451	SO:0001583	missense	9423				apoptosis|axon guidance		protein binding	g.chr17:8926117G>A	U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"""Netrins"""	8029	protein-coding gene	gene with protein product	"""Netrin-1"""	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.427G>A	17.37:g.8926117G>A	ENSP00000173229:p.Glu143Lys						p.E143K	NM_004822	NP_004813	O95631	NET1_HUMAN			2	534	+			143			Laminin N-terminal.		E9KL51	Missense_Mutation	SNP	ENST00000173229.2	37	c.427G>A	CCDS11148.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906203	0.92107	.	.	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090	T;T;T	0.75367	-0.93;-0.93;-0.93	5.02	5.02	0.67125	Laminin, N-terminal (3);	0.051697	0.85682	D	0.000000	D	0.90508	0.7026	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93275	0.6655	10	0.66056	D	0.02	.	17.9404	0.89025	0.0:0.0:1.0:0.0	.	143	O95631	NET1_HUMAN	K	143	ENSP00000173229:E143K;ENSP00000443259:E143K;ENSP00000441611:E143K	ENSP00000173229:E143K	E	+	1	0	NTN1	8866842	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.733000	0.98818	2.335000	0.79485	0.650000	0.86243	GAA		0.607	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252583.1				7	30	0	0	0	1	0	7	30		
MAP2K4	6416	broad.mit.edu	37	17	12032537	12032537	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:12032537C>A	ENST00000353533.5	+	9	1036	c.973C>A	c.(973-975)Cct>Act	p.P325T	MAP2K4_ENST00000415385.3_Missense_Mutation_p.P336T	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	325	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GAAAGGAGATCCTCCGCAGCT	0.433			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	uc002gnj.2		NaN		Rec	yes		17	17p11.2	6416	D|Mis|N	mitogen-activated protein kinase kinase 4			E			pancreatic|breast|colorectal		11	Whole gene deletion(10)|Unknown(1)	p.?(1)	ovary(4)|breast(4)|biliary_tract(1)|lung(1)|pancreas(1)	large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1)	58						c.(973-975)CCT>ACT		mitogen-activated protein kinase kinase 4							104.0	96.0	99.0					17																	12032537		2203	4300	6503	SO:0001583	missense	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:12032537C>A	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.973C>A	17.37:g.12032537C>A	ENSP00000262445:p.Pro325Thr					MAP2K4_uc002gnk.2_Missense_Mutation_p.P336T|MAP2K4_uc010vvi.1_Missense_Mutation_p.P207T|MAP2K4_uc010vvj.1_Missense_Mutation_p.P197T	p.P325T	NM_003010	NP_003001	P45985	MP2K4_HUMAN		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)	9	1042	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	325			Protein kinase.		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	c.973C>A	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866922	0.91511	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.22134	1.97;1.97	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.39226	0.1070	L	0.45352	1.415	0.80722	D	1	D;D;D	0.67145	0.995;0.996;0.996	P;D;D	0.68039	0.898;0.924;0.955	T	0.09751	-1.0660	10	0.87932	D	0	.	17.8069	0.88604	0.0:1.0:0.0:0.0	.	197;336;325	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	T	325;336;302;197	ENSP00000262445:P325T;ENSP00000410402:P336T	ENSP00000262445:P325T	P	+	1	0	MAP2K4	11973262	1.000000	0.71417	0.990000	0.47175	0.999000	0.98932	7.597000	0.82733	2.805000	0.96524	0.655000	0.94253	CCT		0.433	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1				14	34	1	0	4.7546e-09	1	4.94748e-09	14	34		
COX10	1352	broad.mit.edu	37	17	13980182	13980182	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:13980182C>T	ENST00000261643.3	+	3	385	c.308C>T	c.(307-309)tCa>tTa	p.S103L	COX10_ENST00000429152.2_Missense_Mutation_p.S103L|COX10_ENST00000536205.1_5'UTR|COX10_ENST00000537334.1_Intron	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	103					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		AGACCTCTCTCACCGCCCAGC	0.428																																						uc002gof.3		NaN																	0					0						c.(307-309)TCA>TTA		heme A:farnesyltransferase precursor							88.0	82.0	84.0					17																	13980182		2203	4300	6503	SO:0001583	missense	1352				heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity	g.chr17:13980182C>T	U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.308C>T	17.37:g.13980182C>T	ENSP00000261643:p.Ser103Leu					COX10_uc010vvs.1_Intron|COX10_uc010vvt.1_5'UTR	p.S103L	NM_001303	NP_001294	Q12887	COX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)	3	512	+		all_lung(20;0.06)|Lung SC(565;0.168)	103					B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	ENST00000261643.3	37	c.308C>T	CCDS11166.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886971	0.33348	.	.	ENSG00000006695	ENST00000261643	T	0.46063	0.88	5.35	2.31	0.28768	.	1.261880	0.05155	N	0.496747	T	0.38825	0.1055	L	0.50333	1.59	0.09310	N	0.999998	B	0.09022	0.002	B	0.06405	0.002	T	0.27468	-1.0073	10	0.25751	T	0.34	.	9.0891	0.36598	0.0:0.7737:0.0:0.2263	.	103	Q12887	COX10_HUMAN	L	103	ENSP00000261643:S103L	ENSP00000261643:S103L	S	+	2	0	COX10	13920907	0.072000	0.21174	0.000000	0.03702	0.182000	0.23217	1.923000	0.40055	0.342000	0.23796	0.655000	0.94253	TCA		0.428	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1		NM_001303		11	61	0	0	0	1	0	11	61		
CCDC144A	9720	broad.mit.edu	37	17	16612513	16612513	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:16612513C>T	ENST00000360524.8	+	5	1218	c.1142C>T	c.(1141-1143)tCt>tTt	p.S381F	RN7SL620P_ENST00000580704.1_RNA|CCDC144A_ENST00000340621.5_Missense_Mutation_p.S380F|CCDC144A_ENST00000443444.2_Missense_Mutation_p.S381F|CCDC144A_ENST00000456009.1_Intron|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.S381F|CCDC144A_ENST00000399273.1_Missense_Mutation_p.S381F	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	381																	CATCCATACTCTGGGTCCCAG	0.373																																						uc002gqk.1		NaN																	0					0						c.(1141-1143)TCT>TTT		coiled-coil domain containing 144A							119.0	109.0	112.0					17																	16612513		1840	4083	5923	SO:0001583	missense	9720							g.chr17:16612513C>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.1142C>T	17.37:g.16612513C>T	ENSP00000353717:p.Ser381Phe					CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank	p.S381F	NM_014695	NP_055510	A2RUR9	C144A_HUMAN			5	1218	+			381					O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	c.1142C>T	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	11.63	1.695742	0.30052	.	.	ENSG00000170160	ENST00000340621;ENST00000399273;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000360495	T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07	1.26	-1.25	0.09405	.	.	.	.	.	T	0.10208	0.0250	L	0.29908	0.895	0.18873	N	0.999987	D	0.54964	0.969	B	0.37989	0.262	T	0.20773	-1.0265	8	.	.	.	.	2.6535	0.05005	0.0:0.3143:0.2636:0.4221	.	381	A2RUR9	C144A_HUMAN	F	380;381;381;381;381;381	ENSP00000344740:S380F;ENSP00000382215:S381F;ENSP00000439262:S381F;ENSP00000440655:S381F;ENSP00000353717:S381F;ENSP00000353685:S381F	.	S	+	2	0	CCDC144A	16553238	0.000000	0.05858	0.228000	0.23943	0.099000	0.18886	0.051000	0.14141	-0.133000	0.11537	0.175000	0.17021	TCT		0.373	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1				16	58	0	0	0	1	0	16	58		
TOM1L2	146691	broad.mit.edu	37	17	17772713	17772713	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:17772713G>A	ENST00000379504.3	-	8	935	c.852C>T	c.(850-852)gtC>gtT	p.V284V	TOM1L2_ENST00000318094.10_Silent_p.V239V|TOM1L2_ENST00000542206.1_Silent_p.V136V|TOM1L2_ENST00000577517.1_5'UTR|TOM1L2_ENST00000395739.4_Silent_p.V239V|TOM1L2_ENST00000535933.1_Silent_p.V231V|TOM1L2_ENST00000581396.1_Silent_p.V234V|TOM1L2_ENST00000540946.1_Silent_p.V186V|TOM1L2_ENST00000478943.1_Silent_p.V17V	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	284	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					GCTCCTCGGTGACCTCCTCAT	0.527																																					Melanoma(192;2505 2909 14455 25269)	uc002grz.3		NaN																	0					0						c.(850-852)GTC>GTT		target of myb1-like 2 isoform 3							80.0	74.0	76.0					17																	17772713		2203	4300	6503	SO:0001819	synonymous_variant	146691				intracellular protein transport	intracellular		g.chr17:17772713G>A	AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"""target of myb1 (chicken) homolog-like 1"""			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.852C>T	17.37:g.17772713G>A						TOM1L2_uc002gry.3_Silent_p.V234V|TOM1L2_uc010vwy.1_Silent_p.V231V|TOM1L2_uc010cpr.2_Silent_p.V239V|TOM1L2_uc010vwz.1_Silent_p.V136V|TOM1L2_uc010vxa.1_Silent_p.V186V|TOM1L2_uc010vxb.1_Silent_p.V234V|TOM1L2_uc002grv.3_Silent_p.V17V	p.V284V	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN			8	1009	-	all_neural(463;0.228)		284			GAT.		B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Silent	SNP	ENST00000379504.3	37	c.852C>T	CCDS42270.1																																																																																				0.527	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1				20	70	0	0	0	1	0	20	70		
SHMT1	6470	broad.mit.edu	37	17	18232688	18232688	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:18232688G>C	ENST00000316694.3	-	11	1320	c.1186C>G	c.(1186-1188)Ctg>Gtg	p.L396V	SHMT1_ENST00000539052.1_Missense_Mutation_p.L258V|SHMT1_ENST00000352886.6_Missense_Mutation_p.L316V|SHMT1_ENST00000354098.3_Missense_Mutation_p.L357V	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	396					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.L396V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	CTGGGCCGCAGAGCGCTTCTG	0.512																																						uc002gta.2		NaN																	1	Substitution - Missense(1)		cervix(1)	ovary(1)	1						c.(1186-1188)CTG>GTG		serine hydroxymethyltransferase 1 (soluble)	Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						37.0	38.0	38.0					17																	18232688		2203	4300	6503	SO:0001583	missense	6470				carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr17:18232688G>C		CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"""cytoplasmic serine hydroxymethyltransferase"", ""14 kDa protein"""	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.1186C>G	17.37:g.18232688G>C	ENSP00000318868:p.Leu396Val					SHMT1_uc002gsz.2_Missense_Mutation_p.L171V|SHMT1_uc002gtb.2_Missense_Mutation_p.L357V|SHMT1_uc010cqb.2_Intron|SHMT1_uc010vxt.1_Missense_Mutation_p.L258V	p.L396V	NM_004169	NP_004160	P34896	GLYC_HUMAN			11	1376	-			396					B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Missense_Mutation	SNP	ENST00000316694.3	37	c.1186C>G	CCDS11196.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996845	0.35226	.	.	ENSG00000176974	ENST00000316694;ENST00000395684;ENST00000352886;ENST00000539052;ENST00000354098	T;T;T;T	0.52983	0.64;1.49;0.64;1.49	5.52	3.14	0.36123	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.49695	0.1572	L	0.60845	1.875	0.58432	D	0.999998	P;B	0.36483	0.555;0.045	P;B	0.46275	0.51;0.126	T	0.53365	-0.8449	10	0.72032	D	0.01	-15.0407	7.3541	0.26709	0.3578:0.0:0.6422:0.0	.	357;396	P34896-2;P34896	.;GLYC_HUMAN	V	396;171;316;258;357	ENSP00000318868:L396V;ENSP00000345881:L316V;ENSP00000440089:L258V;ENSP00000318805:L357V	ENSP00000318868:L396V	L	-	1	2	SHMT1	18173413	0.985000	0.35326	0.770000	0.31555	0.761000	0.43186	1.976000	0.40579	1.443000	0.47586	0.655000	0.94253	CTG		0.512	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130831.2		NM_004169		11	37	0	0	0	1	0	11	37		
VTN	7448	broad.mit.edu	37	17	26697287	26697287	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:26697287G>C	ENST00000226218.4	-	0	556				SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA|CTB-96E2.2_ENST00000555059.2_5'Flank|VTN_ENST00000536498.1_De_novo_Start_InFrame|VTN_ENST00000438614.1_5'Flank|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000457710.3_5'Flank	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin						cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	TCTCCGCTCTGATGCCTGAGG	0.597																																						uc002hbc.2		NaN																	0				ovary(1)|kidney(1)	2						c.(-64--60)ATCAG>ATGAG		vitronectin precursor	Urokinase(DB00013)						57.0	70.0	66.0					17																	26697287		692	1591	2283			7448				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity	g.chr17:26697287G>C	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"""Endogenous ligands"""	12724	protein-coding gene	gene with protein product	"""serum spreading factor"", ""somatomedin B"", ""complement S-protein"""	193190	"""vitronectin (serum spreading factor, somatomedin B, complement S-protein)"""			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.-63C>G	17.37:g.26697287G>C						SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_5'Flank|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank		NM_000638	NP_000629	P04004	VTNC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	1	87	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)							B2R7G0|P01141|Q9BSH7	Translation_Start_Site	SNP	ENST00000226218.4	37	c.-62C>G	CCDS11229.1																																																																																				0.597	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2		NM_000638		16	36	0	0	0	1	0	16	36		
CRYBA1	1411	broad.mit.edu	37	17	27579109	27579109	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:27579109C>T	ENST00000225387.3	+	4	244	c.243C>T	c.(241-243)ttC>ttT	p.F81F		NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	crystallin, beta A1	81	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ATACCAGCTTCTGTGGGCAAC	0.502											OREG0024293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002hdw.2		NaN																	0					0						c.(241-243)TTC>TTT		crystallin, beta A3							157.0	142.0	147.0					17																	27579109		2203	4300	6503	SO:0001819	synonymous_variant	1411				visual perception	soluble fraction	structural constituent of eye lens	g.chr17:27579109C>T		CCDS11249.1	17q11.2-q12	2008-07-18			ENSG00000108255	ENSG00000108255			2394	protein-coding gene	gene with protein product	"""eye lens structural protein"""	123610		CRYB1		3745196, 3770741	Standard	NM_005208		Approved		uc002hdw.3	P05813	OTTHUMG00000132729	ENST00000225387.3:c.243C>T	17.37:g.27579109C>T			OREG0024293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	795		p.F81F	NM_005208	NP_005199	P05813	CRBA1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		4	250	+			81			Beta/gamma crystallin 'Greek key' 2.		Q13633|Q14CM9	Silent	SNP	ENST00000225387.3	37	c.243C>T	CCDS11249.1																																																																																				0.502	CRYBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256071.2		NM_005208		28	95	0	0	0	1	0	28	95		
EFCAB5	374786	broad.mit.edu	37	17	28380803	28380803	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:28380803G>C	ENST00000394835.3	+	10	2023	c.1831G>C	c.(1831-1833)Gag>Cag	p.E611Q	EFCAB5_ENST00000320856.5_Missense_Mutation_p.E611Q|EFCAB5_ENST00000536908.2_Missense_Mutation_p.E555Q|EFCAB5_ENST00000394832.2_Missense_Mutation_p.E611Q|EFCAB5_ENST00000541045.1_Missense_Mutation_p.E268Q|EFCAB5_ENST00000378738.3_Missense_Mutation_p.E611Q	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	611							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GTCACGCAGAGAGTCTATTGC	0.478																																						uc002het.2		NaN																	0				ovary(1)|skin(1)	2						c.(1831-1833)GAG>CAG		EF-hand calcium binding domain 5 isoform a							250.0	239.0	243.0					17																	28380803		2113	4229	6342	SO:0001583	missense	374786						calcium ion binding	g.chr17:28380803G>C	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1831G>C	17.37:g.28380803G>C	ENSP00000378312:p.Glu611Gln					EFCAB5_uc010wbi.1_Missense_Mutation_p.E354Q|EFCAB5_uc010wbj.1_Missense_Mutation_p.E555Q|EFCAB5_uc010wbk.1_Missense_Mutation_p.E268Q|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Missense_Mutation_p.E490Q|EFCAB5_uc010csf.2_Missense_Mutation_p.E490Q	p.E611Q	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN			10	2023	+			611					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.1831G>C	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774533	0.49786	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.98	0.525	0.17072	.	2.061350	0.02366	N	0.077343	T	0.41351	0.1155	L	0.47716	1.5	0.09310	N	1	P;P;P;P;B;P	0.52316	0.704;0.804;0.454;0.804;0.145;0.952	B;B;B;B;B;P	0.47075	0.24;0.421;0.053;0.396;0.074;0.536	T	0.27262	-1.0079	10	0.19590	T	0.45	1.2902	6.3993	0.21630	0.2848:0.1217:0.5935:0.0	.	555;555;611;611;611;611	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	Q	555;354;268;611;611;611;611;555;417	ENSP00000440619:E555Q;ENSP00000445575:E268Q;ENSP00000378312:E611Q;ENSP00000322003:E611Q;ENSP00000378309:E611Q;ENSP00000368012:E611Q;ENSP00000417009:E417Q	ENSP00000322003:E611Q	E	+	1	0	EFCAB5	25404929	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.175000	0.16762	0.132000	0.18615	-0.140000	0.14226	GAG		0.478	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4		NM_198529		54	140	0	0	0	1	0	54	140		
AP2B1	163	broad.mit.edu	37	17	33977735	33977735	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:33977735C>T	ENST00000262325.7	+	13	2276	c.1723C>T	c.(1723-1725)Cat>Tat	p.H575Y	AP2B1_ENST00000537622.2_Missense_Mutation_p.H575Y|AP2B1_ENST00000538556.1_Missense_Mutation_p.H518Y|AP2B1_ENST00000592545.1_Missense_Mutation_p.H537Y|AP2B1_ENST00000312678.8_Missense_Mutation_p.H575Y|AP2B1_ENST00000589344.1_Missense_Mutation_p.H575Y|AP2B1_ENST00000545922.2_3'UTR	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	575					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CTCTGTGTATCATAAGCCTCC	0.463																																						uc002hjr.2		NaN																	0				ovary(1)	1						c.(1723-1725)CAT>TAT		adaptor-related protein complex 2, beta 1							177.0	153.0	161.0					17																	33977735		2203	4300	6503	SO:0001583	missense	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:33977735C>T	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1723C>T	17.37:g.33977735C>T	ENSP00000262325:p.His575Tyr					AP2B1_uc002hjq.2_Missense_Mutation_p.H575Y|AP2B1_uc010wci.1_Missense_Mutation_p.H537Y|AP2B1_uc002hjs.2_Missense_Mutation_p.H518Y|AP2B1_uc002hjt.2_Missense_Mutation_p.H575Y|AP2B1_uc010ctv.2_Missense_Mutation_p.H575Y|AP2B1_uc010wcj.1_Missense_Mutation_p.H312Y	p.H575Y	NM_001282	NP_001273	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	13	1912	+		Ovarian(249;0.17)	575					A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.1723C>T	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704865	0.88924	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	5.73	5.73	0.89815	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.35008	0.0917	L	0.53249	1.67	0.80722	D	1	D;B;P;P	0.76494	0.999;0.427;0.801;0.9	D;B;B;B	0.77557	0.99;0.168;0.256;0.391	T	0.00591	-1.1655	10	0.49607	T	0.09	-3.8244	18.8762	0.92337	0.0:1.0:0.0:0.0	.	312;537;575;575	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	Y	575;575;518;575;312	ENSP00000262325:H575Y;ENSP00000314414:H575Y;ENSP00000440563:H518Y;ENSP00000437413:H575Y	ENSP00000262325:H575Y	H	+	1	0	AP2B1	31001848	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.809000	0.86057	2.720000	0.93068	0.591000	0.81541	CAT		0.463	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1				46	106	0	0	0	1	0	46	106		
DDX52	11056	broad.mit.edu	37	17	36003428	36003428	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:36003428G>A	ENST00000349699.2	-	1	65	c.22C>T	c.(22-24)Cgc>Tgc	p.R8C	DDX52_ENST00000394367.3_5'UTR|RP11-697E22.2_ENST00000586163.1_RNA|RP11-697E22.2_ENST00000586950.1_RNA	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	8						membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				CCGAGCCGGCGAAAGAGATCG	0.637																																						uc002hoi.1		NaN																	0				ovary(1)|skin(1)	2						c.(22-24)CGC>TGC		ATP-dependent RNA helicase ROK1 isoform a							45.0	46.0	46.0					17																	36003428		2203	4300	6503	SO:0001583	missense	11056					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr17:36003428G>A	AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"""DEAD-boxes"""	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.22C>T	17.37:g.36003428G>A	ENSP00000268854:p.Arg8Cys					DDX52_uc002hoh.1_5'UTR|DDX52_uc002hoj.1_5'Flank	p.R8C	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN			1	60	-		Breast(25;0.00637)|Ovarian(249;0.15)	8					Q86YG1|Q8N213|Q9NVE0|Q9Y482	Missense_Mutation	SNP	ENST00000349699.2	37	c.22C>T	CCDS11323.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522059	0.85600	.	.	ENSG00000141141	ENST00000349699	T	0.18810	2.19	5.5	4.53	0.55603	.	1.579570	0.03037	N	0.152895	T	0.48003	0.1476	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.01436	-1.1355	10	0.87932	D	0	.	10.2102	0.43136	0.0889:0.0:0.9111:0.0	.	8	Q9Y2R4	DDX52_HUMAN	C	8	ENSP00000268854:R8C	ENSP00000268854:R8C	R	-	1	0	DDX52	33077541	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.200000	0.51051	1.556000	0.49512	0.655000	0.94253	CGC		0.637	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1		NM_152300		12	66	0	0	0	1	0	12	66		
GPR179	440435	broad.mit.edu	37	17	36484647	36484647	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:36484647C>G	ENST00000342292.4	-	11	4825	c.4805G>C	c.(4804-4806)aGa>aCa	p.R1602T	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1602					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCATTCCTCTCTTGTTCTTTC	0.498																																						uc002hpz.2		NaN																	0				ovary(3)	3						c.(4804-4806)AGA>ACA		GPR158-like 1 precursor							165.0	163.0	163.0					17																	36484647		1980	4173	6153	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36484647C>G		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.4805G>C	17.37:g.36484647C>G	ENSP00000345060:p.Arg1602Thr						p.R1602T	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	4826	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1602			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000342292.4	37	c.4805G>C	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	3.982	-0.006193	0.07773	.	.	ENSG00000188888	ENST00000342292	T	0.47177	0.85	3.26	-6.51	0.01878	.	1.387120	0.05299	N	0.522590	T	0.13798	0.0334	N	0.02142	-0.665	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12889	-1.0530	10	0.09338	T	0.73	1.2381	0.7655	0.01015	0.1905:0.2608:0.1665:0.3822	.	1602	Q6PRD1	GP179_HUMAN	T	1602	ENSP00000345060:R1602T	ENSP00000345060:R1602T	R	-	2	0	GPR179	33738173	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-0.968000	0.03817	-1.941000	0.01042	-1.263000	0.01449	AGA		0.498	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2				54	191	0	0	0	1	0	54	191		
GPR179	440435	broad.mit.edu	37	17	36485920	36485920	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:36485920C>G	ENST00000342292.4	-	11	3552	c.3532G>C	c.(3532-3534)Gac>Cac	p.D1178H	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1178					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTGCCTCTGTCTTCTTGTTCC	0.552																																						uc002hpz.2		NaN																	0				ovary(3)	3						c.(3532-3534)GAC>CAC		GPR158-like 1 precursor							200.0	206.0	204.0					17																	36485920		2137	4232	6369	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36485920C>G		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3532G>C	17.37:g.36485920C>G	ENSP00000345060:p.Asp1178His						p.D1178H	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	3553	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1178			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000342292.4	37	c.3532G>C	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965952	0.34659	.	.	ENSG00000188888	ENST00000342292	T	0.55760	0.5	4.78	3.81	0.43845	.	0.478540	0.19840	N	0.104870	T	0.38825	0.1055	L	0.27053	0.805	0.09310	N	1	P	0.49961	0.93	P	0.44518	0.452	T	0.14783	-1.0460	10	0.37606	T	0.19	-15.2566	7.2464	0.26124	0.0:0.8043:0.0:0.1957	.	1178	Q6PRD1	GP179_HUMAN	H	1178	ENSP00000345060:D1178H	ENSP00000345060:D1178H	D	-	1	0	GPR179	33739446	0.000000	0.05858	0.168000	0.22838	0.825000	0.46686	0.051000	0.14141	1.247000	0.43917	0.457000	0.33378	GAC		0.552	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2				73	248	0	0	0	1	0	73	248		
GPR179	440435	broad.mit.edu	37	17	36486038	36486038	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:36486038C>T	ENST00000342292.4	-	11	3434	c.3414G>A	c.(3412-3414)gtG>gtA	p.V1138V	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1138					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCTGCTTACTCACCGCCTTGG	0.632																																						uc002hpz.2		NaN																	0				ovary(3)	3						c.(3412-3414)GTG>GTA		GPR158-like 1 precursor							98.0	102.0	101.0					17																	36486038		2048	4197	6245	SO:0001819	synonymous_variant	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36486038C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3414G>A	17.37:g.36486038C>T							p.V1138V	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	3435	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1138			Cytoplasmic (Potential).			Silent	SNP	ENST00000342292.4	37	c.3414G>A	CCDS42308.1																																																																																				0.632	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2				37	126	0	0	0	1	0	37	126		
GPR179	440435	broad.mit.edu	37	17	36486125	36486125	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:36486125C>T	ENST00000342292.4	-	11	3347	c.3327G>A	c.(3325-3327)gaG>gaA	p.E1109E	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1109					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCTCGGGACTCTCCTCCACAC	0.652																																						uc002hpz.2		NaN																	0				ovary(3)	3						c.(3325-3327)GAG>GAA		GPR158-like 1 precursor							47.0	51.0	50.0					17																	36486125		1982	4148	6130	SO:0001819	synonymous_variant	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36486125C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3327G>A	17.37:g.36486125C>T							p.E1109E	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	3348	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1109			Cytoplasmic (Potential).			Silent	SNP	ENST00000342292.4	37	c.3327G>A	CCDS42308.1																																																																																				0.652	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2				20	63	0	0	0	1	0	20	63		
GPR179	440435	broad.mit.edu	37	17	36486274	36486274	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:36486274C>T	ENST00000342292.4	-	11	3198	c.3178G>A	c.(3178-3180)Gat>Aat	p.D1060N	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1060					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCGTCCACATCATTAGCTTCC	0.572																																						uc002hpz.2		NaN																	0				ovary(3)	3						c.(3178-3180)GAT>AAT		GPR158-like 1 precursor							73.0	79.0	77.0					17																	36486274		2094	4219	6313	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36486274C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3178G>A	17.37:g.36486274C>T	ENSP00000345060:p.Asp1060Asn						p.D1060N	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	3199	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1060			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000342292.4	37	c.3178G>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	8.122	0.781119	0.16120	.	.	ENSG00000188888	ENST00000342292	T	0.54071	0.59	5.38	3.4	0.38934	.	0.334721	0.25572	N	0.029752	T	0.36026	0.0952	N	0.24115	0.695	0.09310	N	1	B	0.15473	0.013	B	0.12156	0.007	T	0.22382	-1.0218	10	0.40728	T	0.16	-3.2732	9.3874	0.38352	0.0:0.8332:0.0:0.1668	.	1060	Q6PRD1	GP179_HUMAN	N	1060	ENSP00000345060:D1060N	ENSP00000345060:D1060N	D	-	1	0	GPR179	33739800	0.000000	0.05858	0.009000	0.14445	0.002000	0.02628	-0.653000	0.05360	0.835000	0.34877	0.462000	0.41574	GAT		0.572	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2				34	70	0	0	0	1	0	34	70		
GPR179	440435	broad.mit.edu	37	17	36486362	36486362	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:36486362C>A	ENST00000342292.4	-	11	3110	c.3090G>T	c.(3088-3090)tgG>tgT	p.W1030C	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1030					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AGAGGGCCCTCCAGAGCCTGG	0.602																																						uc002hpz.2		NaN																	0				ovary(3)	3						c.(3088-3090)TGG>TGT		GPR158-like 1 precursor							51.0	53.0	52.0					17																	36486362		1948	4151	6099	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36486362C>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3090G>T	17.37:g.36486362C>A	ENSP00000345060:p.Trp1030Cys						p.W1030C	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	3111	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1030			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000342292.4	37	c.3090G>T	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566682	0.45694	.	.	ENSG00000188888	ENST00000342292	T	0.57595	0.39	5.38	3.32	0.38043	.	0.260319	0.29624	N	0.011634	T	0.48187	0.1486	L	0.29908	0.895	0.51233	D	0.99991	D	0.65815	0.995	P	0.54270	0.747	T	0.47275	-0.9130	10	0.54805	T	0.06	-11.8464	6.9585	0.24583	0.1704:0.7413:0.0:0.0884	.	1030	Q6PRD1	GP179_HUMAN	C	1030	ENSP00000345060:W1030C	ENSP00000345060:W1030C	W	-	3	0	GPR179	33739888	0.076000	0.21285	0.998000	0.56505	0.820000	0.46376	1.478000	0.35442	1.518000	0.48934	0.462000	0.41574	TGG		0.602	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2				28	77	1	0	1.2476e-16	1	1.32012e-16	28	77		
MED1	5469	broad.mit.edu	37	17	37564794	37564794	+	Missense_Mutation	SNP	G	G	A	rs144178898		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:37564794G>A	ENST00000300651.6	-	17	3903	c.3680C>T	c.(3679-3681)tCa>tTa	p.S1227L	CTB-131K11.1_ENST00000582842.1_RNA|MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ACCAGAACCTGAACTGATAGG	0.507										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	uc002hrv.3		NaN																	0				lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8						c.(3679-3681)TCA>TTA		mediator complex subunit 1		G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	80.0	79.0	80.0		3680	5.3	1.0	17	dbSNP_134	80	0,8600		0,0,4300	no	missense	MED1	NM_004774.3	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	1227/1582	37564794	1,13005	2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37564794G>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3680C>T	17.37:g.37564794G>A	ENSP00000300651:p.Ser1227Leu	HNSCC(31;0.082)				MED1_uc010wee.1_Missense_Mutation_p.S1055L|MED1_uc002hru.2_Intron	p.S1227L	NM_004774	NP_004765	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	3892	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1227			Ser-rich.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.3680C>T	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818486	0.71028	2.27E-4	0.0	ENSG00000125686	ENST00000300651	T	0.58797	0.31	5.35	5.35	0.76521	.	.	.	.	.	T	0.63522	0.2518	N	0.19112	0.55	0.58432	D	0.999991	D	0.57899	0.981	D	0.69824	0.966	T	0.63559	-0.6610	9	0.45353	T	0.12	-8.6679	17.7814	0.88524	0.0:0.0:1.0:0.0	.	1227	Q15648	MED1_HUMAN	L	1227	ENSP00000300651:S1227L	ENSP00000300651:S1227L	S	-	2	0	MED1	34818320	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.186000	0.94906	2.941000	0.99782	0.655000	0.94253	TCA		0.507	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3		NM_004774		20	68	0	0	0	1	0	20	68		
CDC6	990	broad.mit.edu	37	17	38449865	38449865	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:38449865C>T	ENST00000209728.4	+	5	1289	c.818C>T	c.(817-819)gCa>gTa	p.A273V		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	273					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CATATGACTGCAGAGAAGGGC	0.428																																						uc002huj.1		NaN																	0				ovary(2)|breast(1)	3						c.(817-819)GCA>GTA		cell division cycle 6 protein							83.0	76.0	78.0					17																	38449865		2203	4300	6503	SO:0001583	missense	990				cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	g.chr17:38449865C>T	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.818C>T	17.37:g.38449865C>T	ENSP00000209728:p.Ala273Val						p.A273V	NM_001254	NP_001245	Q99741	CDC6_HUMAN			5	1028	+			273					Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	37	c.818C>T	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.376769	0.61735	.	.	ENSG00000094804	ENST00000209728	T	0.23348	1.91	6.17	4.19	0.49359	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.485311	0.21330	N	0.076302	T	0.29914	0.0748	M	0.73430	2.235	0.30935	N	0.726431	B	0.14805	0.011	B	0.14578	0.011	T	0.22487	-1.0215	10	0.35671	T	0.21	-13.1536	12.3016	0.54878	0.0:0.8599:0.0:0.1401	.	273	Q99741	CDC6_HUMAN	V	273	ENSP00000209728:A273V	ENSP00000209728:A273V	A	+	2	0	CDC6	35703391	0.086000	0.21541	0.951000	0.38953	0.993000	0.82548	0.716000	0.25836	1.631000	0.50456	0.655000	0.94253	GCA		0.428	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1				12	34	0	0	0	1	0	12	34		
KRT24	192666	broad.mit.edu	37	17	38859916	38859916	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:38859916G>A	ENST00000264651.2	-	1	86	c.30C>T	c.(28-30)tcC>tcT	p.S10S		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	10	Head.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CTCCAGCCCTGGAGGAGGAGG	0.607																																					GBM(61;380 1051 14702 23642 31441)	uc002hvd.2		NaN																	0					0						c.(28-30)TCC>TCT		keratin 24							29.0	29.0	29.0					17																	38859916		2200	4287	6487	SO:0001819	synonymous_variant	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38859916G>A		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.30C>T	17.37:g.38859916G>A							p.S10S	NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN			1	87	-		Breast(137;0.00526)	10			Head.		Q9NXG7	Silent	SNP	ENST00000264651.2	37	c.30C>T	CCDS11372.1																																																																																				0.607	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1		NM_019016		15	49	0	0	0	1	0	15	49		
KRTAP4-11	653240	broad.mit.edu	37	17	39274150	39274150	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:39274150T>A	ENST00000391413.2	-	1	456	c.418A>T	c.(418-420)Agc>Tgc	p.S140C		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	140	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.S140C(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ctggagatgctgcagctgggg	0.672																																						uc002hvz.2		NaN																	2	Substitution - Missense(2)		prostate(1)|kidney(1)		0						c.(418-420)AGC>TGC		keratin associated protein 4-11							8.0	13.0	12.0					17																	39274150		686	1587	2273	SO:0001583	missense	653240					keratin filament		g.chr17:39274150T>A	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.418A>T	17.37:g.39274150T>A	ENSP00000375232:p.Ser140Cys						p.S140C	NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	457	-		Breast(137;0.000496)	140			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.418A>T	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	6.114	0.389323	0.11581	.	.	ENSG00000212721	ENST00000391413	T	0.00832	5.64	3.95	-4.72	0.03269	.	.	.	.	.	T	0.00178	0.0005	N	0.00010	-3.035	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48139	-0.9061	9	0.02654	T	1	.	4.7994	0.13289	0.3484:0.2238:0.0:0.4278	.	140	Q9BYQ6	KR411_HUMAN	C	140	ENSP00000375232:S140C	ENSP00000375232:S140C	S	-	1	0	KRTAP4-11	36527676	0.000000	0.05858	0.000000	0.03702	0.829000	0.46940	0.038000	0.13862	-0.681000	0.05204	-0.924000	0.02725	AGC		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1				4	50	0	0	0	1	0	4	50		
ACLY	47	broad.mit.edu	37	17	40068700	40068700	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40068700C>T	ENST00000352035.2	-	3	385	c.255G>A	c.(253-255)ctG>ctA	p.L85L	ACLY_ENST00000353196.1_Silent_p.L85L|ACLY_ENST00000393896.2_Silent_p.L85L|ACLY_ENST00000590151.1_Silent_p.L85L|ACLY_ENST00000537919.1_Silent_p.L85L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	85	ATP-grasp.				ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GCCGTGGCTTCAGCCAGGACT	0.547																																					Colon(64;807 1396 15971 30971)	uc002hyg.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(253-255)CTG>CTA		ATP citrate lyase isoform 1							110.0	87.0	95.0					17																	40068700		2203	4300	6503	SO:0001819	synonymous_variant	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40068700C>T	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.255G>A	17.37:g.40068700C>T						ACLY_uc002hyh.2_Silent_p.L85L|ACLY_uc002hyi.2_Silent_p.L139L|ACLY_uc010wfx.1_Silent_p.L139L|ACLY_uc010wfy.1_Silent_p.L85L	p.L85L	NM_001096	NP_001087	P53396	ACLY_HUMAN			3	418	-		Breast(137;0.000143)	85					B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	37	c.255G>A	CCDS11412.1																																																																																				0.547	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1		NM_001096		25	109	0	0	0	1	0	25	109		
NKIRAS2	28511	broad.mit.edu	37	17	40175730	40175730	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40175730C>G	ENST00000307641.5	+	4	1016	c.395C>G	c.(394-396)cCa>cGa	p.P132R	NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.P132R|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.P76R|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.P170R|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.P130R|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.P132R|NKIRAS2_ENST00000462043.2_3'UTR|ZNF385C_ENST00000461831.1_5'Flank|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.P132R	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	132	Small GTPase-like.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				CGTGTAGACCCAGATGTGGCT	0.587																																						uc002hyq.2		NaN																	0				ovary(1)	1						c.(394-396)CCA>CGA		NFKB inhibitor interacting Ras-like 2 isoform a							113.0	99.0	104.0					17																	40175730		2203	4300	6503	SO:0001583	missense	28511				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	g.chr17:40175730C>G	AF229840	CCDS11415.1, CCDS45679.1, CCDS45680.1	17q21.31	2014-05-09	2004-05-20		ENSG00000168256	ENSG00000168256			17898	protein-coding gene	gene with protein product		604497	"""NFKB inhibitor interacting Ras-like protein 2"""			10657303	Standard	NM_001001349		Approved	KBRAS2, DKFZP434N1526, kappaB-Ras2	uc002hys.3	Q9NYR9	OTTHUMG00000133503	ENST00000307641.5:c.395C>G	17.37:g.40175730C>G	ENSP00000303580:p.Pro132Arg					NKIRAS2_uc010wgd.1_3'UTR|NKIRAS2_uc002hyr.2_Missense_Mutation_p.P132R|NKIRAS2_uc002hys.2_Missense_Mutation_p.P132R|NKIRAS2_uc010wge.1_Missense_Mutation_p.P76R|NKIRAS2_uc002hyt.2_Missense_Mutation_p.P132R	p.P132R	NM_001001349	NP_001001349	Q9NYR9	KBRS2_HUMAN			4	460	+		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)	132			Small GTPase-like.		A6NCZ5|B3KNN0|B4DNM3|Q6PK52|Q96KC7|Q9NSX1	Missense_Mutation	SNP	ENST00000307641.5	37	c.395C>G	CCDS11415.1	.	.	.	.	.	.	.	.	.	.	C	8.997	0.979198	0.18812	.	.	ENSG00000168256	ENST00000307641;ENST00000393884;ENST00000393880;ENST00000393881;ENST00000393885;ENST00000462043;ENST00000316082	T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	5.65	3.66	0.41972	Small GTP-binding protein domain (1);	0.485335	0.24347	N	0.039313	T	0.55065	0.1897	N	0.02736	-0.51	0.21325	N	0.999727	B;B	0.15473	0.013;0.0	B;B	0.10450	0.005;0.003	T	0.41556	-0.9502	10	0.19590	T	0.45	-15.8148	8.0101	0.30349	0.4275:0.4965:0.0:0.076	.	76;132	B4DNM3;Q9NYR9	.;KBRS2_HUMAN	R	132;130;132;132;132;76;170	ENSP00000303580:P132R;ENSP00000377462:P130R;ENSP00000377458:P132R;ENSP00000377459:P132R;ENSP00000377463:P132R;ENSP00000312773:P170R	ENSP00000303580:P132R	P	+	2	0	NKIRAS2	37429256	0.001000	0.12720	0.752000	0.31206	0.888000	0.51559	0.463000	0.21972	0.736000	0.32559	0.467000	0.42956	CCA		0.587	NKIRAS2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257457.1		NM_017595		14	87	0	0	0	1	0	14	87		
COASY	80347	broad.mit.edu	37	17	40716787	40716787	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40716787G>C	ENST00000393818.2	+	4	1564	c.1108G>C	c.(1108-1110)Ggg>Cgg	p.G370R	MLX_ENST00000435881.2_5'Flank|MLX_ENST00000346833.4_5'Flank|COASY_ENST00000590958.1_Missense_Mutation_p.G399R|RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000421097.2_Missense_Mutation_p.G370R|COASY_ENST00000449624.1_Missense_Mutation_p.G75R|COASY_ENST00000420359.1_Missense_Mutation_p.G370R|MLX_ENST00000246912.4_5'Flank	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	370	DPCK.				cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CAGTGGCTCTGGGAAGAGCTC	0.587																																						uc002hzz.2		NaN																	0					0						c.(1108-1110)GGG>CGG		coenzyme A synthase isoform a							87.0	92.0	90.0					17																	40716787		2203	4300	6503	SO:0001583	missense	80347				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	g.chr17:40716787G>C	AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.1108G>C	17.37:g.40716787G>C	ENSP00000377406:p.Gly370Arg					COASY_uc010cyj.2_Missense_Mutation_p.G399R|COASY_uc002iab.2_Missense_Mutation_p.G75R|COASY_uc002iad.2_Missense_Mutation_p.G370R|COASY_uc002iac.2_Missense_Mutation_p.G370R|COASY_uc002iae.2_Missense_Mutation_p.G165R|MLX_uc002iaf.2_5'Flank|MLX_uc002iag.2_5'Flank|MLX_uc002iah.2_5'Flank	p.G370R	NM_001042529	NP_001035994	Q13057	COASY_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	5	1265	+		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	370			DPCK.|ATP (Potential).		B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Missense_Mutation	SNP	ENST00000393818.2	37	c.1108G>C	CCDS11429.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808832	0.90707	.	.	ENSG00000068120	ENST00000421097;ENST00000449624;ENST00000420359;ENST00000393818	T;T;T;T	0.76316	0.61;-1.01;-1.01;-1.01	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.93242	0.7847	H	0.98738	4.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95671	0.8723	10	0.87932	D	0	-23.306	17.4925	0.87708	0.0:0.0:1.0:0.0	.	399;370	Q13057-2;Q13057	.;COASY_HUMAN	R	399;75;370;370	ENSP00000393564:G399R;ENSP00000407740:G75R;ENSP00000413338:G370R;ENSP00000377406:G370R	ENSP00000377406:G370R	G	+	1	0	COASY	37970313	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.176000	0.94839	2.722000	0.93159	0.655000	0.94253	GGG		0.587	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1		NM_025233		56	153	0	0	0	1	0	56	153		
CCR10	2826	broad.mit.edu	37	17	40831665	40831665	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40831665G>A	ENST00000332438.4	-	2	1014	c.995C>T	c.(994-996)tCa>tTa	p.S332L	CCR10_ENST00000591765.1_Missense_Mutation_p.S110L|PLEKHH3_ENST00000412503.1_5'Flank|PLEKHH3_ENST00000591022.1_5'Flank|CNTNAP1_ENST00000264638.4_5'Flank|CTD-3193K9.4_ENST00000593139.1_RNA|PLEKHH3_ENST00000293349.6_5'Flank	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	332					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TTGAGGCCCTGAGGGGCAGCT	0.711																																						uc002iax.3		NaN																	0					0						c.(994-996)TCA>TTA		CC chemokine receptor 10							9.0	11.0	10.0					17																	40831665		2154	4226	6380	SO:0001583	missense	2826					integral to plasma membrane		g.chr17:40831665G>A	AF215981	CCDS11435.1	17q21.1-q21.3	2012-08-08	2004-11-12	2004-11-12	ENSG00000184451	ENSG00000184451		"""GPCR / Class A : Chemokine receptors : C-C motif"""	4474	protein-coding gene	gene with protein product		600240	"""G protein-coupled receptor 2"""	GPR2		7851889	Standard	NM_016602		Approved		uc002iax.4	P46092	OTTHUMG00000132301	ENST00000332438.4:c.995C>T	17.37:g.40831665G>A	ENSP00000332504:p.Ser332Leu					PLEKHH3_uc002iau.2_5'Flank|PLEKHH3_uc002iav.2_5'Flank|PLEKHH3_uc010cym.1_5'Flank|PLEKHH3_uc002iaw.2_5'Flank|CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank	p.S332L	NM_016602	NP_057686	P46092	CCR10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	2	999	-		Breast(137;0.000153)	332			Cytoplasmic (Potential).		Q4V749|Q6T7X2|Q9NZG2	Missense_Mutation	SNP	ENST00000332438.4	37	c.995C>T	CCDS11435.1	.	.	.	.	.	.	.	.	.	.	G	8.667	0.901840	0.17760	.	.	ENSG00000184451	ENST00000332438	T	0.36878	1.23	4.22	3.18	0.36537	.	0.485129	0.15707	N	0.248604	T	0.18087	0.0434	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.09037	-1.0693	10	0.39692	T	0.17	.	8.6591	0.34081	0.0:0.0:0.6544:0.3456	.	332	P46092	CCR10_HUMAN	L	332	ENSP00000332504:S332L	ENSP00000332504:S332L	S	-	2	0	CCR10	38085191	0.002000	0.14202	0.348000	0.25681	0.009000	0.06853	1.142000	0.31540	2.185000	0.69588	0.313000	0.20887	TCA		0.711	CCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255406.1		NM_016602		12	49	0	0	0	1	0	12	49		
CCR10	2826	broad.mit.edu	37	17	40831709	40831709	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40831709G>A	ENST00000332438.4	-	2	970	c.951C>T	c.(949-951)ttC>ttT	p.F317F	CCR10_ENST00000591765.1_Silent_p.F95F|PLEKHH3_ENST00000412503.1_5'Flank|PLEKHH3_ENST00000591022.1_5'Flank|CNTNAP1_ENST00000264638.4_5'Flank|CTD-3193K9.4_ENST00000593139.1_RNA|PLEKHH3_ENST00000293349.6_5'Flank	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	317					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GGTCCTGGCGGAAGCGCAGGC	0.706																																						uc002iax.3		NaN																	0					0						c.(949-951)TTC>TTT		CC chemokine receptor 10							13.0	14.0	14.0					17																	40831709		2182	4258	6440	SO:0001819	synonymous_variant	2826					integral to plasma membrane		g.chr17:40831709G>A	AF215981	CCDS11435.1	17q21.1-q21.3	2012-08-08	2004-11-12	2004-11-12	ENSG00000184451	ENSG00000184451		"""GPCR / Class A : Chemokine receptors : C-C motif"""	4474	protein-coding gene	gene with protein product		600240	"""G protein-coupled receptor 2"""	GPR2		7851889	Standard	NM_016602		Approved		uc002iax.4	P46092	OTTHUMG00000132301	ENST00000332438.4:c.951C>T	17.37:g.40831709G>A						PLEKHH3_uc002iau.2_5'Flank|PLEKHH3_uc002iav.2_5'Flank|PLEKHH3_uc010cym.1_5'Flank|PLEKHH3_uc002iaw.2_5'Flank|CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank	p.F317F	NM_016602	NP_057686	P46092	CCR10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	2	955	-		Breast(137;0.000153)	317			Cytoplasmic (Potential).		Q4V749|Q6T7X2|Q9NZG2	Silent	SNP	ENST00000332438.4	37	c.951C>T	CCDS11435.1																																																																																				0.706	CCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255406.1		NM_016602		11	41	0	0	0	1	0	11	41		
CCR10	2826	broad.mit.edu	37	17	40831733	40831733	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40831733G>C	ENST00000332438.4	-	2	946	c.927C>G	c.(925-927)ctC>ctG	p.L309L	CCR10_ENST00000591765.1_Silent_p.L87L|PLEKHH3_ENST00000412503.1_5'Flank|PLEKHH3_ENST00000591022.1_5'Flank|CNTNAP1_ENST00000264638.4_5'Flank|CTD-3193K9.4_ENST00000593139.1_RNA|PLEKHH3_ENST00000293349.6_5'Flank	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	309					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GGAAGGCGTAGAGAACGGGAT	0.721																																						uc002iax.3		NaN																	0					0						c.(925-927)CTC>CTG		CC chemokine receptor 10							18.0	17.0	17.0					17																	40831733		2193	4279	6472	SO:0001819	synonymous_variant	2826					integral to plasma membrane		g.chr17:40831733G>C	AF215981	CCDS11435.1	17q21.1-q21.3	2012-08-08	2004-11-12	2004-11-12	ENSG00000184451	ENSG00000184451		"""GPCR / Class A : Chemokine receptors : C-C motif"""	4474	protein-coding gene	gene with protein product		600240	"""G protein-coupled receptor 2"""	GPR2		7851889	Standard	NM_016602		Approved		uc002iax.4	P46092	OTTHUMG00000132301	ENST00000332438.4:c.927C>G	17.37:g.40831733G>C						PLEKHH3_uc002iau.2_5'Flank|PLEKHH3_uc002iav.2_5'Flank|PLEKHH3_uc010cym.1_5'Flank|PLEKHH3_uc002iaw.2_5'Flank|CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank	p.L309L	NM_016602	NP_057686	P46092	CCR10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	2	931	-		Breast(137;0.000153)	309			Helical; Name=7; (Potential).		Q4V749|Q6T7X2|Q9NZG2	Silent	SNP	ENST00000332438.4	37	c.927C>G	CCDS11435.1																																																																																				0.721	CCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255406.1		NM_016602		5	40	0	0	0	1	0	5	40		
CCR10	2826	broad.mit.edu	37	17	40831760	40831760	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40831760G>A	ENST00000332438.4	-	2	919	c.900C>T	c.(898-900)ctC>ctT	p.L300L	CCR10_ENST00000591765.1_Silent_p.L78L|PLEKHH3_ENST00000412503.1_5'Flank|PLEKHH3_ENST00000591022.1_5'Flank|CNTNAP1_ENST00000264638.4_5'Flank|CTD-3193K9.4_ENST00000593139.1_RNA|PLEKHH3_ENST00000293349.6_5'Flank	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	300					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CACAGCGGGCGAGGGCCAAGC	0.682																																						uc002iax.3		NaN																	0					0						c.(898-900)CTC>CTT		CC chemokine receptor 10							18.0	18.0	18.0					17																	40831760		2186	4271	6457	SO:0001819	synonymous_variant	2826					integral to plasma membrane		g.chr17:40831760G>A	AF215981	CCDS11435.1	17q21.1-q21.3	2012-08-08	2004-11-12	2004-11-12	ENSG00000184451	ENSG00000184451		"""GPCR / Class A : Chemokine receptors : C-C motif"""	4474	protein-coding gene	gene with protein product		600240	"""G protein-coupled receptor 2"""	GPR2		7851889	Standard	NM_016602		Approved		uc002iax.4	P46092	OTTHUMG00000132301	ENST00000332438.4:c.900C>T	17.37:g.40831760G>A						PLEKHH3_uc002iau.2_5'Flank|PLEKHH3_uc002iav.2_5'Flank|PLEKHH3_uc010cym.1_5'Flank|PLEKHH3_uc002iaw.2_5'Flank|CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank	p.L300L	NM_016602	NP_057686	P46092	CCR10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	2	904	-		Breast(137;0.000153)	300			Helical; Name=7; (Potential).		Q4V749|Q6T7X2|Q9NZG2	Silent	SNP	ENST00000332438.4	37	c.900C>T	CCDS11435.1																																																																																				0.682	CCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255406.1		NM_016602		6	35	0	0	0	1	0	6	35		
CCR10	2826	broad.mit.edu	37	17	40831892	40831892	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40831892G>A	ENST00000332438.4	-	2	787	c.768C>T	c.(766-768)ttC>ttT	p.F256F	CCR10_ENST00000591765.1_Silent_p.F34F|PLEKHH3_ENST00000412503.1_5'Flank|PLEKHH3_ENST00000591022.1_5'Flank|CNTNAP1_ENST00000264638.4_5'Flank|CTD-3193K9.4_ENST00000593139.1_RNA|PLEKHH3_ENST00000293349.6_5'Flank	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	256					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GCAGCACCACGAAGGCCGCCA	0.711																																						uc002iax.3		NaN																	0					0						c.(766-768)TTC>TTT		CC chemokine receptor 10							6.0	7.0	7.0					17																	40831892		2096	4142	6238	SO:0001819	synonymous_variant	2826					integral to plasma membrane		g.chr17:40831892G>A	AF215981	CCDS11435.1	17q21.1-q21.3	2012-08-08	2004-11-12	2004-11-12	ENSG00000184451	ENSG00000184451		"""GPCR / Class A : Chemokine receptors : C-C motif"""	4474	protein-coding gene	gene with protein product		600240	"""G protein-coupled receptor 2"""	GPR2		7851889	Standard	NM_016602		Approved		uc002iax.4	P46092	OTTHUMG00000132301	ENST00000332438.4:c.768C>T	17.37:g.40831892G>A						PLEKHH3_uc002iau.2_5'Flank|PLEKHH3_uc002iav.2_5'Flank|PLEKHH3_uc010cym.1_5'Flank|PLEKHH3_uc002iaw.2_5'Flank|CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank	p.F256F	NM_016602	NP_057686	P46092	CCR10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	2	772	-		Breast(137;0.000153)	256			Helical; Name=6; (Potential).		Q4V749|Q6T7X2|Q9NZG2	Silent	SNP	ENST00000332438.4	37	c.768C>T	CCDS11435.1																																																																																				0.711	CCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255406.1		NM_016602		5	18	0	0	0	1	0	5	18		
EZH1	2145	broad.mit.edu	37	17	40864325	40864325	+	Silent	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40864325C>A	ENST00000428826.2	-	12	1504	c.1383G>T	c.(1381-1383)ggG>ggT	p.G461G	EZH1_ENST00000585893.1_Silent_p.G421G|EZH1_ENST00000435174.1_Silent_p.G322G|EZH1_ENST00000415827.2_Silent_p.G452G|EZH1_ENST00000590783.1_5'Flank|EZH1_ENST00000592743.1_Silent_p.G461G|EZH1_ENST00000590078.1_Silent_p.G391G			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	461					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		ACGTCTTGGTCCCCAGAAGCC	0.532																																						uc002iaz.2		NaN																	0				ovary(3)	3						c.(1381-1383)GGG>GGT		enhancer of zeste homolog 1							124.0	111.0	115.0					17																	40864325		2203	4300	6503	SO:0001819	synonymous_variant	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40864325C>A		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1383G>T	17.37:g.40864325C>A						EZH1_uc002iba.2_Silent_p.G452G|EZH1_uc010wgt.1_Silent_p.G391G|EZH1_uc010wgu.1_Silent_p.G467G|EZH1_uc010wgv.1_Silent_p.G421G|EZH1_uc010wgw.1_Silent_p.G322G|EZH1_uc010cyp.2_Silent_p.G362G|EZH1_uc010cyq.2_Silent_p.G378G|EZH1_uc010cyo.1_Silent_p.G124G|EZH1_uc010cyr.1_Silent_p.G113G	p.G461G	NM_001991	NP_001982	Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	12	1528	-		Breast(137;0.00104)	461					A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Silent	SNP	ENST00000428826.2	37	c.1383G>T	CCDS32659.1																																																																																				0.532	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1		NM_001991		24	94	1	0	1.96895e-08	1	2.0463e-08	24	94		
WNK4	65266	broad.mit.edu	37	17	40947953	40947953	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40947953G>A	ENST00000246914.5	+	16	3354	c.3333G>A	c.(3331-3333)atG>atA	p.M1111I	CNTD1_ENST00000588408.1_5'Flank|CNTD1_ENST00000588527.1_5'Flank	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1111					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CAGTGTGGATGAACTACTCCT	0.587																																					Esophageal Squamous(6;201 374 4964 23855 42828)	uc002ibj.2		NaN																	0				ovary(3)|skin(3)|stomach(1)	7						c.(3331-3333)ATG>ATA		WNK lysine deficient protein kinase 4							51.0	48.0	49.0					17																	40947953		2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40947953G>A	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.3333G>A	17.37:g.40947953G>A	ENSP00000246914:p.Met1111Ile					WNK4_uc010wgx.1_Missense_Mutation_p.M775I|CCDC56_uc010wgz.1_Missense_Mutation_p.S102L|CNTD1_uc002ibm.3_5'Flank|CNTD1_uc010wha.1_5'Flank	p.M1111I	NM_032387	NP_115763	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	16	3354	+		Breast(137;0.000143)	1111					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.3333G>A	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	G	3.243	-0.154965	0.06544	.	.	ENSG00000126562	ENST00000246914	T	0.70631	-0.5	4.66	4.66	0.58398	.	0.115559	0.39083	N	0.001466	T	0.62073	0.2398	L	0.48642	1.525	0.80722	D	1	B;B	0.13145	0.007;0.0	B;B	0.10450	0.005;0.002	T	0.58025	-0.7709	10	0.30854	T	0.27	-15.3484	11.7326	0.51746	0.0:0.0:0.6967:0.3033	.	1111;1111	Q96J92-3;Q96J92	.;WNK4_HUMAN	I	1111	ENSP00000246914:M1111I	ENSP00000246914:M1111I	M	+	3	0	WNK4	38201479	1.000000	0.71417	1.000000	0.80357	0.344000	0.29017	3.358000	0.52284	2.412000	0.81896	0.313000	0.20887	ATG		0.587	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1				24	61	0	0	0	1	0	24	61		
RUNDC1	146923	broad.mit.edu	37	17	41143537	41143537	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:41143537A>G	ENST00000361677.1	+	5	1658	c.1646A>G	c.(1645-1647)cAg>cGg	p.Q549R		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	549	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.									breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CTGAATGAGCAGCGTCTGGTG	0.547																																						uc002ici.1		NaN																	0					0						c.(1645-1647)CAG>CGG		RUN domain containing 1							93.0	79.0	84.0					17																	41143537		2203	4300	6503	SO:0001583	missense	146923							g.chr17:41143537A>G	AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.1646A>G	17.37:g.41143537A>G	ENSP00000354622:p.Gln549Arg					RUNDC1_uc010whi.1_Missense_Mutation_p.Q319R	p.Q549R	NM_173079	NP_775102	Q96C34	RUND1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	5	1658	+		Breast(137;0.00499)	549			RUN.		Q6Y2K8|Q8IXT9|Q8N3W1	Missense_Mutation	SNP	ENST00000361677.1	37	c.1646A>G	CCDS11448.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.144243	0.77888	.	.	ENSG00000198863	ENST00000361677	T	0.31510	1.49	4.91	4.91	0.64330	RUN (3);	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	L	0.47716	1.5	0.80722	D	1	D	0.63880	0.993	D	0.63381	0.914	T	0.21827	-1.0234	10	0.32370	T	0.25	-25.0535	14.6915	0.69091	1.0:0.0:0.0:0.0	.	549	Q96C34	RUND1_HUMAN	R	549	ENSP00000354622:Q549R	ENSP00000354622:Q549R	Q	+	2	0	RUNDC1	38397063	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.135000	0.94478	2.052000	0.61016	0.533000	0.62120	CAG		0.547	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1		NM_173079		17	57	0	0	0	1	0	17	57		
VAT1	10493	broad.mit.edu	37	17	41174209	41174209	+	Nonsense_Mutation	SNP	G	G	T	rs567021190		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:41174209G>T	ENST00000355653.3	-	1	226	c.131C>A	c.(130-132)tCg>tAg	p.S44*	VAT1_ENST00000587173.1_Nonsense_Mutation_p.S44*|VAT1_ENST00000420567.3_5'Flank	NM_006373.3	NP_006364.2	P54219	VMAT1_HUMAN	vesicle amine transport 1	0					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	cagtggcggcgaggcggcggc	0.756													G|||	1	0.000199681	0.0	0.0	5008	,	,		11403	0.001		0.0	False		,,,				2504	0.0					uc002icm.1		NaN																	0					0						c.(130-132)TCG>TAG		vesicle amine transport protein 1							2.0	3.0	3.0					17																	41174209		1347	2924	4271	SO:0001587	stop_gained	10493					cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding	g.chr17:41174209G>T	U18009	CCDS11451.1	17q21	2013-08-23	2013-08-23			ENSG00000108828			16919	protein-coding gene	gene with protein product		604631	"""vesicle amine transport protein 1 homolog (T. californica)"""			7774926, 8938427	Standard	NM_006373		Approved	VATI, FLJ20230	uc002icm.1	Q99536		ENST00000355653.3:c.131C>A	17.37:g.41174209G>T	ENSP00000347872:p.Ser44*					VAT1_uc010cyw.1_5'Flank|VAT1_uc010whk.1_Nonsense_Mutation_p.S44*	p.S44*	NM_006373	NP_006364	Q99536	VAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	251	-		Breast(137;0.000717)	44					E9PDJ5|Q9BRE4	Nonsense_Mutation	SNP	ENST00000355653.3	37	c.131C>A	CCDS11451.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185553	0.57909	.	.	ENSG00000108828	ENST00000355653;ENST00000315674	.	.	.	3.76	1.53	0.23141	.	0.793728	0.11554	N	0.552470	.	.	.	.	.	.	0.42403	D	0.992572	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	6.432	0.21803	0.1083:0.0:0.5954:0.2963	.	.	.	.	X	44	.	ENSP00000326121:S44X	S	-	2	0	VAT1	38427735	0.982000	0.34865	0.523000	0.27875	0.149000	0.21700	3.210000	0.51129	0.779000	0.33543	0.555000	0.69702	TCG		0.756	VAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453101.1		NM_006373		3	8	1	0	0.00909568	1	0.00916606	3	8		
ETV4	2118	broad.mit.edu	37	17	41610076	41610076	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:41610076G>A	ENST00000319349.5	-	8	1075	c.777C>T	c.(775-777)atC>atT	p.I259I	ETV4_ENST00000591713.1_Silent_p.I259I|ETV4_ENST00000538265.1_Silent_p.I220I|ETV4_ENST00000586826.1_5'Flank|ETV4_ENST00000545954.1_Silent_p.I220I|ETV4_ENST00000393664.2_Silent_p.I259I|ETV4_ENST00000545089.1_Silent_p.I205I	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	259					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GTTCCTGTTTGATCACCACCC	0.587			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""																																Esophageal Squamous(116;1540 1611 12927 31103 34118)	uc002idw.2		NaN		Dom	yes		17	17q21	2118	T	"""ets variant gene 4 (E1A enhancer binding protein, E1AF)"""			"""M, E"""	EWSR1|TMPRSS2|DDX5|KLK2|CANT1		Ewing sarcoma|Prostate carcinoma	EWSR1/ETV4(6)	0				bone(4)|soft_tissue(2)|ovary(1)	7						c.(775-777)ATC>ATT		ets variant gene 4 (E1A enhancer binding							64.0	62.0	62.0					17																	41610076		2203	4300	6503	SO:0001819	synonymous_variant	2118				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:41610076G>A	U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"""E1A enhancer binding protein"""	600711	"""ets variant gene 4 (E1A enhancer-binding protein, E1AF)"""			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.777C>T	17.37:g.41610076G>A						ETV4_uc002idv.2_5'Flank|ETV4_uc010wih.1_Silent_p.I205I|ETV4_uc010czh.2_Silent_p.I258I|ETV4_uc010wii.1_Silent_p.I220I|ETV4_uc002idx.2_Silent_p.I259I|ETV4_uc010wij.1_Silent_p.I220I	p.I259I	NM_001986	NP_001977	P43268	ETV4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0798)	8	905	-		Breast(137;0.00908)	259					A8K314|B7Z5J3|B7Z9J6|Q96AW9	Silent	SNP	ENST00000319349.5	37	c.777C>T	CCDS11465.1																																																																																				0.587	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1		NM_001986		31	98	0	0	0	1	0	31	98		
UBTF	7343	broad.mit.edu	37	17	42289312	42289312	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:42289312G>C	ENST00000302904.4	-	9	1326	c.834C>G	c.(832-834)acC>acG	p.T278T	UBTF_ENST00000436088.1_Silent_p.T278T|UBTF_ENST00000533177.1_Silent_p.T241T|UBTF_ENST00000343638.5_Silent_p.T241T|UBTF_ENST00000393606.3_Silent_p.T241T|UBTF_ENST00000527034.1_Silent_p.T241T|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Silent_p.T241T|UBTF_ENST00000529383.1_Silent_p.T278T			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	278					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGGTGGACTTGGTGATACCCT	0.612																																						uc002igb.2		NaN																	0					0						c.(832-834)ACC>ACG		upstream binding transcription factor, RNA							182.0	164.0	170.0					17																	42289312		2203	4300	6503	SO:0001819	synonymous_variant	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42289312G>C	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.834C>G	17.37:g.42289312G>C						UBTF_uc002igc.2_Silent_p.T241T|UBTF_uc010czs.2_Silent_p.T278T|UBTF_uc002igd.2_Silent_p.T241T|UBTF_uc010czt.2_Silent_p.T278T|UBTF_uc002ige.2_Silent_p.T241T	p.T278T	NM_014233	NP_055048	P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	8	901	-		Breast(137;0.00765)|Prostate(33;0.0181)	278					A8K6R8	Silent	SNP	ENST00000302904.4	37	c.834C>G	CCDS11480.1																																																																																				0.612	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1		NM_014233		35	124	0	0	0	1	0	35	124		
SLC25A39	51629	broad.mit.edu	37	17	42398044	42398044	+	Silent	SNP	C	C	T	rs371523676		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:42398044C>T	ENST00000377095.5	-	9	866	c.747G>A	c.(745-747)ccG>ccA	p.P249P	SLC25A39_ENST00000590194.1_Silent_p.P241P|SLC25A39_ENST00000537904.2_Silent_p.P226P|SLC25A39_ENST00000225308.8_Silent_p.P241P|SLC25A39_ENST00000586016.1_Silent_p.P117P	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	249					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCTGGTCCTTCGGCCTGAACC	0.597																																						uc002ign.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(745-747)CCG>CCA		solute carrier family 25, member 39 isoform a		C	,	0,4406		0,0,2203	113.0	119.0	117.0		747,723	-5.9	0.6	17		117	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC25A39	NM_001143780.1,NM_016016.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	249/360,241/352	42398044	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51629				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr17:42398044C>T	BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"""Solute carriers"""	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.747G>A	17.37:g.42398044C>T						SLC25A39_uc002igm.2_Silent_p.P241P|SLC25A39_uc002igo.2_Silent_p.P241P|SLC25A39_uc010wiw.1_Silent_p.P226P|SLC25A39_uc010czu.2_Silent_p.P117P|SLC25A39_uc010wix.1_3'UTR|SLC25A39_uc010wiy.1_3'UTR	p.P249P	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	9	901	-		Prostate(33;0.0233)	249					A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Silent	SNP	ENST00000377095.5	37	c.747G>A	CCDS45700.1																																																																																				0.597	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1		NM_016016		51	121	0	0	0	1	0	51	121		
HEXIM1	10614	broad.mit.edu	37	17	43227467	43227467	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:43227467G>A	ENST00000332499.2	+	1	2784	c.910G>A	c.(910-912)Gag>Aag	p.E304K	AC002117.1_ENST00000452741.1_RNA|AC002117.1_ENST00000589950.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	304	Mediates interaction with CCNT1.				heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)	p.E304K(1)		breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CATGGAGGACGAGAACAACCG	0.647																																						uc002iig.2		NaN																	1	Substitution - Missense(1)		breast(1)	ovary(1)	1						c.(910-912)GAG>AAG		hexamethylene bis-acetamide inducible 1							55.0	65.0	62.0					17																	43227467		2203	4300	6503	SO:0001583	missense	10614				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43227467G>A	AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.910G>A	17.37:g.43227467G>A	ENSP00000328773:p.Glu304Lys						p.E304K	NM_006460	NP_006451	O94992	HEXI1_HUMAN			1	2784	+			304			Mediates interaction with CCNT1.|Potential.		B2R8Y5	Missense_Mutation	SNP	ENST00000332499.2	37	c.910G>A	CCDS11495.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968684	0.92855	.	.	ENSG00000186834	ENST00000332499	.	.	.	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.73799	0.3633	L	0.50333	1.59	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	T	0.75377	-0.3339	9	0.52906	T	0.07	-19.3452	15.8819	0.79211	0.0:0.0:1.0:0.0	.	304	O94992	HEXI1_HUMAN	K	304	.	ENSP00000328773:E304K	E	+	1	0	HEXIM1	40583250	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.488000	0.97947	2.338000	0.79540	0.561000	0.74099	GAG		0.647	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2		NM_006460		16	163	0	0	0	1	0	16	163		
SKAP1	8631	broad.mit.edu	37	17	46262095	46262095	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:46262095C>T	ENST00000336915.6	-	7	626	c.557G>A	c.(556-558)cGc>cAc	p.R186H	SKAP1_ENST00000584924.1_Missense_Mutation_p.R186H|RP11-456D7.1_ENST00000582246.1_RNA	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	186	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						CTCATAGCTGCGCCTATCCTG	0.522																																						uc002ini.1		NaN																	0					0						c.(556-558)CGC>CAC		src kinase associated phosphoprotein 1 isoform							209.0	193.0	198.0					17																	46262095		2203	4300	6503	SO:0001583	missense	8631				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding	g.chr17:46262095C>T	Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"""Pleckstrin homology (PH) domain containing"""	15605	protein-coding gene	gene with protein product		604969	"""src family associated phosphoprotein 1"""	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.557G>A	17.37:g.46262095C>T	ENSP00000338171:p.Arg186His					SKAP1_uc002inj.1_Missense_Mutation_p.R186H|SKAP1_uc010dbd.1_Missense_Mutation_p.R92H|SKAP1_uc010dbe.1_Missense_Mutation_p.R186H	p.R186H	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN			7	669	-			186			PH.		D3DTV1|O15268	Missense_Mutation	SNP	ENST00000336915.6	37	c.557G>A	CCDS32674.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613516	0.46631	.	.	ENSG00000141293	ENST00000336915	T	0.17691	2.26	5.55	5.55	0.83447	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.061153	0.64402	D	0.000002	T	0.44159	0.1280	M	0.77103	2.36	0.53688	D	0.999975	D;D	0.89917	0.995;1.0	P;D	0.68621	0.774;0.959	T	0.37619	-0.9698	10	0.66056	D	0.02	-54.9613	17.2809	0.87128	0.0:1.0:0.0:0.0	.	186;186	Q86WV1-2;Q86WV1	.;SKAP1_HUMAN	H	186	ENSP00000338171:R186H	ENSP00000338171:R186H	R	-	2	0	SKAP1	43617094	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.368000	0.66133	2.612000	0.88384	0.557000	0.71058	CGC		0.522	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443432.1		NM_003726		60	136	0	0	0	1	0	60	136		
HOXB8	3218	broad.mit.edu	37	17	46691686	46691686	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:46691686C>G	ENST00000239144.4	-	1	615	c.381G>C	c.(379-381)caG>caC	p.Q127H	HOXB8_ENST00000576562.1_Missense_Mutation_p.Q127H|HOXB7_ENST00000567101.2_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	127					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|dorsal spinal cord development (GO:0021516)|embryonic skeletal system morphogenesis (GO:0048704)|grooming behavior (GO:0007625)|negative regulation of myeloid cell differentiation (GO:0045638)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(8)|urinary_tract(2)	11						GCGACGGGCTCTGCTCGGAGC	0.706																																						uc002inw.2		NaN																	0					0						c.(379-381)CAG>CAC		homeobox B8							11.0	13.0	12.0					17																	46691686		2166	4254	6420	SO:0001583	missense	3218					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46691686C>G		CCDS11533.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068		"""Homeoboxes / ANTP class : HOXL subclass"""	5119	protein-coding gene	gene with protein product		142963	"""homeo box B8"""	HOX2, HOX2D		1973146, 1358459	Standard	XM_005257286		Approved		uc002inw.3	P17481	OTTHUMG00000159904	ENST00000239144.4:c.381G>C	17.37:g.46691686C>G	ENSP00000239144:p.Gln127His						p.Q127H	NM_024016	NP_076921	P17481	HXB8_HUMAN			1	616	-			127					Q9H1I2	Missense_Mutation	SNP	ENST00000239144.4	37	c.381G>C	CCDS11533.1	.	.	.	.	.	.	.	.	.	.	c	15.18	2.758079	0.49468	.	.	ENSG00000120068	ENST00000239144	T	0.47869	0.83	2.97	2.97	0.34412	Homeodomain-like (1);	0.000000	0.56097	U	0.000030	T	0.61961	0.2389	M	0.78049	2.395	0.51767	D	0.999936	D	0.67145	0.996	P	0.56700	0.804	T	0.68591	-0.5368	10	0.48119	T	0.1	.	14.3989	0.67029	0.0:1.0:0.0:0.0	.	127	P17481	HXB8_HUMAN	H	127	ENSP00000239144:Q127H	ENSP00000239144:Q127H	Q	-	3	2	HOXB8	44046685	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	3.610000	0.54125	1.685000	0.51034	0.290000	0.19541	CAG		0.706	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3				7	27	0	0	0	1	0	7	27		
DLX4	1748	broad.mit.edu	37	17	48046847	48046847	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:48046847C>T	ENST00000240306.3	+	1	310	c.15C>T	c.(13-15)ccC>ccT	p.P5P	DLX4_ENST00000503410.1_Intron|DLX4_ENST00000505318.2_Silent_p.P5P	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	5				MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9). {ECO:0000305}.	multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						CCTCTTTGCCCTGCCCCCTCC	0.677																																						uc002ipv.2		NaN																	0					0						c.(13-15)CCC>CCT		distal-less homeobox 4 isoform a							48.0	55.0	53.0					17																	48046847		2201	4298	6499	SO:0001819	synonymous_variant	1748				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48046847C>T		CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"""Homeoboxes / ANTP class : NKL subclass"""	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.15C>T	17.37:g.48046847C>T							p.P5P	NM_138281	NP_612138	Q92988	DLX4_HUMAN			1	286	+			5	MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9).				D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Silent	SNP	ENST00000240306.3	37	c.15C>T	CCDS11555.1																																																																																				0.677	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366214.1				39	164	0	0	0	1	0	39	164		
SAMD14	201191	broad.mit.edu	37	17	48194939	48194939	+	Missense_Mutation	SNP	C	C	T	rs541345234		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:48194939C>T	ENST00000330175.4	-	4	648	c.331G>A	c.(331-333)Gag>Aag	p.E111K	SAMD14_ENST00000503734.1_5'UTR|SAMD14_ENST00000503131.1_Missense_Mutation_p.E111K	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	111										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GGCTCGTCCTCGTCCAGGCTG	0.761													C|||	1	0.000199681	0.0	0.0	5008	,	,		11843	0.0		0.0	False		,,,				2504	0.001					uc002iqg.2		NaN																	0					0						c.(331-333)GAG>AAG		sterile alpha motif domain containing 14							4.0	5.0	4.0					17																	48194939		1824	3731	5555	SO:0001583	missense	201191							g.chr17:48194939C>T		CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"""Sterile alpha motif (SAM) domain containing"""	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.331G>A	17.37:g.48194939C>T	ENSP00000329144:p.Glu111Lys					SAMD14_uc002iqd.2_5'UTR|SAMD14_uc002iqe.2_5'UTR|SAMD14_uc002iqf.2_Missense_Mutation_p.E111K	p.E111K	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN			4	630	-			111					A5D8V1|Q8N2X0	Missense_Mutation	SNP	ENST00000330175.4	37	c.331G>A	CCDS58562.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151710	0.57151	.	.	ENSG00000167100	ENST00000330175;ENST00000285206;ENST00000503131	.	.	.	5.03	5.03	0.67393	.	0.209202	0.32819	N	0.005605	T	0.43277	0.1240	L	0.56769	1.78	0.37534	D	0.918032	P;P	0.47841	0.672;0.901	B;B	0.37601	0.028;0.254	T	0.47275	-0.9130	9	0.15499	T	0.54	-32.4691	12.0651	0.53583	0.0:0.8261:0.1739:0.0	.	111;111	Q8IZD0;Q8IZD0-2	SAM14_HUMAN;.	K	111;123;111	.	ENSP00000285206:E123K	E	-	1	0	SAMD14	45549938	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	2.746000	0.47467	2.498000	0.84270	0.313000	0.20887	GAG		0.761	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1		NM_174920		3	9	0	0	0	1	0	3	9		
MYCBPAP	84073	broad.mit.edu	37	17	48600299	48600299	+	Splice_Site	SNP	G	G	A	rs56367701		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:48600299G>A	ENST00000323776.5	+	11	1548		c.e11-1		MYCBPAP_ENST00000436259.2_Splice_Site	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CCTCCTTCCAGAGGCAGGTTG	0.502																																						uc010wmr.1		NaN																	0				urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6						c.e11-1		Myc-binding protein-associated protein							76.0	76.0	76.0					17																	48600299		2203	4300	6503	SO:0001630	splice_region_variant	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48600299G>A	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1387-1G>A	17.37:g.48600299G>A						MYCBPAP_uc002iqz.2_Splice_Site	p.R463_splice	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		11	1549	+	Breast(11;1.23e-18)								Splice_Site	SNP	ENST00000323776.5	37	c.1387_splice	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902166	0.52227	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3422	0.98769	0.0:0.0:1.0:0.0	rs56367701	.	.	.	.	-1	.	.	.	+	.	.	MYCBPAP	45955298	0.889000	0.30405	0.575000	0.28536	0.029000	0.11900	1.995000	0.40767	2.810000	0.96702	0.655000	0.94253	.		0.502	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1		NM_032133	Intron	23	72	0	0	0	1	0	23	72		
SPATA20	64847	broad.mit.edu	37	17	48632592	48632592	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:48632592G>C	ENST00000356488.4	+	15	2192		c.e15-1		CACNA1G-AS1_ENST00000505793.1_RNA|SPATA20_ENST00000511937.1_Splice_Site|CACNA1G-AS1_ENST00000505495.1_RNA|CACNA1G-AS1_ENST00000508920.1_RNA|SPATA20_ENST00000393244.3_Splice_Site|SPATA20_ENST00000006658.6_Splice_Site	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			ATTCCGGTCAGATCGTGATCT	0.592																																						uc002irf.2		NaN																	0					0						c.e15-1		spermatogenesis associated 20							156.0	118.0	131.0					17																	48632592		2203	4300	6503	SO:0001630	splice_region_variant	64847				cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	g.chr17:48632592G>C		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"""hypothetical protein FLJ21347"""	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.2110-1G>C	17.37:g.48632592G>C						SPATA20_uc002irc.2_Splice_Site_p.I371_splice|SPATA20_uc002ire.2_Splice_Site_p.I660_splice|SPATA20_uc002ird.2_Splice_Site_p.I720_splice|SPATA20_uc002irg.2_Splice_Site	p.I704_splice	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		15	2251	+	Breast(11;1.23e-18)							Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Splice_Site	SNP	ENST00000356488.4	37	c.2110_splice	CCDS58563.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102323	0.76983	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8611	0.92271	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPATA20	45987591	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.558000	0.82253	2.444000	0.82710	0.555000	0.69702	.		0.592	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1		NM_022827	Intron	11	39	0	0	0	1	0	11	39		
ABCC3	8714	broad.mit.edu	37	17	48741345	48741345	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:48741345C>T	ENST00000285238.8	+	10	1291	c.1211C>T	c.(1210-1212)tCc>tTc	p.S404F	ABCC3_ENST00000427699.1_Missense_Mutation_p.S404F	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	404	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	AAACGTGCGTCCACTGTGGGG	0.577																																						uc002isl.2		NaN																	0				skin(3)|central_nervous_system(1)	4						c.(1210-1212)TCC>TTC		ATP-binding cassette, sub-family C, member 3	Glibenclamide(DB01016)						152.0	126.0	135.0					17																	48741345		2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48741345C>T	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1211C>T	17.37:g.48741345C>T	ENSP00000285238:p.Ser404Phe					ABCC3_uc002isk.3_Missense_Mutation_p.S404F|ABCC3_uc002ism.2_Silent_p.V116V	p.S404F	NM_003786	NP_003777	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		10	1291	+			404			Cytoplasmic (By similarity).|ABC transmembrane type-1 1.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.1211C>T	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365248	0.41902	.	.	ENSG00000108846	ENST00000427699;ENST00000285238	D;D	0.92965	-3.14;-2.55	4.71	3.73	0.42828	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.066910	0.64402	D	0.000009	D	0.93609	0.7959	L	0.53729	1.69	0.80722	D	1	D;P	0.61697	0.99;0.725	P;P	0.60682	0.878;0.482	D	0.93072	0.6483	10	0.45353	T	0.12	-21.143	14.4771	0.67554	0.1477:0.8523:0.0:0.0	.	404;404	O15438;O15438-5	MRP3_HUMAN;.	F	404	ENSP00000395160:S404F;ENSP00000285238:S404F	ENSP00000285238:S404F	S	+	2	0	ABCC3	46096344	1.000000	0.71417	0.869000	0.34112	0.455000	0.32408	2.455000	0.44988	1.157000	0.42530	0.591000	0.81541	TCC		0.577	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2		NM_020038		54	68	0	0	0	1	0	54	68		
WFIKKN2	124857	broad.mit.edu	37	17	48917594	48917594	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:48917594G>C	ENST00000311378.4	+	2	1473	c.945G>C	c.(943-945)gaG>gaC	p.E315D	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.E222D|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	315					muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CCACCTCAGAGAGCAGCCCCA	0.662																																						uc002isv.3		NaN																	0				ovary(2)|skin(1)	3						c.(943-945)GAG>GAC		WFIKKN2 protein							50.0	45.0	47.0					17																	48917594		2203	4300	6503	SO:0001583	missense	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48917594G>C	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.945G>C	17.37:g.48917594G>C	ENSP00000311184:p.Glu315Asp					WFIKKN2_uc010dbu.2_Missense_Mutation_p.E222D	p.E315D	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1639	+			315					Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	c.945G>C	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	g	4.975	0.181180	0.09443	.	.	ENSG00000173714	ENST00000426127;ENST00000311378	D;D	0.81996	-1.55;-1.56	5.44	3.42	0.39159	.	0.000000	0.64402	D	0.000001	T	0.67401	0.2889	L	0.38531	1.155	0.26491	N	0.974939	P	0.37688	0.605	B	0.32762	0.152	T	0.55630	-0.8111	10	0.10902	T	0.67	.	6.0464	0.19762	0.2035:0.1551:0.6414:0.0	.	315	Q8TEU8	WFKN2_HUMAN	D	222;315	ENSP00000405889:E222D;ENSP00000311184:E315D	ENSP00000311184:E315D	E	+	3	2	WFIKKN2	46272593	1.000000	0.71417	0.886000	0.34754	0.281000	0.26958	1.140000	0.31516	0.634000	0.30469	0.651000	0.88453	GAG		0.662	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1		NM_175575		22	72	0	0	0	1	0	22	72		
MBTD1	54799	broad.mit.edu	37	17	49270356	49270356	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:49270356G>A	ENST00000586178.1	-	15	1820	c.1477C>T	c.(1477-1479)Cgt>Tgt	p.R493C	MBTD1_ENST00000376381.2_3'UTR|MBTD1_ENST00000415868.1_Missense_Mutation_p.R493C	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	493					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			ATTCCTACACGAAATCCGTGA	0.363																																						uc002itr.3		NaN																	0				ovary(2)	2						c.(1477-1479)CGT>TGT		mbt domain containing 1							144.0	141.0	142.0					17																	49270356		2203	4300	6503	SO:0001583	missense	54799				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr17:49270356G>A	AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.1477C>T	17.37:g.49270356G>A	ENSP00000468304:p.Arg493Cys					MBTD1_uc002itp.3_Missense_Mutation_p.R329C|MBTD1_uc002itq.3_3'UTR	p.R493C	NM_017643	NP_060113	Q05BQ5	MBTD1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		15	1821	-			493			MBT 4.		Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	ENST00000586178.1	37	c.1477C>T	CCDS11581.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991191	0.74703	.	.	ENSG00000011258	ENST00000405860;ENST00000415868	T	0.43688	0.94	5.89	5.89	0.94794	.	0.157548	0.64402	D	0.000020	T	0.43942	0.1270	L	0.52573	1.65	0.80722	D	1	B;B	0.14438	0.002;0.01	B;B	0.13407	0.002;0.009	T	0.23691	-1.0181	10	0.56958	D	0.05	.	20.2435	0.98387	0.0:0.0:1.0:0.0	.	493;329	Q05BQ5;Q05BQ5-3	MBTD1_HUMAN;.	C	493	ENSP00000403946:R493C	ENSP00000386072:R493C	R	-	1	0	MBTD1	46625355	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.483000	0.73617	2.784000	0.95788	0.650000	0.86243	CGT		0.363	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318124.1				33	86	0	0	0	1	0	33	86		
CA10	56934	broad.mit.edu	37	17	50235295	50235295	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:50235295C>T	ENST00000285273.4	-	0	963				CA10_ENST00000570565.1_Intron|CA10_ENST00000340813.6_De_novo_Start_OutOfFrame|CA10_ENST00000442502.2_De_novo_Start_OutOfFrame|CA10_ENST00000451037.2_De_novo_Start_OutOfFrame	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X						brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	GGGACAGTCACCCCCAAGATC	0.612																																						uc002itw.3		NaN																	0				ovary(1)|skin(1)	2						c.(-150--146)GGGTG>GGATG		carbonic anhydrase X																																						56934				brain development			g.chr17:50235295C>T	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.-149G>A	17.37:g.50235295C>T						CA10_uc002itv.3_Translation_Start_Site|CA10_uc002itx.3_Translation_Start_Site|CA10_uc002ity.3_Translation_Start_Site|CA10_uc002itz.2_Translation_Start_Site		NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		1	838	-								B2R7J0|B4DGL6	Translation_Start_Site	SNP	ENST00000285273.4	37	c.-148G>A	CCDS32684.1																																																																																				0.612	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1		NM_020178		11	22	0	0	0	1	0	11	22		
DGKE	8526	broad.mit.edu	37	17	54940071	54940071	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:54940071G>A	ENST00000284061.3	+	12	1803	c.1623G>A	c.(1621-1623)atG>atA	p.M541I		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	541					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					CACATGCAATGATGTTATATT	0.453																																						uc002iur.2		NaN																	0				breast(2)	2						c.(1621-1623)ATG>ATA		diacylglycerol kinase epsilon							75.0	64.0	68.0					17																	54940071		2203	4300	6503	SO:0001583	missense	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54940071G>A	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.1623G>A	17.37:g.54940071G>A	ENSP00000284061:p.Met541Ile					DGKE_uc002ius.1_3'UTR	p.M541I	NM_003647	NP_003638	P52429	DGKE_HUMAN			12	1803	+	Breast(9;3.59e-07)		541					Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	c.1623G>A	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040853	0.35989	.	.	ENSG00000153933	ENST00000284061	T	0.38401	1.14	5.8	2.6	0.31112	.	0.528137	0.20303	N	0.094982	T	0.15825	0.0381	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06267	-1.0836	10	0.21540	T	0.41	.	6.3718	0.21485	0.21:0.1322:0.6578:0.0	.	541	P52429	DGKE_HUMAN	I	541	ENSP00000284061:M541I	ENSP00000284061:M541I	M	+	3	0	DGKE	52295070	0.997000	0.39634	0.855000	0.33649	0.901000	0.52897	1.020000	0.30027	0.814000	0.34374	-0.151000	0.13558	ATG		0.453	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1		NM_003647		18	10	0	0	0	1	0	18	10		
MPO	4353	broad.mit.edu	37	17	56358002	56358002	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:56358002G>C	ENST00000225275.3	-	1	294	c.118C>G	c.(118-120)Ctg>Gtg	p.L40V	MPO_ENST00000340482.3_Missense_Mutation_p.L40V|MPO_ENST00000578493.1_5'Flank	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	40					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.L40V(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	GGCGTGGCCAGAATGGCCAGG	0.582																																						uc002ivu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(118-120)CTG>GTG		myeloperoxidase	Cefdinir(DB00535)						65.0	61.0	62.0					17																	56358002		2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56358002G>C		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.118C>G	17.37:g.56358002G>C	ENSP00000225275:p.Leu40Val						p.L40V	NM_000250	NP_000241	P05164	PERM_HUMAN			1	295	-			40					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.118C>G	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791260	0.50102	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.75704	-0.96;-0.68	5.46	-0.437	0.12272	.	1.197550	0.06482	N	0.733022	T	0.64757	0.2627	L	0.54323	1.7	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.50398	-0.8833	10	0.40728	T	0.16	-3.7684	2.5543	0.04756	0.1637:0.2696:0.4286:0.1381	.	40	P05164	PERM_HUMAN	V	40	ENSP00000344419:L40V;ENSP00000225275:L40V	ENSP00000225275:L40V	L	-	1	2	MPO	53713001	0.000000	0.05858	0.031000	0.17742	0.734000	0.41952	0.087000	0.14958	0.250000	0.21479	0.561000	0.74099	CTG		0.582	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1				23	80	0	0	0	1	0	23	80		
HSF5	124535	broad.mit.edu	37	17	56540327	56540327	+	Missense_Mutation	SNP	G	G	C	rs145817491		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:56540327G>C	ENST00000323777.3	-	4	1467	c.1358C>G	c.(1357-1359)tCt>tGt	p.S453C		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	453					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S453F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGTGGTAGAGAGCAGGCAAC	0.483																																						uc002iwi.1		NaN																	1	Substitution - Missense(1)	p.S453F(1)	skin(1)	ovary(2)|skin(1)	3						c.(1357-1359)TCT>TGT		heat shock transcription factor family member 5							210.0	185.0	193.0					17																	56540327		2203	4300	6503	SO:0001583	missense	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56540327G>C	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.1358C>G	17.37:g.56540327G>C	ENSP00000313243:p.Ser453Cys						p.S453C	NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN			4	1482	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		453					Q08EH7|Q8N7V2	Missense_Mutation	SNP	ENST00000323777.3	37	c.1358C>G	CCDS32690.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587833	0.66105	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	T	0.73575	-0.76	5.38	5.38	0.77491	.	0.098941	0.45361	D	0.000371	T	0.78071	0.4226	L	0.27053	0.805	0.38985	D	0.959033	D	0.76494	0.999	D	0.66602	0.945	T	0.81955	-0.0696	10	0.87932	D	0	.	15.8716	0.79122	0.0:0.0:1.0:0.0	.	453	Q4G112	HSF5_HUMAN	C	353;453	ENSP00000313243:S453C	ENSP00000313243:S453C	S	-	2	0	HSF5	53895326	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.009000	0.70745	2.529000	0.85273	0.650000	0.86243	TCT		0.483	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1		XM_064190		29	96	0	0	0	1	0	29	96		
MTMR4	9110	broad.mit.edu	37	17	56569025	56569025	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:56569025C>T	ENST00000323456.5	-	19	3711	c.3587G>A	c.(3586-3588)tGa>tAa	p.*1196*	MTMR4_ENST00000579925.1_Silent_p.*1139*	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	0					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCCGGCATTCAACTGGAAGC	0.468																																						uc002iwj.2		NaN																	0				skin(1)	1						c.(3586-3588)TGA>TAA		myotubularin related protein 4							84.0	76.0	79.0					17																	56569025		2203	4300	6503	SO:0001819	synonymous_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56569025C>T	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.3587G>A	17.37:g.56569025C>T							p.*1196*	NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN			19	3697	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1196					D3DTZ6|Q8IV27|Q9Y4D5	Silent	SNP	ENST00000323456.5	37	c.3587G>A	CCDS11608.1																																																																																				0.468	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1		NM_004687		19	57	0	0	0	1	0	19	57		
HEATR6	63897	broad.mit.edu	37	17	58128216	58128216	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:58128216G>A	ENST00000184956.6	-	15	2428	c.2412C>T	c.(2410-2412)ttC>ttT	p.F804F	HEATR6_ENST00000585976.1_Silent_p.F692F	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	804							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GCAGATTGCTGAAGGCCTCTG	0.502																																						uc002iyk.1		NaN																	0				ovary(1)|skin(1)	2						c.(2410-2412)TTC>TTT		HEAT repeat containing 6							73.0	69.0	70.0					17																	58128216		2203	4300	6503	SO:0001819	synonymous_variant	63897						binding	g.chr17:58128216G>A	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.2412C>T	17.37:g.58128216G>A						HEATR6_uc010ddk.1_Silent_p.F343F|HEATR6_uc010wos.1_Silent_p.F524F	p.F804F	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		15	2429	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		804					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Silent	SNP	ENST00000184956.6	37	c.2412C>T	CCDS11623.1																																																																																				0.502	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1		NM_022070		15	51	0	0	0	1	0	15	51		
CA4	762	broad.mit.edu	37	17	58234821	58234821	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:58234821C>T	ENST00000300900.4	+	4	401	c.302C>T	c.(301-303)tCt>tTt	p.S101F		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	101					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|organ development (GO:0048513)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	GCCAGCATTTCTGGAGGAGGA	0.587																																						uc002iym.3		NaN																	0					0						c.(301-303)TCT>TTT		carbonic anhydrase IV precursor	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)						118.0	92.0	101.0					17																	58234821		2203	4300	6503	SO:0001583	missense	762				bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding	g.chr17:58234821C>T	L10955	CCDS11624.1	17q23.1	2012-08-21			ENSG00000167434	ENSG00000167434	4.2.1.1	"""Carbonic anhydrases"""	1375	protein-coding gene	gene with protein product		114760	"""retinitis pigmentosa 17 (autosomal dominant)"""	RP17		8325641	Standard	NM_000717		Approved	CAIV, Car4	uc002iym.4	P22748		ENST00000300900.4:c.302C>T	17.37:g.58234821C>T	ENSP00000300900:p.Ser101Phe					CA4_uc010wou.1_Intron	p.S101F	NM_000717	NP_000708	P22748	CAH4_HUMAN	Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		4	396	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		101					B4DQA4|Q6FHI7	Missense_Mutation	SNP	ENST00000300900.4	37	c.302C>T	CCDS11624.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.486615	0.26686	.	.	ENSG00000167434	ENST00000300900	T	0.69306	-0.39	4.61	-1.39	0.08997	Carbonic anhydrase, alpha-class, catalytic domain (4);	2.048230	0.02527	N	0.093163	T	0.57446	0.2054	M	0.67397	2.05	0.09310	N	1	P	0.35527	0.507	B	0.28991	0.097	T	0.42932	-0.9422	10	0.51188	T	0.08	.	0.5955	0.00735	0.3223:0.3143:0.1592:0.2042	.	101	P22748	CAH4_HUMAN	F	101	ENSP00000300900:S101F	ENSP00000300900:S101F	S	+	2	0	CA4	55589603	0.000000	0.05858	0.003000	0.11579	0.083000	0.17756	0.002000	0.13061	-0.158000	0.11040	0.462000	0.41574	TCT		0.587	CA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449189.1		NM_000717		22	89	0	0	0	1	0	22	89		
BRIP1	83990	broad.mit.edu	37	17	59770842	59770842	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:59770842G>C	ENST00000259008.2	-	18	2791	c.2524C>G	c.(2524-2526)Ctt>Gtt	p.L842V	BRIP1_ENST00000577598.1_Missense_Mutation_p.L842V	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	842					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ACTAGAATAAGAGCTCCCCAA	0.353			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002izk.1		NaN	yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	F|N|Mis	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		AML|leukemia|breast			0				ovary(1)	1						c.(2524-2526)CTT>GTT	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	BRCA1 interacting protein C-terminal helicase 1							92.0	94.0	93.0					17																	59770842		2203	4299	6502	SO:0001583	missense	83990	Fanconi_Anemia			DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59770842G>C	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.2524C>G	17.37:g.59770842G>C	ENSP00000259008:p.Leu842Val					BRIP1_uc002izl.1_Missense_Mutation_p.L223V	p.L842V	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			18	2665	-			842					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.2524C>G	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312866	0.81358	.	.	ENSG00000136492	ENST00000259008	D	0.90788	-2.73	5.92	5.92	0.95590	Helicase, ATP-dependent, c2 type (1);	0.000000	0.85682	D	0.000000	D	0.90992	0.7167	N	0.17248	0.465	0.48632	D	0.999686	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.89754	0.3942	9	.	.	.	-15.8079	17.0331	0.86466	0.0:0.0:1.0:0.0	.	842;842	C9JGZ0;Q9BX63	.;FANCJ_HUMAN	V	842	ENSP00000259008:L842V	.	L	-	1	0	BRIP1	57125624	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.299000	0.78831	2.814000	0.96858	0.585000	0.79938	CTT		0.353	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1		NM_032043		17	44	0	0	0	1	0	17	44		
MED13	9969	broad.mit.edu	37	17	60059866	60059866	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:60059866G>C	ENST00000397786.2	-	16	3574	c.3498C>G	c.(3496-3498)ctC>ctG	p.L1166L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1166					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGGTAGCCCTGAGAGCTTCAA	0.348																																						uc002izo.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(3496-3498)CTC>CTG		mediator complex subunit 13							124.0	112.0	116.0					17																	60059866		1870	4110	5980	SO:0001819	synonymous_variant	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60059866G>C	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.3498C>G	17.37:g.60059866G>C							p.L1166L	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			16	3575	-			1166					B2RU05|O60334	Silent	SNP	ENST00000397786.2	37	c.3498C>G	CCDS42366.1																																																																																				0.348	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1		NM_005121		21	109	0	0	0	1	0	21	109		
MED13	9969	broad.mit.edu	37	17	60140470	60140470	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:60140470C>T	ENST00000397786.2	-	2	335	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	87					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTGGGGTCTTCACCCCACCAA	0.418																																						uc002izo.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(259-261)GAA>AAA		mediator complex subunit 13							133.0	137.0	136.0					17																	60140470		1862	4097	5959	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60140470C>T	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.259G>A	17.37:g.60140470C>T	ENSP00000380888:p.Glu87Lys						p.E87K	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			2	336	-			87					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.259G>A	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112368	0.77210	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.79653	-1.29	5.67	4.7	0.59300	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.176684	0.50627	N	0.000114	T	0.76948	0.4059	L	0.55990	1.75	0.44508	D	0.997459	B	0.02656	0.0	B	0.08055	0.003	T	0.73940	-0.3824	10	0.62326	D	0.03	-0.0486	13.7222	0.62735	0.0:0.9248:0.0:0.0752	.	87	Q9UHV7	MED13_HUMAN	K	87	ENSP00000380888:E87K	ENSP00000262436:E87K	E	-	1	0	MED13	57495252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.079000	0.71291	1.355000	0.45865	0.655000	0.94253	GAA		0.418	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1		NM_005121		28	69	0	0	0	1	0	28	69		
TLK2	11011	broad.mit.edu	37	17	60685465	60685465	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:60685465G>A	ENST00000326270.9	+	22	2369	c.2101G>A	c.(2101-2103)Gaa>Aaa	p.E701K	TLK2_ENST00000346027.5_Missense_Mutation_p.E679K|TLK2_ENST00000343388.7_Missense_Mutation_p.E647K|TLK2_ENST00000582809.1_Missense_Mutation_p.E530K|TLK2_ENST00000542523.1_Missense_Mutation_p.E647K	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	701	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TAAAGCTACTGAAGTGCAGTT	0.423																																						uc010ddp.2		NaN																	0				stomach(1)|kidney(1)	2						c.(2101-2103)GAA>AAA		tousled-like kinase 2 isoform A							74.0	76.0	75.0					17																	60685465		2203	4300	6503	SO:0001583	missense	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60685465G>A	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.2101G>A	17.37:g.60685465G>A	ENSP00000316512:p.Glu701Lys					TLK2_uc002izx.3_Missense_Mutation_p.E527K|TLK2_uc002izz.3_Missense_Mutation_p.E679K|TLK2_uc002jaa.3_Missense_Mutation_p.E647K|TLK2_uc010wpd.1_Missense_Mutation_p.E647K	p.E701K	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN			22	2369	+			701			Protein kinase.		D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37	c.2101G>A		.	.	.	.	.	.	.	.	.	.	G	24.9	4.585464	0.86748	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.78	5.78	0.91487	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.094859	0.64402	D	0.000001	T	0.67655	0.2916	N	0.26042	0.785	0.80722	D	1	D;B;B;B	0.53619	0.961;0.107;0.022;0.054	P;B;B;B	0.59115	0.852;0.098;0.098;0.069	T	0.69661	-0.5085	10	0.62326	D	0.03	.	19.0021	0.92838	0.0:0.0:1.0:0.0	.	701;647;679;679	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	K	679;647;701;647	ENSP00000275780:E679K;ENSP00000340800:E647K;ENSP00000316512:E701K;ENSP00000442311:E647K	ENSP00000316512:E701K	E	+	1	0	TLK2	58039197	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.837000	0.99465	2.724000	0.93272	0.563000	0.77884	GAA		0.423	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1		NM_006852		9	28	0	0	0	1	0	9	28		
ACE	1636	broad.mit.edu	37	17	61560831	61560831	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:61560831C>T	ENST00000290866.4	+	10	1522	c.1498C>T	c.(1498-1500)Cag>Tag	p.Q500*	ACE_ENST00000290863.6_5'Flank|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000490216.2_5'Flank|ACE_ENST00000413513.3_5'Flank|ACE_ENST00000428043.1_Nonsense_Mutation_p.Q500*|ACE_ENST00000538928.1_Silent_p.I451I|ACE_ENST00000577647.1_5'Flank|ACE_ENST00000421982.2_5'Flank	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	500	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AACCAAGTATCAGGGGATCTG	0.448																																						uc002jau.1		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(1498-1500)CAG>TAG		angiotensin I converting enzyme 1 isoform 1	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						138.0	123.0	128.0					17																	61560831		2203	4300	6503	SO:0001587	stop_gained	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61560831C>T	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1498C>T	17.37:g.61560831C>T	ENSP00000290866:p.Gln500*					ACE_uc010wpi.1_Silent_p.I451I|ACE_uc010ddu.1_Nonsense_Mutation_p.Q317*|ACE_uc002jav.1_5'Flank|ACE_uc010ddv.1_5'Flank|ACE_uc010wpj.1_5'Flank|ACE_uc002jaw.1_5'Flank|ACE_uc010wpk.1_5'Flank	p.Q500*	NM_000789	NP_000780	P12821	ACE_HUMAN			10	1520	+			500			Extracellular (Potential).|Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Nonsense_Mutation	SNP	ENST00000290866.4	37	c.1498C>T	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	36	5.870509	0.97049	.	.	ENSG00000159640	ENST00000290866;ENST00000428043	.	.	.	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-32.6465	18.2715	0.90070	0.0:1.0:0.0:0.0	.	.	.	.	X	500	.	ENSP00000290866:Q500X	Q	+	1	0	ACE	58914563	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	5.248000	0.65421	2.541000	0.85698	0.455000	0.32223	CAG		0.448	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2				23	76	0	0	0	1	0	23	76		
KCNH6	81033	broad.mit.edu	37	17	61601526	61601526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:61601526C>T	ENST00000583023.1	+	2	114	c.103C>T	c.(103-105)Cag>Tag	p.Q35*	KCNH6_ENST00000581784.1_Nonsense_Mutation_p.Q35*|KCNH6_ENST00000580652.1_Nonsense_Mutation_p.Q35*|KCNH6_ENST00000456941.2_Nonsense_Mutation_p.Q35*|KCNH6_ENST00000314672.5_Nonsense_Mutation_p.Q35*	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	35					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)			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)	TGCCAATGCTCAGATGGAGAA	0.567																																						uc002jay.2		NaN																	0				skin(1)	1						c.(103-105)CAG>TAG		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						213.0	202.0	206.0					17																	61601526		2203	4300	6503	SO:0001587	stop_gained	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61601526C>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.103C>T	17.37:g.61601526C>T	ENSP00000463533:p.Gln35*					KCNH6_uc002jax.1_Nonsense_Mutation_p.Q35*|KCNH6_uc010wpl.1_5'UTR|KCNH6_uc010wpm.1_Nonsense_Mutation_p.Q35*|KCNH6_uc002jaz.1_Nonsense_Mutation_p.Q35*	p.Q35*	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			2	183	+			35			Cytoplasmic (Potential).		Q9BRD7	Nonsense_Mutation	SNP	ENST00000583023.1	37	c.103C>T	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	C	37	6.041478	0.97226	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	.	.	.	5.34	5.34	0.76211	.	0.000000	0.46758	D	0.000279	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.6335	0.91369	0.0:1.0:0.0:0.0	.	.	.	.	X	35	.	ENSP00000318212:Q35X	Q	+	1	0	KCNH6	58955258	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.029000	0.70895	2.500000	0.84329	0.561000	0.74099	CAG		0.567	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1		NM_030779		83	275	0	0	0	1	0	83	275		
FTSJ3	117246	broad.mit.edu	37	17	61901514	61901514	+	Missense_Mutation	SNP	C	C	G	rs373166853		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:61901514C>G	ENST00000427159.2	-	12	1729	c.1084G>C	c.(1084-1086)Gag>Cag	p.E362Q	FTSJ3_ENST00000580295.1_5'Flank	NM_017647.3	NP_060117.3			FtsJ homolog 3 (E. coli)											breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						tcctcctcctcttcctcctcc	0.542																																						uc002jbz.2		NaN																	0				ovary(1)	1						c.(1084-1086)GAG>CAG		FtsJ homolog 3							141.0	147.0	145.0					17																	61901514		2203	4300	6503	SO:0001583	missense	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61901514C>G	AF327355	CCDS11644.1	17q23.3	2014-09-11			ENSG00000108592	ENSG00000108592			17136	protein-coding gene	gene with protein product	"""SPB1 RNA methyltransferase homolog (S. cerevisiae)"""						Standard	NM_017647		Approved	SPB1	uc002jca.3	Q8IY81	OTTHUMG00000179012	ENST00000427159.2:c.1084G>C	17.37:g.61901514C>G	ENSP00000396673:p.Glu362Gln					FTSJ3_uc002jca.2_Missense_Mutation_p.E362Q	p.E362Q	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN			11	1162	-			362						Missense_Mutation	SNP	ENST00000427159.2	37	c.1084G>C	CCDS11644.1	.	.	.	.	.	.	.	.	.	.	C	6.000	0.368484	0.11352	.	.	ENSG00000108592	ENST00000427159	T	0.32515	1.45	1.16	-0.342	0.12635	Ribosomal RNA methyltransferase Spb1, domain of unknown function DUF3381 (1);	0.371234	0.27130	N	0.020787	T	0.15696	0.0378	L	0.32530	0.975	0.24208	N	0.995485	B	0.32010	0.351	B	0.32022	0.139	T	0.20140	-1.0284	10	0.15066	T	0.55	-20.8772	3.382	0.07257	0.0:0.6093:0.0:0.3907	.	362	Q8IY81	RRMJ3_HUMAN	Q	362	ENSP00000396673:E362Q	ENSP00000396673:E362Q	E	-	1	0	FTSJ3	59255246	0.200000	0.23398	0.735000	0.30896	0.944000	0.59088	0.676000	0.25247	-0.257000	0.09459	0.089000	0.15464	GAG		0.542	FTSJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444386.1				51	177	0	0	0	1	0	51	177		
CEP95	90799	broad.mit.edu	37	17	62533747	62533747	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:62533747G>A	ENST00000556440.2	+	20	2826	c.2316G>A	c.(2314-2316)ctG>ctA	p.L772L	CEP95_ENST00000553412.1_Silent_p.L608L	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	772						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						AGAGGGAGCTGAGATCTAAGA	0.453																																						uc002jem.2		NaN																	0					0						c.(2314-2316)CTG>CTA		coiled-coil domain containing 45							74.0	73.0	73.0					17																	62533747		1992	4164	6156	SO:0001819	synonymous_variant	90799					centrosome|spindle pole	protein binding	g.chr17:62533747G>A	AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.2316G>A	17.37:g.62533747G>A						CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Silent_p.L608L	p.L772L	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		20	2374	+	Breast(5;1.32e-14)		772			Potential.		B4DMD2|Q96M81	Silent	SNP	ENST00000556440.2	37	c.2316G>A	CCDS45763.1																																																																																				0.453	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2		NM_138363		12	26	0	0	0	1	0	12	26		
RGS9	8787	broad.mit.edu	37	17	63156421	63156421	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:63156421C>G	ENST00000262406.9	+	4	343	c.276C>G	c.(274-276)ctC>ctG	p.L92L	RGS9_ENST00000449996.3_Silent_p.L92L|RGS9_ENST00000443584.3_Silent_p.L92L|RGS9_ENST00000577186.1_3'UTR	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	92	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCAAGAATCTCATTCTCAAGC	0.478																																						uc002jfe.2		NaN																	0				ovary(2)|skin(2)	4						c.(274-276)CTC>CTG		regulator of G-protein signaling 9 isoform 1							91.0	85.0	87.0					17																	63156421		1889	4113	6002	SO:0001819	synonymous_variant	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63156421C>G	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.276C>G	17.37:g.63156421C>G						RGS9_uc010dem.2_Silent_p.L92L|RGS9_uc002jfd.2_Silent_p.L92L|RGS9_uc002jff.2_RNA	p.L92L	NM_003835	NP_003826	O75916	RGS9_HUMAN			4	386	+			92			DEP.		A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Silent	SNP	ENST00000262406.9	37	c.276C>G	CCDS42373.1																																																																																				0.478	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1		NM_003835		24	84	0	0	0	1	0	24	84		
AXIN2	8313	broad.mit.edu	37	17	63545744	63545744	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:63545744G>A	ENST00000375702.5	-	2	958	c.850C>T	c.(850-852)Cac>Tac	p.H284Y	CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000307078.5_Missense_Mutation_p.H284Y			Q9Y2T1	AXIN2_HUMAN	axin 2	284					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GAACCTATGTGATAAGGATTA	0.502									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													uc002jfi.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(850-852)CAC>TAC		axin 2							147.0	105.0	119.0					17																	63545744		2203	4300	6503	SO:0001583	missense	8313	Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63545744G>A	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.850C>T	17.37:g.63545744G>A	ENSP00000364854:p.His284Tyr					AXIN2_uc010den.1_Missense_Mutation_p.H284Y|AXIN2_uc002jfh.2_Missense_Mutation_p.H284Y	p.H284Y	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN			3	1139	-			284					Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37	c.850C>T		.	.	.	.	.	.	.	.	.	.	G	4.716	0.133108	0.09032	.	.	ENSG00000168646	ENST00000307078;ENST00000375702	D;D	0.82711	-1.64;-1.64	5.91	5.91	0.95273	.	0.235946	0.51477	D	0.000088	T	0.72700	0.3493	L	0.27053	0.805	0.47441	D	0.999425	P;B;P	0.50617	0.937;0.123;0.937	B;B;B	0.40410	0.328;0.061;0.328	T	0.72408	-0.4303	10	0.02654	T	1	-32.6878	20.2985	0.98592	0.0:0.0:1.0:0.0	.	284;284;284	B7ZKL5;Q9Y2T1;E7ES00	.;AXIN2_HUMAN;.	Y	284	ENSP00000302625:H284Y;ENSP00000364854:H284Y	ENSP00000302625:H284Y	H	-	1	0	AXIN2	60976206	1.000000	0.71417	0.925000	0.36789	0.356000	0.29392	4.617000	0.61204	2.793000	0.96121	0.655000	0.94253	CAC		0.502	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1		NM_004655		6	23	0	0	0	1	0	6	23		
WIPI1	55062	broad.mit.edu	37	17	66423333	66423333	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:66423333G>A	ENST00000262139.5	-	11	1134	c.1135C>T	c.(1135-1137)Cag>Tag	p.Q379*	MIR635_ENST00000384830.1_RNA|WIPI1_ENST00000589459.1_5'UTR|RP11-120M18.2_ENST00000592030.1_RNA|WIPI1_ENST00000546360.1_Nonsense_Mutation_p.Q297*	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	379					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						GCATAAGACTGAGGTAAGGAA	0.502																																						uc010dey.2		NaN																	0					0						c.(1135-1137)CAG>TAG		WD repeat domain, phosphoinositide interacting							357.0	280.0	306.0					17																	66423333		2203	4300	6503	SO:0001587	stop_gained	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66423333G>A		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.1135C>T	17.37:g.66423333G>A	ENSP00000262139:p.Gln379*					WIPI1_uc002jhd.3_RNA|WIPI1_uc010wqo.1_Nonsense_Mutation_p.Q297*|WIPI1_uc002jhe.3_RNA|MIR635_hsa-mir-635|MI0003650_5'Flank	p.Q379*	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN			11	1226	-			379					Q8IXM5|Q9NWF8	Nonsense_Mutation	SNP	ENST00000262139.5	37	c.1135C>T	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	G	38	6.824863	0.97865	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	.	.	.	5.64	5.64	0.86602	.	0.315565	0.35349	N	0.003274	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-12.4755	15.2125	0.73238	0.0:0.1401:0.8598:0.0	.	.	.	.	X	379;297	.	ENSP00000262139:Q379X	Q	-	1	0	WIPI1	63934928	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.631000	0.74277	2.657000	0.90304	0.655000	0.94253	CAG		0.502	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1		NM_017983		21	86	0	0	0	1	0	21	86		
PRKAR1A	5573	broad.mit.edu	37	17	66526076	66526076	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:66526076C>G	ENST00000589228.1	+	10	1035	c.907C>G	c.(907-909)Cta>Gta	p.L303V	PRKAR1A_ENST00000536854.2_Missense_Mutation_p.L303V|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.L303V|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.L303V|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.L303V|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.L303V	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	303					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					AGCTGCTGTGCTACAACGTCG	0.393			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)	uc002jhg.2		NaN	yes	"""Dom, Rec"""	yes	Carney complex	17	17q23-q24	5573	T|Mis|N|F|S	"""protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"""			"""E, M"""	RET	myxoma|endocrine|papillary thyroid	papillary thyroid		0				adrenal_gland(4)|lung(3)|thyroid(2)|soft_tissue(2)|breast(1)	12						c.(907-909)CTA>GTA		cAMP-dependent protein kinase, regulatory							225.0	231.0	229.0					17																	66526076		2203	4300	6503	SO:0001583	missense	5573	Carney_Complex|Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial|Cardiac_Myxomas_Familial_Clustering_of	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding	g.chr17:66526076C>G		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"""Carney complex type 1"""	188830	"""tissue specific extinguisher 1"""	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.907C>G	17.37:g.66526076C>G	ENSP00000464977:p.Leu303Val					PRKAR1A_uc002jhh.2_Missense_Mutation_p.L303V|PRKAR1A_uc002jhi.2_Missense_Mutation_p.L303V|PRKAR1A_uc002jhj.2_Missense_Mutation_p.L303V|PRKAR1A_uc002jhk.2_Missense_Mutation_p.L179V|PRKAR1A_uc002jhl.2_Missense_Mutation_p.L303V|PRKAR1A_uc002jhm.2_Missense_Mutation_p.L303V	p.L303V	NM_212471	NP_997636	P10644	KAP0_HUMAN			10	1087	+	Breast(10;1.64e-13)		303			cAMP 2.		K7ER48|Q567S7	Missense_Mutation	SNP	ENST00000589228.1	37	c.907C>G	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272920	0.80580	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	D;D;D	0.92249	-3.0;-3.0;-3.0	5.99	5.99	0.97316	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.069994	0.64402	N	0.000015	D	0.87079	0.6088	L	0.28014	0.82	0.80722	D	1	B;B	0.28291	0.206;0.206	B;B	0.36666	0.23;0.23	T	0.82778	-0.0289	10	0.44086	T	0.13	-16.0522	7.8809	0.29621	0.0:0.8124:0.0:0.1876	.	303;303	B2R5T5;P10644	.;KAP0_HUMAN	V	303	ENSP00000351410:L303V;ENSP00000376475:L303V;ENSP00000445625:L303V	ENSP00000351410:L303V	L	+	1	2	PRKAR1A	64037671	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	2.359000	0.44142	2.843000	0.97960	0.591000	0.81541	CTA		0.393	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1				34	103	0	0	0	1	0	34	103		
ABCA8	10351	broad.mit.edu	37	17	66890330	66890331	+	Nonsense_Mutation	DNP	CT	CT	TA			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:66890330_66890331CT>TA	ENST00000269080.2	-	21	3036_3037	c.2899_2900AG>TA	c.(2899-2901)AGa>TAa	p.R967*	ABCA8_ENST00000430352.2_Nonsense_Mutation_p.R1007*|ABCA8_ENST00000586539.1_Nonsense_Mutation_p.R1007*	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	967					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R967I(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AAATGTACTTCTTTCAGTTCGG	0.366																																						uc002jhp.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|skin(1)	3						c.(2899-2901)AGA>TAA		ATP-binding cassette, sub-family A member 8																																				SO:0001587	stop_gained	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66890330_66890331CT>TA	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2899_2900delinsTA	17.37:g.66890330_66890331delinsTA	ENSP00000269080:p.Arg967*					ABCA8_uc002jhq.2_Nonsense_Mutation_p.R1007*|ABCA8_uc010wqq.1_Nonsense_Mutation_p.R1007*|ABCA8_uc010wqr.1_Nonsense_Mutation_p.R946*|ABCA8_uc002jhr.2_Nonsense_Mutation_p.R1007*	p.R967*	NM_007168	NP_009099	O94911	ABCA8_HUMAN			21	3078_3079	-	Breast(10;4.56e-13)		967					A1L3U3|C9JQE6|Q86WW0	Nonsense_Mutation	DNP	ENST00000269080.2	37	c.2899_2900AG>TA	CCDS11680.1																																																																																				0.366	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1		NM_007168		5	25	0	0	0	1	0	5	25		
ABCA8	10351	broad.mit.edu	37	17	66890366	66890366	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:66890366C>A	ENST00000269080.2	-	21	3001	c.2864G>T	c.(2863-2865)gGa>gTa	p.G955V	ABCA8_ENST00000430352.2_Missense_Mutation_p.G995V|ABCA8_ENST00000586539.1_Missense_Mutation_p.G995V	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	955					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTTAACCATTCCAAGTAGCCC	0.343																																						uc002jhp.2		NaN																	0				ovary(2)|skin(1)	3						c.(2863-2865)GGA>GTA		ATP-binding cassette, sub-family A member 8							76.0	70.0	72.0					17																	66890366		2203	4298	6501	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66890366C>A	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2864G>T	17.37:g.66890366C>A	ENSP00000269080:p.Gly955Val					ABCA8_uc002jhq.2_Missense_Mutation_p.G995V|ABCA8_uc010wqq.1_Missense_Mutation_p.G995V|ABCA8_uc010wqr.1_Missense_Mutation_p.G934V|ABCA8_uc002jhr.2_Missense_Mutation_p.G995V	p.G955V	NM_007168	NP_009099	O94911	ABCA8_HUMAN			21	3043	-	Breast(10;4.56e-13)		955					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.2864G>T	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202073	0.38905	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.87029	-2.2;-2.2	5.08	2.0	0.26442	.	0.664015	0.13724	N	0.367186	D	0.90521	0.7030	M	0.78637	2.42	0.50813	D	0.999897	P;D;P;P;D	0.53151	0.948;0.958;0.913;0.794;0.958	P;D;P;P;P	0.65573	0.578;0.936;0.459;0.578;0.703	D	0.86384	0.1731	10	0.33940	T	0.23	.	4.6247	0.12472	0.0:0.624:0.1837:0.1923	.	934;995;995;995;955	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	V	955;995;934	ENSP00000269080:G955V;ENSP00000402814:G995V	ENSP00000269080:G955V	G	-	2	0	ABCA8	64401961	0.007000	0.16637	1.000000	0.80357	0.680000	0.39746	0.855000	0.27805	0.822000	0.34565	-0.176000	0.13171	GGA		0.343	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1		NM_007168		6	24	1	0	3.59834e-05	1	3.66325e-05	6	24		
ABCA10	10349	broad.mit.edu	37	17	67152011	67152011	+	Missense_Mutation	SNP	C	C	G	rs140554607		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:67152011C>G	ENST00000269081.4	-	30	4420	c.3511G>C	c.(3511-3513)Gat>Cat	p.D1171H	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1171					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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)					ACATCTTCATCTTCTTCTTCG	0.423																																						uc010dfa.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(3511-3513)GAT>CAT		ATP-binding cassette, sub-family A, member 10		C	HIS/ASP	0,4406		0,0,2203	158.0	143.0	148.0		3511	2.9	1.0	17	dbSNP_134	148	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCA10	NM_080282.3	81	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging	1171/1544	67152011	1,13005	2203	4300	6503	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67152011C>G	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.3511G>C	17.37:g.67152011C>G	ENSP00000269081:p.Asp1171His					ABCA10_uc010wqs.1_Missense_Mutation_p.D163H|ABCA10_uc010wqt.1_RNA	p.D1171H	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			30	4390	-	Breast(10;6.95e-12)		1171					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.3511G>C	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.782670	0.70222	0.0	1.16E-4	ENSG00000154263	ENST00000269081	D	0.91792	-2.91	2.92	2.92	0.33932	.	0.563583	0.12826	U	0.436017	D	0.96617	0.8896	H	0.97291	3.975	0.80722	D	1	D;P	0.54772	0.968;0.947	P;P	0.54140	0.743;0.637	D	0.97622	1.0136	10	0.87932	D	0	.	13.835	0.63404	0.0:1.0:0.0:0.0	.	163;1171	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	H	1171	ENSP00000269081:D1171H	ENSP00000269081:D1171H	D	-	1	0	ABCA10	64663606	0.999000	0.42202	0.982000	0.44146	0.931000	0.56810	4.055000	0.57441	1.602000	0.50124	0.557000	0.71058	GAT		0.423	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4		NM_080282		18	95	0	0	0	1	0	18	95		
CD300LD	100131439	broad.mit.edu	37	17	72584728	72584728	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:72584728C>A	ENST00000375352.1	-	2	381	c.301G>T	c.(301-303)Gat>Tat	p.D101Y	C17orf77_ENST00000328023.2_5'Flank|C17orf77_ENST00000392620.1_Intron	NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	101	Ig-like V-type.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						CTGTCAGCATCATCTCTTTTG	0.443																																						uc002jkz.2		NaN																	0					0						c.(301-303)GAT>TAT		CD300 molecule-like family member d precursor							304.0	248.0	265.0					17																	72584728		1568	3582	5150	SO:0001583	missense	100131439					integral to membrane|plasma membrane	receptor activity	g.chr17:72584728C>A		CCDS42379.1	17q25.1	2014-05-15			ENSG00000204345	ENSG00000204345		"""Immunoglobulin superfamily / V-set domain containing"""	16848	protein-coding gene	gene with protein product						22291008	Standard	NM_001115152		Approved	CMRF35A4, CD300D	uc002jkz.2	Q6UXZ3	OTTHUMG00000067614	ENST00000375352.1:c.301G>T	17.37:g.72584728C>A	ENSP00000364501:p.Asp101Tyr					C17orf77_uc002jla.1_Intron	p.D101Y	NM_001115152	NP_001108624	Q6UXZ3	CLM4_HUMAN			2	330	-			101			Extracellular (Potential).|Ig-like V-type.			Missense_Mutation	SNP	ENST00000375352.1	37	c.301G>T	CCDS42379.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696550	0.48202	.	.	ENSG00000204345	ENST00000375352	D	0.88124	-2.34	4.67	2.62	0.31277	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.145733	0.30302	N	0.009930	D	0.94453	0.8215	H	0.96142	3.775	0.28087	N	0.931959	D	0.89917	1.0	D	0.97110	1.0	D	0.88142	0.2845	10	0.87932	D	0	.	7.6659	0.28430	0.1624:0.748:0.0:0.0896	.	101	Q6UXZ3	CLM4_HUMAN	Y	101	ENSP00000364501:D101Y	ENSP00000364501:D101Y	D	-	1	0	CD300LD	70096323	0.134000	0.22483	0.012000	0.15200	0.160000	0.22226	0.914000	0.28624	0.501000	0.28013	0.561000	0.74099	GAT		0.443	CD300LD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145099.1		NM_001115152		14	155	1	0	9.31168e-06	1	9.53124e-06	14	155		
NUP85	79902	broad.mit.edu	37	17	73208116	73208116	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:73208116C>T	ENST00000245544.4	+	4	391	c.320C>T	c.(319-321)tCa>tTa	p.S107L	NUP85_ENST00000541827.1_Missense_Mutation_p.S61L|NUP85_ENST00000447371.2_5'UTR|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000579298.1_Missense_Mutation_p.S107L|NUP85_ENST00000579324.1_5'UTR	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	107					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			AACTACCGATCAGTCATCAGA	0.458																																						uc002jng.1		NaN																	0				ovary(1)	1						c.(319-321)TCA>TTA		nucleoporin 85							133.0	108.0	117.0					17																	73208116		2203	4300	6503	SO:0001583	missense	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73208116C>T	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.320C>T	17.37:g.73208116C>T	ENSP00000245544:p.Ser107Leu					NUP85_uc010dgd.1_Missense_Mutation_p.S107L|NUP85_uc010wrv.1_Missense_Mutation_p.S61L	p.S107L	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		4	580	+	all_lung(278;0.14)|Lung NSC(278;0.168)		107					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	ENST00000245544.4	37	c.320C>T	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659549	0.88154	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000449421	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.76314	0.3970	M	0.84326	2.69	0.80722	D	1	D;D	0.58970	0.984;0.984	P;P	0.57720	0.792;0.826	T	0.77064	-0.2726	9	0.38643	T	0.18	-8.5403	14.3518	0.66708	0.0:0.8517:0.1483:0.0	.	61;107	B4DMQ3;Q9BW27	.;NUP85_HUMAN	L	107;61;61	.	ENSP00000245544:S107L	S	+	2	0	NUP85	70719711	1.000000	0.71417	0.990000	0.47175	0.980000	0.70556	6.071000	0.71229	2.513000	0.84729	0.591000	0.81541	TCA		0.458	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1		NM_024844		6	35	0	0	0	1	0	6	35		
MRPS7	51081	broad.mit.edu	37	17	73258675	73258675	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:73258675G>A	ENST00000245539.6	+	2	408	c.181G>A	c.(181-183)Gag>Aag	p.E61K	GGA3_ENST00000579743.1_5'Flank|GGA3_ENST00000578348.1_5'Flank|GGA3_ENST00000537686.1_5'Flank|GGA3_ENST00000538886.1_5'Flank|GGA3_ENST00000582486.1_5'Flank|GGA3_ENST00000351904.7_5'Flank|GGA3_ENST00000245541.6_5'Flank|MRPS7_ENST00000579002.1_Missense_Mutation_p.E90K|GGA3_ENST00000582717.1_5'Flank|MRPS7_ENST00000579761.1_Missense_Mutation_p.E61K	NM_015971.3	NP_057055.2	Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	61					translation (GO:0006412)	cytosolic small ribosomal subunit (GO:0022627)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			GCTAACTGAGGAGGAGAAATA	0.473																																						uc002jnm.3		NaN																	0		p.E61E(1)		central_nervous_system(1)	1						c.(181-183)GAG>AAG		mitochondrial ribosomal protein S7 precursor							149.0	156.0	154.0					17																	73258675		2203	4300	6503	SO:0001583	missense	51081				translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome	g.chr17:73258675G>A	AB051348	CCDS11718.1	17q25.1	2012-09-13				ENSG00000125445		"""Mitochondrial ribosomal proteins / small subunits"""	14499	protein-coding gene	gene with protein product		611974					Standard	NM_015971		Approved	MRP-S, RP-S7, RPMS7	uc002jnm.4	Q9Y2R9		ENST00000245539.6:c.181G>A	17.37:g.73258675G>A	ENSP00000245539:p.Glu61Lys					GGA3_uc002jni.1_5'Flank|GGA3_uc002jnj.1_5'Flank|GGA3_uc010wrw.1_5'Flank|GGA3_uc002jnk.1_5'Flank|GGA3_uc010wrx.1_5'Flank|GGA3_uc010wry.1_5'Flank|GGA3_uc010wrz.1_5'Flank|MRPS7_uc002jnl.2_Missense_Mutation_p.E61K|MRPS7_uc002jnn.3_Missense_Mutation_p.E90K	p.E61K	NM_015971	NP_057055	Q9Y2R9	RT07_HUMAN	all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)		2	414	+	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		61					B2R9N5|Q53GD6	Missense_Mutation	SNP	ENST00000245539.6	37	c.181G>A	CCDS11718.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429405	0.62844	.	.	ENSG00000125445	ENST00000245539	T	0.45276	0.9	5.72	5.72	0.89469	Ribosomal protein S7 domain (2);	0.045930	0.85682	D	0.000000	T	0.59582	0.2204	M	0.64404	1.975	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.57946	-0.7723	10	0.48119	T	0.1	-30.7185	15.3686	0.74545	0.0:0.1388:0.8612:0.0	.	61	Q9Y2R9	RT07_HUMAN	K	61	ENSP00000245539:E61K	ENSP00000245539:E61K	E	+	1	0	MRPS7	70770270	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	5.302000	0.65733	2.696000	0.92011	0.650000	0.86243	GAG		0.473	MRPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446666.1		NM_015971		45	188	0	0	0	1	0	45	188		
ITGB4	3691	broad.mit.edu	37	17	73725400	73725400	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:73725400C>T	ENST00000200181.3	+	7	808	c.621C>T	c.(619-621)atC>atT	p.I207I	ITGB4_ENST00000449880.2_Silent_p.I207I|ITGB4_ENST00000450894.3_Silent_p.I207I|ITGB4_ENST00000579662.1_Silent_p.I207I|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Silent_p.I207I	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	207	VWFA.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGAACGTCATCAGCCTGACAG	0.597																																						uc002jpg.2		NaN																	0				lung(4)	4						c.(619-621)ATC>ATT		integrin beta 4 isoform 1 precursor							104.0	92.0	96.0					17																	73725400		2203	4300	6503	SO:0001819	synonymous_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73725400C>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.621C>T	17.37:g.73725400C>T						ITGB4_uc002jph.2_Silent_p.I207I|ITGB4_uc010dgo.2_Silent_p.I207I|ITGB4_uc002jpi.3_Silent_p.I207I|ITGB4_uc010dgp.1_Silent_p.I207I|ITGB4_uc002jpj.2_Silent_p.I207I|ITGB4_uc010wsh.1_5'Flank	p.I207I	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		7	808	+	all_cancers(13;1.5e-07)		207			VWFA.|Extracellular (Potential).		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	c.621C>T	CCDS11727.1																																																																																				0.597	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1				19	79	0	0	0	1	0	19	79		
FBF1	85302	broad.mit.edu	37	17	73919562	73919562	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:73919562C>G	ENST00000586717.1	-	13	1360	c.1087G>C	c.(1087-1089)Gag>Cag	p.E363Q	FBF1_ENST00000319129.5_Missense_Mutation_p.E362Q|FBF1_ENST00000389570.4_Missense_Mutation_p.E363Q			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	363					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						CGATGGGCCTCTCTGGTGGGT	0.652																																						uc002jqc.2		NaN																	0					0						c.(1084-1086)GAG>CAG		Fas (TNFRSF6) binding factor 1							26.0	31.0	30.0					17																	73919562		2067	4194	6261	SO:0001583	missense	85302							g.chr17:73919562C>G	AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"""albatross"""					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.1087G>C	17.37:g.73919562C>G	ENSP00000465132:p.Glu363Gln					FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.E353Q|FBF1_uc002jqd.1_Missense_Mutation_p.E363Q|FBF1_uc010dgr.1_5'Flank	p.E362Q	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN			13	1358	-			362					B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000586717.1	37	c.1084G>C		.	.	.	.	.	.	.	.	.	.	C	11.72	1.722948	0.30503	.	.	ENSG00000188878	ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.20881	2.04;2.04	4.2	3.21	0.36854	.	.	.	.	.	T	0.27967	0.0689	L	0.51422	1.61	0.09310	N	1	D;D;P	0.56746	0.971;0.977;0.873	P;P;P	0.53593	0.725;0.73;0.466	T	0.06373	-1.0830	9	0.42905	T	0.14	-20.6254	7.0417	0.25023	0.0:0.7849:0.0:0.2151	.	377;363;362	Q8TES7-6;Q8TES7;A6NLR5	.;FBF1_HUMAN;.	Q	363;363;362;376	ENSP00000374221:E363Q;ENSP00000324292:E362Q	ENSP00000324292:E362Q	E	-	1	0	FBF1	71431157	0.616000	0.27035	0.495000	0.27527	0.266000	0.26442	2.093000	0.41710	0.956000	0.37904	0.561000	0.74099	GAG		0.652	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2		NM_001080542		4	14	0	0	0	1	0	4	14		
PGS1	9489	broad.mit.edu	37	17	76422558	76422558	+	IGR	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:76422558C>G	ENST00000262764.6	+	0	2201				DNAH17_ENST00000586052.1_5'UTR|AC061992.1_ENST00000600087.1_Silent_p.V50V|DNAH17_ENST00000389840.5_Missense_Mutation_p.D4322H|DNAH17_ENST00000585328.1_Missense_Mutation_p.D4294H	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			AGCAGCAGGTCTGCGTACCAG	0.627																																					Esophageal Squamous(45;182 1126 10685 43198)	uc010dhp.1		NaN																	0				ovary(6)|breast(2)|skin(1)	9						c.(3895-3897)GAC>CAC		SubName: Full=DNAH17 variant protein; Flags: Fragment;							42.0	43.0	43.0					17																	76422558		2203	4300	6503	SO:0001628	intergenic_variant	8632							g.chr17:76422558C>G		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8			17.37:g.76422558C>G						DNAH17_uc002jvq.2_Missense_Mutation_p.D584H|DNAH17_uc002jvs.2_RNA	p.D1299H					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		24	4117	-								B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	c.3895G>C	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138053	0.77775	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.12255	2.7	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000012	T	0.44030	0.1274	M	0.87900	2.915	0.50039	D	0.999843	D	0.89917	1.0	D	0.85130	0.997	T	0.51442	-0.8705	10	0.87932	D	0	.	16.4155	0.83732	0.0:1.0:0.0:0.0	.	4294	E7EUM8	.	H	4294;4322	ENSP00000374490:D4322H	ENSP00000300671:D4294H	D	-	1	0	DNAH17	73934153	1.000000	0.71417	0.970000	0.41538	0.836000	0.47400	5.371000	0.66150	2.520000	0.84964	0.655000	0.94253	GAC		0.627	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1		NM_024419		14	31	0	0	0	1	0	14	31		
DNAH17	8632	broad.mit.edu	37	17	76557991	76557991	+	Silent	SNP	G	G	C	rs536181650	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:76557991G>C	ENST00000585328.1	-	12	1765	c.1641C>G	c.(1639-1641)gtC>gtG	p.V547V	DNAH17_ENST00000389840.5_Silent_p.V547V	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	547	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCTCCAGCATGACTGAATACC	0.577																																						uc002jvv.1		NaN																	0				ovary(6)|breast(2)|skin(1)	9						c.(745-747)GTC>GTG		RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;							41.0	41.0	41.0					17																	76557991		2203	4300	6503	SO:0001819	synonymous_variant	8632							g.chr17:76557991G>C	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.1641C>G	17.37:g.76557991G>C							p.V249V					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		8	853	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.747C>G																																																																																					0.577	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2		NM_173628		7	31	0	0	0	1	0	7	31		
USP36	57602	broad.mit.edu	37	17	76831483	76831483	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:76831483G>A	ENST00000542802.3	-	4	797	c.354C>T	c.(352-354)ttC>ttT	p.F118F	USP36_ENST00000312010.6_Silent_p.F118F|USP36_ENST00000590546.2_Silent_p.F118F|USP36_ENST00000589424.1_Silent_p.F118F			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	118					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CGCCCACGCGGAAGACCCGCT	0.592																																						uc002jvz.1		NaN																	0				lung(2)|ovary(1)|breast(1)|kidney(1)	5						c.(352-354)TTC>TTT		ubiquitin specific peptidase 36							145.0	97.0	113.0					17																	76831483		2203	4300	6503	SO:0001819	synonymous_variant	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76831483G>A	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.354C>T	17.37:g.76831483G>A						USP36_uc002jwa.1_Silent_p.F118F|USP36_uc002jwd.1_Silent_p.F118F	p.F118F	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		4	679	-			118					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Silent	SNP	ENST00000542802.3	37	c.354C>T	CCDS32755.1																																																																																				0.592	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3		NM_025090		9	41	0	0	0	1	0	9	41		
CCDC40	55036	broad.mit.edu	37	17	78061848	78061848	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:78061848G>A	ENST00000397545.4	+	16	2685	c.2658G>A	c.(2656-2658)ctG>ctA	p.L886L	CCDC40_ENST00000374877.3_Silent_p.L886L	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	886					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGACAAGCTGAACCAGCTCA	0.617																																						uc010dht.2		NaN																	0				ovary(3)	3						c.(2656-2658)CTG>CTA		coiled-coil domain containing 40							60.0	66.0	64.0					17																	78061848		2078	4204	6282	SO:0001819	synonymous_variant	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78061848G>A	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.2658G>A	17.37:g.78061848G>A						CCDC40_uc002jxm.3_Silent_p.L669L|CCDC40_uc002jxn.3_Silent_p.L282L	p.L886L	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		16	2685	+	all_neural(118;0.167)		886			Potential.		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	ENST00000397545.4	37	c.2658G>A	CCDS42395.1																																																																																				0.617	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2		XM_371082		18	57	0	0	0	1	0	18	57		
RNF213	57674	broad.mit.edu	37	17	78328356	78328356	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:78328356C>G	ENST00000582970.1	+	36	10985	c.10842C>G	c.(10840-10842)ctC>ctG	p.L3614L	RNF213_ENST00000336301.6_Silent_p.L1687L|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.L3663L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3614					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGGACGCTCTCCAGGAGGCGG	0.547																																						uc002jyh.1		NaN																	0				ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(5059-5061)CTC>CTG		ring finger protein 213							52.0	49.0	50.0					17																	78328356		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78328356C>G	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.10842C>G	17.37:g.78328356C>G						uc002jyi.1_RNA|RNF213_uc010dhw.1_Silent_p.L69L	p.L1687L	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		11	5284	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.5061C>G	CCDS58606.1																																																																																				0.547	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1		NM_020914		14	52	0	0	0	1	0	14	52		
NOTUM	147111	broad.mit.edu	37	17	79918540	79918540	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:79918540C>T	ENST00000409678.3	-	1	629	c.246G>A	c.(244-246)gcG>gcA	p.A82A		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	82						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TGAGCTGCTGCGCGGAGCAGG	0.662																																						uc010wvg.1		NaN																	0					0						c.(244-246)GCG>GCA		notum pectinacetylesterase homolog precursor							31.0	22.0	25.0					17																	79918540		2189	4289	6478	SO:0001819	synonymous_variant	147111					extracellular region	hydrolase activity	g.chr17:79918540C>T	BC060882	CCDS32771.2	17q25.3	2008-02-05			ENSG00000185269	ENSG00000185269			27106	protein-coding gene	gene with protein product		609847					Standard	NM_178493		Approved		uc010wvg.2	Q6P988	OTTHUMG00000154416	ENST00000409678.3:c.246G>A	17.37:g.79918540C>T							p.A82A	NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		1	518	-	all_neural(118;0.0878)|Ovarian(332;0.12)		82					Q8N410|Q8NI82	Silent	SNP	ENST00000409678.3	37	c.246G>A	CCDS32771.2																																																																																				0.662	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335123.2		NM_178493		9	18	0	0	0	1	0	9	18		
ASPSCR1	79058	broad.mit.edu	37	17	79941448	79941448	+	Silent	SNP	C	C	T	rs373929219		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:79941448C>T	ENST00000306739.4	+	3	274	c.177C>T	c.(175-177)ctC>ctT	p.L59L	ASPSCR1_ENST00000581647.1_Silent_p.L59L|ASPSCR1_ENST00000306729.7_Silent_p.L59L|ASPSCR1_ENST00000580534.1_5'UTR	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	59					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGAGCGTGCTCGACCTTTCTC	0.627			T	TFE3	alveolar soft part sarcoma																																	uc002kcx.2		NaN		Dom	yes		17	17q25	79058	T	"""alveolar soft part sarcoma chromosome region, candidate 1"""			M	TFE3		alveolar soft part sarcoma	ASPSCR1/TFE3(161)	0				soft_tissue(118)|kidney(43)|breast(1)	162						c.(175-177)CTC>CTT		alveolar soft part sarcoma chromosome region,		C		0,4406		0,0,2203	102.0	81.0	88.0		177	-7.8	0.6	17		88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ASPSCR1	NM_024083.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		59/554	79941448	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79058						protein binding	g.chr17:79941448C>T	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.177C>T	17.37:g.79941448C>T						ASPSCR1_uc002kcw.1_Silent_p.L59L|ASPSCR1_uc002kcy.2_Silent_p.L59L|ASPSCR1_uc002kcz.2_Silent_p.L59L|ASPSCR1_uc002kda.2_5'UTR|ASPSCR1_uc002kdb.1_5'UTR	p.L59L	NM_024083	NP_076988	Q9BZE9	ASPC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		3	274	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		59					A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Silent	SNP	ENST00000306739.4	37	c.177C>T	CCDS11796.1																																																																																				0.627	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1		NM_024083		9	21	0	0	0	1	0	9	21		
LRRC45	201255	broad.mit.edu	37	17	79988621	79988621	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:79988621G>A	ENST00000306688.3	+	17	2295	c.1953G>A	c.(1951-1953)caG>caA	p.Q651Q	RAC3_ENST00000306897.4_5'Flank	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	651						centrosome (GO:0005813)				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCTTCCTGCAGAACGCCGTCC	0.697																																						uc002kde.2		NaN																	0				pancreas(1)	1						c.(1951-1953)CAG>CAA		leucine rich repeat containing 45							11.0	15.0	14.0					17																	79988621		2170	4258	6428	SO:0001819	synonymous_variant	201255					centrosome		g.chr17:79988621G>A	BC014109	CCDS11797.1	17q25.3	2005-08-09				ENSG00000169683			28302	protein-coding gene	gene with protein product						12477932	Standard	NM_144999		Approved	MGC20806	uc002kde.3	Q96CN5		ENST00000306688.3:c.1953G>A	17.37:g.79988621G>A						RAC3_uc002kdf.2_5'Flank	p.Q651Q	NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		17	2193	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		651						Silent	SNP	ENST00000306688.3	37	c.1953G>A	CCDS11797.1																																																																																				0.697	LRRC45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442058.1		NM_144999		12	15	0	0	0	1	0	12	15		
SLC16A3	9123	broad.mit.edu	37	17	80196577	80196577	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80196577G>A	ENST00000581287.1	+	4	3445		c.e4-1		SLC16A3_ENST00000582743.1_Splice_Site|SLC16A3_ENST00000392339.1_Splice_Site|SLC16A3_ENST00000392341.1_Splice_Site	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3						blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|leukocyte migration (GO:0050900)|monocarboxylic acid transport (GO:0015718)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|poly(A) RNA binding (GO:0044822)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Gamma Hydroxybutyric Acid(DB01440)|Niacin(DB00627)|Pyruvic acid(DB00119)	TCTTCCCGCAGGCAAACTCCT	0.642																																					Pancreas(52;652 1135 19190 37282 52456)	uc002kea.2		NaN																	0				upper_aerodigestive_tract(1)|lung(1)	2						c.e5-1		solute carrier family 16, member 3	Pyruvic acid(DB00119)						30.0	22.0	25.0					17																	80196577		2194	4294	6488	SO:0001630	splice_region_variant	9123				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:80196577G>A	U81800	CCDS11804.1	17q25.3	2013-07-18	2013-07-18		ENSG00000141526	ENSG00000141526		"""Solute carriers"""	10924	protein-coding gene	gene with protein product		603877	"""solute carrier family 16 (monocarboxylic acid transporters), member 3"", ""solute carrier family 16, member 3 (monocarboxylic acid transporter 4)"""			9425115	Standard	NM_004207		Approved	MCT3, MCT4	uc021ufm.1	O15427	OTTHUMG00000178832	ENST00000581287.1:c.1124-1G>A	17.37:g.80196577G>A						SLC16A3_uc002kee.2_Intron|SLC16A3_uc002keb.2_Splice_Site_p.G375_splice|SLC16A3_uc002kec.2_Splice_Site_p.G375_splice|SLC16A3_uc002ked.2_Splice_Site_p.G375_splice	p.G375_splice	NM_001042422	NP_001035887	O15427	MOT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		5	1263	+	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)							B3KXG8|Q2M1P8	Splice_Site	SNP	ENST00000581287.1	37	c.1124_splice	CCDS11804.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666045	0.47677	.	.	ENSG00000141526	ENST00000392341;ENST00000392339	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4504	0.83984	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC16A3	77789866	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	9.427000	0.97472	2.346000	0.79739	0.563000	0.77884	.		0.642	SLC16A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443498.1		NM_004207	Intron	10	19	0	0	0	1	0	10	19		
FN3K	64122	broad.mit.edu	37	17	80708323	80708323	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80708323G>C	ENST00000300784.7	+	6	684	c.622G>C	c.(622-624)Gag>Cag	p.E208Q	TBCD_ENST00000539345.2_5'Flank|TBCD_ENST00000355528.4_5'Flank|TBCD_ENST00000397466.2_5'Flank	NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	208					epithelial cell differentiation (GO:0030855)|fructoselysine metabolic process (GO:0030393)		fructosamine-3-kinase activity (GO:0030387)			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TTGTGGCCTAGAGATTGTCCC	0.582																																					Melanoma(10;391 597 14592 32548 32749)	uc010wvs.1		NaN																	0					0						c.(622-624)GAG>CAG		fructosamine 3 kinase							108.0	94.0	99.0					17																	80708323		2203	4300	6503	SO:0001583	missense	64122				fructoselysine metabolic process		fructosamine-3-kinase activity	g.chr17:80708323G>C	AJ404615	CCDS11818.1	17q25	2008-02-05				ENSG00000167363			24822	protein-coding gene	gene with protein product		608425				11522682, 14641062	Standard	NM_022158		Approved		uc010wvs.1	Q9H479		ENST00000300784.7:c.622G>C	17.37:g.80708323G>C	ENSP00000300784:p.Glu208Gln					TBCD_uc002kfx.1_5'Flank|TBCD_uc002kfy.1_5'Flank|TBCD_uc002kfz.2_5'Flank	p.E208Q	NM_022158	NP_071441	Q9H479	FN3K_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		6	683	+	Breast(20;0.000523)|all_neural(118;0.0952)		208						Missense_Mutation	SNP	ENST00000300784.7	37	c.622G>C	CCDS11818.1	.	.	.	.	.	.	.	.	.	.	g	16.71	3.199176	0.58126	.	.	ENSG00000167363	ENST00000300784	T	0.53206	0.63	3.96	3.96	0.45880	Protein kinase-like domain (1);	0.105328	0.64402	D	0.000006	T	0.35970	0.0950	N	0.24115	0.695	0.58432	D	0.999999	B	0.29341	0.242	B	0.33196	0.159	T	0.15578	-1.0432	9	.	.	.	-2.6727	15.9074	0.79442	0.0:0.0:1.0:0.0	.	208	Q9H479	FN3K_HUMAN	Q	208	ENSP00000300784:E208Q	.	E	+	1	0	FN3K	78301612	1.000000	0.71417	0.981000	0.43875	0.495000	0.33615	7.562000	0.82300	2.159000	0.67721	0.580000	0.79431	GAG		0.582	FN3K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439229.1		NM_022158		34	102	0	0	0	1	0	34	102		
ZNF750	79755	broad.mit.edu	37	17	80788081	80788081	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80788081C>G	ENST00000269394.3	-	3	2942	c.2109G>C	c.(2107-2109)aaG>aaC	p.K703N	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.K304N|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	703					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCTTCGCCTTCTTAGCTCCTT	0.567																																						uc002kga.2		NaN																	0				central_nervous_system(1)	1						c.(2107-2109)AAG>AAC		zinc finger protein 750							121.0	102.0	108.0					17																	80788081		2203	4300	6503	SO:0001583	missense	79755					intracellular	zinc ion binding	g.chr17:80788081C>G	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.2109G>C	17.37:g.80788081C>G	ENSP00000269394:p.Lys703Asn					TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	p.K703N	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		3	2420	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	703					Q9H899	Missense_Mutation	SNP	ENST00000269394.3	37	c.2109G>C	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671170	0.47781	.	.	ENSG00000141579	ENST00000269394;ENST00000543850	T	0.27402	1.67	5.28	2.92	0.33932	.	0.080597	0.50627	D	0.000110	T	0.44519	0.1297	M	0.65498	2.005	0.50632	D	0.999881	D	0.67145	0.996	P	0.59948	0.866	T	0.34502	-0.9826	9	.	.	.	-27.3604	8.9871	0.36001	0.0:0.6803:0.0:0.3197	.	703	Q32MQ0	ZN750_HUMAN	N	703;296	ENSP00000269394:K703N	.	K	-	3	2	ZNF750	78381370	0.992000	0.36948	0.472000	0.27241	0.462000	0.32619	0.239000	0.18023	1.221000	0.43506	0.491000	0.48974	AAG		0.567	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2		NM_024702		30	93	0	0	0	1	0	30	93		
ZNF750	79755	broad.mit.edu	37	17	80788126	80788126	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80788126C>G	ENST00000269394.3	-	3	2897	c.2064G>C	c.(2062-2064)aaG>aaC	p.K688N	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.K289N|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	688					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GACTTGTCCTCTTTTGTCCTT	0.592																																						uc002kga.2		NaN																	0				central_nervous_system(1)	1						c.(2062-2064)AAG>AAC		zinc finger protein 750							114.0	102.0	106.0					17																	80788126		2203	4300	6503	SO:0001583	missense	79755					intracellular	zinc ion binding	g.chr17:80788126C>G	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.2064G>C	17.37:g.80788126C>G	ENSP00000269394:p.Lys688Asn					TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	p.K688N	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		3	2375	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	688					Q9H899	Missense_Mutation	SNP	ENST00000269394.3	37	c.2064G>C	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741573	0.69304	.	.	ENSG00000141579	ENST00000269394;ENST00000543850	T	0.27402	1.67	5.28	3.29	0.37713	.	0.173676	0.39020	N	0.001496	T	0.47820	0.1466	M	0.65498	2.005	0.49483	D	0.999795	D	0.89917	1.0	D	0.79108	0.992	T	0.41088	-0.9528	9	.	.	.	-34.1751	8.0256	0.30436	0.0:0.7442:0.0:0.2558	.	688	Q32MQ0	ZN750_HUMAN	N	688;281	ENSP00000269394:K688N	.	K	-	3	2	ZNF750	78381415	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.643000	0.37217	1.227000	0.43598	0.491000	0.48974	AAG		0.592	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2		NM_024702		38	103	0	0	0	1	0	38	103		
ZNF750	79755	broad.mit.edu	37	17	80788419	80788419	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80788419C>G	ENST00000269394.3	-	3	2604	c.1771G>C	c.(1771-1773)Gag>Cag	p.E591Q	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.E192Q|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	591					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGCCCATCCTCAGAACCTTCT	0.677																																						uc002kga.2		NaN																	0				central_nervous_system(1)	1						c.(1771-1773)GAG>CAG		zinc finger protein 750							42.0	46.0	44.0					17																	80788419		2203	4300	6503	SO:0001583	missense	79755					intracellular	zinc ion binding	g.chr17:80788419C>G	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1771G>C	17.37:g.80788419C>G	ENSP00000269394:p.Glu591Gln					TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	p.E591Q	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		3	2082	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	591					Q9H899	Missense_Mutation	SNP	ENST00000269394.3	37	c.1771G>C	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	C	9.004	0.980907	0.18812	.	.	ENSG00000141579	ENST00000269394;ENST00000543850	T	0.14893	2.47	5.03	-1.46	0.08800	.	1.101070	0.07060	N	0.833635	T	0.14570	0.0352	L	0.50333	1.59	0.09310	N	1	B	0.16396	0.017	B	0.16289	0.015	T	0.37502	-0.9703	9	.	.	.	-0.0659	6.3056	0.21137	0.0:0.4421:0.2406:0.3172	.	591	Q32MQ0	ZN750_HUMAN	Q	591;184	ENSP00000269394:E591Q	.	E	-	1	0	ZNF750	78381708	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.098000	0.15189	-0.073000	0.12842	-0.229000	0.12294	GAG		0.677	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2		NM_024702		24	89	0	0	0	1	0	24	89		
ZNF750	79755	broad.mit.edu	37	17	80789062	80789062	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80789062C>T	ENST00000269394.3	-	2	2102	c.1269G>A	c.(1267-1269)acG>acA	p.T423T	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Silent_p.T24T|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	423					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGTCTGGCTCGTCTGCATGA	0.652																																						uc002kga.2		NaN																	0				central_nervous_system(1)	1						c.(1267-1269)ACG>ACA		zinc finger protein 750							62.0	61.0	61.0					17																	80789062		2203	4300	6503	SO:0001819	synonymous_variant	79755					intracellular	zinc ion binding	g.chr17:80789062C>T	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1269G>A	17.37:g.80789062C>T						TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	p.T423T	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	1580	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	423					Q9H899	Silent	SNP	ENST00000269394.3	37	c.1269G>A	CCDS11819.1																																																																																				0.652	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2		NM_024702		37	110	0	0	0	1	0	37	110		
ZNF750	79755	broad.mit.edu	37	17	80789532	80789532	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80789532C>G	ENST00000269394.3	-	2	1632	c.799G>C	c.(799-801)Gag>Cag	p.E267Q	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	267					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCGTCACACTCAGGCGAGCTC	0.612																																						uc002kga.2		NaN																	0				central_nervous_system(1)	1						c.(799-801)GAG>CAG		zinc finger protein 750							80.0	86.0	84.0					17																	80789532		2203	4300	6503	SO:0001583	missense	79755					intracellular	zinc ion binding	g.chr17:80789532C>G	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.799G>C	17.37:g.80789532C>G	ENSP00000269394:p.Glu267Gln					TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	p.E267Q	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	1110	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	267					Q9H899	Missense_Mutation	SNP	ENST00000269394.3	37	c.799G>C	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.546436	0.45383	.	.	ENSG00000141579	ENST00000269394	T	0.16897	2.31	5.34	5.34	0.76211	.	0.081143	0.51477	D	0.000098	T	0.41880	0.1178	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.14531	-1.0469	9	.	.	.	-44.9697	18.0265	0.89270	0.0:1.0:0.0:0.0	.	267	Q32MQ0	ZN750_HUMAN	Q	267	ENSP00000269394:E267Q	.	E	-	1	0	ZNF750	78382821	1.000000	0.71417	0.939000	0.37840	0.025000	0.11179	5.079000	0.64431	2.507000	0.84556	0.655000	0.94253	GAG		0.612	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2		NM_024702		38	118	0	0	0	1	0	38	118		
ZNF750	79755	broad.mit.edu	37	17	80790213	80790213	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80790213G>C	ENST00000269394.3	-	2	951	c.118C>G	c.(118-120)Ctt>Gtt	p.L40V	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	40					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGATTAAAAAGATGTGACTTC	0.418																																						uc002kga.2		NaN																	0				central_nervous_system(1)	1						c.(118-120)CTT>GTT		zinc finger protein 750							110.0	110.0	110.0					17																	80790213		2203	4300	6503	SO:0001583	missense	79755					intracellular	zinc ion binding	g.chr17:80790213G>C	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.118C>G	17.37:g.80790213G>C	ENSP00000269394:p.Leu40Val					TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	p.L40V	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	429	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	40					Q9H899	Missense_Mutation	SNP	ENST00000269394.3	37	c.118C>G	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.869076	0.51588	.	.	ENSG00000141579	ENST00000269394	T	0.56275	0.47	5.97	5.0	0.66597	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000010	T	0.71558	0.3354	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73668	-0.3910	9	.	.	.	-29.6904	14.573	0.68224	0.0702:0.0:0.9298:0.0	.	40	Q32MQ0	ZN750_HUMAN	V	40	ENSP00000269394:L40V	.	L	-	1	0	ZNF750	78383502	1.000000	0.71417	0.107000	0.21349	0.085000	0.17905	6.593000	0.74100	1.531000	0.49152	0.655000	0.94253	CTT		0.418	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2		NM_024702		71	62	0	0	0	1	0	71	62		
COLEC12	81035	broad.mit.edu	37	18	346722	346722	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:346722G>A	ENST00000400256.3	-	5	1107	c.900C>T	c.(898-900)atC>atT	p.I300I		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	300					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				AGATAGTGGTGATGTTCTCCA	0.502																																						uc002kkm.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(898-900)ATC>ATT		collectin sub-family member 12							205.0	167.0	180.0					18																	346722		2203	4300	6503	SO:0001819	synonymous_variant	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:346722G>A	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.900C>T	18.37:g.346722G>A							p.I300I	NM_130386	NP_569057	Q5KU26	COL12_HUMAN			5	1115	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	300			Potential.|Extracellular (Potential).		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Silent	SNP	ENST00000400256.3	37	c.900C>T	CCDS32782.1																																																																																				0.502	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1				19	65	0	0	0	1	0	19	65		
EMILIN2	84034	broad.mit.edu	37	18	2891158	2891158	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:2891158G>A	ENST00000254528.3	+	4	1192	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	345					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AAACTCATGTGAGTACAAGCT	0.522																																						uc002kln.2		NaN																	0				skin(2)|ovary(1)	3						c.(1033-1035)GAG>AAG		elastin microfibril interfacer 2 precursor							96.0	99.0	98.0					18																	2891158		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2891158G>A	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1033G>A	18.37:g.2891158G>A	ENSP00000254528:p.Glu345Lys						p.E345K	NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	1192	+			345					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.1033G>A	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254291	0.95336	.	.	ENSG00000132205	ENST00000254528	T	0.38240	1.15	5.41	5.41	0.78517	.	0.158089	0.44097	D	0.000491	T	0.49847	0.1581	L	0.60455	1.87	0.53688	D	0.999975	D	0.55605	0.972	P	0.52267	0.694	T	0.49204	-0.8964	10	0.52906	T	0.07	-37.7983	19.2047	0.93724	0.0:0.0:1.0:0.0	.	345	Q9BXX0	EMIL2_HUMAN	K	345	ENSP00000254528:E345K	ENSP00000254528:E345K	E	+	1	0	EMILIN2	2881158	1.000000	0.71417	0.997000	0.53966	0.921000	0.55340	9.471000	0.97696	2.521000	0.84997	0.557000	0.71058	GAG		0.522	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2		NM_032048		38	123	0	0	0	1	0	38	123		
EPB41L3	23136	broad.mit.edu	37	18	5397426	5397426	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:5397426C>G	ENST00000341928.2	-	18	2813		c.e18-1		EPB41L3_ENST00000544123.1_Splice_Site|EPB41L3_ENST00000542146.1_Splice_Site|EPB41L3_ENST00000427684.2_Splice_Site|EPB41L3_ENST00000542652.2_Splice_Site|EPB41L3_ENST00000540638.2_Splice_Site|EPB41L3_ENST00000400111.3_Splice_Site|EPB41L3_ENST00000342933.3_Splice_Site	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3						apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TTTCCATTTTCTGCATGGGAA	0.517																																						uc002kmt.1		NaN																	0				ovary(5)	5						c.e18-1		erythrocyte membrane protein band 4.1-like 3							68.0	71.0	70.0					18																	5397426		2203	4300	6503	SO:0001630	splice_region_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5397426C>G	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2473-1G>C	18.37:g.5397426C>G						EPB41L3_uc010wzh.1_Splice_Site_p.K656_splice|EPB41L3_uc002kmu.1_Splice_Site_p.K603_splice|EPB41L3_uc010dkq.1_Splice_Site_p.K494_splice|EPB41L3_uc002kms.1_Splice_Site_p.K60_splice|EPB41L3_uc010wze.1_Splice_Site_p.K130_splice|EPB41L3_uc010wzf.1_Splice_Site_p.K122_splice|EPB41L3_uc010wzg.1_Splice_Site_p.K97_splice|EPB41L3_uc010dkr.2_Splice_Site_p.K217_splice	p.K825_splice	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			18	2559	-								B7Z4I5|F5GX05|O95713|Q9BRP5	Splice_Site	SNP	ENST00000341928.2	37	c.2473_splice	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108767	0.37242	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2821	0.98520	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPB41L3	5387426	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	5.282000	0.65615	2.786000	0.95864	0.563000	0.77884	.		0.517	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1		NM_012307	Intron	24	87	0	0	0	1	0	24	87		
LRRC30	339291	broad.mit.edu	37	18	7231348	7231348	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:7231348C>A	ENST00000383467.2	+	1	226	c.212C>A	c.(211-213)tCc>tAc	p.S71Y		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	71										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGGGGCTTGTCCGAGGTCCAG	0.607																																						uc010wzk.1		NaN																	0				ovary(1)|liver(1)	2						c.(211-213)TCC>TAC		leucine rich repeat containing 30							56.0	60.0	59.0					18																	7231348		1964	4163	6127	SO:0001583	missense	339291							g.chr18:7231348C>A		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.212C>A	18.37:g.7231348C>A	ENSP00000372959:p.Ser71Tyr						p.S71Y	NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN			1	212	+			71						Missense_Mutation	SNP	ENST00000383467.2	37	c.212C>A	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.781022	0.31502	.	.	ENSG00000206422	ENST00000383467	T	0.25912	1.77	5.65	4.77	0.60923	.	0.800086	0.12072	N	0.502184	T	0.24586	0.0596	L	0.45352	1.415	0.09310	N	1	B	0.33826	0.427	B	0.34536	0.185	T	0.17137	-1.0379	10	0.59425	D	0.04	.	10.3273	0.43801	0.1352:0.7931:0.0:0.0717	.	71	A6NM36	LRC30_HUMAN	Y	71	ENSP00000372959:S71Y	ENSP00000372959:S71Y	S	+	2	0	LRRC30	7221348	0.003000	0.15002	0.468000	0.27192	0.997000	0.91878	1.435000	0.34969	1.504000	0.48704	0.650000	0.86243	TCC		0.607	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1		XM_292678		23	75	1	0	1.9806e-07	1	2.0496e-07	23	75		
TWSG1	57045	broad.mit.edu	37	18	9396492	9396492	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:9396492G>C	ENST00000262120.5	+	4	629	c.438G>C	c.(436-438)caG>caC	p.Q146H	TWSG1_ENST00000581641.1_Missense_Mutation_p.Q146H	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	146					BMP signaling pathway (GO:0030509)|camera-type eye development (GO:0043010)|cell differentiation (GO:0030154)|forebrain development (GO:0030900)|hemopoiesis (GO:0030097)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of BMP signaling pathway (GO:0030513)|salivary gland morphogenesis (GO:0007435)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						CACACCACCAGAATGTGTCTG	0.443																																						uc002knz.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(436-438)CAG>CAC		twisted gastrulation precursor							81.0	77.0	78.0					18																	9396492		2203	4300	6503	SO:0001583	missense	57045							g.chr18:9396492G>C	AA486291	CCDS11844.1	18p11.3	2013-10-03	2013-10-03		ENSG00000128791	ENSG00000128791			12429	protein-coding gene	gene with protein product		605049	"""twisted gastrulation homolog 1 (Drosophila)"""			11260715	Standard	NM_020648		Approved	TSG	uc002knz.3	Q9GZX9	OTTHUMG00000131597	ENST00000262120.5:c.438G>C	18.37:g.9396492G>C	ENSP00000262120:p.Gln146His					TWSG1_uc002koa.2_Missense_Mutation_p.Q71H	p.Q146H	NM_020648	NP_065699	Q9GZX9	TWSG1_HUMAN			4	629	+			146					B2RE08|D3DUH9|Q8NBI7|Q96K46	Missense_Mutation	SNP	ENST00000262120.5	37	c.438G>C	CCDS11844.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444211	0.43429	.	.	ENSG00000128791	ENST00000262120	.	.	.	5.33	-6.11	0.02131	.	0.054259	0.85682	D	0.000000	T	0.49525	0.1562	L	0.42245	1.32	0.48975	D	0.999733	B	0.18610	0.029	B	0.22880	0.042	T	0.12116	-1.0560	9	0.26408	T	0.33	-26.5562	18.0176	0.89246	0.2518:0.0:0.7482:0.0	.	146	Q9GZX9	TWSG1_HUMAN	H	146	.	ENSP00000262120:Q146H	Q	+	3	2	TWSG1	9386492	0.998000	0.40836	0.514000	0.27761	0.985000	0.73830	0.518000	0.22847	-1.200000	0.02662	-0.367000	0.07326	CAG		0.443	TWSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254480.2				17	60	0	0	0	1	0	17	60		
CIDEA	1149	broad.mit.edu	37	18	12264384	12264384	+	Missense_Mutation	SNP	G	G	C	rs139948292		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:12264384G>C	ENST00000320477.9	+	3	327	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	88	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						GGACACAGAAGAGTTCTTTCA	0.512																																						uc002kqt.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(262-264)GAG>CAG		cell death-inducing DFFA-like effector a isoform							157.0	129.0	139.0					18																	12264384		2203	4300	6503	SO:0001583	missense	1149				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	g.chr18:12264384G>C	AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.262G>C	18.37:g.12264384G>C	ENSP00000320209:p.Glu88Gln					CIDEA_uc002kqu.3_Missense_Mutation_p.E122Q|CIDEA_uc010dlc.2_RNA	p.E88Q	NM_001279	NP_001270	O60543	CIDEA_HUMAN			3	327	+			88			CIDE-N.		B0YIY7|Q6UPR7	Missense_Mutation	SNP	ENST00000320477.9	37	c.262G>C	CCDS11856.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954735	0.92726	.	.	ENSG00000176194	ENST00000320477	T	0.55052	0.54	4.93	4.93	0.64822	Caspase-activated nuclease CIDE-N (3);	0.207703	0.40640	N	0.001060	T	0.76147	0.3947	M	0.86864	2.845	0.50467	D	0.999873	D;D	0.67145	0.996;0.993	D;P	0.68353	0.957;0.899	T	0.81099	-0.1086	10	0.66056	D	0.02	-34.4116	18.112	0.89539	0.0:0.0:1.0:0.0	.	122;88	Q8N5P9;O60543	.;CIDEA_HUMAN	Q	88	ENSP00000320209:E88Q	ENSP00000320209:E88Q	E	+	1	0	CIDEA	12254384	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	8.688000	0.91260	2.422000	0.82143	0.484000	0.47621	GAG		0.512	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2		NM_001279		19	58	0	0	0	1	0	19	58		
CEP192	55125	broad.mit.edu	37	18	13059091	13059091	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:13059091C>G	ENST00000325971.8	+	19	4073	c.2480C>G	c.(2479-2481)tCa>tGa	p.S827*	CEP192_ENST00000506447.1_Nonsense_Mutation_p.S1423*|CEP192_ENST00000430049.2_Nonsense_Mutation_p.S948*			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	827					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTGGATCTTTCAACATATCGT	0.358																																						uc010xac.1		NaN																	0				ovary(4)|pancreas(1)	5						c.(4267-4269)TCA>TGA		centrosomal protein 192kDa							83.0	79.0	80.0					18																	13059091		2203	4300	6503	SO:0001587	stop_gained	55125							g.chr18:13059091C>G	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2480C>G	18.37:g.13059091C>G	ENSP00000317156:p.Ser827*					CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Nonsense_Mutation_p.S948*|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Nonsense_Mutation_p.S1164*	p.S1423*	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN			21	4348	+			1423					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Nonsense_Mutation	SNP	ENST00000325971.8	37	c.4268C>G		.	.	.	.	.	.	.	.	.	.	C	40	8.372636	0.98781	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	.	.	.	5.08	4.21	0.49690	.	0.305128	0.29286	N	0.012592	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-8.1171	7.6867	0.28544	0.1338:0.7193:0.0:0.1469	.	.	.	.	X	1423;827;827;948	.	ENSP00000317156:S827X	S	+	2	0	CEP192	13049091	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	2.190000	0.42630	1.268000	0.44264	0.591000	0.81541	TCA		0.358	CEP192-201	KNOWN	basic	protein_coding	protein_coding			NM_032142		21	58	0	0	0	1	0	21	58		
MIB1	57534	broad.mit.edu	37	18	19427037	19427037	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:19427037G>A	ENST00000261537.6	+	16	2608	c.2344G>A	c.(2344-2346)Gat>Aat	p.D782N	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	782					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TCTCTGTCCTGATCCGAATCT	0.393																																						uc002ktq.2		NaN																	0				ovary(4)	4						c.(2344-2346)GAT>AAT		mindbomb homolog 1							81.0	72.0	75.0					18																	19427037		2203	4300	6503	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19427037G>A	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.2344G>A	18.37:g.19427037G>A	ENSP00000261537:p.Asp782Asn					MIB1_uc002ktp.2_Missense_Mutation_p.D421N	p.D782N	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		16	2344	+			782					B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.2344G>A	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912600	0.92178	.	.	ENSG00000101752	ENST00000261537	T	0.44881	0.91	5.29	5.29	0.74685	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56232	0.1971	L	0.47190	1.495	0.80722	D	1	P	0.49447	0.924	P	0.59424	0.857	T	0.51268	-0.8727	10	0.39692	T	0.17	-20.1344	18.95	0.92638	0.0:0.0:1.0:0.0	.	782	Q86YT6	MIB1_HUMAN	N	782	ENSP00000261537:D782N	ENSP00000261537:D782N	D	+	1	0	MIB1	17681035	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.489000	0.83994	0.650000	0.86243	GAT		0.393	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1		NM_020774		21	55	0	0	0	1	0	21	55		
LAMA3	3909	broad.mit.edu	37	18	21327958	21327958	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:21327958G>A	ENST00000313654.9	+	3	740	c.499G>A	c.(499-501)Gat>Aat	p.D167N	LAMA3_ENST00000399516.3_Missense_Mutation_p.D167N	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	167	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TCCTCGCCCTGATCTTTGGGT	0.388																																						uc002kuq.2		NaN																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(499-501)GAT>AAT		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						138.0	126.0	130.0					18																	21327958		1837	4094	5931	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21327958G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.499G>A	18.37:g.21327958G>A	ENSP00000324532:p.Asp167Asn					LAMA3_uc010dlv.1_Missense_Mutation_p.D167N|LAMA3_uc002kur.2_Missense_Mutation_p.D167N	p.D167N	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			3	585	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		167			Laminin N-terminal.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.499G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008412	0.93346	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.74947	-0.89;-0.89	5.82	5.82	0.92795	Laminin, N-terminal (3);	.	.	.	.	D	0.88596	0.6479	M	0.86740	2.835	0.80722	D	1	D;D;D	0.76494	0.985;0.999;0.997	P;D;D	0.75484	0.747;0.986;0.951	D	0.88385	0.3004	9	0.49607	T	0.09	.	20.1012	0.97876	0.0:0.0:1.0:0.0	.	167;167;167	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	N	167	ENSP00000324532:D167N;ENSP00000382432:D167N	ENSP00000324532:D167N	D	+	1	0	LAMA3	19581956	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.950000	0.87804	2.754000	0.94517	0.650000	0.86243	GAT		0.388	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3		NM_000227, NM_198129		21	68	0	0	0	1	0	21	68		
DSC1	1823	broad.mit.edu	37	18	28720060	28720060	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:28720060C>G	ENST00000257198.5	-	10	1726	c.1465G>C	c.(1465-1467)Gaa>Caa	p.E489Q	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Missense_Mutation_p.E489Q	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	489	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E489*(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCAAGGAGTTCTTGGCCAGCT	0.428																																						uc002kwn.2		NaN																	2	Substitution - Nonsense(2)		large_intestine(2)	ovary(3)|skin(1)	4						c.(1465-1467)GAA>CAA		desmocollin 1 isoform Dsc1a preproprotein							83.0	86.0	85.0					18																	28720060		2203	4300	6503	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28720060C>G	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.1465G>C	18.37:g.28720060C>G	ENSP00000257198:p.Glu489Gln					DSC1_uc002kwm.2_Missense_Mutation_p.E489Q	p.E489Q	NM_024421	NP_077739	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		10	1727	-			489			Extracellular (Potential).|Cadherin 4.		Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.1465G>C	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	C	5.831	0.337609	0.11013	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.54479	0.57;0.57	5.83	0.794	0.18638	Cadherin (3);Cadherin-like (1);	0.571899	0.15546	N	0.256708	T	0.31702	0.0805	L	0.31207	0.915	0.09310	N	1	B;P	0.36753	0.17;0.568	B;B	0.36608	0.11;0.229	T	0.15150	-1.0447	10	0.15499	T	0.54	.	3.6439	0.08177	0.1258:0.4956:0.2434:0.1352	.	489;489	Q08554;Q9HB00	DSC1_HUMAN;.	Q	489	ENSP00000257197:E489Q;ENSP00000257198:E489Q	ENSP00000257197:E489Q	E	-	1	0	DSC1	26974058	0.000000	0.05858	0.000000	0.03702	0.602000	0.36980	0.051000	0.14141	-0.139000	0.11414	-0.172000	0.13284	GAA		0.428	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1		NM_004948, NM_024421		22	74	0	0	0	1	0	22	74		
DSG1	1828	broad.mit.edu	37	18	28916386	28916386	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:28916386C>A	ENST00000257192.4	+	9	1287	c.1075C>A	c.(1075-1077)Cat>Aat	p.H359N		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	359	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGAATTTCATCATTCAATTAT	0.343																																						uc002kwp.2		NaN																	0				skin(3)|ovary(2)|central_nervous_system(2)	7						c.(1075-1077)CAT>AAT		desmoglein 1 preproprotein							82.0	77.0	79.0					18																	28916386		2203	4300	6503	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28916386C>A	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1075C>A	18.37:g.28916386C>A	ENSP00000257192:p.His359Asn						p.H359N	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		9	1287	+			359			Extracellular (Potential).|Cadherin 3.		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.1075C>A	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182168	0.57800	.	.	ENSG00000134760	ENST00000257192	T	0.57107	0.42	5.9	5.01	0.66863	Cadherin (3);Cadherin-like (1);	0.734852	0.12969	N	0.424337	T	0.42404	0.1201	L	0.40543	1.245	0.80722	D	1	B	0.18741	0.03	B	0.25759	0.063	T	0.27331	-1.0077	10	0.28530	T	0.3	.	6.295	0.21081	0.1475:0.6945:0.0:0.1579	.	359	Q02413	DSG1_HUMAN	N	359	ENSP00000257192:H359N	ENSP00000257192:H359N	H	+	1	0	DSG1	27170384	0.007000	0.16637	0.970000	0.41538	0.849000	0.48306	0.723000	0.25939	1.428000	0.47296	0.563000	0.77884	CAT		0.343	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1		NM_001942		5	25	1	0	0.184627	1	0.184846	5	25		
DSG1	1828	broad.mit.edu	37	18	28923426	28923426	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:28923426G>C	ENST00000257192.4	+	12	1913	c.1701G>C	c.(1699-1701)ttG>ttC	p.L567F	RNU6-167P_ENST00000384292.1_RNA|DSG1_ENST00000462981.2_5'Flank|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	567					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TCCCATTTTTGATGATCTGTT	0.423																																						uc002kwp.2		NaN																	0				skin(3)|ovary(2)|central_nervous_system(2)	7						c.(1699-1701)TTG>TTC		desmoglein 1 preproprotein							222.0	199.0	207.0					18																	28923426		2203	4300	6503	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28923426G>C	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1701G>C	18.37:g.28923426G>C	ENSP00000257192:p.Leu567Phe					DSG1_uc010xbp.1_5'Flank	p.L567F	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		12	1913	+			567			Helical; (Potential).		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.1701G>C	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220218	0.58560	.	.	ENSG00000134760	ENST00000257192	T	0.52983	0.64	5.45	5.45	0.79879	.	0.000000	0.50627	D	0.000107	T	0.73016	0.3533	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.74833	-0.3530	10	0.37606	T	0.19	.	17.0457	0.86501	0.0:0.0:1.0:0.0	.	567	Q02413	DSG1_HUMAN	F	567	ENSP00000257192:L567F	ENSP00000257192:L567F	L	+	3	2	DSG1	27177424	1.000000	0.71417	0.795000	0.32087	0.400000	0.30750	4.136000	0.58004	2.566000	0.86566	0.655000	0.94253	TTG		0.423	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1		NM_001942		32	122	0	0	0	1	0	32	122		
DSG1	1828	broad.mit.edu	37	18	28923523	28923523	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:28923523G>C	ENST00000257192.4	+	12	2010	c.1798G>C	c.(1798-1800)Gaa>Caa	p.E600Q	RNU6-167P_ENST00000384292.1_RNA|DSG1_ENST00000462981.2_5'Flank|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	600					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATGGGCAGTAGAAGGACCACA	0.483																																						uc002kwp.2		NaN																	0				skin(3)|ovary(2)|central_nervous_system(2)	7						c.(1798-1800)GAA>CAA		desmoglein 1 preproprotein							145.0	123.0	130.0					18																	28923523		2203	4300	6503	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28923523G>C	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1798G>C	18.37:g.28923523G>C	ENSP00000257192:p.Glu600Gln					DSG1_uc010xbp.1_5'Flank	p.E600Q	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		12	2010	+			600			Cytoplasmic (Potential).		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.1798G>C	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.879006	0.72294	.	.	ENSG00000134760	ENST00000257192	T	0.75704	-0.96	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000004	D	0.85991	0.5826	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.84339	0.0526	10	0.30078	T	0.28	.	17.0457	0.86501	0.0:0.0:1.0:0.0	.	600	Q02413	DSG1_HUMAN	Q	600	ENSP00000257192:E600Q	ENSP00000257192:E600Q	E	+	1	0	DSG1	27177521	1.000000	0.71417	0.956000	0.39512	0.474000	0.32979	5.725000	0.68507	2.566000	0.86566	0.655000	0.94253	GAA		0.483	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1		NM_001942		23	75	0	0	0	1	0	23	75		
CCDC178	374864	broad.mit.edu	37	18	30913193	30913193	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:30913193G>C	ENST00000383096.3	-	10	1006	c.824C>G	c.(823-825)tCt>tGt	p.S275C	CCDC178_ENST00000579947.1_Missense_Mutation_p.S275C|CCDC178_ENST00000406524.2_Missense_Mutation_p.S275C|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Missense_Mutation_p.S275C|CCDC178_ENST00000300227.8_Missense_Mutation_p.S275C|CCDC178_ENST00000403303.1_Missense_Mutation_p.S275C|CCDC178_ENST00000583930.1_Missense_Mutation_p.S275C			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	275																	ATTCTGCTTAGAGTCCAGTAG	0.328																																						uc002kxn.2		NaN																	0				ovary(1)	1						c.(823-825)TCT>TGT		hypothetical protein LOC374864 isoform 1							195.0	174.0	181.0					18																	30913193		2203	4300	6503	SO:0001583	missense	374864							g.chr18:30913193G>C	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.824C>G	18.37:g.30913193G>C	ENSP00000372576:p.Ser275Cys					C18orf34_uc010xbr.1_Missense_Mutation_p.S275C|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.S275C|C18orf34_uc002kxp.2_Missense_Mutation_p.S275C	p.S275C	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			9	966	-			275			Potential.		A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.824C>G	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	G	7.227	0.598594	0.13939	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.47528	2.44;2.44;2.44;2.43;2.44;0.84	5.32	-6.17	0.02091	.	.	.	.	.	T	0.45478	0.1344	L	0.46157	1.445	0.09310	N	1	D;D;D;D	0.69078	0.997;0.997;0.992;0.997	P;P;P;P	0.60236	0.821;0.871;0.821;0.871	T	0.42949	-0.9421	9	0.62326	D	0.03	7.6571	0.9351	0.01343	0.3242:0.106:0.1652:0.4046	.	275;275;275;275	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	C	275	ENSP00000385591:S275C;ENSP00000372576:S275C;ENSP00000300227:S275C;ENSP00000385867:S275C;ENSP00000385234:S275C;ENSP00000382130:S275C	ENSP00000300227:S275C	S	-	2	0	C18orf34	29167191	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.338000	0.07842	-0.862000	0.04089	-0.262000	0.10625	TCT		0.328	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2		NM_198995		9	40	0	0	0	1	0	9	40		
ASXL3	80816	broad.mit.edu	37	18	31319557	31319557	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:31319557C>T	ENST00000269197.5	+	11	2189	c.2189C>T	c.(2188-2190)tCa>tTa	p.S730L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	730	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAAACTTCTTCAGTGTCTTCC	0.398																																						uc010dmg.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(2188-2190)TCA>TTA		additional sex combs like 3							282.0	281.0	281.0					18																	31319557		1921	4131	6052	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31319557C>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.2189C>T	18.37:g.31319557C>T	ENSP00000269197:p.Ser730Leu					ASXL3_uc002kxq.2_Missense_Mutation_p.S437L	p.S730L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			11	2244	+			730			Ser-rich.		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.2189C>T	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139729	0.77775	.	.	ENSG00000141431	ENST00000269197	T	0.23950	1.88	6.03	6.03	0.97812	.	0.662113	0.14417	N	0.320902	T	0.46983	0.1421	L	0.39633	1.23	0.51767	D	0.999939	D	0.76494	0.999	D	0.80764	0.994	T	0.14783	-1.0460	10	0.46703	T	0.11	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	730	Q9C0F0	ASXL3_HUMAN	L	730	ENSP00000269197:S730L	ENSP00000269197:S730L	S	+	2	0	ASXL3	29573555	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.114000	0.64648	2.868000	0.98415	0.557000	0.71058	TCA		0.398	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2				55	207	0	0	0	1	0	55	207		
TPGS2	25941	broad.mit.edu	37	18	34376949	34376949	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:34376949G>C	ENST00000334295.4	-	7	1149	c.722C>G	c.(721-723)tCc>tGc	p.S241C	TPGS2_ENST00000590842.1_Intron|TPGS2_ENST00000593035.1_Missense_Mutation_p.S206C|TPGS2_ENST00000590652.1_Intron|TPGS2_ENST00000383056.3_Missense_Mutation_p.S198C|TPGS2_ENST00000587129.1_Intron	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	241						cytoplasm (GO:0005737)|microtubule (GO:0005874)											ATTCACAAAGGAGTCGGTCTC	0.443																																						uc002kzw.1		NaN																	0				skin(1)	1						c.(721-723)TCC>TGC		tubulin polyglutamylase complex subunit 2							183.0	181.0	182.0					18																	34376949		2203	4300	6503	SO:0001583	missense	25941					cytoplasm|microtubule		g.chr18:34376949G>C	BC015178	CCDS32817.1, CCDS62421.1, CCDS62422.1, CCDS62423.1, CCDS62424.1, CCDS74214.1, CCDS74215.1	18q12.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134779	ENSG00000134779			24561	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 10"""	C18orf10		12477932	Standard	NM_015476		Approved	DKFZP586M1523, HsT3006	uc031rhw.1	Q68CL5		ENST00000334295.4:c.722C>G	18.37:g.34376949G>C	ENSP00000335144:p.Ser241Cys					C18orf10_uc002kzv.1_Intron|C18orf10_uc010xci.1_Missense_Mutation_p.S206C|C18orf10_uc002kzx.1_Missense_Mutation_p.S198C	p.S241C	NM_015476	NP_056291	Q68CL5	TPGS2_HUMAN			7	1150	-			241					B4DIX2|K7EIJ9|Q4KN59|Q8WTU3|Q96BT9|Q9Y435	Missense_Mutation	SNP	ENST00000334295.4	37	c.722C>G	CCDS32817.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906005	0.33628	.	.	ENSG00000134779	ENST00000334295;ENST00000383056	T;T	0.44482	0.93;0.92	5.91	0.619	0.17630	.	0.719803	0.14480	N	0.317019	T	0.24236	0.0587	L	0.27053	0.805	0.80722	D	1	B;B;B	0.13145	0.007;0.003;0.001	B;B;B	0.10450	0.005;0.004;0.003	T	0.07083	-1.0791	10	0.33940	T	0.23	-1.536	3.985	0.09511	0.1098:0.2164:0.4723:0.2015	.	206;198;241	B4DIX2;Q68CL5-1;Q68CL5	.;.;TPGS2_HUMAN	C	241;198	ENSP00000335144:S241C;ENSP00000372530:S198C	ENSP00000335144:S241C	S	-	2	0	C18orf10	32630947	0.997000	0.39634	0.999000	0.59377	0.959000	0.62525	0.293000	0.19029	0.345000	0.23873	0.655000	0.94253	TCC		0.443	TPGS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440410.2		NM_015476		52	143	0	0	0	1	0	52	143		
KIAA1328	57536	broad.mit.edu	37	18	34415224	34415224	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:34415224C>G	ENST00000280020.5	+	3	144	c.122C>G	c.(121-123)tCa>tGa	p.S41*	KIAA1328_ENST00000543923.1_5'UTR|KIAA1328_ENST00000591619.1_Nonsense_Mutation_p.S37*|KIAA1328_ENST00000592521.1_Nonsense_Mutation_p.S41*|KIAA1328_ENST00000435985.2_5'UTR	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	41										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		AATGTCAGATCAAGACACAAG	0.393																																						uc002kzz.2		NaN																	0				central_nervous_system(1)	1						c.(121-123)TCA>TGA		hypothetical protein LOC57536							142.0	143.0	143.0					18																	34415224		1862	4092	5954	SO:0001587	stop_gained	57536							g.chr18:34415224C>G	AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.122C>G	18.37:g.34415224C>G	ENSP00000280020:p.Ser41*						p.S41*	NM_020776	NP_065827	Q86T90	K1328_HUMAN		COAD - Colon adenocarcinoma(74;0.195)	3	144	+			41					Q05DL0|Q49AG6|Q9P2L8	Nonsense_Mutation	SNP	ENST00000280020.5	37	c.122C>G	CCDS45855.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984004	0.74474	.	.	ENSG00000150477	ENST00000280020;ENST00000383055	.	.	.	5.11	3.29	0.37713	.	0.579479	0.14566	N	0.311747	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	9.867	0.41150	0.0:0.8339:0.0:0.1661	.	.	.	.	X	41	.	ENSP00000280020:S41X	S	+	2	0	KIAA1328	32669222	1.000000	0.71417	0.989000	0.46669	0.495000	0.33615	1.659000	0.37387	1.122000	0.41944	0.557000	0.71058	TCA		0.393	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1		NM_020776		17	56	0	0	0	1	0	17	56		
SETBP1	26040	broad.mit.edu	37	18	42530198	42530198	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:42530198C>T	ENST00000282030.5	+	4	1189	c.893C>T	c.(892-894)tCa>tTa	p.S298L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	298						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGCCACAGCTCACCAGCCCCA	0.567									Schinzel-Giedion syndrome																													uc010dni.2		NaN																	0				upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(892-894)TCA>TTA		SET binding protein 1 isoform a							47.0	53.0	51.0					18																	42530198		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42530198C>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.893C>T	18.37:g.42530198C>T	ENSP00000282030:p.Ser298Leu						p.S298L	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	1189	+			298					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.893C>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	C	11.67	1.707394	0.30322	.	.	ENSG00000152217	ENST00000282030	T	0.37915	1.17	5.61	5.61	0.85477	.	0.322386	0.28612	N	0.014740	T	0.27134	0.0665	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.19811	-1.0294	10	0.72032	D	0.01	.	12.859	0.57903	0.0:0.8838:0.0:0.1162	.	298	Q9Y6X0	SETBP_HUMAN	L	298	ENSP00000282030:S298L	ENSP00000282030:S298L	S	+	2	0	SETBP1	40784196	0.044000	0.20184	1.000000	0.80357	0.648000	0.38561	0.836000	0.27545	2.813000	0.96785	0.655000	0.94253	TCA		0.567	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4		NM_001130110		22	88	0	0	0	1	0	22	88		
SLC14A1	6563	broad.mit.edu	37	18	43319255	43319255	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:43319255C>T	ENST00000321925.4	+	7	1023	c.791C>T	c.(790-792)tCa>tTa	p.S264L	SLC14A1_ENST00000535474.1_Missense_Mutation_p.S132L|SLC14A1_ENST00000502059.2_Missense_Mutation_p.S156L|SLC14A1_ENST00000402943.2_Missense_Mutation_p.S159L|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000415427.3_Missense_Mutation_p.S320L|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000586142.1_Missense_Mutation_p.S264L|SLC14A1_ENST00000436407.3_Missense_Mutation_p.S320L|SLC14A1_ENST00000591541.1_5'Flank|SLC14A1_ENST00000589700.1_Intron	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	264					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						GCCATAGGATCATTGCTGGGC	0.537																																						uc010xcn.1		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(790-792)TCA>TTA		solute carrier family 14 (urea transporter),							87.0	77.0	80.0					18																	43319255		2203	4300	6503	SO:0001583	missense	6563					integral to plasma membrane	urea transmembrane transporter activity	g.chr18:43319255C>T	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"""Blood group antigens"", ""Solute carriers"""	10918	protein-coding gene	gene with protein product		613868	"""Kidd blood group"", ""solute carrier family 14 (urea transporter), member 1"""	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.791C>T	18.37:g.43319255C>T	ENSP00000318546:p.Ser264Leu					SLC14A1_uc010dnk.2_Missense_Mutation_p.S320L|SLC14A1_uc002lbf.3_Missense_Mutation_p.S264L|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Missense_Mutation_p.S159L|SLC14A1_uc002lbh.3_Missense_Mutation_p.S156L|SLC14A1_uc002lbi.3_Missense_Mutation_p.S132L|SLC14A1_uc002lbj.3_Missense_Mutation_p.S320L|SLC14A1_uc002lbk.3_Missense_Mutation_p.S264L	p.S264L	NM_001146036	NP_001139508	Q13336	UT1_HUMAN			8	1110	+			264					A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	ENST00000321925.4	37	c.791C>T	CCDS11925.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038939	0.93630	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000502059;ENST00000402943;ENST00000535474;ENST00000436407	T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000008	T	0.82162	0.4977	H	0.95539	3.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	D	0.86972	0.2098	10	0.87932	D	0	-13.2077	19.8579	0.96771	0.0:1.0:0.0:0.0	.	320;156;264	Q13336-2;B3KXJ3;Q13336	.;.;UT1_HUMAN	L	264;320;156;159;132;320	ENSP00000318546:S264L;ENSP00000412309:S320L;ENSP00000442180:S156L;ENSP00000385320:S159L;ENSP00000441998:S132L;ENSP00000390637:S320L	ENSP00000318546:S264L	S	+	2	0	SLC14A1	41573253	1.000000	0.71417	0.305000	0.25099	0.003000	0.03518	7.163000	0.77524	2.687000	0.91594	0.655000	0.94253	TCA		0.537	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2		NM_015865		27	81	0	0	0	1	0	27	81		
TCEB3B	51224	broad.mit.edu	37	18	44561352	44561352	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:44561352G>T	ENST00000332567.4	-	1	636	c.284C>A	c.(283-285)tCc>tAc	p.S95Y	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	95					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCGCTGTCGGGAAGCGCTCTC	0.657																																						uc002lcr.1		NaN																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(283-285)TCC>TAC		elongin A2							35.0	40.0	38.0					18																	44561352		2203	4297	6500	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44561352G>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.284C>A	18.37:g.44561352G>T	ENSP00000331302:p.Ser95Tyr					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.S95Y	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	637	-			95					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.284C>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184740	0.38609	.	.	ENSG00000206181	ENST00000332567	T	0.09538	2.97	2.69	0.773	0.18516	.	0.442010	0.19069	N	0.123553	T	0.18215	0.0437	L	0.61218	1.895	0.09310	N	1	D	0.61080	0.989	P	0.56700	0.804	T	0.05750	-1.0866	10	0.72032	D	0.01	-5.5606	4.9328	0.13926	0.0:0.2374:0.5189:0.2436	.	95	Q8IYF1	ELOA2_HUMAN	Y	95	ENSP00000331302:S95Y	ENSP00000331302:S95Y	S	-	2	0	TCEB3B	42815350	0.003000	0.15002	0.000000	0.03702	0.037000	0.13140	1.122000	0.31295	0.202000	0.20498	0.558000	0.71614	TCC		0.657	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1		NM_016427		22	67	1	0	1.40151e-16	1	1.48112e-16	22	67		
IER3IP1	51124	broad.mit.edu	37	18	44682582	44682582	+	Nonsense_Mutation	SNP	G	G	C	rs200201845		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:44682582G>C	ENST00000256433.3	-	3	311	c.215C>G	c.(214-216)tCa>tGa	p.S72*	IER3IP1_ENST00000588705.1_Nonsense_Mutation_p.S72*	NM_016097.4	NP_057181.1			immediate early response 3 interacting protein 1											large_intestine(1)	1						AATTGCAATTGAGTTTACTAT	0.303																																						uc002lcu.2		NaN																	0					0						c.(214-216)TCA>TGA		immediate early response 3 interacting protein							68.0	69.0	68.0					18																	44682582		2200	4295	6495	SO:0001587	stop_gained	51124					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane		g.chr18:44682582G>C	AF371963	CCDS11933.1	18q12	2006-06-23			ENSG00000134049	ENSG00000134049			18550	protein-coding gene	gene with protein product		609382				15276200	Standard	NM_016097		Approved		uc002lcu.3	Q9Y5U9	OTTHUMG00000132650	ENST00000256433.3:c.215C>G	18.37:g.44682582G>C	ENSP00000256433:p.Ser72*						p.S72*	NM_016097	NP_057181	Q9Y5U9	IR3IP_HUMAN			3	312	-			72			Helical; (Potential).			Nonsense_Mutation	SNP	ENST00000256433.3	37	c.215C>G	CCDS11933.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571187	0.86542	.	.	ENSG00000134049	ENST00000256433	.	.	.	5.91	5.91	0.95273	.	0.072656	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	15.854	0.78960	0.0:0.0:1.0:0.0	.	.	.	.	X	72	.	ENSP00000256433:S72X	S	-	2	0	IER3IP1	42936580	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	7.264000	0.78432	2.816000	0.96949	0.644000	0.83932	TCA		0.303	IER3IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255901.1		NM_016097		7	30	0	0	0	1	0	7	30		
MYO5B	4645	broad.mit.edu	37	18	47581731	47581731	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:47581731G>A	ENST00000285039.7	-	2	344	c.45C>T	c.(43-45)atC>atT	p.I15I		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	15					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CAGGGTCAGGGATCCAGACCC	0.453																																						uc002leb.2		NaN																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(43-45)ATC>ATT		myosin VB							98.0	93.0	94.0					18																	47581731		1879	4102	5981	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47581731G>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.45C>T	18.37:g.47581731G>A						MYO5B_uc002lec.1_Silent_p.I14I	p.I15I	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	2	333	-			15			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.45C>T	CCDS42436.1																																																																																				0.453	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2				23	84	0	0	0	1	0	23	84		
CXXC1	30827	broad.mit.edu	37	18	47810410	47810410	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:47810410C>T	ENST00000285106.6	-	10	1981	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000424334.2_5'Flank|CXXC1_ENST00000412036.2_Missense_Mutation_p.E427K|MBD1_ENST00000590208.1_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000585595.1_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.E423K|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000585672.1_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000457839.2_5'Flank|CXXC1_ENST00000587396.1_5'Flank|MBD1_ENST00000591416.1_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	423					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)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCGTGCTCTTCAGCAATGCAA	0.587																																						uc002leq.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1267-1269)GAA>AAA		CXXC finger 1 (PHD domain) isoform 2							68.0	63.0	65.0					18																	47810410		2203	4300	6503	SO:0001583	missense	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47810410C>T	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1267G>A	18.37:g.47810410C>T	ENSP00000285106:p.Glu423Lys					MBD1_uc002leg.2_5'Flank|MBD1_uc010dow.1_5'Flank|MBD1_uc010xdi.1_5'Flank|MBD1_uc002leh.3_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc002lei.3_5'Flank|MBD1_uc002lej.3_5'Flank|MBD1_uc002lek.3_5'Flank|MBD1_uc002lel.3_5'Flank|MBD1_uc002lem.3_5'Flank|MBD1_uc010xdj.1_5'Flank|MBD1_uc010xdk.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Missense_Mutation_p.E280K|CXXC1_uc002ler.3_Missense_Mutation_p.E427K|CXXC1_uc010doy.2_Missense_Mutation_p.E423K|CXXC1_uc002les.2_Missense_Mutation_p.E423K	p.E423K	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN			10	2000	-			423			Potential.		B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.1267G>A	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044293	0.93685	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.25250	1.81;1.81	4.63	4.63	0.57726	CpG binding protein, C-terminal (1);	0.000000	0.85682	U	0.000000	T	0.47525	0.1450	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.998;0.999	D;D;D;D	0.83275	0.984;0.93;0.958;0.996	T	0.48670	-0.9015	10	0.72032	D	0.01	-23.2115	15.3385	0.74277	0.0:1.0:0.0:0.0	.	423;427;423;290	B2RC03;Q9P0U4-2;Q9P0U4;Q59EC8	.;.;CXXC1_HUMAN;.	K	423;427	ENSP00000285106:E423K;ENSP00000390475:E427K	ENSP00000285106:E423K	E	-	1	0	CXXC1	46064408	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.079000	0.76829	2.281000	0.76405	0.453000	0.30009	GAA		0.587	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2		NM_014593		43	114	0	0	0	1	0	43	114		
ALPK2	115701	broad.mit.edu	37	18	56205258	56205258	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:56205258C>T	ENST00000361673.3	-	5	2374	c.2161G>A	c.(2161-2163)Gaa>Aaa	p.E721K	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	721						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCTTGTTTTTCTTCATGCTGT	0.448																																						uc002lhj.3		NaN																	0				ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(2161-2163)GAA>AAA		heart alpha-kinase							175.0	151.0	159.0					18																	56205258		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56205258C>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.2161G>A	18.37:g.56205258C>T	ENSP00000354991:p.Glu721Lys					ALPK2_uc002lhk.1_Missense_Mutation_p.E52K	p.E721K	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			5	2375	-			721					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.2161G>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	16.31	3.088260	0.55968	.	.	ENSG00000198796	ENST00000361673	T	0.54071	0.59	5.91	4.11	0.48088	.	0.697471	0.13661	N	0.371597	T	0.46288	0.1385	L	0.46157	1.445	0.09310	N	1	B;B	0.31548	0.328;0.067	B;B	0.32465	0.146;0.017	T	0.37957	-0.9683	10	0.49607	T	0.09	-0.1051	9.573	0.39440	0.0:0.8368:0.0:0.1632	.	721;721	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	K	721	ENSP00000354991:E721K	ENSP00000354991:E721K	E	-	1	0	ALPK2	54356238	0.068000	0.21057	0.001000	0.08648	0.294000	0.27393	2.161000	0.42358	0.815000	0.34398	0.655000	0.94253	GAA		0.448	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1		NM_052947		48	138	0	0	0	1	0	48	138		
SERPINB5	5268	broad.mit.edu	37	18	61170752	61170752	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:61170752G>C	ENST00000382771.4	+	7	1217	c.925G>C	c.(925-927)Gag>Cag	p.E309Q		NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	309					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TGGAATGTCAGAGACCAAGGG	0.438																																						uc002liz.3		NaN																	0				ovary(1)	1						c.(925-927)GAG>CAG		serine (or cysteine) proteinase inhibitor, clade							95.0	81.0	85.0					18																	61170752		2203	4300	6503	SO:0001583	missense	5268				cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61170752G>C	U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"""Serine (or cysteine) peptidase inhibitors"""	8949	protein-coding gene	gene with protein product	"""protease inhibitor 5 (maspin)"""	154790	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"""	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.925G>C	18.37:g.61170752G>C	ENSP00000372221:p.Glu309Gln						p.E309Q	NM_002639	NP_002630	P36952	SPB5_HUMAN			7	1067	+			309					B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	c.925G>C	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142818	0.57044	.	.	ENSG00000206075	ENST00000382771	T	0.18657	2.2	5.95	5.08	0.68730	Serpin domain (3);	0.189344	0.35466	N	0.003194	T	0.29389	0.0732	M	0.75777	2.31	0.80722	D	1	P	0.38223	0.623	B	0.41036	0.346	T	0.02505	-1.1149	10	0.20046	T	0.44	.	15.5729	0.76354	0.067:0.0:0.933:0.0	.	309	P36952	SPB5_HUMAN	Q	309	ENSP00000372221:E309Q	ENSP00000372221:E309Q	E	+	1	0	SERPINB5	59321732	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.569000	0.53827	2.833000	0.97629	0.655000	0.94253	GAG		0.438	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1		NM_002639		29	53	0	0	0	1	0	29	53		
SERPINB8	5271	broad.mit.edu	37	18	61654502	61654502	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:61654502C>T	ENST00000397985.2	+	7	1371	c.1115C>T	c.(1114-1116)tCt>tTt	p.S372F	SERPINB8_ENST00000353706.2_Missense_Mutation_p.S372F|SERPINB8_ENST00000542677.1_Missense_Mutation_p.S190F|SERPINB8_ENST00000493661.1_Intron	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	372					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				GGCAGGTTCTCTTCTCCGTAA	0.473																																						uc002ljv.2		NaN																	0				skin(1)	1						c.(1114-1116)TCT>TTT		serine (or cysteine) proteinase inhibitor, clade							83.0	85.0	84.0					18																	61654502		2203	4300	6503	SO:0001583	missense	5271				regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61654502C>T	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.1115C>T	18.37:g.61654502C>T	ENSP00000381072:p.Ser372Phe					SERPINB8_uc002lju.2_Missense_Mutation_p.S372F|SERPINB8_uc010xex.1_Missense_Mutation_p.S190F	p.S372F	NM_198833	NP_942130	P50452	SPB8_HUMAN			7	1284	+		Esophageal squamous(42;0.129)	372					B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	c.1115C>T	CCDS11991.1	.	.	.	.	.	.	.	.	.	.	C	6.702	0.498127	0.12762	.	.	ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000542677	D;D;D	0.84442	-1.85;-1.85;-1.85	5.38	-4.53	0.03462	Serpin domain (3);	0.486110	0.25677	N	0.029040	D	0.82646	0.5082	M	0.64260	1.97	0.09310	N	0.999992	B	0.22080	0.064	B	0.32724	0.151	T	0.70099	-0.4965	10	0.62326	D	0.03	.	15.6207	0.76805	0.0:0.1995:0.6728:0.1277	.	372	P50452	SPB8_HUMAN	F	372;372;190	ENSP00000381072:S372F;ENSP00000331368:S372F;ENSP00000438328:S190F	ENSP00000331368:S372F	S	+	2	0	SERPINB8	59805482	0.000000	0.05858	0.006000	0.13384	0.135000	0.20990	-0.125000	0.10579	-1.257000	0.02475	-0.165000	0.13383	TCT		0.473	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1		NM_001031848		19	54	0	0	0	1	0	19	54		
TSHZ1	10194	broad.mit.edu	37	18	72999280	72999280	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:72999280G>A	ENST00000580243.1	+	2	2266	c.1918G>A	c.(1918-1920)Gag>Aag	p.E640K	TSHZ1_ENST00000322038.5_Missense_Mutation_p.E595K			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	640					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GTCTGCCATGGAGGAGCTGGT	0.637																																						uc002lly.2		NaN																	0					0						c.(1783-1785)GAG>AAG		teashirt family zinc finger 1							78.0	64.0	69.0					18																	72999280		2202	4299	6501	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72999280G>A	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1918G>A	18.37:g.72999280G>A	ENSP00000464391:p.Glu640Lys						p.E595K	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	2346	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	640					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.1783G>A		.	.	.	.	.	.	.	.	.	.	G	14.47	2.545297	0.45280	.	.	ENSG00000179981	ENST00000322038	T	0.40225	1.04	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.62356	0.2421	M	0.66506	2.035	0.53688	D	0.999975	D	0.69078	0.997	D	0.75020	0.985	T	0.60403	-0.7270	10	0.27082	T	0.32	-35.5262	18.1021	0.89509	0.0:0.0:1.0:0.0	.	640	Q6ZSZ6	TSH1_HUMAN	K	595	ENSP00000323584:E595K	ENSP00000323584:E595K	E	+	1	0	TSHZ1	71128268	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	1.842000	0.53543	0.459000	0.35465	GAG		0.637	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1		NM_005786		17	83	0	0	0	1	0	17	83		
CDC34	997	broad.mit.edu	37	19	541369	541369	+	Silent	SNP	G	G	A	rs143039634		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:541369G>A	ENST00000215574.4	+	5	746	c.528G>A	c.(526-528)gcG>gcA	p.A176A	GZMM_ENST00000264553.3_5'Flank	NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	176					cellular protein modification process (GO:0006464)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of neuron apoptotic process (GO:0043525)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|response to growth factor (GO:0070848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGGACGCGGAGCGTGACG	0.716																																						uc002lov.2		NaN																	0					0						c.(526-528)GCG>GCA		ubiquitin-conjugating enzyme Cdc34		G		2,4384		0,2,2191	23.0	25.0	24.0		528	-10.0	0.0	19	dbSNP_134	24	1,8585		0,1,4292	no	coding-synonymous	CDC34	NM_004359.1		0,3,6483	AA,AG,GG		0.0116,0.0456,0.0231		176/237	541369	3,12969	2193	4293	6486	SO:0001819	synonymous_variant	997				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr19:541369G>A	L22005	CCDS12030.1	19p13.3	2013-01-17	2013-01-17					"""Ubiquitin-conjugating enzymes E2"""	1734	protein-coding gene	gene with protein product		116948	"""cell division cycle 34"", ""cell division cycle 34 homolog (S. cerevisiae)"""			8248134, 16210246	Standard	NM_004359		Approved	E2-CDC34, UBE2R1, UBC3	uc002lov.3	P49427		ENST00000215574.4:c.528G>A	19.37:g.541369G>A						GZMM_uc002low.1_5'Flank	p.A176A	NM_004359	NP_004350	P49427	UB2R1_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)	5	727	+		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	176					A8K689	Silent	SNP	ENST00000215574.4	37	c.528G>A	CCDS12030.1																																																																																				0.716	CDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451889.2		NM_004359		5	18	0	0	0	1	0	5	18		
FSTL3	10272	broad.mit.edu	37	19	677928	677928	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:677928G>A	ENST00000166139.4	+	2	272	c.240G>A	c.(238-240)aaG>aaA	p.K80K		NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	80	TB.				adrenal gland development (GO:0030325)|cellular response to metal ion (GO:0071248)|hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090101)|ossification (GO:0001503)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|secretory granule (GO:0030141)	activin binding (GO:0048185)|fibronectin binding (GO:0001968)						all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGGAACAAGATCAACCTCC	0.627			T	CCND1	B-CLL																																	uc002lpk.1		NaN		Dom	yes		19	19p13	10272	T	follistatin-like 3 (secreted glycoprotein)			L	CCND1		B-CLL		0					0						c.(238-240)AAG>AAA		follistatin-like 3 glycoprotein precursor							131.0	106.0	115.0					19																	677928		2203	4300	6503	SO:0001819	synonymous_variant	10272				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding	g.chr19:677928G>A	U76702	CCDS12040.1	19p13	2008-07-16				ENSG00000070404			3973	protein-coding gene	gene with protein product	"""follistatin-related protein"""	605343				9671416, 15527507	Standard	NM_005860		Approved	FLRG, FSRP	uc002lpk.1	O95633		ENST00000166139.4:c.240G>A	19.37:g.677928G>A						FSTL3_uc010drt.1_5'Flank	p.K80K	NM_005860	NP_005851	O95633	FSTL3_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)	2	275	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	80			TB.		A8K7E3	Silent	SNP	ENST00000166139.4	37	c.240G>A	CCDS12040.1																																																																																				0.627	FSTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452479.1		NM_005860		29	109	0	0	0	1	0	29	109		
FSTL3	10272	broad.mit.edu	37	19	677931	677931	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:677931C>T	ENST00000166139.4	+	2	275	c.243C>T	c.(241-243)atC>atT	p.I81I		NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	81	TB.				adrenal gland development (GO:0030325)|cellular response to metal ion (GO:0071248)|hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090101)|ossification (GO:0001503)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|secretory granule (GO:0030141)	activin binding (GO:0048185)|fibronectin binding (GO:0001968)						all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAACAAGATCAACCTCCTCG	0.622			T	CCND1	B-CLL																																	uc002lpk.1		NaN		Dom	yes		19	19p13	10272	T	follistatin-like 3 (secreted glycoprotein)			L	CCND1		B-CLL		0					0						c.(241-243)ATC>ATT		follistatin-like 3 glycoprotein precursor							130.0	105.0	114.0					19																	677931		2203	4300	6503	SO:0001819	synonymous_variant	10272				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding	g.chr19:677931C>T	U76702	CCDS12040.1	19p13	2008-07-16				ENSG00000070404			3973	protein-coding gene	gene with protein product	"""follistatin-related protein"""	605343				9671416, 15527507	Standard	NM_005860		Approved	FLRG, FSRP	uc002lpk.1	O95633		ENST00000166139.4:c.243C>T	19.37:g.677931C>T						FSTL3_uc010drt.1_5'Flank	p.I81I	NM_005860	NP_005851	O95633	FSTL3_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)	2	278	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	81			TB.		A8K7E3	Silent	SNP	ENST00000166139.4	37	c.243C>T	CCDS12040.1																																																																																				0.622	FSTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452479.1		NM_005860		29	106	0	0	0	1	0	29	106		
REXO1	57455	broad.mit.edu	37	19	1828237	1828237	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:1828237G>A	ENST00000170168.4	-	2	645	c.551C>T	c.(550-552)tCc>tTc	p.S184F	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	184						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGTCCAGGGACGCCAGCGA	0.716																																						uc002lua.3		NaN																	0					0						c.(550-552)TCC>TTC		transcription elongation factor B polypeptide 3							11.0	15.0	13.0					19																	1828237		2176	4259	6435	SO:0001583	missense	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1828237G>A	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.551C>T	19.37:g.1828237G>A	ENSP00000170168:p.Ser184Phe					REXO1_uc010dsr.1_Missense_Mutation_p.S138F	p.S184F	NM_020695	NP_065746	Q8N1G1	REXO1_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)	2	646	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	184					Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	37	c.551C>T	CCDS32866.1	.	.	.	.	.	.	.	.	.	.	G	8.392	0.839920	0.16891	.	.	ENSG00000079313	ENST00000170168;ENST00000413153	T	0.16897	2.31	3.82	2.79	0.32731	.	0.345278	0.27469	N	0.019222	T	0.14614	0.0353	L	0.39397	1.21	0.09310	N	1	B;P	0.50943	0.011;0.94	B;P	0.44860	0.018;0.462	T	0.10291	-1.0636	10	0.72032	D	0.01	.	5.8471	0.18671	0.1008:0.0:0.7092:0.19	.	138;184	F5H016;Q8N1G1	.;REXO1_HUMAN	F	184;138	ENSP00000170168:S184F	ENSP00000170168:S184F	S	-	2	0	REXO1	1779237	0.967000	0.33354	0.001000	0.08648	0.084000	0.17831	5.926000	0.70070	0.833000	0.34828	0.561000	0.74099	TCC		0.716	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1		NM_020695		7	32	0	0	0	1	0	7	32		
ZNF77	58492	broad.mit.edu	37	19	2939284	2939284	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:2939284G>C	ENST00000314531.4	-	2	217	c.125C>G	c.(124-126)tCc>tGc	p.S42C	ZNF77_ENST00000588050.1_5'Flank	NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	42	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTACCCAAGGAGGCAAGGTT	0.567																																						uc002lws.3		NaN																	0				ovary(1)	1						c.(124-126)TCC>TGC		zinc finger protein 77							125.0	94.0	104.0					19																	2939284		2203	4300	6503	SO:0001583	missense	58492				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	g.chr19:2939284G>C	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.125C>G	19.37:g.2939284G>C	ENSP00000319053:p.Ser42Cys						p.S42C	NM_021217	NP_067040	Q15935	ZNF77_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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)	2	256	-			42			KRAB.		Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	c.125C>G	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	G	7.222	0.597636	0.13875	.	.	ENSG00000175691	ENST00000314531	T	0.56941	0.43	2.63	1.57	0.23409	Krueppel-associated box (4);	.	.	.	.	T	0.68339	0.2990	M	0.87328	2.875	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	T	0.66002	-0.6031	9	0.56958	D	0.05	.	5.045	0.14479	0.1759:0.0:0.8241:0.0	.	42	Q15935	ZNF77_HUMAN	C	42	ENSP00000319053:S42C	ENSP00000319053:S42C	S	-	2	0	ZNF77	2890284	0.080000	0.21391	0.142000	0.22268	0.034000	0.12701	1.662000	0.37418	0.436000	0.26393	0.313000	0.20887	TCC		0.567	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1		NM_021217		18	61	0	0	0	1	0	18	61		
FZR1	51343	broad.mit.edu	37	19	3527044	3527044	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:3527044C>A	ENST00000395095.3	+	5	454	c.454C>A	c.(454-456)Ccc>Acc	p.P152T	FZR1_ENST00000313639.8_Intron|FZR1_ENST00000441788.2_Missense_Mutation_p.P152T	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	152					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCTGTCTCCCGTCAGCAA	0.642																																						uc010dtk.2		NaN																	0				lung(1)|kidney(1)	2						c.(454-456)CCC>ACC		Fzr1 protein isoform 1							205.0	135.0	159.0					19																	3527044		2203	4298	6501	SO:0001583	missense	51343				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding	g.chr19:3527044C>A	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.454C>A	19.37:g.3527044C>A	ENSP00000378529:p.Pro152Thr					FZR1_uc002lxt.2_Missense_Mutation_p.P152T|FZR1_uc002lxv.2_Intron	p.P152T	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	5	488	+			152					O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	c.454C>A	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526555	0.64860	.	.	ENSG00000105325	ENST00000441788;ENST00000395095	T;T	0.08008	3.14;3.14	3.72	3.72	0.42706	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	0.978;1.0	P;D	0.97110	0.706;1.0	T	0.06041	-1.0849	10	0.54805	T	0.06	-39.2452	14.6151	0.68541	0.0:1.0:0.0:0.0	.	152;152	Q9UM11;Q9UM11-2	FZR_HUMAN;.	T	152	ENSP00000410369:P152T;ENSP00000378529:P152T	ENSP00000378529:P152T	P	+	1	0	FZR1	3478044	1.000000	0.71417	0.906000	0.35671	0.621000	0.37620	5.658000	0.68003	2.094000	0.63399	0.555000	0.69702	CCC		0.642	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2		NM_016263		32	112	1	0	6.05902e-23	1	6.45152e-23	32	112		
MFSD12	126321	broad.mit.edu	37	19	3550998	3550998	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:3550998C>G	ENST00000355415.2	-	2	662	c.493G>C	c.(493-495)Gag>Cag	p.E165Q	MFSD12_ENST00000389395.3_Missense_Mutation_p.E165Q|MFSD12_ENST00000591878.1_5'UTR|MFSD12_ENST00000398558.4_Missense_Mutation_p.E165Q|AC005786.7_ENST00000589360.1_RNA	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	165					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						GCCGTGAGCTCCACCTTCTCA	0.642																																						uc002lxz.2		NaN																	0				breast(1)|pancreas(1)	2						c.(493-495)GAG>CAG		hypothetical protein LOC126321 isoform c							19.0	21.0	20.0					19																	3550998		1986	4144	6130	SO:0001583	missense	126321				transmembrane transport	integral to membrane		g.chr19:3550998C>G	AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 28"""	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.493G>C	19.37:g.3550998C>G	ENSP00000347583:p.Glu165Gln					C19orf28_uc002lxw.2_Missense_Mutation_p.E165Q|C19orf28_uc002lxx.2_Missense_Mutation_p.E165Q|C19orf28_uc002lxy.2_Missense_Mutation_p.E156Q	p.E165Q	NM_174983	NP_778148	Q6NUT3	CS028_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)	2	663	-		Hepatocellular(1079;0.137)	165					A8MXP7|D6W615|E9PAJ8|Q8N459	Missense_Mutation	SNP	ENST00000355415.2	37	c.493G>C	CCDS42465.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513937	0.64522	.	.	ENSG00000161091	ENST00000389395;ENST00000398558;ENST00000355415	D;D;D	0.87256	-2.23;-2.23;-2.23	5.13	5.13	0.70059	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.89269	0.6667	L	0.49513	1.565	0.80722	D	1	P;P;P	0.49961	0.804;0.915;0.93	P;P;P	0.55222	0.771;0.596;0.718	D	0.87042	0.2141	10	0.25751	T	0.34	-31.3854	17.5569	0.87894	0.0:1.0:0.0:0.0	.	165;156;165	Q6NUT3;Q6NUT3-2;A8MXP7	CS028_HUMAN;.;.	Q	165	ENSP00000374046:E165Q;ENSP00000381566:E165Q;ENSP00000347583:E165Q	ENSP00000347583:E165Q	E	-	1	0	C19orf28	3501998	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	7.048000	0.76606	2.393000	0.81446	0.462000	0.41574	GAG		0.642	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452949.2		NM_174983		17	28	0	0	0	1	0	17	28		
GIPC3	126326	broad.mit.edu	37	19	3590172	3590172	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:3590172G>C	ENST00000322315.5	+	6	968	c.923G>C	c.(922-924)aGa>aCa	p.R308T		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	308										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGAGGCCAGAGAGGCCTGT	0.687																																						uc002lyd.3		NaN																	0				breast(1)	1						c.(922-924)AGA>ACA		GIPC PDZ domain containing family, member 3							21.0	27.0	25.0					19																	3590172		2203	4300	6503	SO:0001583	missense	126326							g.chr19:3590172G>C	AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"""chromosome 19 open reading frame 64"", ""deafness, autosomal recessive 72"", ""deafness, autosomal recessive 15"""	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.923G>C	19.37:g.3590172G>C	ENSP00000319254:p.Arg308Thr						p.R308T	NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	6	950	+			308					O75227	Missense_Mutation	SNP	ENST00000322315.5	37	c.923G>C	CCDS32871.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621231	0.46736	.	.	ENSG00000179855	ENST00000322315	D	0.83506	-1.73	4.28	1.9	0.25705	.	0.247838	0.32081	N	0.006606	T	0.71126	0.3303	L	0.41492	1.28	0.34152	D	0.667628	B	0.22276	0.067	B	0.14023	0.01	T	0.70321	-0.4904	10	0.87932	D	0	-19.285	4.248	0.10680	0.5268:0.0:0.4732:0.0	.	308	Q8TF64	GIPC3_HUMAN	T	308	ENSP00000319254:R308T	ENSP00000319254:R308T	R	+	2	0	GIPC3	3541172	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	1.229000	0.32600	0.774000	0.33427	0.491000	0.48974	AGA		0.687	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1		NM_133261		4	10	0	0	0	1	0	4	10		
MATK	4145	broad.mit.edu	37	19	3779175	3779175	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:3779175C>G	ENST00000310132.6	-	12	1410	c.1012G>C	c.(1012-1014)Gag>Cag	p.E338Q	MATK_ENST00000395045.2_Missense_Mutation_p.E339Q|MATK_ENST00000585778.1_Missense_Mutation_p.E338Q|MATK_ENST00000395040.2_Missense_Mutation_p.E297Q	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	338	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCATGCCCTCGGCCACGTGC	0.652																																						uc002lyt.2		NaN																	0				stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5						c.(1012-1014)GAG>CAG		megakaryocyte-associated tyrosine kinase isoform							21.0	22.0	22.0					19																	3779175		2202	4299	6501	SO:0001583	missense	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3779175C>G	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.1012G>C	19.37:g.3779175C>G	ENSP00000308734:p.Glu338Gln					MATK_uc002lyv.2_Missense_Mutation_p.E339Q|MATK_uc002lyu.2_Missense_Mutation_p.E297Q|MATK_uc010dtq.2_Missense_Mutation_p.E338Q	p.E338Q	NM_139355	NP_647612	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1412	-		Hepatocellular(1079;0.137)	338			Protein kinase.		B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	c.1012G>C	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.921514	0.33908	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	D;D;D	0.82803	-1.65;-1.65;-1.65	4.2	4.2	0.49525	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.300512	0.30771	N	0.008913	T	0.72003	0.3407	L	0.33339	1.005	0.36305	D	0.857319	P;P;P	0.38800	0.535;0.648;0.535	B;B;B	0.32928	0.155;0.109;0.155	T	0.79671	-0.1706	10	0.56958	D	0.05	-33.0755	11.5701	0.50829	0.0:0.6858:0.3142:0.0	.	338;339;338	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	Q	339;338;297	ENSP00000378485:E339Q;ENSP00000308734:E338Q;ENSP00000378481:E297Q	ENSP00000308734:E338Q	E	-	1	0	MATK	3730175	1.000000	0.71417	0.986000	0.45419	0.881000	0.50899	4.609000	0.61148	2.073000	0.62155	0.478000	0.44815	GAG		0.652	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1		NM_139355		4	20	0	0	0	1	0	4	20		
PTPRS	5802	broad.mit.edu	37	19	5231463	5231463	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:5231463C>T	ENST00000587303.1	-	13	2112	c.2013G>A	c.(2011-2013)gtG>gtA	p.V671V	PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000357368.4_Silent_p.V671V|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000372412.4_Silent_p.V672V|PTPRS_ENST00000348075.2_Silent_p.V658V|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000262963.6_Silent_p.V667V|PTPRS_ENST00000588012.1_Silent_p.V658V			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	671	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGATGCCGTTCACCTCCTTGG	0.672																																						uc002mbv.2		NaN																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)	4						c.(2011-2013)GTG>GTA		protein tyrosine phosphatase, receptor type,							59.0	46.0	50.0					19																	5231463		2203	4300	6503	SO:0001819	synonymous_variant	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5231463C>T	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.2013G>A	19.37:g.5231463C>T						PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Silent_p.V658V|PTPRS_uc002mbx.2_Intron|PTPRS_uc002mby.2_Intron	p.V671V	NM_002850	NP_002841	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	14	2247	-			671			Extracellular (Potential).|Fibronectin type-III 4.		O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	ENST00000587303.1	37	c.2013G>A	CCDS45930.1																																																																																				0.672	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2				20	46	0	0	0	1	0	20	46		
LONP1	9361	broad.mit.edu	37	19	5711936	5711936	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:5711936G>A	ENST00000360614.3	-	4	873	c.716C>T	c.(715-717)tCa>tTa	p.S239L	LONP1_ENST00000590729.1_Missense_Mutation_p.S125L|LONP1_ENST00000585374.1_Missense_Mutation_p.S125L|LONP1_ENST00000593119.1_Missense_Mutation_p.S175L|LONP1_ENST00000540670.2_Missense_Mutation_p.S43L	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCCCCGCTTTGACTTCCTGCG	0.667																																						uc002mcx.2		NaN																	0					0						c.(715-717)TCA>TTA		mitochondrial lon peptidase 1 precursor							39.0	41.0	40.0					19																	5711936		2203	4300	6503	SO:0001583	missense	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5711936G>A	U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"""ATPases / AAA-type"", ""Serine peptidases / Serine peptidases"""	9479	protein-coding gene	gene with protein product		605490	"""protease, serine, 15"""	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.716C>T	19.37:g.5711936G>A	ENSP00000353826:p.Ser239Leu					LONP1_uc002mcy.2_Missense_Mutation_p.S175L|LONP1_uc010duh.2_5'UTR|LONP1_uc010dui.2_Missense_Mutation_p.S239L|LONP1_uc002mcz.2_Missense_Mutation_p.S43L	p.S239L	NM_004793	NP_004784	P36776	LONM_HUMAN			4	749	-			239			Lon.			Missense_Mutation	SNP	ENST00000360614.3	37	c.716C>T	CCDS12148.1	.	.	.	.	.	.	.	.	.	.	G	6.087	0.384289	0.11524	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.23552	2.21;1.9	4.96	1.59	0.23543	Peptidase S16, lon N-terminal (2);	2.440400	0.01588	N	0.021383	T	0.18425	0.0442	N	0.25890	0.77	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.003;0.001	T	0.14839	-1.0458	10	0.27785	T	0.31	-16.4137	3.9479	0.09356	0.2858:0.0:0.5502:0.164	.	239;175;239	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	L	239;203;43	ENSP00000353826:S239L;ENSP00000441523:S43L	ENSP00000351177:S203L	S	-	2	0	LONP1	5662936	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	0.149000	0.16243	0.484000	0.27630	-0.266000	0.10368	TCA		0.667	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1		NM_004793		27	65	0	0	0	1	0	27	65		
KHSRP	8570	broad.mit.edu	37	19	6426469	6426469	+	5'Flank	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:6426469C>T	ENST00000398148.3	-	0	0				SLC25A41_ENST00000321510.6_Silent_p.L348L	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GTAAGACCTTCAGTAGCGTGG	0.602																																					Colon(55;593 1006 2067 9135 22980)	uc010dus.2		NaN																	0					0						c.(1042-1044)CTG>CTA		solute carrier family 25, member 41							91.0	94.0	93.0					19																	6426469		2104	4223	6327	SO:0001631	upstream_gene_variant	284427				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:6426469C>T	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945			19.37:g.6426469C>T	Exception_encountered					KHSRP_uc002mer.3_5'Flank|SLC25A41_uc010dut.2_Silent_p.L210L	p.L348L	NM_173637	NP_775908	Q8N5S1	S2541_HUMAN			7	1130	-			348			Helical; Name=6; (Potential).|Solcar 3.		O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Silent	SNP	ENST00000398148.3	37	c.1044G>A	CCDS45936.1																																																																																				0.602	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1				25	78	0	0	0	1	0	25	78		
DENND1C	79958	broad.mit.edu	37	19	6467705	6467705	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:6467705G>C	ENST00000381480.2	-	23	2328	c.2216C>G	c.(2215-2217)tCa>tGa	p.S739*	DENND1C_ENST00000543576.1_Nonsense_Mutation_p.S695*	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	739					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						ACTGGGGTCTGAGGAAGGATC	0.632																																						uc002mfe.2		NaN																	0				large_intestine(1)	1						c.(2215-2217)TCA>TGA		DENN/MADD domain containing 1C							20.0	22.0	22.0					19																	6467705		1858	4095	5953	SO:0001587	stop_gained	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6467705G>C	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.2216C>G	19.37:g.6467705G>C	ENSP00000370889:p.Ser739*					DENND1C_uc002mfb.2_Nonsense_Mutation_p.S289*|DENND1C_uc002mfc.2_Nonsense_Mutation_p.S289*|DENND1C_uc002mfd.2_Nonsense_Mutation_p.S289*|DENND1C_uc010xje.1_Nonsense_Mutation_p.S695*	p.S739*	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN			23	2308	-			739					B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Nonsense_Mutation	SNP	ENST00000381480.2	37	c.2216C>G	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	G	32	5.187672	0.94923	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	.	.	.	4.27	-0.668	0.11392	.	3.429160	0.01167	N	0.006777	.	.	.	.	.	.	0.51767	D	0.999931	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	0.1089	7.7836	0.29078	0.3762:0.0:0.6238:0.0	.	.	.	.	X	739;695	.	ENSP00000370889:S739X	S	-	2	0	DENND1C	6418705	0.000000	0.05858	0.003000	0.11579	0.215000	0.24574	-0.004000	0.12878	0.035000	0.15519	0.306000	0.20318	TCA		0.632	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2		NM_024898		8	29	0	0	0	1	0	8	29		
C3	718	broad.mit.edu	37	19	6692953	6692953	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:6692953C>T	ENST00000245907.6	-	26	3464	c.3372G>A	c.(3370-3372)gtG>gtA	p.V1124V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1124					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CTTGGTGTATCACGGGCGCAT	0.562																																						uc002mfm.2		NaN																	0				skin(3)|ovary(1)|pancreas(1)	5						c.(3370-3372)GTG>GTA		complement component 3 precursor							120.0	125.0	123.0					19																	6692953		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6692953C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3372G>A	19.37:g.6692953C>T						C3_uc002mfl.2_5'UTR	p.V1124V	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	26	3434	-			1124					A7E236	Silent	SNP	ENST00000245907.6	37	c.3372G>A	CCDS32883.1																																																																																				0.562	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2		NM_000064		48	185	0	0	0	1	0	48	185		
NDUFA7	4701	broad.mit.edu	37	19	8381530	8381530	+	Splice_Site	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:8381530C>A	ENST00000301457.2	-	3	139		c.e3-1		NDUFA7_ENST00000598884.1_Splice_Site	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						AGGCTGAGTTCTGAGGGGAAA	0.562																																						uc002mjm.1		NaN																	0					0						c.e3-1		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						58.0	67.0	64.0					19																	8381530		1985	4159	6144	SO:0001630	splice_region_variant	4701				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr19:8381530C>A	AF050637	CCDS42492.1	19p13.2	2013-05-14	2002-08-29		ENSG00000267855	ENSG00000267855		"""Mitochondrial respiratory chain complex / Complex I"""	7691	protein-coding gene	gene with protein product	"""complex I B14.5a subunit"""	602139	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (14.5kD, B14.5a)"""			9763676	Standard	NM_005001		Approved	B14.5a	uc002mjm.2	O95182	OTTHUMG00000182459	ENST00000301457.2:c.102-1G>T	19.37:g.8381530C>A							p.R34_splice	NM_005001	NP_004992	O95182	NDUA7_HUMAN			3	140	-									Splice_Site	SNP	ENST00000301457.2	37	c.102_splice	CCDS42492.1	.	.	.	.	.	.	.	.	.	.	C	34	5.330220	0.95733	.	.	ENSG00000167774	ENST00000301457	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5549	0.87887	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NDUFA7	8287530	1.000000	0.71417	0.202000	0.23494	0.902000	0.53008	7.429000	0.80309	2.493000	0.84123	0.561000	0.74099	.		0.562	NDUFA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461373.1		NM_005001	Intron	24	92	1	0	7.33532e-06	1	7.51282e-06	24	92		
RPS28	6234	broad.mit.edu	37	19	8386542	8386542	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:8386542C>T	ENST00000600659.2	+	2	73	c.42C>T	c.(40-42)gtC>gtT	p.V14V	NDUFA7_ENST00000301457.2_5'Flank|NDUFA7_ENST00000598884.1_5'Flank	NM_001031.4	NP_001022.1	P62857	RS28_HUMAN	ribosomal protein S28	14					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)										TCCTCCAGGTCACCAAGGTCC	0.637																																						uc002mjn.2		NaN																	0					0						c.(40-42)GTC>GTT		ribosomal protein S28							12.0	14.0	13.0					19																	8386542		1872	4091	5963	SO:0001819	synonymous_variant	6234				endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr19:8386542C>T	D14530	CCDS45953.1	19p13.2	2011-04-06				ENSG00000233927		"""S ribosomal proteins"""	10418	protein-coding gene	gene with protein product	"""40S ribosomal protein S28"""	603685				8415000, 9582194	Standard	NM_001031		Approved	S28	uc002mjn.3	P62857		ENST00000600659.2:c.42C>T	19.37:g.8386542C>T						NDUFA7_uc002mjm.1_5'Flank	p.V14V	NM_001031	NP_001022	P62857	RS28_HUMAN			2	73	+			14					P25112	Silent	SNP	ENST00000600659.2	37	c.42C>T	CCDS45953.1																																																																																				0.637	RPS28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461377.3		NM_001031		6	18	0	0	0	1	0	6	18		
MUC16	94025	broad.mit.edu	37	19	9059942	9059942	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9059942G>A	ENST00000397910.4	-	3	27707	c.27504C>T	c.(27502-27504)caC>caT	p.H9168H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9170	Ser-rich.|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)				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						GCGAAGAAGAGTGGATGCTGT	0.517																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(27502-27504)CAC>CAT		mucin 16							87.0	83.0	85.0					19																	9059942		2048	4211	6259	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9059942G>A	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.27504C>T	19.37:g.9059942G>A							p.H9168H	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	27708	-			9170			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.27504C>T	CCDS54212.1																																																																																				0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		10	54	0	0	0	1	0	10	54		
MUC16	94025	broad.mit.edu	37	19	9071650	9071650	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9071650C>T	ENST00000397910.4	-	3	15999	c.15796G>A	c.(15796-15798)Gaa>Aaa	p.E5266K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5268	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)				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						ATCGTCATTTCTGCAGATTTT	0.512																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(15796-15798)GAA>AAA		mucin 16							179.0	174.0	176.0					19																	9071650		2051	4195	6246	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071650C>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.15796G>A	19.37:g.9071650C>T	ENSP00000381008:p.Glu5266Lys						p.E5266K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	16000	-			5268			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.15796G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.890	0.348315	0.11126	.	.	ENSG00000181143	ENST00000397910	T	0.02682	4.2	1.94	-1.86	0.07760	.	.	.	.	.	T	0.01940	0.0061	L	0.27053	0.805	.	.	.	B	0.26845	0.161	B	0.14023	0.01	T	0.44065	-0.9352	8	0.87932	D	0	.	2.8297	0.05496	0.0:0.4203:0.2462:0.3335	.	5266	B5ME49	.	K	5266	ENSP00000381008:E5266K	ENSP00000381008:E5266K	E	-	1	0	MUC16	8932650	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.632000	0.05489	-0.364000	0.08088	-0.403000	0.06358	GAA		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		11	93	0	0	0	1	0	11	93		
MUC16	94025	broad.mit.edu	37	19	9083542	9083542	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9083542G>A	ENST00000397910.4	-	1	8476	c.8273C>T	c.(8272-8274)tCc>tTc	p.S2758F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2758	Ser-rich.|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)				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						GAATACAAGGGAACCAGTAGT	0.488																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(8272-8274)TCC>TTC		mucin 16							90.0	85.0	86.0					19																	9083542		1892	4121	6013	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9083542G>A	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.8273C>T	19.37:g.9083542G>A	ENSP00000381008:p.Ser2758Phe						p.S2758F	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	8477	-			2758			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.8273C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.029	-1.346673	0.01266	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	0.235	-0.47	0.12131	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	.	.	.	B	0.24317	0.101	B	0.18263	0.021	T	0.45086	-0.9285	7	0.87932	D	0	.	.	.	.	.	2758	B5ME49	.	F	2758	ENSP00000381008:S2758F	ENSP00000381008:S2758F	S	-	2	0	MUC16	8944542	0.011000	0.17503	0.005000	0.12908	0.005000	0.04900	-0.571000	0.05889	-0.818000	0.04329	-0.823000	0.03104	TCC		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		19	57	0	0	0	1	0	19	57		
OR1M1	125963	broad.mit.edu	37	19	9204520	9204520	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9204520C>G	ENST00000429566.3	+	1	666	c.600C>G	c.(598-600)ctC>ctG	p.L200L		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TCTTCATCCTCATTGTGGCAG	0.567																																						uc010xkj.1		NaN																	0				skin(3)	3						c.(598-600)CTC>CTG		olfactory receptor, family 1, subfamily M,							132.0	108.0	116.0					19																	9204520		2203	4300	6503	SO:0001819	synonymous_variant	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204520C>G		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.600C>G	19.37:g.9204520C>G							p.L200L	NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN			1	600	+			200			Helical; Name=5; (Potential).		B9EHA6|Q6IFJ3|Q96R91	Silent	SNP	ENST00000429566.3	37	c.600C>G	CCDS32896.1																																																																																				0.567	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1				31	138	0	0	0	1	0	31	138		
OR7D2	162998	broad.mit.edu	37	19	9297281	9297281	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9297281C>T	ENST00000344248.2	+	1	1003	c.824C>T	c.(823-825)tCg>tTg	p.S275L		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	275					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TCCGTGGCCTCGGTGATGTAC	0.547																																						uc002mkz.1		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(823-825)TCG>TTG		olfactory receptor, family 7, subfamily D,							82.0	77.0	79.0					19																	9297281		2203	4300	6503	SO:0001583	missense	162998				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9297281C>T	AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.824C>T	19.37:g.9297281C>T	ENSP00000345563:p.Ser275Leu						p.S275L	NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN			1	1012	+			275			Helical; Name=7; (Potential).		Q6IFJ7|Q8N133	Missense_Mutation	SNP	ENST00000344248.2	37	c.824C>T	CCDS32900.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666938	0.47677	.	.	ENSG00000188000	ENST00000344248	T	0.00265	8.39	2.2	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34676	U	0.003765	T	0.00695	0.0023	H	0.94542	3.55	0.24024	N	0.996137	D	0.76494	0.999	D	0.68353	0.957	T	0.14839	-1.0458	10	0.72032	D	0.01	.	11.9676	0.53044	0.0:1.0:0.0:0.0	.	275	Q96RA2	OR7D2_HUMAN	L	275	ENSP00000345563:S275L	ENSP00000345563:S275L	S	+	2	0	OR7D2	9158281	0.001000	0.12720	0.940000	0.37924	0.478000	0.33099	1.187000	0.32090	1.578000	0.49821	0.505000	0.49811	TCG		0.547	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1				32	99	0	0	0	1	0	32	99		
OR7E24	26648	broad.mit.edu	37	19	9362193	9362193	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9362193C>T	ENST00000456448.1	+	1	588	c.474C>T	c.(472-474)ctC>ctT	p.L158L		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						ACCCACGCCTCTGTGGCTTCT	0.458																																						uc002mlb.1		NaN																	0				skin(1)	1						c.(472-474)CTC>CTT		olfactory receptor, family 7, subfamily E,							131.0	145.0	140.0					19																	9362193		2188	4288	6476	SO:0001819	synonymous_variant	26648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9362193C>T	Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.474C>T	19.37:g.9362193C>T							p.L158L	NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN			1	474	+			158			Helical; Name=4; (Potential).		B9EJD9|Q9UPJ1	Silent	SNP	ENST00000456448.1	37	c.474C>T	CCDS45955.1																																																																																				0.458	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1				10	44	0	0	0	1	0	10	44		
ZNF560	147741	broad.mit.edu	37	19	9578284	9578284	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9578284G>C	ENST00000301480.4	-	10	1552	c.1339C>G	c.(1339-1341)Ctt>Gtt	p.L447V		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGTCCAAAAAGAGATGGGTAA	0.403																																						uc002mlp.1		NaN																	0				skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						c.(1339-1341)CTT>GTT		zinc finger protein 560							122.0	133.0	129.0					19																	9578284		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9578284G>C	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1339C>G	19.37:g.9578284G>C	ENSP00000301480:p.Leu447Val					ZNF560_uc010dwr.1_Missense_Mutation_p.L341V	p.L447V	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN			10	1549	-			447			C2H2-type 5.		Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.1339C>G	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.414022	0.25465	.	.	ENSG00000198028	ENST00000301480	T	0.54675	0.56	1.93	0.825	0.18824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.64427	0.2597	M	0.64404	1.975	0.25835	N	0.984129	D	0.76494	0.999	D	0.75484	0.986	T	0.51965	-0.8638	9	0.72032	D	0.01	.	6.9035	0.24295	0.1601:0.0:0.8399:0.0	.	447	Q96MR9	ZN560_HUMAN	V	447	ENSP00000301480:L447V	ENSP00000301480:L447V	L	-	1	0	ZNF560	9439284	0.641000	0.27251	0.031000	0.17742	0.114000	0.19823	1.322000	0.33689	0.352000	0.24053	0.591000	0.81541	CTT		0.403	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1		NM_152476		32	101	0	0	0	1	0	32	101		
ZNF426	79088	broad.mit.edu	37	19	9639182	9639182	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9639182G>A	ENST00000535489.1	-	6	1875	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	ZNF426_ENST00000593003.1_Silent_p.F475F|ZNF426_ENST00000253115.2_Silent_p.F513F			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	513					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TGGAACACGTGAAGGCTTTCC	0.428																																						uc002mlq.2		NaN																	0				ovary(1)	1						c.(1537-1539)TTC>TTT		zinc finger protein 426							105.0	99.0	101.0					19																	9639182		2203	4300	6503	SO:0001819	synonymous_variant	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9639182G>A	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.1539C>T	19.37:g.9639182G>A						ZNF426_uc010dws.2_Silent_p.F475F	p.F513F	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN			8	1803	-			513			C2H2-type 11.		B3KTL2	Silent	SNP	ENST00000535489.1	37	c.1539C>T	CCDS12215.1																																																																																				0.428	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1		NM_024106		22	81	0	0	0	1	0	22	81		
ZNF561	93134	broad.mit.edu	37	19	9727726	9727726	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9727726G>A	ENST00000302851.3	-	4	599	c.236C>T	c.(235-237)tCt>tTt	p.S79F	ZNF561_ENST00000326044.5_Missense_Mutation_p.S79F|ZNF561_ENST00000424629.1_Missense_Mutation_p.S10F|ZNF561_ENST00000354661.4_5'UTR|ZNF561_ENST00000495503.1_5'UTR	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	79	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						CTTACCCACAGAGGCCAGGTT	0.537																																						uc002mlu.2		NaN																	0				ovary(1)	1						c.(235-237)TCT>TTT		zinc finger protein 561							118.0	87.0	97.0					19																	9727726		2203	4300	6503	SO:0001583	missense	93134				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9727726G>A	AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"""Zinc fingers, C2H2-type"", ""-"""	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.236C>T	19.37:g.9727726G>A	ENSP00000303915:p.Ser79Phe					ZNF561_uc010dwu.2_Missense_Mutation_p.S10F|ZNF561_uc010xkr.1_5'UTR	p.S79F	NM_152289	NP_689502	Q8N587	ZN561_HUMAN			4	441	-			79			KRAB.		B4E2Q8|Q6PJS0	Missense_Mutation	SNP	ENST00000302851.3	37	c.236C>T	CCDS12216.2	.	.	.	.	.	.	.	.	.	.	G	12.51	1.958437	0.34565	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000326044;ENST00000444611	T;T;T;T	0.09073	3.02;4.02;4.02;4.02	1.72	1.72	0.24424	Krueppel-associated box (4);	.	.	.	.	T	0.16854	0.0405	L	0.45285	1.41	0.21290	N	0.999739	D	0.67145	0.996	D	0.77557	0.99	T	0.10474	-1.0628	9	0.40728	T	0.16	.	6.8857	0.24199	0.0:0.0:1.0:0.0	.	79	Q8N587	ZN561_HUMAN	F	10;79;79;85	ENSP00000393074:S10F;ENSP00000303915:S79F;ENSP00000370284:S79F;ENSP00000392013:S85F	ENSP00000303915:S79F	S	-	2	0	ZNF561	9588726	0.006000	0.16342	0.001000	0.08648	0.106000	0.19336	1.736000	0.38187	1.257000	0.44085	0.305000	0.20034	TCT		0.537	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2		NM_152289		14	62	0	0	0	1	0	14	62		
FBXL12	54850	broad.mit.edu	37	19	9921757	9921757	+	Missense_Mutation	SNP	G	G	A	rs370622099		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9921757G>A	ENST00000247977.4	-	3	1037	c.796C>T	c.(796-798)Cca>Tca	p.P266S	FBXL12_ENST00000591009.1_Missense_Mutation_p.P213S|FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000585379.1_Missense_Mutation_p.P213S|FBXL12_ENST00000586651.1_3'UTR	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	266					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						GGCATTTCTGGGGTGACGAGG	0.662																																						uc002mme.2		NaN																	0				lung(1)|kidney(1)	2						c.(796-798)CCA>TCA		F-box and leucine-rich repeat protein 12		G	SER/PRO	0,4406		0,0,2203	34.0	35.0	35.0		796	4.3	0.7	19		35	1,8599	1.2+/-3.3	0,1,4299	no	missense	FBXL12	NM_017703.1	74	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	266/327	9921757	1,13005	2203	4300	6503	SO:0001583	missense	54850						protein binding	g.chr19:9921757G>A	AK000195	CCDS12218.1	19p13.2	2011-06-09				ENSG00000127452		"""F-boxes / Leucine-rich repeats"""	13611	protein-coding gene	gene with protein product		609079				10531037	Standard	XM_005259964		Approved	FLJ20188, Fbl12	uc002mme.3	Q9NXK8		ENST00000247977.4:c.796C>T	19.37:g.9921757G>A	ENSP00000247977:p.Pro266Ser					FBXL12_uc002mmd.2_Missense_Mutation_p.P213S|FBXL12_uc002mmf.2_Missense_Mutation_p.P213S|FBXL12_uc002mmg.2_Missense_Mutation_p.P213S|FBXL12_uc002mmh.2_Missense_Mutation_p.P213S	p.P266S	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN			3	1038	-			266			LRR 8.		B3KSJ8|Q9H5K4	Missense_Mutation	SNP	ENST00000247977.4	37	c.796C>T	CCDS12218.1	.	.	.	.	.	.	.	.	.	.	G	4.636	0.118223	0.08881	0.0	1.16E-4	ENSG00000127452	ENST00000247977	T	0.21543	2.0	4.28	4.28	0.50868	.	0.907135	0.09197	N	0.835193	T	0.14399	0.0348	N	0.14661	0.345	0.80722	D	1	B	0.29253	0.239	B	0.30943	0.122	T	0.09335	-1.0679	9	.	.	.	.	12.4257	0.55544	0.0:0.0:1.0:0.0	.	266	Q9NXK8	FXL12_HUMAN	S	266	ENSP00000247977:P266S	.	P	-	1	0	FBXL12	9782757	1.000000	0.71417	0.739000	0.30968	0.131000	0.20780	2.944000	0.49034	2.390000	0.81377	0.563000	0.77884	CCA		0.662	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450265.1		NM_017703		5	24	0	0	0	1	0	5	24		
DNMT1	1786	broad.mit.edu	37	19	10246920	10246920	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:10246920G>A	ENST00000340748.4	-	37	4720	c.4485C>T	c.(4483-4485)ctC>ctT	p.L1495L	DNMT1_ENST00000359526.4_Silent_p.L1511L|DNMT1_ENST00000540357.1_Silent_p.L1498L			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1495	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	ACCAGGGGATGAGGGTGTTGA	0.627																																						uc002mng.2		NaN																	0				ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6						c.(4483-4485)CTC>CTT		DNA (cytosine-5-)-methyltransferase 1 isoform b	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						60.0	52.0	55.0					19																	10246920		2203	4300	6503	SO:0001819	synonymous_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10246920G>A	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.4485C>T	19.37:g.10246920G>A						DNMT1_uc002mne.2_RNA|DNMT1_uc002mnf.2_Silent_p.L419L|DNMT1_uc010xlc.1_Silent_p.L1511L|DNMT1_uc002mnh.2_Silent_p.L1390L|DNMT1_uc010xld.1_Silent_p.L1498L	p.L1495L	NM_001379	NP_001370	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		37	4665	-			1495			Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	ENST00000340748.4	37	c.4485C>T	CCDS12228.1																																																																																				0.627	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1		NM_001379		9	34	0	0	0	1	0	9	34		
PRKCSH	5589	broad.mit.edu	37	19	11558333	11558333	+	Missense_Mutation	SNP	C	C	T	rs142627856		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:11558333C>T	ENST00000589838.1	+	10	929	c.929C>T	c.(928-930)tCg>tTg	p.S310L	PRKCSH_ENST00000587327.1_Missense_Mutation_p.S310L|PRKCSH_ENST00000412601.1_Missense_Mutation_p.S310L|PRKCSH_ENST00000591462.1_Missense_Mutation_p.S310L|PRKCSH_ENST00000592741.1_Missense_Mutation_p.S310L|PRKCSH_ENST00000252455.2_Missense_Mutation_p.S310L			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	310					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						GTGCCCTCGTCGCCCACAgag	0.657																																						uc002mrt.2		NaN																	0					0						c.(928-930)TCG>TTG		protein kinase C substrate 80K-H isoform 1		C	LEU/SER,LEU/SER	0,4400		0,0,2200	28.0	29.0	28.0		929,929	-7.3	0.0	19	dbSNP_134	28	1,8587	1.2+/-3.3	0,1,4293	no	missense,missense	PRKCSH	NM_001001329.1,NM_002743.2	145,145	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	310/526,310/529	11558333	1,12987	2200	4294	6494	SO:0001583	missense	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11558333C>T		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.929C>T	19.37:g.11558333C>T	ENSP00000465461:p.Ser310Leu					PRKCSH_uc002mru.2_Missense_Mutation_p.S310L|PRKCSH_uc010xlz.1_Missense_Mutation_p.S310L|PRKCSH_uc010dya.2_Intron|PRKCSH_uc002mrv.1_Missense_Mutation_p.S310L|PRKCSH_uc010dyb.2_Missense_Mutation_p.S310L	p.S310L	NM_002743	NP_002734	P14314	GLU2B_HUMAN			11	1265	+			310					A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	ENST00000589838.1	37	c.929C>T	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	C	8.579	0.881797	0.17467	0.0	1.16E-4	ENSG00000130175	ENST00000252455;ENST00000412601	T;T	0.72505	-0.64;-0.66	3.67	-7.34	0.01427	.	2.606440	0.01163	N	0.006680	T	0.45637	0.1352	N	0.14661	0.345	0.09310	N	1	B;B;B	0.22003	0.063;0.021;0.012	B;B;B	0.15870	0.011;0.014;0.003	T	0.24870	-1.0148	10	0.25751	T	0.34	-0.0542	2.9908	0.05982	0.5612:0.162:0.1116:0.1653	.	310;310;310	E7EQZ9;A8K318;P14314	.;.;GLU2B_HUMAN	L	310	ENSP00000252455:S310L;ENSP00000395616:S310L	ENSP00000252455:S310L	S	+	2	0	PRKCSH	11419333	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.695000	0.01913	-1.311000	0.02309	0.491000	0.48974	TCG		0.657	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1				6	35	0	0	0	1	0	6	35		
ACP5	54	broad.mit.edu	37	19	11687567	11687567	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:11687567G>A	ENST00000592828.1	-	5	755	c.353C>T	c.(352-354)tCt>tTt	p.S118F	ACP5_ENST00000412435.2_Missense_Mutation_p.S118F|ACP5_ENST00000433365.2_Missense_Mutation_p.S118F|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000218758.5_Missense_Mutation_p.S118F	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	118					bone morphogenesis (GO:0060349)|bone resorption (GO:0045453)|defense response to Gram-positive bacterium (GO:0050830)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of superoxide anion generation (GO:0032929)|negative regulation of tumor necrosis factor production (GO:0032720)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	acid phosphatase activity (GO:0003993)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)	p.S118I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						AATCTGGGCAGAGACATTGCC	0.572																																						uc002msg.3		NaN																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(352-354)TCT>TTT		acid phosphatase 5, tartrate resistant							177.0	168.0	171.0					19																	11687567		2203	4300	6503	SO:0001583	missense	54				water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding	g.chr19:11687567G>A	X14618	CCDS12265.1	19p13.2	2012-10-02			ENSG00000102575	ENSG00000102575	3.1.3.2		124	protein-coding gene	gene with protein product	"""tartrate-resistant acid phosphatase"""	171640				8449511, 2338077	Standard	NM_001611		Approved	TRAP	uc002msj.4	P13686	OTTHUMG00000182036	ENST00000592828.1:c.353C>T	19.37:g.11687567G>A	ENSP00000468767:p.Ser118Phe					ACP5_uc002msh.3_Missense_Mutation_p.S118F|ACP5_uc002msi.3_Missense_Mutation_p.S118F|ACP5_uc002msj.3_Missense_Mutation_p.S118F|ACP5_uc010dye.1_3'UTR	p.S118F	NM_001611	NP_001602	P13686	PPA5_HUMAN			3	499	-			118					A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	Missense_Mutation	SNP	ENST00000592828.1	37	c.353C>T	CCDS12265.1	.	.	.	.	.	.	.	.	.	.	g	13.56	2.273711	0.40194	.	.	ENSG00000102575	ENST00000218758;ENST00000412435;ENST00000433365	T;T;T	0.71698	-0.59;-0.59;-0.59	5.04	4.0	0.46444	Metallophosphoesterase domain (1);	0.190687	0.45606	D	0.000345	T	0.82176	0.4980	M	0.75615	2.305	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.83608	0.0132	10	0.66056	D	0.02	-7.6342	12.3404	0.55091	0.0846:0.0:0.9154:0.0	.	118	P13686	PPA5_HUMAN	F	118	ENSP00000218758:S118F;ENSP00000392374:S118F;ENSP00000413456:S118F	ENSP00000218758:S118F	S	-	2	0	ACP5	11548567	0.983000	0.35010	0.624000	0.29186	0.002000	0.02628	2.262000	0.43285	1.116000	0.41820	-0.136000	0.14681	TCT		0.572	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458881.1				42	131	0	0	0	1	0	42	131		
ZNF491	126069	broad.mit.edu	37	19	11917627	11917627	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:11917627C>T	ENST00000323169.5	+	3	1190	c.859C>T	c.(859-861)Caa>Taa	p.Q287*	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						CAGTTCATTTCAAAGGCATGA	0.423																																						uc002mso.1		NaN																	0				ovary(2)	2						c.(859-861)CAA>TAA		zinc finger protein 491							53.0	53.0	53.0					19																	11917627		2203	4300	6503	SO:0001587	stop_gained	126069				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11917627C>T	AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.859C>T	19.37:g.11917627C>T	ENSP00000313443:p.Gln287*						p.Q287*	NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN			3	1144	+			287			C2H2-type 8.		Q3MJ35|Q8NAT8	Nonsense_Mutation	SNP	ENST00000323169.5	37	c.859C>T	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	c	17.30	3.353813	0.61293	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	.	.	.	0.981	-1.96	0.07525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	5.2075	0.15299	0.3255:0.3456:0.3288:0.0	.	.	.	.	X	287;259	.	ENSP00000313443:Q287X	Q	+	1	0	ZNF491	11778627	0.000000	0.05858	0.002000	0.10522	0.044000	0.14063	0.039000	0.13884	-2.170000	0.00776	-0.596000	0.04108	CAA		0.423	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1		NM_152356		8	44	0	0	0	1	0	8	44		
ZNF700	90592	broad.mit.edu	37	19	12059829	12059829	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:12059829G>C	ENST00000254321.5	+	4	1133	c.990G>C	c.(988-990)ggG>ggC	p.G330G	ZNF700_ENST00000482090.1_Silent_p.G312G|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CCCACTCTGGGAAAAAACCGT	0.373																																						uc002msu.2		NaN																	0					0						c.(988-990)GGG>GGC		zinc finger protein 700							75.0	82.0	80.0					19																	12059829		2203	4300	6503	SO:0001819	synonymous_variant	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12059829G>C	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.990G>C	19.37:g.12059829G>C						ZNF700_uc010xme.1_Silent_p.G348G|ZNF763_uc010xmf.1_Intron	p.G330G	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN			4	1116	+			330					B9EGU4	Silent	SNP	ENST00000254321.5	37	c.990G>C	CCDS32915.1																																																																																				0.373	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2		NM_144566		20	57	0	0	0	1	0	20	57		
FBXW9	84261	broad.mit.edu	37	19	12800989	12800989	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:12800989G>C	ENST00000380339.3	-	6	945	c.909C>G	c.(907-909)ctC>ctG	p.L303L	CTD-2659N19.2_ENST00000585742.1_RNA|CTD-2192J16.26_ENST00000593554.1_lincRNA|FBXW9_ENST00000393261.3_Intron|FBXW9_ENST00000587955.1_Silent_p.L293L|FBXW9_ENST00000544494.1_Intron			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	303					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)					cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CCCAGCCCATGAGAGCATCCC	0.612																																						uc010dyx.2		NaN																	0				ovary(1)	1						c.(877-879)CTC>CTG		F-box and WD-40 domain protein 9																																				SO:0001819	synonymous_variant	84261						protein binding	g.chr19:12800989G>C	BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	28136	protein-coding gene	gene with protein product		609074	"""F-box and WD-40 domain protein 9"""			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.909C>G	19.37:g.12800989G>C						FBXW9_uc010xmp.1_Intron|uc002mul.1_3'UTR|FBXW9_uc002mum.1_Intron|FBXW9_uc002mun.1_Intron	p.L293L	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN			6	879	-			303					B3KVP7|Q9BT89	Silent	SNP	ENST00000380339.3	37	c.879C>G																																																																																					0.612	FBXW9-201	KNOWN	basic	protein_coding	protein_coding			NM_032301		15	19	0	0	0	1	0	15	19		
FBXW9	84261	broad.mit.edu	37	19	12807065	12807065	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:12807065G>C	ENST00000380339.3	-	1	367	c.331C>G	c.(331-333)Cgc>Ggc	p.R111G	FBXW9_ENST00000393261.3_Missense_Mutation_p.R111G|FBXW9_ENST00000587955.1_Missense_Mutation_p.R111G|FBXW9_ENST00000544494.1_5'UTR			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	111	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)					cervix(1)|lung(4)|ovary(1)|prostate(1)	7						ACGAGGTCGCGGAGCGCGTGG	0.721																																						uc010dyx.2		NaN																	0				ovary(1)	1						c.(331-333)CGC>GGC		F-box and WD-40 domain protein 9							10.0	14.0	13.0					19																	12807065		1974	4082	6056	SO:0001583	missense	84261						protein binding	g.chr19:12807065G>C	BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	28136	protein-coding gene	gene with protein product		609074	"""F-box and WD-40 domain protein 9"""			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.331C>G	19.37:g.12807065G>C	ENSP00000369696:p.Arg111Gly					FBXW9_uc010xmp.1_RNA|FBXW9_uc002mum.1_Missense_Mutation_p.R111G|FBXW9_uc002mun.1_5'UTR	p.R111G	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN			1	331	-			111			F-box.		B3KVP7|Q9BT89	Missense_Mutation	SNP	ENST00000380339.3	37	c.331C>G		.	.	.	.	.	.	.	.	.	.	G	12.26	1.885891	0.33348	.	.	ENSG00000132004	ENST00000393261;ENST00000380339	T;T	0.53423	0.62;0.62	5.24	5.24	0.73138	.	0.159608	0.42053	D	0.000780	T	0.39253	0.1071	N	0.22421	0.69	0.80722	D	1	B;P	0.51537	0.02;0.946	B;P	0.46510	0.009;0.519	T	0.34477	-0.9827	10	0.66056	D	0.02	-25.7426	11.4385	0.50083	0.0:0.0:0.8199:0.1801	.	111;111	Q5XUX1-2;Q5XUX1-3	.;.	G	111	ENSP00000376945:R111G;ENSP00000369696:R111G	ENSP00000369696:R111G	R	-	1	0	FBXW9	12668065	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	1.443000	0.35057	2.452000	0.82932	0.561000	0.74099	CGC		0.721	FBXW9-201	KNOWN	basic	protein_coding	protein_coding			NM_032301		5	10	0	0	0	1	0	5	10		
HOOK2	29911	broad.mit.edu	37	19	12885536	12885536	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:12885536C>T	ENST00000397668.3	-	3	224	c.151G>A	c.(151-153)Gag>Aag	p.E51K	HOOK2_ENST00000589965.1_5'UTR|HOOK2_ENST00000264827.5_Missense_Mutation_p.E51K	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	51	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						AGCCATGCCTCGTTGAACCAG	0.567																																						uc002muy.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(151-153)GAG>AAG		hook homolog 2 isoform 1							71.0	73.0	72.0					19																	12885536		1977	4150	6127	SO:0001583	missense	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12885536C>T	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.151G>A	19.37:g.12885536C>T	ENSP00000380785:p.Glu51Lys					HOOK2_uc002muz.2_Missense_Mutation_p.E51K|HOOK2_uc002mva.2_Missense_Mutation_p.E51K	p.E51K	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN			3	322	-			51			Sufficient for interaction with microtubules.|Required for localization to the centrosome and induction of aggresome formation.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.151G>A	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731892	0.89390	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.22539	1.95;1.95	5.22	2.95	0.34219	.	0.177166	0.47455	D	0.000226	T	0.26048	0.0635	L	0.58583	1.82	0.35341	D	0.786466	P;P	0.39094	0.607;0.659	B;B	0.43950	0.214;0.437	T	0.31392	-0.9945	10	0.54805	T	0.06	-8.1407	10.1738	0.42927	0.0:0.7853:0.1371:0.0776	.	51;51	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	K	51	ENSP00000380785:E51K;ENSP00000264827:E51K	ENSP00000264827:E51K	E	-	1	0	HOOK2	12746536	1.000000	0.71417	0.712000	0.30502	0.976000	0.68499	4.376000	0.59556	0.626000	0.30322	0.561000	0.74099	GAG		0.567	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1		NM_013312		14	39	0	0	0	1	0	14	39		
PRDX2	7001	broad.mit.edu	37	19	12911749	12911749	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:12911749G>A	ENST00000301522.2	-	3	366	c.238C>T	c.(238-240)Cag>Tag	p.Q80*	PRDX2_ENST00000435703.1_Nonsense_Mutation_p.Q80*|PRDX2_ENST00000334482.5_Nonsense_Mutation_p.Q80*|CTD-2659N19.10_ENST00000585496.1_RNA	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	80	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to oxidative stress (GO:0034599)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of apoptotic process (GO:0042981)|removal of superoxide radicals (GO:0019430)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						TGGGTGAACTGAGAGTCCACC	0.587																																						uc002mvd.2		NaN																	0					0						c.(238-240)CAG>TAG		peroxiredoxin 2 isoform a							43.0	40.0	41.0					19																	12911749		2203	4299	6502	SO:0001587	stop_gained	7001				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity	g.chr19:12911749G>A		CCDS12281.1	19p13.2	2008-07-17			ENSG00000167815	ENSG00000167815			9353	protein-coding gene	gene with protein product	"""thioredoxin-dependent peroxide reductase 1"", ""thiol-specific antioxidant 1"", ""natural killer-enhancing factor B"", ""thioredoxin peroxidase 1"", ""torin"""	600538		TDPX1		7607688	Standard	NM_005809		Approved	PRP, NKEFB, TSA, PRXII, PRX2, MGC4104	uc002mvd.4	P32119	OTTHUMG00000134285	ENST00000301522.2:c.238C>T	19.37:g.12911749G>A	ENSP00000301522:p.Gln80*					PRDX2_uc002mve.1_Nonsense_Mutation_p.Q80*	p.Q80*	NM_005809	NP_005800	P32119	PRDX2_HUMAN			3	388	-			80			Thioredoxin.		A8K0C0|P31945|P32118|P35701|Q6FHG4|Q92763|Q9UC23	Nonsense_Mutation	SNP	ENST00000301522.2	37	c.238C>T	CCDS12281.1	.	.	.	.	.	.	.	.	.	.	G	36	5.955725	0.97145	.	.	ENSG00000167815	ENST00000334482;ENST00000301522;ENST00000435703	.	.	.	4.57	4.57	0.56435	.	0.000000	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-11.01	16.1359	0.81487	0.0:0.0:1.0:0.0	.	.	.	.	X	80	.	ENSP00000301522:Q80X	Q	-	1	0	PRDX2	12772749	1.000000	0.71417	0.995000	0.50966	0.884000	0.51177	9.299000	0.96137	2.096000	0.63516	0.455000	0.32223	CAG		0.587	PRDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258950.2		NM_005809		5	24	0	0	0	1	0	5	24		
PRDX2	7001	broad.mit.edu	37	19	12911751	12911751	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:12911751G>A	ENST00000301522.2	-	3	364	c.236C>T	c.(235-237)tCt>tTt	p.S79F	PRDX2_ENST00000435703.1_Missense_Mutation_p.S79F|PRDX2_ENST00000334482.5_Missense_Mutation_p.S79F|CTD-2659N19.10_ENST00000585496.1_RNA	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	79	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to oxidative stress (GO:0034599)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of apoptotic process (GO:0042981)|removal of superoxide radicals (GO:0019430)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GGTGAACTGAGAGTCCACCGA	0.587																																						uc002mvd.2		NaN																	0					0						c.(235-237)TCT>TTT		peroxiredoxin 2 isoform a							44.0	41.0	42.0					19																	12911751		2203	4299	6502	SO:0001583	missense	7001				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity	g.chr19:12911751G>A		CCDS12281.1	19p13.2	2008-07-17			ENSG00000167815	ENSG00000167815			9353	protein-coding gene	gene with protein product	"""thioredoxin-dependent peroxide reductase 1"", ""thiol-specific antioxidant 1"", ""natural killer-enhancing factor B"", ""thioredoxin peroxidase 1"", ""torin"""	600538		TDPX1		7607688	Standard	NM_005809		Approved	PRP, NKEFB, TSA, PRXII, PRX2, MGC4104	uc002mvd.4	P32119	OTTHUMG00000134285	ENST00000301522.2:c.236C>T	19.37:g.12911751G>A	ENSP00000301522:p.Ser79Phe					PRDX2_uc002mve.1_Missense_Mutation_p.S79F	p.S79F	NM_005809	NP_005800	P32119	PRDX2_HUMAN			3	386	-			79			Thioredoxin.		A8K0C0|P31945|P32118|P35701|Q6FHG4|Q92763|Q9UC23	Missense_Mutation	SNP	ENST00000301522.2	37	c.236C>T	CCDS12281.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789765	0.90367	.	.	ENSG00000167815	ENST00000334482;ENST00000301522;ENST00000435703	T;T;T	0.19105	2.17;2.17;2.17	4.57	4.57	0.56435	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.000000	0.64402	D	0.000016	T	0.66896	0.2836	H	0.99391	4.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.83560	0.0106	10	0.87932	D	0	-2.7135	16.1359	0.81487	0.0:0.0:1.0:0.0	.	79;79	A8K0C0;P32119	.;PRDX2_HUMAN	F	79	ENSP00000334063:S79F;ENSP00000301522:S79F;ENSP00000408905:S79F	ENSP00000301522:S79F	S	-	2	0	PRDX2	12772751	1.000000	0.71417	0.967000	0.41034	0.846000	0.48090	9.299000	0.96137	2.096000	0.63516	0.455000	0.32223	TCT		0.587	PRDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258950.2		NM_005809		6	25	0	0	0	1	0	6	25		
PRDX2	7001	broad.mit.edu	37	19	12911760	12911760	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:12911760G>A	ENST00000301522.2	-	3	355	c.227C>T	c.(226-228)tCg>tTg	p.S76L	PRDX2_ENST00000435703.1_Missense_Mutation_p.S76L|PRDX2_ENST00000334482.5_Missense_Mutation_p.S76L|CTD-2659N19.10_ENST00000585496.1_RNA	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	76	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to oxidative stress (GO:0034599)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of apoptotic process (GO:0042981)|removal of superoxide radicals (GO:0019430)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						AGAGTCCACCGAGACGCCCAG	0.587																																						uc002mvd.2		NaN																	0					0						c.(226-228)TCG>TTG		peroxiredoxin 2 isoform a							44.0	41.0	42.0					19																	12911760		2203	4299	6502	SO:0001583	missense	7001				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity	g.chr19:12911760G>A		CCDS12281.1	19p13.2	2008-07-17			ENSG00000167815	ENSG00000167815			9353	protein-coding gene	gene with protein product	"""thioredoxin-dependent peroxide reductase 1"", ""thiol-specific antioxidant 1"", ""natural killer-enhancing factor B"", ""thioredoxin peroxidase 1"", ""torin"""	600538		TDPX1		7607688	Standard	NM_005809		Approved	PRP, NKEFB, TSA, PRXII, PRX2, MGC4104	uc002mvd.4	P32119	OTTHUMG00000134285	ENST00000301522.2:c.227C>T	19.37:g.12911760G>A	ENSP00000301522:p.Ser76Leu					PRDX2_uc002mve.1_Missense_Mutation_p.S76L	p.S76L	NM_005809	NP_005800	P32119	PRDX2_HUMAN			3	377	-			76			Thioredoxin.		A8K0C0|P31945|P32118|P35701|Q6FHG4|Q92763|Q9UC23	Missense_Mutation	SNP	ENST00000301522.2	37	c.227C>T	CCDS12281.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726828	0.89390	.	.	ENSG00000167815	ENST00000334482;ENST00000301522;ENST00000435703	T;T;T	0.33216	1.42;1.42;1.42	4.57	4.57	0.56435	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.000000	0.64402	D	0.000018	T	0.71970	0.3403	H	0.99900	4.915	0.80722	D	1	B;D	0.58620	0.079;0.983	B;P	0.57057	0.009;0.812	D	0.86868	0.2034	10	0.66056	D	0.02	-7.9071	16.1359	0.81487	0.0:0.0:1.0:0.0	.	76;76	A8K0C0;P32119	.;PRDX2_HUMAN	L	76	ENSP00000334063:S76L;ENSP00000301522:S76L;ENSP00000408905:S76L	ENSP00000301522:S76L	S	-	2	0	PRDX2	12772760	1.000000	0.71417	0.184000	0.23157	0.760000	0.43138	9.299000	0.96137	2.096000	0.63516	0.455000	0.32223	TCG		0.587	PRDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258950.2		NM_005809		7	31	0	0	0	1	0	7	31		
STX10	8677	broad.mit.edu	37	19	13260331	13260331	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:13260331C>G	ENST00000587230.1	-	3	346	c.282G>C	c.(280-282)cgG>cgC	p.R94R	STX10_ENST00000242770.5_Silent_p.R94R|STX10_ENST00000343587.5_Intron|STX10_ENST00000589083.1_Silent_p.R94R|IER2_ENST00000587885.1_5'Flank|IER2_ENST00000292433.3_5'Flank|IER2_ENST00000588173.1_5'Flank	NM_001271609.1	NP_001258538.1	O60499	STX10_HUMAN	syntaxin 10	94					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			CCTCTCGCATCCGCTCCACGA	0.517																																						uc010xnb.1		NaN																	0					0						c.(280-282)CGG>CGC		syntaxin 10							73.0	76.0	75.0					19																	13260331		2203	4300	6503	SO:0001819	synonymous_variant	8677				Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity	g.chr19:13260331C>G	AF035531	CCDS32922.1, CCDS62569.1, CCDS62570.1, CCDS62571.1	19p13.13	2008-07-22				ENSG00000104915			11428	protein-coding gene	gene with protein product		603765				9446797	Standard	NM_003765		Approved	hsyn10, SYN10	uc021upq.2	O60499		ENST00000587230.1:c.282G>C	19.37:g.13260331C>G						STX10_uc002mwn.2_5'UTR|STX10_uc002mwo.2_5'UTR|STX10_uc010xna.1_Intron|STX10_uc010xnc.1_Intron|IER2_uc002mwr.2_5'Flank	p.R94R	NM_003765	NP_003756	O60499	STX10_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)		3	282	-			94			Cytoplasmic (Potential).		A6NC41|Q6IAP4|Q96AE8	Silent	SNP	ENST00000587230.1	37	c.282G>C	CCDS32922.1																																																																																				0.517	STX10-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452918.1		NM_003765		32	91	0	0	0	1	0	32	91		
CACNA1A	773	broad.mit.edu	37	19	13476255	13476255	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:13476255C>T	ENST00000360228.5	-	5	659	c.660G>A	c.(658-660)atG>atA	p.M220I	CACNA1A_ENST00000573710.2_Missense_Mutation_p.M220I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	220					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TCATCGCCTTCATGATCGACT	0.478																																						uc010dze.2		NaN																	0				large_intestine(2)	2						c.(658-660)ATG>ATA		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						57.0	57.0	57.0					19																	13476255		1920	4133	6053	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13476255C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.660G>A	19.37:g.13476255C>T	ENSP00000353362:p.Met220Ile					CACNA1A_uc002mwy.3_Missense_Mutation_p.M220I	p.M220I	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		5	896	-			220			Cytoplasmic (Potential).|I.		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.660G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748388	0.69533	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98105	-4.72	5.55	5.55	0.83447	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97219	0.9091	N	0.17474	0.49	0.58432	D	0.999995	D;D	0.59357	0.969;0.985	D;D	0.72338	0.968;0.977	D	0.98181	1.0457	10	0.49607	T	0.09	.	18.2896	0.90124	0.0:1.0:0.0:0.0	.	220;220	O00555;Q9NS88	CAC1A_HUMAN;.	I	220	ENSP00000353362:M220I	ENSP00000317661:M220I	M	-	3	0	CACNA1A	13337255	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.585000	0.82584	2.603000	0.88011	0.655000	0.94253	ATG		0.478	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2		NM_000068		16	50	0	0	0	1	0	16	50		
CCDC130	81576	broad.mit.edu	37	19	13869691	13869691	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:13869691G>T	ENST00000586600.1	+	8	770	c.267G>T	c.(265-267)atG>atT	p.M89I	CCDC130_ENST00000221554.8_Missense_Mutation_p.M89I			P13994	CC130_HUMAN	coiled-coil domain containing 130	89					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			GGTTCCGGATGAAATGCCACC	0.632																																						uc002mxb.1		NaN																	0					0						c.(265-267)ATG>ATT		coiled-coil domain containing 130							45.0	35.0	38.0					19																	13869691		2203	4300	6503	SO:0001583	missense	81576				response to virus		protein binding	g.chr19:13869691G>T	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.267G>T	19.37:g.13869691G>T	ENSP00000465776:p.Met89Ile					CCDC130_uc010xnf.1_Missense_Mutation_p.M89I|CCDC130_uc002mxc.1_Missense_Mutation_p.M89I|CCDC130_uc002mxd.1_5'UTR|CCDC130_uc010dzf.1_Intron	p.M89I	NM_030818	NP_110445	P13994	CC130_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)		8	770	+			89					Q9BQ72	Missense_Mutation	SNP	ENST00000586600.1	37	c.267G>T	CCDS12296.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317500	0.81469	.	.	ENSG00000104957	ENST00000540216;ENST00000221554	T	0.24538	1.85	5.06	5.06	0.68205	.	0.038109	0.85682	D	0.000000	T	0.36635	0.0974	L	0.35288	1.05	0.80722	D	1	P;D	0.76494	0.955;0.999	P;D	0.73380	0.843;0.98	T	0.02519	-1.1147	10	0.12430	T	0.62	-43.6633	15.9545	0.79876	0.0:0.0:1.0:0.0	.	89;89	B7Z1U2;P13994	.;CC130_HUMAN	I	89	ENSP00000221554:M89I	ENSP00000221554:M89I	M	+	3	0	CCDC130	13730691	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.588000	0.90813	2.645000	0.89757	0.561000	0.74099	ATG		0.632	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2		NM_030818		6	25	1	0	1.26484e-09	1	1.3194e-09	6	25		
CYP4F22	126410	broad.mit.edu	37	19	15662126	15662126	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:15662126C>T	ENST00000269703.3	+	14	1639	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F	CYP4F22_ENST00000601005.2_Silent_p.F480F	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	480						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GACAGAGCTTCGCCATGGCCG	0.617																																						uc002nbh.3		NaN																	0				ovary(1)|pancreas(1)	2						c.(1438-1440)TTC>TTT		cytochrome P450, family 4, subfamily F,							49.0	36.0	41.0					19																	15662126		2203	4300	6503	SO:0001819	synonymous_variant	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15662126C>T		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.1440C>T	19.37:g.15662126C>T							p.F480F	NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN			14	1607	+			480					Q8N8H4	Silent	SNP	ENST00000269703.3	37	c.1440C>T	CCDS12331.1																																																																																				0.617	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2		NM_173483		8	21	0	0	0	1	0	8	21		
CYP4F2	8529	broad.mit.edu	37	19	16000358	16000358	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:16000358C>T	ENST00000221700.6	-	7	888	c.793G>A	c.(793-795)Gac>Aac	p.D265N	CYP4F2_ENST00000011989.7_Missense_Mutation_p.D116N	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											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						TCTGTGAAGTCGTGCACCAGG	0.547																																						uc002nbs.1		NaN																	0				ovary(1)|skin(1)	2						c.(793-795)GAC>AAC		cytochrome P450, family 4, subfamily F,							101.0	98.0	99.0					19																	16000358		2203	4300	6503	SO:0001583	missense	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.chr19:16000358C>T	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.793G>A	19.37:g.16000358C>T	ENSP00000221700:p.Asp265Asn					CYP4F2_uc010xot.1_Missense_Mutation_p.D116N|CYP4F2_uc010xou.1_Missense_Mutation_p.D116N	p.D265N	NM_001082	NP_001073	P78329	CP4F2_HUMAN			7	843	-			265						Missense_Mutation	SNP	ENST00000221700.6	37	c.793G>A	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	11.24	1.580640	0.28180	.	.	ENSG00000186115	ENST00000221700;ENST00000392846;ENST00000011989	T;T	0.69926	-0.44;-0.44	2.72	-2.81	0.05805	.	1.847300	0.04354	U	0.356202	T	0.45756	0.1358	N	0.17278	0.47	0.18873	N	0.999986	B;B	0.12630	0.006;0.005	B;B	0.15870	0.006;0.014	T	0.20042	-1.0287	10	0.30854	T	0.27	.	4.4015	0.11388	0.0:0.441:0.1741:0.3848	.	116;265	B4DV75;P78329	.;CP4F2_HUMAN	N	265;116;116	ENSP00000221700:D265N;ENSP00000011989:D116N	ENSP00000011989:D116N	D	-	1	0	CYP4F2	15861358	0.000000	0.05858	0.797000	0.32132	0.895000	0.52256	-2.922000	0.00693	-0.280000	0.09154	0.305000	0.20034	GAC		0.547	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3		NM_001082		68	156	0	0	0	1	0	68	156		
MAST3	23031	broad.mit.edu	37	19	18239752	18239752	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:18239752G>C	ENST00000262811.6	+	12	1127	c.1127G>C	c.(1126-1128)gGa>gCa	p.G376A	MAST3_ENST00000608648.1_3'UTR	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	376	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						ATTAGCAACGGAGCCTATGGG	0.597																																						uc002nhz.3		NaN																	0				large_intestine(2)|ovary(2)|stomach(1)	5						c.(1126-1128)GGA>GCA		microtubule associated serine/threonine kinase							83.0	87.0	86.0					19																	18239752		2029	4190	6219	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18239752G>C	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.1127G>C	19.37:g.18239752G>C	ENSP00000262811:p.Gly376Ala						p.G376A	NM_015016	NP_055831	O60307	MAST3_HUMAN			12	1127	+			376			ATP (By similarity).|Protein kinase.		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.1127G>C	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907247	0.92107	.	.	ENSG00000099308	ENST00000262811	D	0.85258	-1.96	5.27	5.27	0.74061	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95089	0.8409	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96576	0.9427	10	0.87932	D	0	-39.4394	17.8957	0.88887	0.0:0.0:1.0:0.0	.	376	O60307	MAST3_HUMAN	A	376	ENSP00000262811:G376A	ENSP00000262811:G376A	G	+	2	0	MAST3	18100752	1.000000	0.71417	0.990000	0.47175	0.982000	0.71751	9.729000	0.98795	2.460000	0.83146	0.561000	0.74099	GGA		0.597	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2		XM_038150		18	79	0	0	0	1	0	18	79		
CRTC1	23373	broad.mit.edu	37	19	18876304	18876304	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:18876304C>T	ENST00000321949.8	+	9	1003	c.977C>T	c.(976-978)tCg>tTg	p.S326L	CRTC1_ENST00000338797.6_Missense_Mutation_p.S342L|CRTC1_ENST00000594658.1_Missense_Mutation_p.S285L|CRTC1_ENST00000601916.1_Missense_Mutation_p.S251L	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CAGCAGGCATCGCCCACCCTG	0.662																																						uc002nkb.3		NaN																CRTC1/MAML2(516)	0				salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1)	519						c.(976-978)TCG>TTG		mucoepidermoid carcinoma translocated 1 isoform							70.0	64.0	66.0					19																	18876304		2203	4300	6503	SO:0001583	missense	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18876304C>T	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.977C>T	19.37:g.18876304C>T	ENSP00000323332:p.Ser326Leu					CRTC1_uc010ebv.2_Missense_Mutation_p.S342L|CRTC1_uc010ebw.2_Missense_Mutation_p.S191L|CRTC1_uc002nkc.3_Missense_Mutation_p.S191L	p.S326L	NM_015321	NP_056136	Q6UUV9	CRTC1_HUMAN			9	1065	+			326			Ser-rich.			Missense_Mutation	SNP	ENST00000321949.8	37	c.977C>T	CCDS32963.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612425	0.87258	.	.	ENSG00000105662	ENST00000262813;ENST00000338797;ENST00000321949	T;T	0.14022	2.54;2.55	4.38	4.38	0.52667	.	1.885270	0.03099	N	0.160870	T	0.26268	0.0641	L	0.50333	1.59	0.53005	D	0.999966	D;D;P	0.59357	0.964;0.985;0.776	P;P;B	0.48400	0.573;0.576;0.206	T	0.09314	-1.0680	10	0.40728	T	0.16	-7.0662	15.8646	0.79055	0.0:1.0:0.0:0.0	.	326;342;326	Q6UUV9-3;Q6UUV9-2;Q6UUV9	.;.;CRTC1_HUMAN	L	326;342;326	ENSP00000345001:S342L;ENSP00000323332:S326L	ENSP00000262813:S326L	S	+	2	0	CRTC1	18737304	1.000000	0.71417	0.922000	0.36590	0.798000	0.45092	6.141000	0.71744	2.159000	0.67721	0.561000	0.74099	TCG		0.662	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3		NM_025021		37	115	0	0	0	1	0	37	115		
COMP	1311	broad.mit.edu	37	19	18896558	18896558	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:18896558G>A	ENST00000222271.2	-	14	1637	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F	COMP_ENST00000542601.2_Silent_p.F498F|COMP_ENST00000425807.1_Silent_p.F478F	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	531	Mediates cell survival and induction of the IAP family of survival proteins.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GGAAGGCCCTGAAGTCGGTGA	0.632																																						uc002nke.2		NaN																	0					0						c.(1591-1593)TTC>TTT		cartilage oligomeric matrix protein precursor							76.0	65.0	69.0					19																	18896558		2203	4300	6503	SO:0001819	synonymous_variant	1311				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	g.chr19:18896558G>A	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1593C>T	19.37:g.18896558G>A						COMP_uc002nkd.2_Silent_p.F498F|COMP_uc010xqj.1_Silent_p.F478F	p.F531F	NM_000095	NP_000086	P49747	COMP_HUMAN			14	1629	-			531			Mediates cell survival and induction of the IAP family of survival proteins.		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Silent	SNP	ENST00000222271.2	37	c.1593C>T	CCDS12385.1																																																																																				0.632	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1		NM_000095		28	65	0	0	0	1	0	28	65		
UPF1	5976	broad.mit.edu	37	19	18965463	18965463	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:18965463G>A	ENST00000599848.1	+	9	1452	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	UPF1_ENST00000262803.5_Missense_Mutation_p.E404K			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	415	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TGCACCTGTGGAGGTGACTCA	0.547																																						uc002nkg.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1243-1245)GAG>AAG		regulator of nonsense transcripts 1							204.0	193.0	197.0					19																	18965463		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding	g.chr19:18965463G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.1243G>A	19.37:g.18965463G>A	ENSP00000470142:p.Glu415Lys					UPF1_uc002nkf.2_Missense_Mutation_p.E404K	p.E415K	NM_002911	NP_002902	Q92900	RENT1_HUMAN			9	1518	+			415			Sufficient for interaction with RENT2.		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.1243G>A		.	.	.	.	.	.	.	.	.	.	G	17.92	3.506318	0.64410	.	.	ENSG00000005007	ENST00000262803	D	0.90004	-2.6	5.02	3.98	0.46160	.	0.000000	0.85682	D	0.000000	D	0.85894	0.5803	L	0.55103	1.725	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.17098	0.008;0.017	T	0.82074	-0.0637	10	0.48119	T	0.1	-43.6075	12.3458	0.55119	0.0829:0.0:0.9171:0.0	.	415;404	Q92900;Q92900-2	RENT1_HUMAN;.	K	404	ENSP00000262803:E404K	ENSP00000262803:E404K	E	+	1	0	UPF1	18826463	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.429000	0.97481	1.107000	0.41642	0.655000	0.94253	GAG		0.547	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1		NM_002911		69	202	0	0	0	1	0	69	202		
ZNF253	56242	broad.mit.edu	37	19	20003061	20003061	+	Silent	SNP	A	A	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:20003061A>T	ENST00000589717.1	+	4	1097	c.1005A>T	c.(1003-1005)acA>acT	p.T335T	AC011477.1_ENST00000578823.1_RNA|ZNF253_ENST00000355650.4_Silent_p.T259T|CTC-559E9.8_ENST00000585571.1_RNA	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	335				Missing (in Ref. 1; AAC26844). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAATTCATACAGGAGAGAAAC	0.383																																						uc002noj.2		NaN																	0					0						c.(1003-1005)ACA>ACT		zinc finger protein 253							41.0	45.0	44.0					19																	20003061		2149	4278	6427	SO:0001819	synonymous_variant	56242				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20003061A>T	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.1005A>T	19.37:g.20003061A>T						ZNF253_uc002nok.2_Silent_p.T259T|ZNF253_uc002nol.2_RNA	p.T335T	NM_021047	NP_066385	O75346	ZN253_HUMAN			4	1097	+			335	Missing (in Ref. 1; AAC26844).				A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Silent	SNP	ENST00000589717.1	37	c.1005A>T	CCDS42532.1																																																																																				0.383	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1		NM_021047		5	48	0	0	0	1	0	5	48		
ZNF429	353088	broad.mit.edu	37	19	21720870	21720870	+	Missense_Mutation	SNP	G	G	A	rs201032310	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:21720870G>A	ENST00000358491.4	+	4	2223	c.2015G>A	c.(2014-2016)cGt>cAt	p.R672H	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	672					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)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						gatcgagaccgtcctggctaa	0.478													a|||	6	0.00119808	0.0008	0.0014	5008	,	,		11137	0.001		0.001	False		,,,				2504	0.002					uc002nqd.1		NaN																	0				ovary(2)	2						c.(2014-2016)CGT>CAT		zinc finger protein 429							15.0	14.0	14.0					19																	21720870		1842	4075	5917	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21720870G>A	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.2015G>A	19.37:g.21720870G>A	ENSP00000351280:p.Arg672His					ZNF429_uc010ecu.1_Intron	p.R672H	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN			4	2152	+			672					A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.2015G>A	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	9.292	1.050748	0.19827	.	.	ENSG00000197013	ENST00000358491	T	0.43294	0.95	0.717	-0.497	0.12023	.	.	.	.	.	T	0.09158	0.0226	N	0.00521	-1.4	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.02654	T	1	.	3.2862	0.06932	0.6136:0.0:0.1893:0.1972	.	672	Q86V71	ZN429_HUMAN	H	672	ENSP00000351280:R672H	ENSP00000351280:R672H	R	+	2	0	ZNF429	21512710	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.999000	0.01467	-1.304000	0.02329	-1.798000	0.00622	CGT		0.478	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1		NM_001001415		4	50	0	0	0	1	0	4	50		
GRAMD1A	57655	broad.mit.edu	37	19	35517044	35517044	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:35517044G>A	ENST00000317991.5	+	20	2366	c.2174G>A	c.(2173-2175)tGa>tAa	p.*725*	GRAMD1A_ENST00000504615.2_Silent_p.*487*|GRAMD1A_ENST00000599564.1_Silent_p.*808*|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000411896.2_Silent_p.*714*	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	0						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGCTTTTCCTGAGGACCCCGG	0.637																																						uc010xse.1		NaN																	0					0						c.(2173-2175)TGA>TAA		GRAM domain containing 1A isoform 1							53.0	61.0	59.0					19																	35517044		2007	4161	6168	SO:0001819	synonymous_variant	57655					integral to membrane		g.chr19:35517044G>A	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.2174G>A	19.37:g.35517044G>A						GRAMD1A_uc002nxk.2_Silent_p.*714*|GRAMD1A_uc002nxl.2_Silent_p.*487*|GRAMD1A_uc010xsf.1_Silent_p.*726*|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_Silent_p.*336*	p.*725*	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		20	2311	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		725					A6NKY7|Q8NC77|Q9P1Z5	Silent	SNP	ENST00000317991.5	37	c.2174G>A	CCDS42546.1																																																																																				0.637	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1		NM_020895		19	62	0	0	0	1	0	19	62		
LGI4	163175	broad.mit.edu	37	19	35616111	35616111	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:35616111C>G	ENST00000310123.3	-	9	2119	c.1600G>C	c.(1600-1602)Gac>Cac	p.D534H	LGI4_ENST00000392225.3_3'UTR|LGI4_ENST00000493050.1_5'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	534					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GCACTGAGGTCGATCTCGTGA	0.647																																						uc002nxx.2		NaN																	0				pancreas(1)	1						c.(1600-1602)GAC>CAC		leucine-rich repeat LGI family, member 4							50.0	49.0	49.0					19																	35616111		2203	4300	6503	SO:0001583	missense	163175					extracellular region		g.chr19:35616111C>G	AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.1600G>C	19.37:g.35616111C>G	ENSP00000312273:p.Asp534His					LGI4_uc002nxy.1_Missense_Mutation_p.D362H|LGI4_uc002nxz.1_3'UTR	p.D534H	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)		9	2194	-	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		534					B2RN53|B9EGS7|Q5M8T1	Missense_Mutation	SNP	ENST00000310123.3	37	c.1600G>C	CCDS12444.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750053	0.69533	.	.	ENSG00000153902	ENST00000310123;ENST00000437421	T	0.78003	-1.14	5.15	5.15	0.70609	.	0.077064	0.53938	D	0.000056	D	0.87249	0.6130	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88661	0.3189	10	0.87932	D	0	.	16.1241	0.81380	0.0:1.0:0.0:0.0	.	534	Q8N135	LGI4_HUMAN	H	534;535	ENSP00000312273:D534H	ENSP00000312273:D534H	D	-	1	0	LGI4	40307951	1.000000	0.71417	0.988000	0.46212	0.258000	0.26162	5.612000	0.67681	2.404000	0.81709	0.484000	0.47621	GAC		0.647	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103963.1				18	58	0	0	0	1	0	18	58		
RBM42	79171	broad.mit.edu	37	19	36120478	36120478	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:36120478C>T	ENST00000262633.4	+	2	290	c.185C>T	c.(184-186)gCg>gTg	p.A62V	RBM42_ENST00000586618.1_Missense_Mutation_p.A62V|RBM42_ENST00000360475.4_Missense_Mutation_p.A62V|RBM42_ENST00000592202.1_Missense_Mutation_p.A62V|RBM42_ENST00000588161.1_Missense_Mutation_p.A62V|RBM42_ENST00000589559.1_Missense_Mutation_p.A62V|RBM42_ENST00000589871.1_Missense_Mutation_p.A62V	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	62						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCTGTGCCTGCGGTGCCCACT	0.587																																						uc002oan.2		NaN																	0					0						c.(184-186)GCG>GTG		RNA binding motif protein 42							86.0	82.0	83.0					19																	36120478		2203	4300	6503	SO:0001583	missense	79171					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:36120478C>T	BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"""RNA binding motif (RRM) containing"""	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.185C>T	19.37:g.36120478C>T	ENSP00000262633:p.Ala62Val					RBM42_uc010xsx.1_Missense_Mutation_p.A62V|RBM42_uc010eef.2_Missense_Mutation_p.A62V|RBM42_uc002oao.2_Missense_Mutation_p.A62V|RBM42_uc002oap.2_Missense_Mutation_p.A62V|RBM42_uc002oaq.2_Missense_Mutation_p.A62V|RBM42_uc010eeg.2_Missense_Mutation_p.A62V	p.A62V	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	261	+	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		62					O00320|Q8N5R7|Q9BU66	Missense_Mutation	SNP	ENST00000262633.4	37	c.185C>T	CCDS12468.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117082	0.37339	.	.	ENSG00000126254	ENST00000262633;ENST00000360475	T;T	0.05786	3.42;3.39	4.72	2.55	0.30701	.	0.559044	0.17288	N	0.179747	T	0.05823	0.0152	N	0.24115	0.695	0.31178	N	0.702384	B;B;B;B;D	0.61697	0.104;0.296;0.164;0.164;0.99	B;B;B;B;P	0.45881	0.024;0.026;0.043;0.043;0.496	T	0.17107	-1.0380	10	0.72032	D	0.01	-0.4644	7.8435	0.29412	0.0:0.7452:0.164:0.0908	.	62;62;62;62;62	B4DWT0;Q9BTD8-4;Q9BTD8-3;Q9BTD8-2;Q9BTD8	.;.;.;.;RBM42_HUMAN	V	62	ENSP00000262633:A62V;ENSP00000353663:A62V	ENSP00000262633:A62V	A	+	2	0	RBM42	40812318	0.822000	0.29219	0.716000	0.30569	0.127000	0.20565	2.216000	0.42871	0.570000	0.29347	-0.136000	0.14681	GCG		0.587	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2		NM_024321		39	125	0	0	0	1	0	39	125		
KMT2B	9757	broad.mit.edu	37	19	36221766	36221766	+	Nonsense_Mutation	SNP	C	C	G	rs200571590		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:36221766C>G	ENST00000222270.7	+	26	5435	c.5435C>G	c.(5434-5436)tCa>tGa	p.S1812*	KMT2B_ENST00000420124.1_Nonsense_Mutation_p.S1812*|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1812					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GCCCCTTCCTCAGGTGTGGCT	0.572																																						uc010eei.2		NaN																	0				central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(5434-5436)TCA>TGA		myeloid/lymphoid or mixed-lineage leukemia 4							33.0	39.0	37.0					19																	36221766		2010	4174	6184	SO:0001587	stop_gained	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36221766C>G	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5435C>G	19.37:g.36221766C>G	ENSP00000222270:p.Ser1812*						p.S1812*	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		27	5435	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		1812					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Nonsense_Mutation	SNP	ENST00000222270.7	37	c.5435C>G	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	44	10.989094	0.99499	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	.	.	.	5.97	2.69	0.31865	.	0.450120	0.16546	N	0.209705	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	9.833	0.40952	0.0:0.7746:0.0:0.2254	.	.	.	.	X	1812	.	ENSP00000222270:S1812X	S	+	2	0	AD000671.1	40913606	0.899000	0.30636	0.249000	0.24280	0.982000	0.71751	2.544000	0.45761	0.419000	0.25927	0.655000	0.94253	TCA		0.572	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_014727		9	12	0	0	0	1	0	9	12		
ZNF529	57711	broad.mit.edu	37	19	37038408	37038408	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:37038408G>A	ENST00000591340.1	-	5	1210	c.1052C>T	c.(1051-1053)tCa>tTa	p.S351L	ZNF529_ENST00000334116.7_Missense_Mutation_p.S246L	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	351					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	Esophageal squamous(110;0.198)					AATGAGCTGTGAACTAATTCT	0.398																																						uc002oeh.3		NaN																	0				breast(1)	1						c.(1051-1053)TCA>TTA		zinc finger protein 529 isoform a							52.0	56.0	55.0					19																	37038408		2190	4294	6484	SO:0001583	missense	57711				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37038408G>A	AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"""Zinc fingers, C2H2-type"", ""-"""	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714	ENST00000591340.1:c.1052C>T	19.37:g.37038408G>A	ENSP00000465578:p.Ser351Leu					ZNF529_uc010xth.1_Missense_Mutation_p.S351L|ZNF529_uc010xti.1_Missense_Mutation_p.S333L|ZNF529_uc002oeg.3_Missense_Mutation_p.S246L	p.S351L	NM_020951	NP_066002	Q6P280	ZN529_HUMAN			5	1254	-	Esophageal squamous(110;0.198)		318			C2H2-type 5.		K7EKE1|Q9H731|Q9HCF7	Missense_Mutation	SNP	ENST00000591340.1	37	c.1052C>T	CCDS54256.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484299	0.44147	.	.	ENSG00000186020	ENST00000334116	.	.	.	3.02	1.39	0.22231	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30230	0.0758	M	0.73430	2.235	0.09310	N	1	P;P	0.38020	0.615;0.51	B;B	0.29077	0.098;0.067	T	0.21042	-1.0257	8	0.48119	T	0.1	.	4.2408	0.10647	0.1212:0.0:0.5235:0.3553	.	246;318	Q6P280-2;Q6P280	.;ZN529_HUMAN	L	351	.	ENSP00000334695:S351L	S	-	2	0	ZNF529	41730248	0.000000	0.05858	0.840000	0.33206	0.996000	0.88848	-0.206000	0.09398	0.097000	0.17492	0.591000	0.81541	TCA		0.398	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452730.1		NM_020951		19	46	0	0	0	1	0	19	46		
ZNF461	92283	broad.mit.edu	37	19	37130859	37130859	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:37130859C>G	ENST00000588268.1	-	6	615	c.388G>C	c.(388-390)Gaa>Caa	p.E130Q	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Missense_Mutation_p.E107Q	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	130					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)			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTTTTAAATTCTTCCATGTTA	0.403																																						uc002oem.2		NaN																	0					0						c.(388-390)GAA>CAA		gonadotropin inducible transcription repressor							138.0	131.0	133.0					19																	37130859		1834	4084	5918	SO:0001583	missense	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37130859C>G	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.388G>C	19.37:g.37130859C>G	ENSP00000467931:p.Glu130Gln					ZNF461_uc002oen.2_Missense_Mutation_p.E99Q|ZNF461_uc010xtj.1_Missense_Mutation_p.E107Q	p.E130Q	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	616	-	Esophageal squamous(110;0.198)		130					A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	c.388G>C	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	C	0.607	-0.826539	0.02734	.	.	ENSG00000197808	ENST00000396893;ENST00000360357;ENST00000540605;ENST00000396892	T	0.05855	3.38	3.31	1.0	0.19881	.	.	.	.	.	T	0.02929	0.0087	N	0.04508	-0.205	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	0.43097	-0.9412	9	0.45353	T	0.12	.	5.4723	0.16676	0.0:0.2414:0.5399:0.2187	.	107;52;130	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	Q	130;107;3;65	ENSP00000353515:E107Q	ENSP00000353515:E107Q	E	-	1	0	ZNF461	41822699	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.122000	0.10627	0.348000	0.23949	-0.165000	0.13383	GAA		0.403	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1		NM_153257		48	108	0	0	0	1	0	48	108		
ZNF567	163081	broad.mit.edu	37	19	37210440	37210440	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:37210440C>A	ENST00000536254.2	+	6	1036	c.814C>A	c.(814-816)Cag>Aag	p.Q272K	ZNF567_ENST00000360729.4_Missense_Mutation_p.Q241K|ZNF567_ENST00000392163.2_Missense_Mutation_p.Q241K|ZNF567_ENST00000588311.1_Missense_Mutation_p.Q241K|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000585696.1_Missense_Mutation_p.Q241K			Q8N184	ZN567_HUMAN	zinc finger protein 567	272					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GATTCTGCATCAGGGAATTCA	0.333																																						uc010xtl.1		NaN																	0					0						c.(814-816)CAG>AAG		zinc finger protein 567							39.0	41.0	41.0					19																	37210440		2203	4298	6501	SO:0001583	missense	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37210440C>A	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.814C>A	19.37:g.37210440C>A	ENSP00000441838:p.Gln272Lys					ZNF567_uc002oeo.1_Missense_Mutation_p.Q272K|ZNF567_uc010xtk.1_Missense_Mutation_p.Q272K|ZNF567_uc002oep.3_Missense_Mutation_p.Q241K|ZNF567_uc002oeq.1_Missense_Mutation_p.Q241K	p.Q272K	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	1036	+	Esophageal squamous(110;0.198)		272			C2H2-type 2.		B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37	c.814C>A		.	.	.	.	.	.	.	.	.	.	C	9.387	1.074512	0.20227	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.16196	2.36;2.36;2.36	3.89	3.89	0.44902	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40908	D	0.000997	T	0.11239	0.0274	N	0.13371	0.34	0.80722	D	1	B;B	0.21225	0.053;0.043	B;B	0.14578	0.011;0.006	T	0.10359	-1.0633	10	0.59425	D	0.04	.	14.1546	0.65410	0.0:1.0:0.0:0.0	.	272;241	Q8N184;F8WEL6	ZN567_HUMAN;.	K	272;272;241;271;241	ENSP00000441838:Q272K;ENSP00000353957:Q241K;ENSP00000376003:Q241K	ENSP00000353957:Q241K	Q	+	1	0	ZNF567	41902280	0.682000	0.27624	1.000000	0.80357	0.978000	0.69477	0.345000	0.19979	2.458000	0.83093	0.462000	0.41574	CAG		0.333	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1		NM_152603		6	22	1	0	4.096e-09	1	4.26478e-09	6	22		
ZNF568	374900	broad.mit.edu	37	19	37441842	37441842	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:37441842C>G	ENST00000333987.7	+	7	2293	c.1787C>G	c.(1786-1788)tCt>tGt	p.S596C	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000415168.1_Missense_Mutation_p.S532C	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	596					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAGCCTTTTCTCAGTGCTCA	0.403																																						uc002ofc.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1786-1788)TCT>TGT		zinc finger protein 568							78.0	91.0	87.0					19																	37441842		2193	4296	6489	SO:0001583	missense	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37441842C>G	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.1787C>G	19.37:g.37441842C>G	ENSP00000334685:p.Ser596Cys					ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.S520C|ZNF568_uc010efe.2_Missense_Mutation_p.S520C|ZNF568_uc010eff.1_Intron	p.S596C	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		7	2302	+	Esophageal squamous(110;0.183)		596			C2H2-type 14.		B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	c.1787C>G	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066278	0.36470	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.08102	3.13;3.13	4.13	-1.16	0.09678	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34802	N	0.003669	T	0.18635	0.0447	L	0.58810	1.83	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.02138	-1.1207	10	0.62326	D	0.03	.	8.8303	0.35080	0.0:0.4837:0.423:0.0933	.	596	Q3ZCX4	ZN568_HUMAN	C	596;532	ENSP00000334685:S596C;ENSP00000394514:S532C	ENSP00000334685:S596C	S	+	2	0	ZNF568	42133682	0.000000	0.05858	0.098000	0.21074	0.997000	0.91878	-3.168000	0.00574	0.111000	0.17947	0.591000	0.81541	TCT		0.403	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2		NM_198539		19	72	0	0	0	1	0	19	72		
ZNF607	84775	broad.mit.edu	37	19	38200664	38200664	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:38200664G>A	ENST00000355202.4	-	3	664	c.69C>T	c.(67-69)ctC>ctT	p.L23L	ZNF607_ENST00000395835.3_Silent_p.L23L|CTD-2528L19.4_ENST00000586606.2_Silent_p.L23L	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	23	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GAACCAGGCTGAGATATTCCC	0.418																																						uc002ohc.1		NaN																	0					0						c.(67-69)CTC>CTT		zinc finger protein 607							118.0	99.0	106.0					19																	38200664		2203	4300	6503	SO:0001819	synonymous_variant	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38200664G>A	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.69C>T	19.37:g.38200664G>A						ZNF607_uc002ohb.1_Silent_p.L23L	p.L23L	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		3	665	-			23			KRAB.		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Silent	SNP	ENST00000355202.4	37	c.69C>T	CCDS33006.1																																																																																				0.418	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2		NM_032689		18	59	0	0	0	1	0	18	59		
SIPA1L3	23094	broad.mit.edu	37	19	38610244	38610244	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:38610244G>C	ENST00000222345.6	+	9	3099	c.2590G>C	c.(2590-2592)Gag>Cag	p.E864Q		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	864					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCTGGCGCTGAGCAGCACAG	0.557																																						uc002ohk.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2590-2592)GAG>CAG		signal-induced proliferation-associated 1 like							68.0	73.0	71.0					19																	38610244		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38610244G>C	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2590G>C	19.37:g.38610244G>C	ENSP00000222345:p.Glu864Gln						p.E864Q	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		9	3099	+			864					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.2590G>C	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262227	0.80358	.	.	ENSG00000105738	ENST00000222345	T	0.57752	0.38	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.73133	0.3548	M	0.75615	2.305	0.58432	D	0.999998	D	0.69078	0.997	D	0.68765	0.96	T	0.75013	-0.3467	10	0.72032	D	0.01	-45.1072	18.7237	0.91705	0.0:0.0:1.0:0.0	.	864	O60292	SI1L3_HUMAN	Q	864	ENSP00000222345:E864Q	ENSP00000222345:E864Q	E	+	1	0	SIPA1L3	43302084	1.000000	0.71417	0.960000	0.40013	0.507000	0.33981	6.659000	0.74412	2.725000	0.93324	0.655000	0.94253	GAG		0.557	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2		XM_032278		33	76	0	0	0	1	0	33	76		
YIF1B	90522	broad.mit.edu	37	19	38799901	38799901	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:38799901C>A	ENST00000339413.6	-	3	410	c.365G>T	c.(364-366)aGa>aTa	p.R122I	YIF1B_ENST00000591755.1_Missense_Mutation_p.R119I|YIF1B_ENST00000587361.1_5'UTR|YIF1B_ENST00000329420.8_Missense_Mutation_p.R107I|YIF1B_ENST00000592246.1_Intron|YIF1B_ENST00000392124.3_Missense_Mutation_p.R91I|YIF1B_ENST00000592694.1_Missense_Mutation_p.R91I|YIF1B_ENST00000337679.8_Missense_Mutation_p.R119I|YIF1B_ENST00000591784.1_Missense_Mutation_p.R91I	NM_001039672.2|NM_001039673.2	NP_001034761.1|NP_001034762.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	122						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCCAGCTTTCTGCCCACATA	0.597																																						uc002ohz.2		NaN																	0					0						c.(364-366)AGA>ATA		Yip1 interacting factor homolog B isoform 5							183.0	183.0	183.0					19																	38799901		2203	4300	6503	SO:0001583	missense	90522					integral to membrane		g.chr19:38799901C>A	AL833382	CCDS12512.1, CCDS33010.1, CCDS46066.1, CCDS46067.1	19q13.2	2008-02-05							30511	protein-coding gene	gene with protein product						12975309	Standard	NM_001039672		Approved	FinGER8	uc002ohz.2	Q5BJH7		ENST00000339413.6:c.365G>T	19.37:g.38799901C>A	ENSP00000343435:p.Arg122Ile					YIF1B_uc002ohw.2_Missense_Mutation_p.R91I|YIF1B_uc002ohx.2_Missense_Mutation_p.R107I|YIF1B_uc010xtx.1_Missense_Mutation_p.R105I|YIF1B_uc010xty.1_Missense_Mutation_p.R91I|YIF1B_uc002oia.2_Missense_Mutation_p.R119I|YIF1B_uc002ohy.2_Missense_Mutation_p.R119I|YIF1B_uc002oib.2_Missense_Mutation_p.R119I	p.R122I	NM_001039672	NP_001034761	Q5BJH7	YIF1B_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	414	-	all_cancers(60;1.07e-06)		122			Cytoplasmic (Potential).		H7BXS8|Q5JPC2|Q8WY70|Q96C02|Q96IC4	Missense_Mutation	SNP	ENST00000339413.6	37	c.365G>T	CCDS33010.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.227659	0.39399	.	.	ENSG00000167645	ENST00000339413;ENST00000329420;ENST00000392124;ENST00000337679	T;T;T;T	0.56776	0.86;0.86;0.88;0.44	4.82	1.6	0.23607	.	0.168907	0.49916	D	0.000122	T	0.53834	0.1821	M	0.69523	2.12	0.52501	D	0.999959	B;P;B;B;B	0.36110	0.25;0.537;0.041;0.132;0.348	B;B;B;B;B	0.43575	0.132;0.424;0.059;0.181;0.182	T	0.50800	-0.8785	10	0.66056	D	0.02	-27.5836	7.2301	0.26038	0.0:0.2776:0.0:0.7224	.	91;119;119;122;119	Q5BJH7-2;Q5BJH7-5;Q5BJH7-4;Q5BJH7;Q5BJH7-3	.;.;.;YIF1B_HUMAN;.	I	122;107;91;119	ENSP00000343435:R122I;ENSP00000329559:R107I;ENSP00000375971:R91I;ENSP00000337411:R119I	ENSP00000329559:R107I	R	-	2	0	YIF1B	43491741	1.000000	0.71417	0.818000	0.32626	0.468000	0.32798	1.762000	0.38451	-0.021000	0.14009	-0.481000	0.04817	AGA		0.597	YIF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460511.1		NM_033557		73	246	1	0	4.03997e-35	1	4.31797e-35	73	246		
NFKBIB	4793	broad.mit.edu	37	19	39398291	39398291	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:39398291G>C	ENST00000313582.5	+	5	995	c.961G>C	c.(961-963)Gac>Cac	p.D321H	NFKBIB_ENST00000392079.3_Missense_Mutation_p.D289H|NFKBIB_ENST00000572515.1_Missense_Mutation_p.D321H	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	321					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|signal transduction (GO:0007165)|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, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CGACAGCGGAGACGAGGGCGT	0.652																																					Pancreas(165;1492 2005 6979 7739 34483)	uc002ojw.2		NaN																	0				lung(1)|kidney(1)	2						c.(961-963)GAC>CAC		nuclear factor of kappa light polypeptide gene							8.0	9.0	9.0					19																	39398291		2147	4230	6377	SO:0001583	missense	4793				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity	g.chr19:39398291G>C	L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825		"""Ankyrin repeat domain containing"""	7798	protein-coding gene	gene with protein product		604495				9763672	Standard	NM_002503		Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000313582.5:c.961G>C	19.37:g.39398291G>C	ENSP00000312988:p.Asp321His					NFKBIB_uc002ojx.2_Missense_Mutation_p.D289H|NFKBIB_uc002ojy.2_Missense_Mutation_p.D321H	p.D321H	NM_002503	NP_002494	Q15653	IKBB_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		5	1019	+	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		321					A8K3F4|Q96BJ7	Missense_Mutation	SNP	ENST00000313582.5	37	c.961G>C	CCDS12524.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621585	0.46736	.	.	ENSG00000104825	ENST00000509705;ENST00000313582;ENST00000392079	T;T	0.56776	0.44;0.73	4.99	3.93	0.45458	.	0.109105	0.41097	D	0.000953	T	0.50309	0.1608	N	0.24115	0.695	0.19775	N	0.999955	P;D;P	0.65815	0.736;0.995;0.61	B;P;B	0.60415	0.443;0.874;0.443	T	0.37056	-0.9722	10	0.87932	D	0	-16.2896	6.7672	0.23573	0.0899:0.0:0.7364:0.1737	.	344;289;321	Q59EM7;G5E9C2;Q15653	.;.;IKBB_HUMAN	H	344;321;289	ENSP00000312988:D321H;ENSP00000375929:D289H	ENSP00000312988:D321H	D	+	1	0	NFKBIB	44090131	0.000000	0.05858	0.198000	0.23420	0.568000	0.35870	0.491000	0.22419	1.435000	0.47434	0.591000	0.81541	GAC		0.652	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438155.1		NM_002503		5	24	0	0	0	1	0	5	24		
FBXO17	115290	broad.mit.edu	37	19	39435635	39435635	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:39435635G>T	ENST00000292852.4	-	5	1008	c.667C>A	c.(667-669)Cag>Aag	p.Q223K	CTC-360G5.8_ENST00000599996.1_Nonsense_Mutation_p.S127*|SARS2_ENST00000448145.2_Missense_Mutation_p.Q58K|FBXO17_ENST00000595329.1_Missense_Mutation_p.Q223K	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	223	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TCAGTCCACTGAAGGACCGGG	0.612																																						uc010xuq.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(172-174)CAG>AAG		seryl-tRNA synthetase 2 isoform b precursor							74.0	68.0	70.0					19																	39435635		2203	4300	6503	SO:0001583	missense	54938				seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity	g.chr19:39435635G>T	AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"""F-boxes /  ""other"""""	18754	protein-coding gene	gene with protein product	"""F-box only protein 26"""	609094	"""F-box only protein 17"""	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.667C>A	19.37:g.39435635G>T	ENSP00000292852:p.Gln223Lys					FBXO17_uc002okg.1_Missense_Mutation_p.Q223K|FBXO17_uc002okf.1_Missense_Mutation_p.Q232K	p.Q58K	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		4	380	-	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Error:Variant_position_missing_in_Q9NP81_after_alignment					Q96LQ4	Missense_Mutation	SNP	ENST00000292852.4	37	c.172C>A	CCDS12526.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758908	0.31137	.	.	ENSG00000104835	ENST00000448145;ENST00000392076;ENST00000292852	T;T	0.32988	1.43;1.43	5.45	4.34	0.51931	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.000000	0.53938	D	0.000046	T	0.49558	0.1564	M	0.74546	2.27	.	.	.	P;D	0.53312	0.789;0.959	P;D	0.64687	0.761;0.928	T	0.55958	-0.8058	9	0.30854	T	0.27	.	10.9866	0.47526	0.0:0.0:0.814:0.186	.	58;223	E7EX87;Q96EF6	.;FBX17_HUMAN	K	58;232;223	ENSP00000399330:Q58K;ENSP00000292852:Q223K	ENSP00000292852:Q223K	Q	-	1	0	FBXO17	44127475	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	3.425000	0.52771	2.716000	0.92895	0.467000	0.42956	CAG		0.612	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1		NM_024907		24	112	1	0	7.33532e-06	1	7.51282e-06	24	112		
ZFP36	7538	broad.mit.edu	37	19	39899334	39899334	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:39899334G>A	ENST00000248673.3	+	2	1034	c.976G>A	c.(976-978)Gag>Aag	p.E326K	ZFP36_ENST00000597629.1_Missense_Mutation_p.E332K|MIR4530_ENST00000581459.1_RNA	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	326	Interaction with CNOT1.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTCTGTTTCTGAGTGACAAAG	0.617																																					NSCLC(67;1164 1324 12056 21056 30097)	uc002olh.1		NaN																	0				pancreas(1)	1						c.(976-978)GAG>AAG		zinc finger protein 36, C3H type, homolog							28.0	30.0	30.0					19																	39899334		2195	4285	6480	SO:0001583	missense	7538				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	g.chr19:39899334G>A	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.976G>A	19.37:g.39899334G>A	ENSP00000248673:p.Glu326Lys					ZFP36_uc010egn.1_Silent_p.L198L	p.E326K	NM_003407	NP_003398	P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	1034	+	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		326					B2RA54	Missense_Mutation	SNP	ENST00000248673.3	37	c.976G>A		.	.	.	.	.	.	.	.	.	.	G	24.7	4.562829	0.86335	.	.	ENSG00000128016	ENST00000248673	T	0.19938	2.11	4.38	4.38	0.52667	.	0.063724	0.64402	U	0.000016	T	0.18467	0.0443	L	0.36672	1.1	0.43084	D	0.994747	P	0.51791	0.948	B	0.40534	0.332	T	0.04090	-1.0978	10	0.72032	D	0.01	.	14.8675	0.70427	0.0:0.0:1.0:0.0	.	326	P26651	TTP_HUMAN	K	326	ENSP00000248673:E326K	ENSP00000248673:E326K	E	+	1	0	ZFP36	44591174	1.000000	0.71417	0.997000	0.53966	0.831000	0.47069	9.330000	0.96422	2.457000	0.83068	0.545000	0.68477	GAG		0.617	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding					16	70	0	0	0	1	0	16	70		
HIPK4	147746	broad.mit.edu	37	19	40889768	40889768	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:40889768G>A	ENST00000291823.2	-	2	1028	c.744C>T	c.(742-744)ttC>ttT	p.F248F		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	248	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TGCGCTTGAAGAAGTGGTGGG	0.627																																						uc002onp.2		NaN																	0				ovary(1)|stomach(1)	2						c.(742-744)TTC>TTT		homeodomain interacting protein kinase 4							66.0	71.0	69.0					19																	40889768		2203	4300	6503	SO:0001819	synonymous_variant	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40889768G>A	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.744C>T	19.37:g.40889768G>A							p.F248F	NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		2	1029	-			248			Protein kinase.		A8K863|Q96M54	Silent	SNP	ENST00000291823.2	37	c.744C>T	CCDS12555.1																																																																																				0.627	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1		NM_144685		11	97	0	0	0	1	0	11	97		
ITPKC	80271	broad.mit.edu	37	19	41235160	41235160	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:41235160G>C	ENST00000263370.2	+	3	1342	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	437					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CTGTCAGTGTGAGCAGCGCAG	0.532																																						uc002oot.2		NaN																	0					0						c.(1309-1311)GAG>CAG		inositol 1,4,5-trisphosphate 3-kinase C							70.0	61.0	64.0					19																	41235160		2203	4300	6503	SO:0001583	missense	80271					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr19:41235160G>C	Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.1309G>C	19.37:g.41235160G>C	ENSP00000263370:p.Glu437Gln						p.E437Q	NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		3	1342	+			437					Q9UE25|Q9Y475	Missense_Mutation	SNP	ENST00000263370.2	37	c.1309G>C	CCDS12563.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998478	0.74818	.	.	ENSG00000086544	ENST00000263370	T	0.37752	1.18	5.49	5.49	0.81192	.	0.046757	0.85682	D	0.000000	T	0.65217	0.2670	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.69285	-0.5185	10	0.87932	D	0	-33.7681	18.5144	0.90930	0.0:0.0:1.0:0.0	.	437	Q96DU7	IP3KC_HUMAN	Q	437	ENSP00000263370:E437Q	ENSP00000263370:E437Q	E	+	1	0	ITPKC	45927000	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.776000	0.99001	2.746000	0.94184	0.561000	0.74099	GAG		0.532	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1		NM_025194		14	56	0	0	0	1	0	14	56		
CYP2A13	1553	broad.mit.edu	37	19	41596470	41596470	+	Splice_Site	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:41596470G>T	ENST00000330436.3	+	4	654		c.e4+1			NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13						small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	CACGGGGCAGGTAACTGGCTG	0.597																																						uc002opt.2		NaN																	0				ovary(2)|skin(1)	3						c.e4+1		cytochrome P450, family 2, subfamily A,	Clomipramine(DB01242)|Nicotine(DB00184)						79.0	73.0	75.0					19																	41596470		2203	4300	6503	SO:0001630	splice_region_variant	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41596470G>T	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.654+1G>T	19.37:g.41596470G>T							p.Q218_splice	NM_000766	NP_000757	Q16696	CP2AD_HUMAN			4	663	+								Q53YR8|Q6R569|Q6R570|Q9H2X2	Splice_Site	SNP	ENST00000330436.3	37	c.654_splice	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	11.46	1.645906	0.29246	.	.	ENSG00000197838	ENST00000330436	.	.	.	3.66	3.66	0.41972	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3669	0.55234	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP2A13	46288310	1.000000	0.71417	0.989000	0.46669	0.232000	0.25224	7.070000	0.76763	1.871000	0.54225	0.195000	0.17529	.		0.597	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1		NM_000766	Intron	15	103	1	0	2.23348e-06	1	2.29586e-06	15	103		
ZNF526	116115	broad.mit.edu	37	19	42728670	42728670	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:42728670G>A	ENST00000301215.3	+	3	340	c.115G>A	c.(115-117)Gag>Aag	p.E39K		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	39					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				AGAAGTGACTGAGATGACACC	0.542																																						uc002osz.1		NaN																	0					0						c.(115-117)GAG>AAG		zinc finger protein 526							194.0	161.0	172.0					19																	42728670		2203	4300	6503	SO:0001583	missense	116115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42728670G>A	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.115G>A	19.37:g.42728670G>A	ENSP00000301215:p.Glu39Lys						p.E39K	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN			3	271	+		Prostate(69;0.0704)	39					B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	ENST00000301215.3	37	c.115G>A	CCDS12598.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554401	0.86231	.	.	ENSG00000167625	ENST00000437878;ENST00000301215	T	0.08984	3.03	4.08	4.08	0.47627	.	0.496290	0.18137	N	0.150531	T	0.08358	0.0208	N	0.24115	0.695	0.44825	D	0.997832	P	0.46987	0.888	P	0.44561	0.453	T	0.37103	-0.9720	10	0.36615	T	0.2	-12.6175	14.5717	0.68216	0.0:0.0:1.0:0.0	.	39	Q8TF50	ZN526_HUMAN	K	39	ENSP00000301215:E39K	ENSP00000301215:E39K	E	+	1	0	ZNF526	47420510	0.988000	0.35896	0.956000	0.39512	0.961000	0.63080	3.965000	0.56788	2.562000	0.86427	0.462000	0.41574	GAG		0.542	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2		XM_057401		49	123	0	0	0	1	0	49	123		
CIC	23152	broad.mit.edu	37	19	42797160	42797160	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:42797160G>A	ENST00000575354.2	+	15	3562	c.3522G>A	c.(3520-3522)ccG>ccA	p.P1174P	CIC_ENST00000160740.3_Silent_p.P1172P|CIC_ENST00000572681.2_Silent_p.P2081P	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1174	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGCCCAGCCCGAAGGCCCCCC	0.652			"""Mis, F, S"""		oligodendroglioma																																	uc002otf.1		NaN		Rec	yes		19	19q13.2	23152	T	capicua homolog			O	DUX4		soft tissue sarcoma		0				ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11						c.(3520-3522)CCG>CCA		capicua homolog							25.0	30.0	28.0					19																	42797160		2157	4204	6361	SO:0001819	synonymous_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42797160G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3522G>A	19.37:g.42797160G>A							p.P1174P	NM_015125	NP_055940	Q96RK0	CIC_HUMAN			15	3562	+		Prostate(69;0.00682)	1174			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Silent	SNP	ENST00000575354.2	37	c.3522G>A	CCDS12601.1																																																																																				0.652	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2				14	59	0	0	0	1	0	14	59		
TMEM145	284339	broad.mit.edu	37	19	42828958	42828958	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:42828958C>G	ENST00000301204.3	+	15	1512	c.1471C>G	c.(1471-1473)Cga>Gga	p.R491G	MEGF8_ENST00000334370.4_5'Flank|MEGF8_ENST00000251268.6_5'Flank	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	491					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TGGCCCCCTTCGAGACCTCTG	0.716																																						uc002otk.1		NaN																	0					0						c.(1471-1473)CGA>GGA		transmembrane protein 145							11.0	14.0	13.0					19																	42828958		2196	4291	6487	SO:0001583	missense	284339					integral to membrane		g.chr19:42828958C>G	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.1471C>G	19.37:g.42828958C>G	ENSP00000301204:p.Arg491Gly					MEGF8_uc002otl.3_5'Flank	p.R491G	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN			15	1523	+		Prostate(69;0.00682)	491						Missense_Mutation	SNP	ENST00000301204.3	37	c.1471C>G	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666428	0.47677	.	.	ENSG00000167619	ENST00000301204	T	0.52983	0.64	4.12	4.12	0.48240	.	2569.810000	0.00166	N	0.000000	T	0.47358	0.1441	N	0.08118	0	0.30543	N	0.766217	P	0.39748	0.686	P	0.50082	0.63	T	0.54125	-0.8340	10	0.87932	D	0	.	12.5786	0.56378	0.0:1.0:0.0:0.0	.	491	Q8NBT3	TM145_HUMAN	G	491	ENSP00000301204:R491G	ENSP00000301204:R491G	R	+	1	2	TMEM145	47520798	0.991000	0.36638	0.986000	0.45419	0.875000	0.50365	2.090000	0.41682	2.240000	0.73641	0.557000	0.71058	CGA		0.716	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1		NM_173633		8	27	0	0	0	1	0	8	27		
MEGF8	1954	broad.mit.edu	37	19	42863100	42863100	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:42863100G>A	ENST00000251268.6	+	30	5337	c.5337G>A	c.(5335-5337)ctG>ctA	p.L1779L	MEGF8_ENST00000334370.4_Silent_p.L1712L	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1779					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CACCTCACCTGAAGGAGGTGA	0.577																																						uc002otl.3		NaN																	0				ovary(1)	1						c.(5134-5136)CTG>CTA		multiple EGF-like-domains 8							32.0	31.0	31.0					19																	42863100		2203	4299	6502	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42863100G>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.5337G>A	19.37:g.42863100G>A						MEGF8_uc002otm.3_Silent_p.L1320L	p.L1712L	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			29	5771	+		Prostate(69;0.00682)	1779			Extracellular (Potential).		A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.5136G>A																																																																																					0.577	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1		NM_001410		5	16	0	0	0	1	0	5	16		
KCNN4	3783	broad.mit.edu	37	19	44273668	44273668	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:44273668G>C	ENST00000262888.3	-	6	1370	c.975C>G	c.(973-975)ttC>ttG	p.F325L		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	325	Calmodulin-binding.				calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	TATGTTTGTAGAACATCCAGG	0.592																																						uc002oxl.2		NaN																	0				ovary(2)	2						c.(973-975)TTC>TTG		intermediate conductance calcium-activated	Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)						92.0	87.0	89.0					19																	44273668		2203	4300	6503	SO:0001583	missense	3783				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	g.chr19:44273668G>C	AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.975C>G	19.37:g.44273668G>C	ENSP00000262888:p.Phe325Leu					KCNN4_uc010eiz.2_Intron	p.F325L	NM_002250	NP_002241	O15554	KCNN4_HUMAN			6	1371	-		Prostate(69;0.0352)	325			Calmodulin-binding.		Q53XR4	Missense_Mutation	SNP	ENST00000262888.3	37	c.975C>G	CCDS12630.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911822	0.52439	.	.	ENSG00000104783	ENST00000262888;ENST00000407385	T	0.24723	1.84	5.23	0.677	0.17964	Calmodulin-binding domain (2);	0.474121	0.22498	N	0.059270	T	0.13798	0.0334	N	0.24115	0.695	0.28696	N	0.904339	B	0.02656	0.0	B	0.04013	0.001	T	0.11131	-1.0600	10	0.42905	T	0.14	-9.1608	5.685	0.17797	0.2471:0.145:0.6079:0.0	.	325	O15554	KCNN4_HUMAN	L	325;193	ENSP00000262888:F325L	ENSP00000262888:F325L	F	-	3	2	KCNN4	48965508	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.421000	0.34815	0.306000	0.22856	0.655000	0.94253	TTC		0.592	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1		NM_002250		50	127	0	0	0	1	0	50	127		
ZNF283	284349	broad.mit.edu	37	19	44351774	44351774	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:44351774C>T	ENST00000324461.7	+	7	1318	c.1021C>T	c.(1021-1023)Cat>Tat	p.H341Y	ZNF283_ENST00000588797.1_Missense_Mutation_p.H202Y	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	341					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)			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TGAGATAATTCATACAGGTGA	0.393																																						uc002oxr.3		NaN																	0					0						c.(1021-1023)CAT>TAT		zinc finger protein 283							52.0	61.0	58.0					19																	44351774		2153	4273	6426	SO:0001583	missense	284349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44351774C>T	AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1021C>T	19.37:g.44351774C>T	ENSP00000327314:p.His341Tyr					ZNF283_uc002oxp.3_Missense_Mutation_p.H202Y	p.H341Y	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN			7	1289	+		Prostate(69;0.0352)	341					B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	ENST00000324461.7	37	c.1021C>T	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568340	0.65651	.	.	ENSG00000167637	ENST00000324461	T	0.67523	-0.27	2.9	2.9	0.33743	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84529	0.5492	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.88552	0.3117	9	0.87932	D	0	.	12.9955	0.58644	0.0:1.0:0.0:0.0	.	341	Q8N7M2	ZN283_HUMAN	Y	341	ENSP00000327314:H341Y	ENSP00000327314:H341Y	H	+	1	0	ZNF283	49043614	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.727000	0.74764	1.631000	0.50456	0.563000	0.77884	CAT		0.393	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1		NM_181845		19	49	0	0	0	1	0	19	49		
MARK4	57787	broad.mit.edu	37	19	45781258	45781258	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:45781258G>A	ENST00000262891.4	+	9	1195	c.864G>A	c.(862-864)cgG>cgA	p.R288R	MARK4_ENST00000300843.4_Silent_p.R288R	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	288	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GCATCCTGCGGAGATTTTTGG	0.572																																						uc002pbb.1		NaN																	0				central_nervous_system(2)|large_intestine(1)	3						c.(862-864)CGG>CGA		RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;							110.0	112.0	111.0					19																	45781258		2203	4300	6503	SO:0001819	synonymous_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45781258G>A	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.864G>A	19.37:g.45781258G>A						MARK4_uc002paz.1_Intron|MARK4_uc002pba.1_Silent_p.R288R|MARK4_uc002pbc.1_Silent_p.R154R	p.R288R			Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	9	869	+		all_neural(266;0.224)|Ovarian(192;0.231)	288			Protein kinase.		Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Silent	SNP	ENST00000262891.4	37	c.864G>A	CCDS56097.1																																																																																				0.572	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1		NM_031417		45	102	0	0	0	1	0	45	102		
DMWD	1762	broad.mit.edu	37	19	46294229	46294229	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:46294229G>C	ENST00000270223.6	-	2	603	c.558C>G	c.(556-558)ttC>ttG	p.F186L	DMWD_ENST00000601370.1_5'UTR|DMWD_ENST00000377735.3_Missense_Mutation_p.F186L	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	186										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GACCCGCTGAGAAGCCCACCA	0.562																																						uc002pdj.1		NaN																	0					0						c.(556-558)TTC>TTG		dystrophia myotonica-containing WD repeat motif							160.0	153.0	155.0					19																	46294229		2203	4300	6503	SO:0001583	missense	1762				meiosis			g.chr19:46294229G>C	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.558C>G	19.37:g.46294229G>C	ENSP00000270223:p.Phe186Leu					DMWD_uc002pdk.1_Missense_Mutation_p.F186L	p.F186L	NM_004943	NP_004934	Q09019	DMWD_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)	2	604	-		Ovarian(192;0.0308)|all_neural(266;0.112)	186						Missense_Mutation	SNP	ENST00000270223.6	37	c.558C>G	CCDS33054.1	.	.	.	.	.	.	.	.	.	.	g	21.2	4.118230	0.77323	.	.	ENSG00000185800	ENST00000377735;ENST00000270223	T;T	0.27720	1.65;1.65	3.87	1.74	0.24563	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.069188	0.56097	D	0.000023	T	0.42449	0.1203	L	0.50333	1.59	0.53005	D	0.999965	D;P	0.67145	0.996;0.956	D;D	0.73380	0.98;0.931	T	0.14643	-1.0465	10	0.41790	T	0.15	-24.1508	8.0809	0.30744	0.206:0.0:0.794:0.0	.	186;186	G5E9A7;Q09019	.;DMWD_HUMAN	L	186	ENSP00000366964:F186L;ENSP00000270223:F186L	ENSP00000270223:F186L	F	-	3	2	DMWD	50986069	1.000000	0.71417	0.995000	0.50966	0.876000	0.50452	3.587000	0.53957	0.614000	0.30107	0.556000	0.70494	TTC		0.562	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1		NM_004943		40	108	0	0	0	1	0	40	108		
IGFL1	374918	broad.mit.edu	37	19	46733686	46733686	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:46733686G>C	ENST00000437936.1	+	3	258	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	AC006262.10_ENST00000597337.1_RNA	NM_198541.1	NP_940943.1	Q6UW32	IGFL1_HUMAN	IGF-like family member 1	79						extracellular space (GO:0005615)				lung(5)	5		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)		AGTCTGCTTTGAGCAGTGCTG	0.572																																						uc002pee.2		NaN																	0					0						c.(235-237)GAG>CAG		IGF-like family member 1 precursor							123.0	124.0	124.0					19																	46733686		2069	4220	6289	SO:0001583	missense	374918					extracellular space	protein binding	g.chr19:46733686G>C	AY359013	CCDS46123.1	19q13.32	2010-06-15			ENSG00000188293	ENSG00000188293			24093	protein-coding gene	gene with protein product		610544				12975309	Standard	NM_198541		Approved	UNQ644	uc002pee.3	Q6UW32		ENST00000437936.1:c.235G>C	19.37:g.46733686G>C	ENSP00000415823:p.Glu79Gln						p.E79Q	NM_198541	NP_940943	Q6UW32	IGFL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)	3	258	+		Ovarian(192;0.0731)|all_neural(266;0.196)	79						Missense_Mutation	SNP	ENST00000437936.1	37	c.235G>C	CCDS46123.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824624	0.50739	.	.	ENSG00000188293	ENST00000437936	T	0.24723	1.84	2.61	2.61	0.31194	.	0.000000	0.36034	N	0.002823	T	0.28699	0.0711	L	0.58810	1.83	0.21861	N	0.999502	P	0.46142	0.873	P	0.47299	0.543	T	0.06409	-1.0828	10	0.40728	T	0.16	-33.6455	8.8209	0.35025	0.0:0.0:1.0:0.0	.	79	Q6UW32	IGFL1_HUMAN	Q	79	ENSP00000415823:E79Q	ENSP00000415823:E79Q	E	+	1	0	IGFL1	51425526	0.874000	0.30092	0.936000	0.37596	0.937000	0.57800	1.153000	0.31676	1.749000	0.51849	0.462000	0.41574	GAG		0.572	IGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461724.1		NM_198541		40	145	0	0	0	1	0	40	145		
STRN4	29888	broad.mit.edu	37	19	47224014	47224014	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:47224014G>C	ENST00000263280.6	-	17	2156	c.2107C>G	c.(2107-2109)Ctg>Gtg	p.L703V	STRN4_ENST00000391910.3_Missense_Mutation_p.L710V|STRN4_ENST00000539396.1_Missense_Mutation_p.L584V|STRN4_ENST00000594357.2_5'Flank	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	703						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CAGAGACGCAGGGAGCAGTCA	0.637																																						uc002pfl.2		NaN																	0					0						c.(2107-2109)CTG>GTG		zinedin isoform 1							113.0	85.0	94.0					19																	47224014		2203	4300	6503	SO:0001583	missense	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47224014G>C	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.2107C>G	19.37:g.47224014G>C	ENSP00000263280:p.Leu703Val					STRN4_uc002pfm.2_Missense_Mutation_p.L710V|STRN4_uc010xyf.1_RNA	p.L703V	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	17	2140	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	703			WD 6.		A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	c.2107C>G	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647324	0.29246	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	T;T;T	0.55588	0.51;0.51;0.51	4.36	2.14	0.27477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.203527	0.32819	N	0.005611	T	0.21718	0.0523	N	0.02266	-0.62	0.80722	D	1	B;B	0.27656	0.184;0.025	B;B	0.31101	0.124;0.015	T	0.02208	-1.1195	10	0.22109	T	0.4	-9.3841	3.8868	0.09102	0.092:0.162:0.5792:0.1668	.	710;703	F8VYA6;Q9NRL3	.;STRN4_HUMAN	V	710;703;584	ENSP00000375777:L710V;ENSP00000263280:L703V;ENSP00000440901:L584V	ENSP00000263280:L703V	L	-	1	2	STRN4	51915854	0.932000	0.31603	0.998000	0.56505	0.835000	0.47333	1.518000	0.35877	0.430000	0.26230	0.462000	0.41574	CTG		0.637	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2				10	57	0	0	0	1	0	10	57		
GRIN2D	2906	broad.mit.edu	37	19	48908550	48908550	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:48908550C>G	ENST00000263269.3	+	3	1113	c.1025C>G	c.(1024-1026)cCt>cGt	p.P342R		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	342					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGTTTCCTTCCTGAGCTCGGC	0.682																																						uc002pjc.3		NaN																	0				ovary(3)|breast(3)	6						c.(1024-1026)CCT>CGT		N-methyl-D-aspartate receptor subunit 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						22.0	24.0	23.0					19																	48908550		2201	4294	6495	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48908550C>G	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1025C>G	19.37:g.48908550C>G	ENSP00000263269:p.Pro342Arg						p.P342R	NM_000836	NP_000827	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	3	1113	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	342			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000263269.3	37	c.1025C>G	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.304970	0.81247	.	.	ENSG00000105464	ENST00000263269	T	0.07021	3.23	4.45	4.45	0.53987	.	0.312858	0.28371	N	0.015594	T	0.29749	0.0743	M	0.75615	2.305	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.05818	-1.0862	10	0.87932	D	0	.	16.2466	0.82448	0.0:1.0:0.0:0.0	.	342	O15399	NMDE4_HUMAN	R	342	ENSP00000263269:P342R	ENSP00000263269:P342R	P	+	2	0	GRIN2D	53600362	1.000000	0.71417	0.975000	0.42487	0.994000	0.84299	7.525000	0.81892	2.199000	0.70637	0.561000	0.74099	CCT		0.682	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1				6	17	0	0	0	1	0	6	17		
HRC	3270	broad.mit.edu	37	19	49656911	49656911	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:49656911G>A	ENST00000252825.4	-	1	1770	c.1584C>T	c.(1582-1584)ctC>ctT	p.L528L	HRC_ENST00000595625.1_Silent_p.L528L	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	528					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GGTTCAGGCTGAGGCCATGAC	0.577																																					Melanoma(37;75 1097 24567 25669 30645)	uc002pmv.2		NaN																	0				ovary(1)	1						c.(1582-1584)CTC>CTT		histidine rich calcium binding protein							78.0	50.0	59.0					19																	49656911		2203	4300	6503	SO:0001819	synonymous_variant	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49656911G>A		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1584C>T	19.37:g.49656911G>A							p.L528L	NM_002152	NP_002143	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	1771	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	528					Q504Y6	Silent	SNP	ENST00000252825.4	37	c.1584C>T	CCDS12759.1																																																																																				0.577	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1		NM_002152		8	26	0	0	0	1	0	8	26		
SCAF1	58506	broad.mit.edu	37	19	50155667	50155667	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:50155667C>G	ENST00000360565.3	+	7	2145	c.2021C>G	c.(2020-2022)tCg>tGg	p.S674W		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	674	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GGCTCCACCTCGTGTGGTGAC	0.706																																						uc002poq.2		NaN																	0					0						c.(2020-2022)TCG>TGG		SR-related CTD-associated factor 1							8.0	9.0	9.0					19																	50155667		2153	4241	6394	SO:0001583	missense	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50155667C>G	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.2021C>G	19.37:g.50155667C>G	ENSP00000353769:p.Ser674Trp						p.S674W	NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	2145	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	674			Ser-rich.		Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	c.2021C>G	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	C	1.132	-0.652030	0.03506	.	.	ENSG00000126461	ENST00000360565	T	0.32753	1.44	1.96	0.879	0.19155	.	.	.	.	.	T	0.16811	0.0404	N	0.08118	0	0.09310	N	1	D	0.54047	0.964	P	0.48189	0.57	T	0.08432	-1.0722	8	.	.	.	-0.1579	3.8277	0.08861	0.0:0.5713:0.0:0.4286	.	674	Q9H7N4	SFR19_HUMAN	W	674	ENSP00000353769:S674W	.	S	+	2	0	SCAF1	54847479	0.002000	0.14202	0.001000	0.08648	0.253000	0.25986	0.216000	0.17585	0.366000	0.24427	0.561000	0.74099	TCG		0.706	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1		NM_021228		11	23	0	0	0	1	0	11	23		
KLK5	25818	broad.mit.edu	37	19	51452191	51452191	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:51452191G>A	ENST00000336334.3	-	4	868	c.516C>T	c.(514-516)atC>atT	p.I172I	KLK5_ENST00000391809.2_Silent_p.I172I|CTB-147C22.8_ENST00000601506.1_RNA|CTB-147C22.8_ENST00000594939.1_RNA|KLK5_ENST00000593428.1_Silent_p.I172I	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	172	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		AGGAGACGTTGATGGGTCTGA	0.537																																						uc002pue.2		NaN																	0					0						c.(514-516)ATC>ATT		kallikrein-related peptidase 5 preproprotein							98.0	99.0	98.0					19																	51452191		2203	4300	6503	SO:0001819	synonymous_variant	25818				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51452191G>A	AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"""Kallikreins"""	6366	protein-coding gene	gene with protein product		605643	"""kallikrein 5"""			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.516C>T	19.37:g.51452191G>A						KLK5_uc002puf.2_Silent_p.I172I|KLK5_uc002pug.2_Silent_p.I172I	p.I172I	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	5	734	-		all_neural(266;0.026)	172			Peptidase S1.		Q53ZR3|Q9HBG8	Silent	SNP	ENST00000336334.3	37	c.516C>T	CCDS12810.1																																																																																				0.537	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1		NM_012427		22	85	0	0	0	1	0	22	85		
KLK5	25818	broad.mit.edu	37	19	51452357	51452357	+	Missense_Mutation	SNP	C	C	T	rs117067639	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:51452357C>T	ENST00000336334.3	-	4	702	c.350G>A	c.(349-351)cGt>cAt	p.R117H	KLK5_ENST00000391809.2_Missense_Mutation_p.R117H|CTB-147C22.8_ENST00000601506.1_RNA|CTB-147C22.8_ENST00000594939.1_RNA|KLK5_ENST00000593428.1_Missense_Mutation_p.R117H	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	117	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GTGGCCGAGACGGACTCTGAA	0.592													C|||	8	0.00159744	0.0	0.0014	5008	,	,		9618	0.0		0.001	False		,,,				2504	0.0061					uc002pue.2		NaN																	0					0						c.(349-351)CGT>CAT		kallikrein-related peptidase 5 preproprotein		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	82.0	85.0	84.0		350,350,350	0.0	0.0	19	dbSNP_133	84	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense	KLK5	NM_001077491.1,NM_001077492.1,NM_012427.4	29,29,29	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	possibly-damaging,possibly-damaging,possibly-damaging	117/294,117/294,117/294	51452357	4,13002	2203	4300	6503	SO:0001583	missense	25818				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51452357C>T	AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"""Kallikreins"""	6366	protein-coding gene	gene with protein product		605643	"""kallikrein 5"""			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.350G>A	19.37:g.51452357C>T	ENSP00000337733:p.Arg117His					KLK5_uc002puf.2_Missense_Mutation_p.R117H|KLK5_uc002pug.2_Missense_Mutation_p.R117H	p.R117H	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	5	568	-		all_neural(266;0.026)	117			Peptidase S1.		Q53ZR3|Q9HBG8	Missense_Mutation	SNP	ENST00000336334.3	37	c.350G>A	CCDS12810.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	12.69	2.012915	0.35511	0.0	4.65E-4	ENSG00000167754	ENST00000336334;ENST00000391809	D;D	0.89810	-2.57;-2.57	4.0	0.0323	0.14175	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.33916	U	0.004426	D	0.84288	0.5439	L	0.46947	1.48	0.24081	N	0.995949	P	0.41546	0.754	P	0.45449	0.481	T	0.75127	-0.3427	10	0.42905	T	0.14	.	6.344	0.21339	0.3822:0.4502:0.1676:0.0	.	117	Q9Y337	KLK5_HUMAN	H	117	ENSP00000337733:R117H;ENSP00000375685:R117H	ENSP00000337733:R117H	R	-	2	0	KLK5	56144169	0.704000	0.27836	0.015000	0.15790	0.447000	0.32167	1.346000	0.33964	0.289000	0.22422	0.563000	0.77884	CGT		0.592	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1		NM_012427		29	102	0	0	0	1	0	29	102		
GP6	51206	broad.mit.edu	37	19	55543735	55543735	+	Missense_Mutation	SNP	G	G	C	rs28385643		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:55543735G>C	ENST00000417454.1	-	3	124	c.97C>G	c.(97-99)Ctg>Gtg	p.L33V	CTC-550B14.7_ENST00000586961.1_RNA|GP6_ENST00000333884.2_Missense_Mutation_p.L33V|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000310373.3_Missense_Mutation_p.L33V|CTC-550B14.6_ENST00000585492.1_RNA	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	33	Ig-like C2-type 1.				blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		GAGCTGGGCAGAGCCTGGAGG	0.716																																						uc002qik.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(97-99)CTG>GTG		glycoprotein VI (platelet) isoform 2							18.0	22.0	20.0					19																	55543735		1959	4139	6098	SO:0001583	missense	51206				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity	g.chr19:55543735G>C	AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.97C>G	19.37:g.55543735G>C	ENSP00000394922:p.Leu33Val					GP6_uc002qil.2_Missense_Mutation_p.L33V|GP6_uc010esq.2_Missense_Mutation_p.L33V|RDH13_uc010esr.1_Intron	p.L33V	NM_016363	NP_057447	Q9HCN6	GPVI_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)	3	125	-			33			Ig-like C2-type 1.|Extracellular (Potential).		Q9HCN7|Q9UIF2	Missense_Mutation	SNP	ENST00000417454.1	37	c.97C>G	CCDS46184.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.434901	0.25813	.	.	ENSG00000088053	ENST00000417454;ENST00000310373;ENST00000333884	T;T;T	0.12569	2.67;2.67;2.67	3.96	-3.53	0.04667	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.15565	0.0375	M	0.76727	2.345	0.09310	N	1	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.11329	0.0;0.006;0.002	T	0.39663	-0.9603	9	0.52906	T	0.07	.	8.9062	0.35526	0.1085:0.6254:0.2661:0.0	.	33;33;33	Q9HCN6-2;Q9HCN6-3;Q9HCN6	.;.;GPVI_HUMAN	V	33	ENSP00000394922:L33V;ENSP00000308782:L33V;ENSP00000334552:L33V	ENSP00000308782:L33V	L	-	1	2	GP6	60235547	0.000000	0.05858	0.009000	0.14445	0.893000	0.52053	-0.025000	0.12413	-0.184000	0.10567	-0.270000	0.10280	CTG		0.716	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1				13	22	0	0	0	1	0	13	22		
NLRP5	126206	broad.mit.edu	37	19	56539034	56539034	+	Missense_Mutation	SNP	G	G	T	rs374971021		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:56539034G>T	ENST00000390649.3	+	7	1435	c.1435G>T	c.(1435-1437)Gtg>Ttg	p.V479L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	479	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCTCATCTGCGTGGCCCTGCA	0.617																																						uc002qmj.2		NaN																	0				ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(1435-1437)GTG>TTG		NACHT, LRR and PYD containing protein 5							31.0	35.0	33.0					19																	56539034		2129	4234	6363	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539034G>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1435G>T	19.37:g.56539034G>T	ENSP00000375063:p.Val479Leu					NLRP5_uc002qmi.2_Missense_Mutation_p.V460L	p.V479L	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1435	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	479			NACHT.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.1435G>T	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	9.321	1.058174	0.19987	.	.	ENSG00000171487	ENST00000390649	T	0.70631	-0.5	3.03	-1.73	0.08081	.	2.132630	0.02571	N	0.097750	T	0.53433	0.1796	N	0.19112	0.55	0.09310	N	1	P	0.35844	0.524	B	0.35859	0.212	T	0.47355	-0.9124	10	0.62326	D	0.03	.	2.6786	0.05087	0.3798:0.0:0.41:0.2102	.	479	P59047	NALP5_HUMAN	L	479	ENSP00000375063:V479L	ENSP00000375063:V479L	V	+	1	0	NLRP5	61230846	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.189000	0.09629	-0.258000	0.09446	-0.140000	0.14226	GTG		0.617	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1		NM_153447		16	53	1	0	1.99824e-07	1	2.06659e-07	16	53		
PEG3	5178	broad.mit.edu	37	19	57333096	57333096	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:57333096G>A	ENST00000326441.9	-	7	955	c.592C>T	c.(592-594)Cct>Tct	p.P198S	ZIM2_ENST00000391708.3_Missense_Mutation_p.P73S|ZIM2_ENST00000593711.1_Missense_Mutation_p.P73S|ZIM2_ENST00000599935.1_Missense_Mutation_p.P73S|ZIM2_ENST00000601070.1_Missense_Mutation_p.P73S|PEG3_ENST00000594706.1_5'Flank|ZIM2_ENST00000221722.5_Missense_Mutation_p.P73S|PEG3_ENST00000423103.2_Missense_Mutation_p.P198S|PEG3_ENST00000593695.1_Missense_Mutation_p.P72S|PEG3_ENST00000598410.1_Missense_Mutation_p.P73S	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	198					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCCACCACAGGAAGGGAAAGA	0.537																																						uc002qnu.2		NaN																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(592-594)CCT>TCT		paternally expressed 3 isoform 1							163.0	147.0	152.0					19																	57333096		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57333096G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.592C>T	19.37:g.57333096G>A	ENSP00000326581:p.Pro198Ser					ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_Missense_Mutation_p.P73S|ZIM2_uc002qnq.2_Missense_Mutation_p.P73S|ZIM2_uc010etp.2_Missense_Mutation_p.P73S|ZIM2_uc010ygs.1_Missense_Mutation_p.P73S|PEG3_uc002qnt.2_Missense_Mutation_p.P199S|PEG3_uc002qnv.2_Missense_Mutation_p.P198S|PEG3_uc002qnw.2_Missense_Mutation_p.P73S|PEG3_uc002qnx.2_Missense_Mutation_p.P72S|PEG3_uc010etr.2_Missense_Mutation_p.P198S	p.P198S	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	4	943	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	198					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.592C>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664980	0.67700	.	.	ENSG00000198300	ENST00000391708;ENST00000221722;ENST00000326441;ENST00000423103;ENST00000292074	T;T;T;T	0.07216	3.21;3.21;3.94;3.94	3.57	3.57	0.40892	.	0.000000	0.40469	N	0.001087	T	0.15565	0.0375	L	0.27053	0.805	.	.	.	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.994;0.994;0.994;0.998	T	0.09037	-1.0693	9	0.72032	D	0.01	-13.3581	10.9666	0.47416	0.0:0.0:1.0:0.0	.	73;198;132;73	A7E2B8;Q9GZU2;Q96Q96;Q9NZV7	.;PEG3_HUMAN;.;ZIM2_HUMAN	S	73;73;198;198;198	ENSP00000375589:P73S;ENSP00000221722:P73S;ENSP00000326581:P198S;ENSP00000403051:P198S	ENSP00000221722:P73S	P	-	1	0	ZIM2	62024908	0.990000	0.36364	0.801000	0.32222	0.959000	0.62525	4.196000	0.58407	2.322000	0.78497	0.563000	0.77884	CCT		0.537	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2				38	126	0	0	0	1	0	38	126		
ZIM3	114026	broad.mit.edu	37	19	57646567	57646567	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:57646567G>A	ENST00000269834.1	-	5	1523	c.1138C>T	c.(1138-1140)Caa>Taa	p.Q380*	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTTTTATGTTGAATGAGGTTT	0.373																																						uc002qnz.1		NaN																	0				pancreas(1)|skin(1)	2						c.(1138-1140)CAA>TAA		zinc finger, imprinted 3							115.0	119.0	117.0					19																	57646567		2203	4300	6503	SO:0001587	stop_gained	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57646567G>A	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.1138C>T	19.37:g.57646567G>A	ENSP00000269834:p.Gln380*						p.Q380*	NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1524	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	380			C2H2-type 8.		Q14CA6	Nonsense_Mutation	SNP	ENST00000269834.1	37	c.1138C>T	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	G	34	5.320969	0.95682	.	.	ENSG00000141946	ENST00000269834	.	.	.	2.71	1.65	0.23941	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999989	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	4.0237	0.09677	0.1477:0.2475:0.6048:0.0	.	.	.	.	X	380	.	ENSP00000269834:Q380X	Q	-	1	0	ZIM3	62338379	0.000000	0.05858	0.431000	0.26735	0.469000	0.32828	-3.071000	0.00618	0.463000	0.27118	0.313000	0.20887	CAA		0.373	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1				27	97	0	0	0	1	0	27	97		
ZNF543	125919	broad.mit.edu	37	19	57840340	57840340	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:57840340G>A	ENST00000321545.4	+	4	1855	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	504					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCACACTGGAGAGAAACCCTA	0.517																																						uc002qoi.1		NaN																	0				skin(1)|pancreas(1)	2						c.(1510-1512)GAG>AAG		zinc finger protein 543							87.0	80.0	83.0					19																	57840340		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57840340G>A	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.1510G>A	19.37:g.57840340G>A	ENSP00000322545:p.Glu504Lys						p.E504K	NM_213598	NP_998763	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1855	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	504					Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.1510G>A	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776174	0.70107	.	.	ENSG00000178229	ENST00000321545	T	0.24350	1.86	3.0	3.0	0.34707	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46367	0.1389	M	0.64997	1.995	0.38467	D	0.947373	D	0.89917	1.0	D	0.91635	0.999	T	0.54662	-0.8260	9	0.66056	D	0.02	.	13.1928	0.59722	0.0:0.0:1.0:0.0	.	504	Q08ER8	ZN543_HUMAN	K	504	ENSP00000322545:E504K	ENSP00000322545:E504K	E	+	1	0	ZNF543	62532152	1.000000	0.71417	0.932000	0.37286	0.488000	0.33401	3.240000	0.51368	1.654000	0.50703	0.561000	0.74099	GAG		0.517	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1		XM_064865		24	83	0	0	0	1	0	24	83		
ZNF552	79818	broad.mit.edu	37	19	58319728	58319728	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:58319728G>C	ENST00000391701.1	-	3	1073	c.904C>G	c.(904-906)Cag>Gag	p.Q302E	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	302					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		AAAAATTTCTGACAAACCTCA	0.433																																						uc002qqg.2		NaN																	0					0						c.(904-906)CAG>GAG		zinc finger protein 552							76.0	68.0	71.0					19																	58319728		2203	4300	6503	SO:0001583	missense	79818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58319728G>C	AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"""Zinc fingers, C2H2-type"", ""-"""	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.904C>G	19.37:g.58319728G>C	ENSP00000375582:p.Gln302Glu					ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.1_Missense_Mutation_p.Q298E	p.Q302E	NM_024762	NP_079038	Q9H707	ZN552_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	3	1074	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	302			C2H2-type 6.		B3KUE9|Q6P5A6	Missense_Mutation	SNP	ENST00000391701.1	37	c.904C>G	CCDS12963.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318701	0.23994	.	.	ENSG00000178935	ENST00000391701	T	0.07327	3.2	1.74	-0.752	0.11072	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03305	0.0096	N	0.03948	-0.315	0.18873	N	0.999986	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.40701	-0.9549	9	0.87932	D	0	.	4.1967	0.10447	0.0:0.5644:0.2534:0.1821	.	298;302	B7Z1H1;Q9H707	.;ZN552_HUMAN	E	302	ENSP00000375582:Q302E	ENSP00000375582:Q302E	Q	-	1	0	ZNF552	63011540	0.250000	0.23951	0.005000	0.12908	0.222000	0.24845	0.815000	0.27253	0.039000	0.15632	0.205000	0.17691	CAG		0.433	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466829.1		NM_024762		25	62	0	0	0	1	0	25	62		
C19orf18	147685	broad.mit.edu	37	19	58477903	58477903	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:58477903C>A	ENST00000314391.3	-	4	467	c.366G>T	c.(364-366)atG>atT	p.M122I		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	122						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		CTTACTATATCATATAGGAGA	0.348																																						uc002qqv.2		NaN																	0				ovary(1)	1						c.(364-366)ATG>ATT		hypothetical protein LOC147685 precursor							63.0	63.0	63.0					19																	58477903		2203	4300	6503	SO:0001583	missense	147685					integral to membrane		g.chr19:58477903C>A	BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.366G>T	19.37:g.58477903C>A	ENSP00000321519:p.Met122Ile						p.M122I	NM_152474	NP_689687	Q8NEA5	CS018_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)	4	470	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	122			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000314391.3	37	c.366G>T	CCDS12967.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892967	0.33442	.	.	ENSG00000177025	ENST00000314391	T	0.58358	0.34	4.1	-4.31	0.03698	.	1.245370	0.06053	N	0.657018	T	0.26955	0.0660	N	0.14661	0.345	0.09310	N	1	B	0.14012	0.009	B	0.06405	0.002	T	0.10800	-1.0614	10	0.38643	T	0.18	-10.0242	0.1543	0.00096	0.3001:0.2262:0.1483:0.3254	.	122	Q8NEA5	CS018_HUMAN	I	122	ENSP00000321519:M122I	ENSP00000321519:M122I	M	-	3	0	C19orf18	63169715	0.005000	0.15991	0.000000	0.03702	0.783000	0.44284	-0.356000	0.07661	-0.672000	0.05266	0.644000	0.83932	ATG		0.348	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1		NM_152474		7	22	1	0	0.0293803	1	0.0295198	7	22		
MYT1L	23040	broad.mit.edu	37	2	1795702	1795702	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:1795702C>G	ENST00000399161.2	-	25	4245	c.3498G>C	c.(3496-3498)caG>caC	p.Q1166H	MYT1L_ENST00000428368.2_Missense_Mutation_p.Q1164H|MYT1L_ENST00000407844.1_Missense_Mutation_p.Q164H	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1166					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTTCTGGACTCTGATAACGAT	0.363																																						uc002qxe.2		NaN																	0				ovary(5)|central_nervous_system(1)	6						c.(3496-3498)CAG>CAC		myelin transcription factor 1-like							119.0	105.0	109.0					2																	1795702		1836	4077	5913	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1795702C>G	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3498G>C	2.37:g.1795702C>G	ENSP00000382114:p.Gln1166His					MYT1L_uc002qxd.2_Missense_Mutation_p.Q1164H|MYT1L_uc010ewk.2_Missense_Mutation_p.Q164H	p.Q1166H	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	25	4325	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	1166					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.3498G>C		.	.	.	.	.	.	.	.	.	.	C	19.83	3.900765	0.72754	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000407844;ENST00000428368	T;T	0.48836	0.8;0.8	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.69405	0.3107	M	0.66939	2.045	0.80722	D	1	D;D;D	0.71674	0.994;0.998;0.998	D;D;D	0.79784	0.991;0.993;0.992	T	0.66388	-0.5936	10	0.49607	T	0.09	-50.5875	20.6013	0.99457	0.0:1.0:0.0:0.0	.	164;1166;1164	Q9UL68-3;Q9UL68;Q9UL68-4	.;MYT1L_HUMAN;.	H	1166;1112;164;1164	ENSP00000382114:Q1166H;ENSP00000396103:Q1164H	ENSP00000295067:Q1112H	Q	-	3	2	MYT1L	1774709	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.746000	0.85057	2.878000	0.98634	0.650000	0.86243	CAG		0.363	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1		NM_015025		11	30	0	0	0	1	0	11	30		
TRAPPC12	51112	broad.mit.edu	37	2	3481522	3481522	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:3481522G>C	ENST00000324266.5	+	10	2028	c.1833G>C	c.(1831-1833)caG>caC	p.Q611H	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.Q611H	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	611					vesicle-mediated transport (GO:0016192)												AAGTAACACAGAAATTAGATG	0.308																																						uc002qxm.1		NaN																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(1831-1833)CAG>CAC		tetratricopeptide repeat domain 15							67.0	71.0	70.0					2																	3481522		2203	4300	6503	SO:0001583	missense	51112						binding	g.chr2:3481522G>C	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1833G>C	2.37:g.3481522G>C	ENSP00000324318:p.Gln611His					TTC15_uc002qxn.1_Missense_Mutation_p.Q611H|TTC15_uc010ewm.1_Missense_Mutation_p.Q617H	p.Q611H	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)	10	2039	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)	611			TPR 2.		B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	c.1833G>C	CCDS1652.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.42|10.42	1.346631|1.346631	0.24426|0.24426	.|.	.|.	ENSG00000171853|ENSG00000171853	ENST00000452495|ENST00000382110;ENST00000304601;ENST00000324266;ENST00000415624	.|T;T;T	.|0.77358	.|-1.09;-1.09;-1.09	5.76|5.76	4.89|4.89	0.63831|0.63831	.|.	.|0.097761	.|0.64402	.|N	.|0.000001	T|T	0.73164|0.73164	0.3552|0.3552	L|L	0.50333|0.50333	1.59|1.59	0.41923|0.41923	D|D	0.990524|0.990524	.|B;B	.|0.19583	.|0.037;0.037	.|B;B	.|0.18871	.|0.016;0.023	T|T	0.69480|0.69480	-0.5134|-0.5134	5|10	.|0.36615	.|T	.|0.2	.|.	15.6182|15.6182	0.76784|0.76784	0.0:0.2758:0.7242:0.0|0.0:0.2758:0.7242:0.0	.|.	.|600;611	.|E7ENL7;Q8WVT3	.|.;TPC12_HUMAN	Q|H	13|611;600;611;110	.|ENSP00000371544:Q611H;ENSP00000324318:Q611H;ENSP00000396592:Q110H	.|ENSP00000303612:Q600H	E|Q	+|+	1|3	0|2	TTC15|TTC15	3460529|3460529	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.382000|0.382000	0.30200|0.30200	3.778000|3.778000	0.55371|0.55371	1.586000|1.586000	0.49944|0.49944	-0.133000|-0.133000	0.14855|0.14855	GAA|CAG		0.308	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2		NM_016030		7	35	0	0	0	1	0	7	35		
ITGB1BP1	9270	broad.mit.edu	37	2	9546976	9546976	+	Missense_Mutation	SNP	G	G	T	rs201269168		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:9546976G>T	ENST00000360635.3	-	8	1486	c.590C>A	c.(589-591)tCt>tAt	p.S197Y	ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.S147Y|ITGB1BP1_ENST00000490426.1_5'UTR|ITGB1BP1_ENST00000359712.3_3'UTR|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.S197Y|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.S147Y			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	197	PID.				activation of protein kinase B activity (GO:0032148)|biomineral tissue development (GO:0031214)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|myoblast migration (GO:0051451)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)|receptor clustering (GO:0043113)|regulation of blood vessel size (GO:0050880)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of integrin-mediated signaling pathway (GO:2001044)|transcription, DNA-templated (GO:0006351)|tube formation (GO:0035148)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GDP-dissociation inhibitor activity (GO:0005092)|integrin binding (GO:0005178)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		GGGTTTCTCAGATGTTAATAC	0.368																																						uc002qzj.2		NaN																	0					0						c.(589-591)TCT>TAT		integrin cytoplasmic domain-associated protein 1							147.0	142.0	144.0					2																	9546976		2203	4300	6503	SO:0001583	missense	9270				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding|protein binding	g.chr2:9546976G>T	AF012023	CCDS1662.1, CCDS1663.1	2p25.2	2008-02-05			ENSG00000119185	ENSG00000119185			23927	protein-coding gene	gene with protein product	"""integrin cytoplasmic domain-associated protein 1"", ""integrin cytoplasmic domain-associated protein 1-beta"", ""integrin cytoplasmic domain-associated protein 1-alpha"", ""bodenin"""	607153				11854171, 9281591	Standard	NM_004763		Approved	ICAP-1A, ICAP-1B, ICAP1, ICAP1A, ICAP1B, ICAP-1alpha	uc002qzj.3	O14713	OTTHUMG00000090414	ENST00000360635.3:c.590C>A	2.37:g.9546976G>T	ENSP00000353850:p.Ser197Tyr					ITGB1BP1_uc002qzk.2_Missense_Mutation_p.S147Y|ITGB1BP1_uc002qzl.2_RNA|ITGB1BP1_uc002qzm.2_RNA|ITGB1BP1_uc010yiy.1_Missense_Mutation_p.S153Y|ITGB1BP1_uc002qzn.1_3'UTR	p.S197Y	NM_004763	NP_004754	O14713	ITBP1_HUMAN		Epithelial(75;0.23)	7	767	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		197			PID.		D6W4Y9|O14714|Q53RS0	Missense_Mutation	SNP	ENST00000360635.3	37	c.590C>A	CCDS1662.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559291	0.86335	.	.	ENSG00000119185	ENST00000360635;ENST00000238091;ENST00000355346;ENST00000488451	.	.	.	5.63	5.63	0.86233	Phosphotyrosine interaction domain (1);	0.223556	0.48767	D	0.000162	T	0.54565	0.1866	N	0.24115	0.695	0.80722	D	1	P;B;D	0.55385	0.773;0.226;0.971	P;B;P	0.58331	0.678;0.176;0.837	T	0.57648	-0.7775	9	0.87932	D	0	-14.5056	13.2854	0.60241	0.0726:0.0:0.9274:0.0	.	153;147;197	B4DQY5;O14713-2;O14713	.;.;ITBP1_HUMAN	Y	197;147;197;147	.	ENSP00000238091:S147Y	S	-	2	0	ITGB1BP1	9464427	1.000000	0.71417	0.930000	0.37139	0.907000	0.53573	4.977000	0.63792	2.802000	0.96397	0.563000	0.77884	TCT		0.368	ITGB1BP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314623.2		NM_004763, NM_022334		18	46	1	0	5.3912e-06	1	5.52835e-06	18	46		
E2F6	1876	broad.mit.edu	37	2	11586617	11586617	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:11586617C>A	ENST00000381525.3	-	7	1101	c.832G>T	c.(832-834)Gaa>Taa	p.E278*	E2F6_ENST00000546212.1_Nonsense_Mutation_p.E203*|E2F6_ENST00000307236.4_Nonsense_Mutation_p.E246*|E2F6_ENST00000362009.4_3'UTR|E2F6_ENST00000542100.1_Nonsense_Mutation_p.E203*	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6	278	Transcription repression.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		TTGCTTACTTCAAGCAATTCT	0.363																																						uc002rbh.2		NaN																	0				skin(1)	1						c.(832-834)GAA>TAA		E2F transcription factor 6							62.0	57.0	58.0					2																	11586617		1813	4075	5888	SO:0001587	stop_gained	1876				negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity	g.chr2:11586617C>A	AF041381	CCDS1680.2, CCDS62858.1, CCDS62859.1	2p25.1	2008-02-05			ENSG00000169016	ENSG00000169016			3120	protein-coding gene	gene with protein product		602944				9501179	Standard	NM_198256		Approved	E2F-6	uc002rbh.4	O75461	OTTHUMG00000090565	ENST00000381525.3:c.832G>T	2.37:g.11586617C>A	ENSP00000370936:p.Glu278*					E2F6_uc002rbe.2_Nonsense_Mutation_p.E203*|E2F6_uc002rbf.2_Nonsense_Mutation_p.E246*|E2F6_uc002rbg.2_Nonsense_Mutation_p.E203*|E2F6_uc002rbi.2_Nonsense_Mutation_p.E203*|E2F6_uc010yjl.1_RNA	p.E278*	NM_198256	NP_937987	O75461	E2F6_HUMAN		Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)	7	1124	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		278			Transcription repression.		A8K2Z8|G5E936|O60544|Q53QY9|Q6Q9Z6|Q7Z2H6	Nonsense_Mutation	SNP	ENST00000381525.3	37	c.832G>T	CCDS1680.2	.	.	.	.	.	.	.	.	.	.	C	38	6.655336	0.97739	.	.	ENSG00000169016	ENST00000381525;ENST00000307236;ENST00000542100;ENST00000546212	.	.	.	4.63	3.73	0.42828	.	0.308493	0.29737	N	0.011327	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-18.646	7.9895	0.30231	0.0:0.8864:0.0:0.1136	.	.	.	.	X	278;246;203;203	.	ENSP00000302159:E246X	E	-	1	0	E2F6	11504068	0.012000	0.17670	0.875000	0.34327	0.994000	0.84299	0.988000	0.29616	1.277000	0.44412	0.655000	0.94253	GAA		0.363	E2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207101.2		NM_001952		12	34	1	0	0.0931896	1	0.093521	12	34		
MFSD2B	388931	broad.mit.edu	37	2	24239769	24239769	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:24239769G>A	ENST00000406420.3	+	4	418	c.402G>A	c.(400-402)ctG>ctA	p.L134L	MFSD2B_ENST00000338315.4_Silent_p.L134L	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	134					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						TGTGGTTCCTGCCCCCCTTCA	0.672																																						uc002reo.1		NaN																	0				ovary(2)	2						c.(400-402)CTG>CTA		major facilitator superfamily domain containing							59.0	66.0	64.0					2																	24239769		2056	4179	6235	SO:0001819	synonymous_variant	388931				transport	integral to membrane		g.chr2:24239769G>A		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.402G>A	2.37:g.24239769G>A						MFSD2B_uc010exz.1_RNA	p.L134L	NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN			4	416	+			134					B5MC32	Silent	SNP	ENST00000406420.3	37	c.402G>A	CCDS46228.1																																																																																				0.672	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1		NM_001080473		20	78	0	0	0	1	0	20	78		
ITSN2	50618	broad.mit.edu	37	2	24524067	24524067	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:24524067G>A	ENST00000355123.4	-	11	1480	c.1037C>T	c.(1036-1038)tCa>tTa	p.S346L	ITSN2_ENST00000361999.3_Missense_Mutation_p.S346L|ITSN2_ENST00000406921.3_Missense_Mutation_p.S346L	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	346					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCTGATATGAAGGCAGAGT	0.338																																						uc002rfe.2		NaN																	0				kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(1036-1038)TCA>TTA		intersectin 2 isoform 1							95.0	93.0	94.0					2																	24524067		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24524067G>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1037C>T	2.37:g.24524067G>A	ENSP00000347244:p.Ser346Leu					ITSN2_uc002rff.2_Missense_Mutation_p.S346L|ITSN2_uc002rfg.2_Missense_Mutation_p.S346L|ITSN2_uc010eyd.2_Missense_Mutation_p.S371L	p.S346L	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			11	1295	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		346					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.1037C>T	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166920	0.38217	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	T;T;T;T;T	0.61040	0.15;0.14;0.15;0.57;1.0	5.36	4.43	0.53597	.	0.000000	0.30193	U	0.010186	T	0.34542	0.0901	N	0.04508	-0.205	0.38641	D	0.951615	B;B;B;B	0.26363	0.147;0.147;0.147;0.125	B;B;B;B	0.32149	0.141;0.13;0.13;0.118	T	0.28870	-1.0030	10	0.29301	T	0.29	.	9.9965	0.41902	0.0762:0.1393:0.7845:0.0	.	346;346;346;346	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	L	346;346;346;370;346;371	ENSP00000354561:S346L;ENSP00000347244:S346L;ENSP00000370250:S346L;ENSP00000384499:S346L;ENSP00000391224:S371L	ENSP00000347244:S346L	S	-	2	0	ITSN2	24377571	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.006000	0.57083	2.685000	0.91497	0.491000	0.48974	TCA		0.338	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2		NM_006277		17	35	0	0	0	1	0	17	35		
NCOA1	8648	broad.mit.edu	37	2	24929894	24929894	+	Missense_Mutation	SNP	G	G	A	rs144856306		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:24929894G>A	ENST00000406961.1	+	13	2207	c.1555G>A	c.(1555-1557)Gtt>Att	p.V519I	NCOA1_ENST00000405141.1_Missense_Mutation_p.V519I|NCOA1_ENST00000348332.3_Missense_Mutation_p.V519I|NCOA1_ENST00000407230.1_Missense_Mutation_p.V368I|NCOA1_ENST00000395856.3_Missense_Mutation_p.V519I|NCOA1_ENST00000538539.1_Missense_Mutation_p.V519I|NCOA1_ENST00000288599.5_Missense_Mutation_p.V519I			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	519	Interaction with STAT3.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCTCTCCCGTTGGCATGAC	0.423			T	PAX3	alveolar rhadomyosarcoma																																	uc002rfk.2		NaN		Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(1555-1557)GTT>ATT		nuclear receptor coactivator 1 isoform 1		G	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	91.0	95.0	94.0		1555,1555,1555	3.4	0.8	2	dbSNP_134	94	1,8599	2.2+/-6.3	0,1,4299	no	missense,missense,missense	NCOA1	NM_003743.4,NM_147223.2,NM_147233.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	519/1442,519/1400,519/1441	24929894	1,13005	2203	4300	6503	SO:0001583	missense	8648							g.chr2:24929894G>A	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.1555G>A	2.37:g.24929894G>A	ENSP00000385216:p.Val519Ile					NCOA1_uc010eye.2_Missense_Mutation_p.V519I|NCOA1_uc002rfi.2_Missense_Mutation_p.V368I|NCOA1_uc002rfj.2_Missense_Mutation_p.V519I|NCOA1_uc002rfl.2_Missense_Mutation_p.V519I	p.V519I	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			11	1813	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		519			Interaction with STAT3.|Ser-rich.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.1555G>A	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.476547	0.26511	0.0	1.16E-4	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.02216	4.51;4.51;4.39;4.51;4.51;4.51;4.51	5.23	3.4	0.38934	.	0.241956	0.40640	N	0.001049	T	0.02304	0.0071	L	0.31752	0.955	0.33550	D	0.595996	B;B;B;B	0.19331	0.035;0.002;0.035;0.0	B;B;B;B	0.13407	0.009;0.002;0.009;0.0	T	0.24728	-1.0152	10	0.41790	T	0.15	.	12.2279	0.54472	0.1467:0.0:0.8533:0.0	.	519;519;519;368	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	I	519;519;368;519;519;519;519	ENSP00000385216:V519I;ENSP00000385097:V519I;ENSP00000385195:V368I;ENSP00000444039:V519I;ENSP00000320940:V519I;ENSP00000288599:V519I;ENSP00000379197:V519I	ENSP00000288599:V519I	V	+	1	0	NCOA1	24783398	0.998000	0.40836	0.842000	0.33263	0.869000	0.49853	2.863000	0.48396	1.342000	0.45619	0.655000	0.94253	GTT		0.423	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3		NM_147223		22	68	0	0	0	1	0	22	68		
DNMT3A	1788	broad.mit.edu	37	2	25457247	25457247	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:25457247C>T	ENST00000264709.3	-	23	2977	c.2640G>A	c.(2638-2640)atG>atA	p.M880I	DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000380746.4_Missense_Mutation_p.M691I|DNMT3A_ENST00000402667.1_Missense_Mutation_p.M657I|DNMT3A_ENST00000321117.5_Missense_Mutation_p.M880I	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	880	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAAGCGGCTCATGTTGGAGA	0.597			"""Mis, F, N, S"""		AML																																	uc002rgc.2		NaN		Rec	yes		2	2p23	1788	Mis|F|N|S	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140						c.(2638-2640)ATG>ATA		DNA cytosine methyltransferase 3 alpha isoform							53.0	49.0	50.0					2																	25457247		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25457247C>T		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2640G>A	2.37:g.25457247C>T	ENSP00000264709:p.Met880Ile					DNMT3A_uc002rgd.2_Missense_Mutation_p.M880I|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.M691I	p.M880I	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN			23	2897	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		880					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.2640G>A	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.453218	0.84209	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.97353	0.9134	L	0.37561	1.115	0.80722	D	1	B;P	0.49358	0.374;0.923	B;D	0.64410	0.192;0.925	D	0.97705	1.0187	10	0.54805	T	0.06	-11.9617	18.6564	0.91455	0.0:1.0:0.0:0.0	.	880;691	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	I	691;880;880;657	ENSP00000370122:M691I;ENSP00000324375:M880I;ENSP00000264709:M880I;ENSP00000384237:M657I	ENSP00000264709:M880I	M	-	3	0	DNMT3A	25310751	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.077000	0.71275	2.745000	0.94114	0.561000	0.74099	ATG		0.597	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1		NM_022552		28	58	0	0	0	1	0	28	58		
IFT172	26160	broad.mit.edu	37	2	27676285	27676285	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:27676285C>G	ENST00000260570.3	-	35	4020	c.3917G>C	c.(3916-3918)gGa>gCa	p.G1306A		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1306					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GCCGCTGTTTCCAGAGTCTCG	0.587																																						uc002rku.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(3916-3918)GGA>GCA		selective LIM binding factor homolog							81.0	77.0	79.0					2																	27676285		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27676285C>G	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.3917G>C	2.37:g.27676285C>G	ENSP00000260570:p.Gly1306Ala					IFT172_uc010ezb.2_RNA	p.G1306A	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			35	3968	-	Acute lymphoblastic leukemia(172;0.155)		1306			TPR 10.		A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.3917G>C	CCDS1755.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.654|9.654	1.142391|1.142391	0.21205|0.21205	.|.	.|.	ENSG00000138002|ENSG00000138002	ENST00000260570|ENST00000443889	D|.	0.82167|.	-1.58|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.339952|.	0.31554|.	N|.	0.007445|.	T|T	0.19565|0.19565	0.0470|0.0470	N|N	0.01048|0.01048	-1.04|-1.04	0.58432|0.58432	D|D	0.999996|0.999996	B|.	0.09022|.	0.002|.	B|.	0.09377|.	0.004|.	T|T	0.23868|0.23868	-1.0176|-1.0176	10|5	0.14656|.	T|.	0.56|.	-9.2326|-9.2326	10.9898|10.9898	0.47543|0.47543	0.0:0.9131:0.0:0.0869|0.0:0.9131:0.0:0.0869	.|.	1306|.	Q9UG01|.	IF172_HUMAN|.	A|C	1306|174	ENSP00000260570:G1306A|.	ENSP00000260570:G1306A|.	G|W	-|-	2|3	0|0	IFT172|IFT172	27529789|27529789	0.909000|0.909000	0.30893|0.30893	0.065000|0.065000	0.19835|0.19835	0.094000|0.094000	0.18550|0.18550	3.363000|3.363000	0.52321|0.52321	2.461000|2.461000	0.83175|0.83175	0.313000|0.313000	0.20887|0.20887	GGA|TGG		0.587	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2		NM_015662		19	89	0	0	0	1	0	19	89		
IFT172	26160	broad.mit.edu	37	2	27700949	27700949	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:27700949C>T	ENST00000260570.3	-	11	1183	c.1080G>A	c.(1078-1080)gtG>gtA	p.V360V	IFT172_ENST00000359466.6_Silent_p.V360V|RNU6-986P_ENST00000363133.1_RNA|IFT172_ENST00000416524.2_Silent_p.V339V	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	360					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CTAGGATTTTCACCTCTTCCA	0.493																																						uc002rku.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1078-1080)GTG>GTA		selective LIM binding factor homolog							263.0	228.0	240.0					2																	27700949		2203	4300	6503	SO:0001819	synonymous_variant	26160				cilium assembly	cilium	binding	g.chr2:27700949C>T	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1080G>A	2.37:g.27700949C>T						IFT172_uc002rkw.2_Silent_p.V360V|IFT172_uc010yls.1_Silent_p.V339V|IFT172_uc010ezc.2_Silent_p.V360V|IFT172_uc002rkv.2_Silent_p.V334V	p.V360V	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			11	1131	-	Acute lymphoblastic leukemia(172;0.155)		360					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	ENST00000260570.3	37	c.1080G>A	CCDS1755.1																																																																																				0.493	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2		NM_015662		55	147	0	0	0	1	0	55	147		
BIRC6	57448	broad.mit.edu	37	2	32620589	32620589	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:32620589C>G	ENST00000421745.2	+	6	1096	c.962C>G	c.(961-963)tCt>tGt	p.S321C		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	321					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCTGCCTCATCTGGAGATGAT	0.323																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(961-963)TCT>TGT		baculoviral IAP repeat-containing 6							187.0	176.0	180.0					2																	32620589		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32620589C>G	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.962C>G	2.37:g.32620589C>G	ENSP00000393596:p.Ser321Cys						p.S321C	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			6	1096	+	Acute lymphoblastic leukemia(172;0.155)		321			BIR.		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.962C>G	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030882	0.75504	.	.	ENSG00000115760	ENST00000421745	T	0.04015	3.73	5.4	5.4	0.78164	Baculoviral inhibition of apoptosis protein repeat (4);	0.236193	0.37136	N	0.002228	T	0.18467	0.0443	M	0.77103	2.36	0.47407	D	0.99941	D	0.63046	0.992	P	0.54499	0.754	T	0.00304	-1.1832	10	0.87932	D	0	.	19.16	0.93527	0.0:1.0:0.0:0.0	.	321	Q9NR09	BIRC6_HUMAN	C	321	ENSP00000393596:S321C	ENSP00000393596:S321C	S	+	2	0	BIRC6	32474093	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.847000	0.69451	2.526000	0.85167	0.591000	0.81541	TCT		0.323	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		35	83	0	0	0	1	0	35	83		
BIRC6	57448	broad.mit.edu	37	2	32678953	32678953	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:32678953C>G	ENST00000421745.2	+	23	4830	c.4696C>G	c.(4696-4698)Ctg>Gtg	p.L1566V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1566					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGTTGAACCTCTGCACTTTAC	0.383																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(4696-4698)CTG>GTG		baculoviral IAP repeat-containing 6							188.0	170.0	176.0					2																	32678953		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32678953C>G	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.4696C>G	2.37:g.32678953C>G	ENSP00000393596:p.Leu1566Val						p.L1566V	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			23	4830	+	Acute lymphoblastic leukemia(172;0.155)		1566					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.4696C>G	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735168	0.69189	.	.	ENSG00000115760	ENST00000421745	D	0.91011	-2.77	5.57	4.7	0.59300	.	0.000000	0.64402	D	0.000007	D	0.93903	0.8049	M	0.74467	2.265	0.53688	D	0.999974	D	0.63880	0.993	D	0.70016	0.967	D	0.93027	0.6445	10	0.42905	T	0.14	.	10.4908	0.44750	0.0:0.8518:0.0:0.1482	.	1566	Q9NR09	BIRC6_HUMAN	V	1566	ENSP00000393596:L1566V	ENSP00000393596:L1566V	L	+	1	2	BIRC6	32532457	1.000000	0.71417	0.929000	0.37066	0.977000	0.68977	3.267000	0.51577	1.348000	0.45733	0.585000	0.79938	CTG		0.383	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		24	59	0	0	0	1	0	24	59		
STRN	6801	broad.mit.edu	37	2	37113903	37113903	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:37113903T>A	ENST00000263918.4	-	8	1006	c.998A>T	c.(997-999)aAg>aTg	p.K333M	STRN_ENST00000379213.2_Intron	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	333					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GTATTGTTCCTTGAGTTTGGT	0.403																																						uc002rpn.2		NaN																	0				skin(1)	1						c.(997-999)AAG>ATG		striatin, calmodulin binding protein							228.0	237.0	234.0					2																	37113903		2203	4300	6503	SO:0001583	missense	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37113903T>A	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.998A>T	2.37:g.37113903T>A	ENSP00000263918:p.Lys333Met					STRN_uc010ezx.2_Intron	p.K333M	NM_003162	NP_003153	O43815	STRN_HUMAN			8	1007	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	333					Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	37	c.998A>T	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.539227	0.85917	.	.	ENSG00000115808	ENST00000263918;ENST00000538092	T	0.70399	-0.48	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.82486	0.5047	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	D	0.83790	0.0230	10	0.59425	D	0.04	-12.71	16.1591	0.81686	0.0:0.0:0.0:1.0	.	333	O43815	STRN_HUMAN	M	333;308	ENSP00000263918:K333M	ENSP00000263918:K333M	K	-	2	0	STRN	36967407	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.695000	0.84257	2.215000	0.71742	0.533000	0.62120	AAG		0.403	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1				20	76	0	0	0	1	0	20	76		
CEBPZ	10153	broad.mit.edu	37	2	37458641	37458641	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:37458641C>G	ENST00000234170.5	-	1	215	c.70G>C	c.(70-72)Gat>Cat	p.D24H	NDUFAF7_ENST00000336237.6_5'Flank|NDUFAF7_ENST00000002125.4_5'Flank	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	24					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|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 positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TCGTCCGGATCTTCTACTGCC	0.602																																						uc002rpz.2		NaN																	0				pancreas(1)	1						c.(70-72)GAT>CAT		CCAAT/enhancer binding protein zeta							52.0	57.0	56.0					2																	37458641		2203	4300	6503	SO:0001583	missense	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37458641C>G	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.70G>C	2.37:g.37458641C>G	ENSP00000234170:p.Asp24His					C2orf56_uc010ynj.1_5'Flank|C2orf56_uc002rqa.3_5'Flank|C2orf56_uc002rqc.3_5'Flank|C2orf56_uc010ynk.1_5'Flank|C2orf56_uc010ynl.1_5'Flank	p.D24H	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN			1	100	-		all_hematologic(82;0.21)	24					Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	c.70G>C	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466477	0.63625	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	T	0.02525	4.26	5.69	5.69	0.88448	.	0.532223	0.20138	N	0.098460	T	0.04588	0.0125	N	0.24115	0.695	0.40539	D	0.981008	D	0.62365	0.991	P	0.52710	0.707	T	0.44467	-0.9326	10	0.87932	D	0	.	9.2736	0.37686	0.0:0.8734:0.0:0.1266	.	24	Q03701	CEBPZ_HUMAN	H	24	ENSP00000234170:D24H	ENSP00000234170:D24H	D	-	1	0	CEBPZ	37312145	0.978000	0.34361	0.884000	0.34674	0.193000	0.23685	5.137000	0.64789	2.694000	0.91930	0.650000	0.86243	GAT		0.602	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2		NM_005760		34	103	0	0	0	1	0	34	103		
TMEM178A	130733	broad.mit.edu	37	2	39893156	39893156	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:39893156C>G	ENST00000281961.2	+	1	98	c.42C>G	c.(40-42)ctC>ctG	p.L14L	AC007246.3_ENST00000415640.1_RNA|TMEM178A_ENST00000482239.1_Intron	NM_152390.2	NP_689603.2	Q8NBL3	T178A_HUMAN	transmembrane protein 178A	14						integral component of membrane (GO:0016021)											GCCTCGGCCTCAGCCTGTGCT	0.741																																						uc002rrt.2		NaN																	0					0						c.(40-42)CTC>CTG		transmembrane protein 178 precursor							7.0	9.0	9.0					2																	39893156		1998	4128	6126	SO:0001819	synonymous_variant	130733					integral to membrane		g.chr2:39893156C>G	BC029530	CCDS1804.1	2p22.1	2012-06-29	2012-06-29	2012-06-29	ENSG00000152154	ENSG00000152154			28517	protein-coding gene	gene with protein product			"""transmembrane protein 178"""	TMEM178		12975309	Standard	NM_001167959		Approved	MGC33926	uc002rrt.3	Q8NBL3	OTTHUMG00000128591	ENST00000281961.2:c.42C>G	2.37:g.39893156C>G						TMEM178_uc010fam.1_Silent_p.L14L	p.L14L	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN			1	67	+		all_hematologic(82;0.248)	14					Q6UWI6|Q8N6N4	Silent	SNP	ENST00000281961.2	37	c.42C>G	CCDS1804.1																																																																																				0.741	TMEM178A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250445.2		NM_152390		6	19	0	0	0	1	0	6	19		
PLEKHH2	130271	broad.mit.edu	37	2	43924477	43924477	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:43924477G>A	ENST00000282406.4	+	7	780	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	224					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)			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)				TGAGTTCACTGAAGGAAAAGA	0.358																																						uc010yny.1		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(670-672)GAA>AAA		pleckstrin homology domain containing, family H							73.0	71.0	71.0					2																	43924477		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43924477G>A	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.670G>A	2.37:g.43924477G>A	ENSP00000282406:p.Glu224Lys					PLEKHH2_uc002rte.3_Missense_Mutation_p.E224K|PLEKHH2_uc002rtf.3_Missense_Mutation_p.E223K	p.E224K	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			7	753	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	224					Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.670G>A	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657994	0.29425	.	.	ENSG00000152527	ENST00000282406	T	0.46819	0.86	5.14	3.31	0.37934	.	0.673286	0.14595	N	0.310009	T	0.34337	0.0894	L	0.40543	1.245	0.23113	N	0.998272	B;B	0.06786	0.0;0.001	B;B	0.08055	0.0;0.003	T	0.21930	-1.0231	10	0.29301	T	0.29	-3.6012	5.4929	0.16787	0.0754:0.1417:0.6361:0.1469	.	224;224	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	K	224	ENSP00000282406:E224K	ENSP00000282406:E224K	E	+	1	0	PLEKHH2	43777981	0.993000	0.37304	0.013000	0.15412	0.931000	0.56810	2.276000	0.43408	0.540000	0.28808	0.650000	0.86243	GAA		0.358	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1		NM_172069		15	44	0	0	0	1	0	15	44		
ABCG5	64240	broad.mit.edu	37	2	44050022	44050022	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:44050022C>G	ENST00000260645.1	-	10	1516	c.1377G>C	c.(1375-1377)caG>caC	p.Q459H	ABCG5_ENST00000405322.1_Missense_Mutation_p.Q288H|ABCG5_ENST00000543989.1_Missense_Mutation_p.Q64H	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	459	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TCTGCCACTTCTGGTAGAGGC	0.572																																						uc002rtn.2		NaN																	0				ovary(1)|skin(1)	2						c.(1375-1377)CAG>CAC		ATP-binding cassette sub-family G member 5							98.0	66.0	76.0					2																	44050022		2203	4300	6503	SO:0001583	missense	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44050022C>G	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.1377G>C	2.37:g.44050022C>G	ENSP00000260645:p.Gln459His					ABCG5_uc002rtm.2_Missense_Mutation_p.Q64H|ABCG5_uc002rto.2_Missense_Mutation_p.Q288H|ABCG5_uc002rtp.2_Missense_Mutation_p.Q64H	p.Q459H	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN			10	1517	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	459			ABC transmembrane type-2.|Cytoplasmic (Potential).		Q2T9G2|Q96QZ2|Q96QZ3	Missense_Mutation	SNP	ENST00000260645.1	37	c.1377G>C	CCDS1814.1	.	.	.	.	.	.	.	.	.	.	c	11.92	1.784047	0.31593	.	.	ENSG00000138075	ENST00000260645;ENST00000405322;ENST00000543989	T;T;T	0.71222	-0.55;-0.55;-0.55	4.9	1.97	0.26223	ABC-2 type transporter (1);	0.570103	0.19892	N	0.103709	T	0.65523	0.2699	M	0.63428	1.95	0.32879	D	0.510305	B;B	0.19331	0.02;0.035	B;B	0.20384	0.016;0.029	T	0.65701	-0.6104	10	0.41790	T	0.15	.	11.1929	0.48696	0.1333:0.6094:0.2573:0.0	.	288;459	E7EX35;Q9H222	.;ABCG5_HUMAN	H	459;288;64	ENSP00000260645:Q459H;ENSP00000384513:Q288H;ENSP00000445107:Q64H	ENSP00000260645:Q459H	Q	-	3	2	ABCG5	43903526	1.000000	0.71417	0.991000	0.47740	0.974000	0.67602	1.034000	0.30204	0.202000	0.20498	0.558000	0.71614	CAG		0.572	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1		NM_022436		17	35	0	0	0	1	0	17	35		
SIX2	10736	broad.mit.edu	37	2	45236023	45236023	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:45236023G>C	ENST00000303077.6	-	1	546	c.227C>G	c.(226-228)tCg>tGg	p.S76W		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	76					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|kidney development (GO:0001822)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesenchymal stem cell proliferation (GO:0097168)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|middle ear morphogenesis (GO:0042474)|nephron development (GO:0072006)|nephron morphogenesis (GO:0072028)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus (GO:0006606)|regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTTGTGCGGCGAGAACTGGTG	0.627																																						uc002ruo.2		NaN																	0				pancreas(1)	1						c.(226-228)TCG>TGG		SIX homeobox 2							75.0	72.0	73.0					2																	45236023		2203	4300	6503	SO:0001583	missense	10736					nucleus	sequence-specific DNA binding transcription factor activity	g.chr2:45236023G>C	AF136939	CCDS1822.1	2p21	2011-06-20	2007-07-13		ENSG00000170577	ENSG00000170577		"""Homeoboxes / SINE class"""	10888	protein-coding gene	gene with protein product		604994	"""sine oculis homeobox (Drosophila) homolog 2"", ""sine oculis homeobox homolog 2 (Drosophila)"""				Standard	NM_016932		Approved		uc002ruo.3	Q9NPC8	OTTHUMG00000152421	ENST00000303077.6:c.227C>G	2.37:g.45236023G>C	ENSP00000304502:p.Ser76Trp					SIX2_uc002rup.2_Missense_Mutation_p.S76W	p.S76W	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN			1	520	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	76					Q9BXH7	Missense_Mutation	SNP	ENST00000303077.6	37	c.227C>G	CCDS1822.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368745	0.82463	.	.	ENSG00000170577	ENST00000303077	D	0.89875	-2.58	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	D	0.95411	0.8510	M	0.92649	3.33	0.80722	D	1	D;D	0.71674	0.998;0.998	D;P	0.65010	0.931;0.899	D	0.96761	0.9561	10	0.87932	D	0	-19.6998	16.9715	0.86301	0.0:0.0:1.0:0.0	.	76;76	Q8TBA2;Q9NPC8	.;SIX2_HUMAN	W	76	ENSP00000304502:S76W	ENSP00000304502:S76W	S	-	2	0	SIX2	45089527	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.759000	0.68785	2.081000	0.62600	0.462000	0.41574	TCG		0.627	SIX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326188.2				30	112	0	0	0	1	0	30	112		
EPAS1	2034	broad.mit.edu	37	2	46609643	46609643	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:46609643C>T	ENST00000263734.3	+	15	2877	c.2367C>T	c.(2365-2367)atC>atT	p.I789I		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	789					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)			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)			CATCTGCCATCAGTCCCGGGG	0.592																																						uc002ruv.2		NaN																	0				ovary(1)|skin(1)	2						c.(2365-2367)ATC>ATT		endothelial PAS domain protein 1							95.0	98.0	97.0					2																	46609643		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:46609643C>T	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.2367C>T	2.37:g.46609643C>T						EPAS1_uc002ruw.2_Silent_p.I255I	p.I789I	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		15	2855	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	789					Q86VA2|Q99630	Silent	SNP	ENST00000263734.3	37	c.2367C>T	CCDS1825.1																																																																																				0.592	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2		NM_001430		36	137	0	0	0	1	0	36	137		
PSME4	23198	broad.mit.edu	37	2	54163918	54163918	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:54163918G>T	ENST00000404125.1	-	6	797	c.742C>A	c.(742-744)Ctc>Atc	p.L248I	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	248					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)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CATTGTGGGAGATTTTGCACT	0.353																																						uc002rxp.2		NaN																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(742-744)CTC>ATC		proteasome (prosome, macropain) activator							117.0	123.0	121.0					2																	54163918		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54163918G>T	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.742C>A	2.37:g.54163918G>T	ENSP00000384211:p.Leu248Ile					PSME4_uc010yop.1_Missense_Mutation_p.L134I|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron	p.L248I	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		6	798	-			248					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.742C>A	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814796	0.50527	.	.	ENSG00000068878	ENST00000404125	T	0.22539	1.95	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.18215	0.0437	L	0.51422	1.61	0.80722	D	1	P	0.46952	0.887	B	0.28709	0.093	T	0.08207	-1.0733	10	0.45353	T	0.12	.	18.54	0.91024	0.0:0.0:1.0:0.0	.	248	Q14997	PSME4_HUMAN	I	248	ENSP00000384211:L248I	ENSP00000374643:L248I	L	-	1	0	PSME4	54017422	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	9.609000	0.98334	2.385000	0.81259	0.305000	0.20034	CTC		0.353	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1		XM_040158		21	56	1	0	1.10513e-12	1	1.15994e-12	21	56		
SPTBN1	6711	broad.mit.edu	37	2	54856469	54856469	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:54856469C>T	ENST00000356805.4	+	14	2479	c.2198C>T	c.(2197-2199)tCg>tTg	p.S733L	SPTBN1_ENST00000333896.5_Missense_Mutation_p.S720L	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	733					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAGCAGCTCTCGGCCATTCGG	0.572																																						uc002rxu.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(2197-2199)TCG>TTG		spectrin, beta, non-erythrocytic 1 isoform 1							51.0	54.0	53.0					2																	54856469		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54856469C>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2198C>T	2.37:g.54856469C>T	ENSP00000349259:p.Ser733Leu					SPTBN1_uc002rxv.1_Missense_Mutation_p.S733L|SPTBN1_uc002rxx.2_Missense_Mutation_p.S720L	p.S733L	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		14	2447	+			733			Spectrin 5.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.2198C>T	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144270	0.77888	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.45668	0.89;0.89	5.83	5.83	0.93111	.	0.274240	0.36815	N	0.002387	T	0.44850	0.1313	L	0.48986	1.54	0.58432	D	0.999997	B;B	0.23540	0.012;0.087	B;B	0.26614	0.071;0.046	T	0.32851	-0.9891	10	0.62326	D	0.03	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	720;733	Q01082-3;Q01082	.;SPTB2_HUMAN	L	733;720	ENSP00000349259:S733L;ENSP00000334156:S720L	ENSP00000334156:S720L	S	+	2	0	SPTBN1	54709973	0.993000	0.37304	0.955000	0.39395	0.865000	0.49528	5.981000	0.70524	2.769000	0.95229	0.655000	0.94253	TCG		0.572	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3				31	96	0	0	0	1	0	31	96		
CCDC88A	55704	broad.mit.edu	37	2	55523455	55523455	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:55523455C>T	ENST00000436346.1	-	30	5871	c.5030G>A	c.(5029-5031)gGa>gAa	p.G1677E	CCDC88A_ENST00000336838.6_Missense_Mutation_p.G1676E|CCDC88A_ENST00000422883.2_Missense_Mutation_p.G178E|CCDC88A_ENST00000413716.2_Missense_Mutation_p.G1676E|CCDC88A_ENST00000263630.8_Missense_Mutation_p.G1649E	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1677					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AACTTCACTTCCAGGGGAACC	0.398																																						uc002ryv.2		NaN																	0				ovary(2)|skin(2)	4						c.(5026-5028)GGA>GAA		coiled-coil domain containing 88A isoform 1							120.0	102.0	108.0					2																	55523455		2203	4300	6503	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55523455C>T	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.5030G>A	2.37:g.55523455C>T	ENSP00000410608:p.Gly1677Glu					CCDC88A_uc010yoz.1_Missense_Mutation_p.G1649E|CCDC88A_uc010ypa.1_Missense_Mutation_p.G1676E|CCDC88A_uc002ryt.2_5'UTR|CCDC88A_uc010fbw.2_Missense_Mutation_p.G178E|CCDC88A_uc002ryu.2_Missense_Mutation_p.G931E|CCDC88A_uc002rys.2_Missense_Mutation_p.G634E|CCDC88A_uc002ryw.2_Missense_Mutation_p.G960E|CCDC88A_uc010fby.1_Missense_Mutation_p.G528E	p.G1676E	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			30	5869	-			1677					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.5027G>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	16.70|16.70|16.70	3.194810|3.194810|3.194810	0.58017|0.58017|0.58017	.|.|.	.|.|.	ENSG00000115355|ENSG00000115355|ENSG00000115355	ENST00000444458|ENST00000336838;ENST00000263630;ENST00000436346;ENST00000422883;ENST00000412148;ENST00000413716;ENST00000426576|ENST00000456975	.|T;T;T;T;T;T|.	.|0.55413|.	.|1.64;2.41;1.86;0.52;1.72;0.71|.	4.99|4.99|4.99	4.99|4.99|4.99	0.66335|0.66335|0.66335	.|.|.	.|0.000000|.	.|0.47455|.	.|U|.	.|0.000236|.	T|T|.	0.75406|0.75406|.	0.3845|0.3845|.	M|M|M	0.69823|0.69823|0.69823	2.125|2.125|2.125	0.51482|0.51482|0.51482	D|D|D	0.999928|0.999928|0.999928	.|P;P;P;D;P;P;P|.	.|0.89917|.	.|0.955;0.763;0.933;1.0;0.955;0.804;0.763|.	.|P;B;B;D;P;P;B|.	.|0.91635|.	.|0.717;0.311;0.441;0.999;0.717;0.548;0.311|.	T|T|.	0.74976|0.74976|.	-0.3480|-0.3480|.	5|10|.	.|0.37606|.	.|T|.	.|0.19|.	-20.0878|-20.0878|-20.0878	18.6473|18.6473|18.6473	0.91415|0.91415|0.91415	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|1676;1649;1594;178;1677;1676;1648|.	.|B7ZM78;Q3V6T2-2;D6W5D1;B3KW94;Q3V6T2;Q3V6T2-3;Q3V6T2-4|.	.|.;.;.;.;GRDN_HUMAN;.;.|.	K|E|X	180|1676;1649;1677;178;694;1676;852|629	.|ENSP00000338728:G1676E;ENSP00000263630:G1649E;ENSP00000410608:G1677E;ENSP00000390012:G694E;ENSP00000404431:G1676E;ENSP00000405080:G852E|.	.|ENSP00000263630:G1649E|.	E|G|W	-|-|-	1|2|3	0|0|0	CCDC88A|CCDC88A|CCDC88A	55376959|55376959|55376959	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.906000|0.906000|0.906000	0.53458|0.53458|0.53458	5.169000|5.169000|5.169000	0.64984|0.64984|0.64984	2.471000|2.471000|2.471000	0.83476|0.83476|0.83476	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GAA|GGA|TGG		0.398	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding			NM_017571		16	54	0	0	0	1	0	16	54		
CCDC88A	55704	broad.mit.edu	37	2	55535955	55535955	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:55535955C>G	ENST00000436346.1	-	25	5218	c.4377G>C	c.(4375-4377)aaG>aaC	p.K1459N	CCDC88A_ENST00000336838.6_Missense_Mutation_p.K1458N|CCDC88A_ENST00000422883.2_Missense_Mutation_p.K82N|AC012358.8_ENST00000366287.4_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.K1458N|CCDC88A_ENST00000263630.8_Missense_Mutation_p.K1459N	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1459					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TGCTGCTTTTCTTGGTCCCCA	0.393																																						uc002ryv.2		NaN																	0				ovary(2)|skin(2)	4						c.(4372-4374)AAG>AAC		coiled-coil domain containing 88A isoform 1							80.0	81.0	81.0					2																	55535955		2203	4300	6503	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55535955C>G	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.4377G>C	2.37:g.55535955C>G	ENSP00000410608:p.Lys1459Asn					CCDC88A_uc010yoz.1_Missense_Mutation_p.K1459N|CCDC88A_uc010ypa.1_Missense_Mutation_p.K1458N|CCDC88A_uc010fbw.2_Missense_Mutation_p.K82N|CCDC88A_uc002ryu.2_Missense_Mutation_p.K741N|CCDC88A_uc002rys.2_Missense_Mutation_p.K444N|CCDC88A_uc002ryw.2_Missense_Mutation_p.K742N|CCDC88A_uc010fby.1_Missense_Mutation_p.K338N	p.K1458N	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			25	5216	-			1459					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.4374G>C		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	12.88|12.88|12.88	2.071813|2.071813|2.071813	0.36566|0.36566|0.36566	.|.|.	.|.|.	ENSG00000115355|ENSG00000115355|ENSG00000115355	ENST00000456975|ENST00000336838;ENST00000263630;ENST00000436346;ENST00000422883;ENST00000412148;ENST00000413716;ENST00000426576|ENST00000444458	.|T;T;T;T;T;T|.	.|0.46451|.	.|2.19;2.68;2.41;0.87;2.23;1.1|.	4.75|4.75|4.75	4.75|4.75|4.75	0.60458|0.60458|0.60458	.|.|.	.|0.000000|.	.|0.49916|.	.|U|.	.|0.000124|.	T|T|T	0.24084|0.24084|0.24084	0.0583|0.0583|0.0583	N|N|N	0.14661|0.14661|0.14661	0.345|0.345|0.345	0.24093|0.24093|0.24093	N|N|N	0.9959|0.9959|0.9959	.|B;P;P;D;B;P;P|.	.|0.71674|.	.|0.006;0.853;0.811;0.998;0.006;0.948;0.853|.	.|B;P;P;D;B;P;P|.	.|0.73380|.	.|0.005;0.584;0.46;0.98;0.005;0.628;0.584|.	T|T|T	0.13926|0.13926|0.13926	-1.0491|-1.0491|-1.0491	5|10|5	.|0.35671|.	.|T|.	.|0.21|.	-5.5452|-5.5452|-5.5452	9.6023|9.6023|9.6023	0.39612|0.39612|0.39612	0.0:0.8666:0.0:0.1334|0.0:0.8666:0.0:0.1334|0.0:0.8666:0.0:0.1334	.|.|.	.|1458;1459;1404;82;1459;1458;1458|.	.|B7ZM78;Q3V6T2-2;D6W5D1;B3KW94;Q3V6T2;Q3V6T2-3;Q3V6T2-4|.	.|.;.;.;.;GRDN_HUMAN;.;.|.	Q|N|T	440|1458;1459;1459;82;504;1458;634|84	.|ENSP00000338728:K1458N;ENSP00000263630:K1459N;ENSP00000410608:K1459N;ENSP00000390012:K504N;ENSP00000404431:K1458N;ENSP00000405080:K634N|.	.|ENSP00000263630:K1459N|.	E|K|R	-|-|-	1|3|2	0|2|0	CCDC88A|CCDC88A|CCDC88A	55389459|55389459|55389459	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.980000|0.980000|0.980000	0.70556|0.70556|0.70556	2.283000|2.283000|2.283000	0.43470|0.43470|0.43470	2.332000|2.332000|2.332000	0.79248|0.79248|0.79248	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GAA|AAG|AGA		0.393	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding			NM_017571		14	30	0	0	0	1	0	14	30		
UGP2	7360	broad.mit.edu	37	2	64112904	64112904	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:64112904G>C	ENST00000337130.5	+	6	1233	c.757G>C	c.(757-759)Gat>Cat	p.D253H	UGP2_ENST00000467648.2_Missense_Mutation_p.D242H|ACA59_ENST00000515966.1_RNA|UGP2_ENST00000445915.2_Missense_Mutation_p.D262H|UGP2_ENST00000394417.2_Missense_Mutation_p.D242H|UGP2_ENST00000487469.1_3'UTR	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	253					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						GTCTAACATAGATAATCTGGG	0.388																																						uc002scm.2		NaN																	0					0						c.(757-759)GAT>CAT		UDP-glucose pyrophosphorylase 2 isoform a							129.0	131.0	131.0					2																	64112904		2203	4300	6503	SO:0001583	missense	7360				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity	g.chr2:64112904G>C		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.757G>C	2.37:g.64112904G>C	ENSP00000338703:p.Asp253His					UGP2_uc002scl.2_Missense_Mutation_p.D242H|UGP2_uc010ypx.1_Missense_Mutation_p.D262H	p.D253H	NM_006759	NP_006750	Q16851	UGPA_HUMAN			6	1063	+			253				Magnesium (By similarity).	Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	ENST00000337130.5	37	c.757G>C	CCDS1875.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028335	0.93518	.	.	ENSG00000169764	ENST00000394417;ENST00000467648;ENST00000337130;ENST00000445915	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.74442	0.3717	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82404	-0.0474	10	0.87932	D	0	-10.5623	20.0545	0.97645	0.0:0.0:1.0:0.0	.	262;253	E7EUC7;Q16851	.;UGPA_HUMAN	H	242;242;253;262	ENSP00000377939:D242H;ENSP00000420793:D242H;ENSP00000338703:D253H;ENSP00000411803:D262H	ENSP00000338703:D253H	D	+	1	0	UGP2	63966408	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.748000	0.94277	0.655000	0.94253	GAT		0.388	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1		NM_006759		19	65	0	0	0	1	0	19	65		
DYSF	8291	broad.mit.edu	37	2	71883391	71883391	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:71883391G>C	ENST00000258104.3	+	42	4886	c.4609G>C	c.(4609-4611)Gaa>Caa	p.E1537Q	DYSF_ENST00000409366.1_Missense_Mutation_p.E1559Q|DYSF_ENST00000410041.1_Missense_Mutation_p.E1555Q|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Missense_Mutation_p.E1569Q|DYSF_ENST00000394120.2_Missense_Mutation_p.E1538Q|DYSF_ENST00000413539.2_Missense_Mutation_p.E1568Q|DYSF_ENST00000409744.1_Missense_Mutation_p.E1545Q|DYSF_ENST00000409582.3_Missense_Mutation_p.E1575Q|DYSF_ENST00000409762.1_Missense_Mutation_p.E1554Q|DYSF_ENST00000429174.2_Missense_Mutation_p.E1558Q|DYSF_ENST00000410020.3_Missense_Mutation_p.E1576Q	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1537					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGAGGAGACAGAAGATCCATC	0.507																																						uc002sie.2		NaN																	0				ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(4609-4611)GAA>CAA		dysferlin isoform 8							278.0	272.0	274.0					2																	71883391		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71883391G>C	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4609G>C	2.37:g.71883391G>C	ENSP00000258104:p.Glu1537Gln					DYSF_uc010feg.2_Missense_Mutation_p.E1568Q|DYSF_uc010feh.2_Missense_Mutation_p.E1544Q|DYSF_uc002sig.3_Missense_Mutation_p.E1523Q|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.E1558Q|DYSF_uc010fef.2_Missense_Mutation_p.E1575Q|DYSF_uc010fei.2_Missense_Mutation_p.E1554Q|DYSF_uc010fek.2_Missense_Mutation_p.E1555Q|DYSF_uc010fej.2_Missense_Mutation_p.E1545Q|DYSF_uc010fel.2_Missense_Mutation_p.E1524Q|DYSF_uc010feo.2_Missense_Mutation_p.E1569Q|DYSF_uc010fem.2_Missense_Mutation_p.E1559Q|DYSF_uc010fen.2_Missense_Mutation_p.E1576Q|DYSF_uc002sif.2_Missense_Mutation_p.E1538Q|DYSF_uc010yqy.1_Missense_Mutation_p.E418Q|DYSF_uc010yqz.1_Missense_Mutation_p.E298Q	p.E1537Q	NM_003494	NP_003485	O75923	DYSF_HUMAN			42	4985	+			1537			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.4609G>C	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513641	0.64522	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.82;-1.83;-1.84;-1.84;-1.84;-1.82;-1.83;-1.82;-1.84	5.39	5.39	0.77823	C2 calcium/lipid-binding domain, CaLB (1);	0.157375	0.56097	D	0.000030	D	0.88466	0.6444	M	0.62154	1.92	0.48571	D	0.999673	P;B;B;B;B;P;P;P;B;B;B;P;B;B;B	0.48694	0.914;0.144;0.38;0.144;0.144;0.519;0.519;0.519;0.112;0.144;0.205;0.564;0.083;0.144;0.089	P;B;B;B;B;P;P;P;B;B;B;P;B;B;B	0.53185	0.71;0.376;0.376;0.306;0.306;0.72;0.72;0.72;0.394;0.376;0.281;0.57;0.306;0.306;0.161	D	0.86965	0.2094	10	0.37606	T	0.19	-10.9151	16.7046	0.85368	0.0:0.0:1.0:0.0	.	301;1569;1576;1559;1524;1555;1545;1554;1544;1568;1575;1558;1523;1538;1537	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	Q	1568;1554;1575;1558;1537;1569;1538;1545;1559;1576;1555	ENSP00000407046:E1568Q;ENSP00000387137:E1554Q;ENSP00000386547:E1575Q;ENSP00000398305:E1558Q;ENSP00000258104:E1537Q;ENSP00000386683:E1569Q;ENSP00000377678:E1538Q;ENSP00000386285:E1545Q;ENSP00000386512:E1559Q;ENSP00000386881:E1576Q;ENSP00000386617:E1555Q	ENSP00000258104:E1537Q	E	+	1	0	DYSF	71736899	1.000000	0.71417	0.524000	0.27887	0.709000	0.40893	9.524000	0.98036	2.804000	0.96469	0.655000	0.94253	GAA		0.507	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3		NM_003494		77	263	0	0	0	1	0	77	263		
MAT2A	4144	broad.mit.edu	37	2	85768794	85768794	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:85768794G>C	ENST00000306434.3	+	4	454	c.331G>C	c.(331-333)Gag>Cag	p.E111Q	MAT2A_ENST00000409017.1_Missense_Mutation_p.E48Q|MAT2A_ENST00000490878.1_3'UTR	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	111					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GGTAGCCTTGGAGCAACAGTC	0.408																																						uc002spr.2		NaN																	0					0						c.(331-333)GAG>CAG		methionine adenosyltransferase II, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						98.0	92.0	94.0					2																	85768794		2203	4300	6503	SO:0001583	missense	4144				methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr2:85768794G>C		CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.331G>C	2.37:g.85768794G>C	ENSP00000303147:p.Glu111Gln					MAT2A_uc010ysr.1_Missense_Mutation_p.E111Q|MAT2A_uc010fgk.2_Missense_Mutation_p.E85Q|MAT2A_uc010fgl.2_Missense_Mutation_p.E48Q|MAT2A_uc010fgm.1_Missense_Mutation_p.E48Q	p.E111Q	NM_005911	NP_005902	P31153	METK2_HUMAN			4	454	+			111					A8K511|B4DN45|D6W5L1|Q53SP5	Missense_Mutation	SNP	ENST00000306434.3	37	c.331G>C	CCDS1977.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442526	0.63067	.	.	ENSG00000168906	ENST00000306434;ENST00000409017	D;D	0.83075	-1.68;-1.68	5.41	5.41	0.78517	S-adenosylmethionine synthetase, N-terminal (1);S-adenosylmethionine synthetase superfamily (1);	0.000000	0.85682	D	0.000000	D	0.82838	0.5124	M	0.66378	2.025	0.80722	D	1	P;B;B	0.38148	0.62;0.22;0.22	B;B;B	0.37943	0.261;0.18;0.18	D	0.84909	0.0847	10	0.66056	D	0.02	-35.8326	16.7117	0.85387	0.0:0.0:1.0:0.0	.	48;111;111	B4DN45;B4DEX8;P31153	.;.;METK2_HUMAN	Q	111;48	ENSP00000303147:E111Q;ENSP00000386353:E48Q	ENSP00000303147:E111Q	E	+	1	0	MAT2A	85622305	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	7.649000	0.83500	2.538000	0.85594	0.563000	0.77884	GAG		0.408	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252491.2		NM_005911		12	40	0	0	0	1	0	12	40		
MAT2A	4144	broad.mit.edu	37	2	85769496	85769496	+	Splice_Site	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:85769496G>T	ENST00000306434.3	+	6	891	c.768G>T	c.(766-768)caG>caT	p.Q256H	MAT2A_ENST00000409017.1_Splice_Site_p.Q193H	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	256					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GTGGGCCTCAGGTAATGTCAT	0.383																																						uc002spr.2		NaN																	0					0						c.(766-768)CAG>CAT		methionine adenosyltransferase II, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						44.0	39.0	41.0					2																	85769496		2203	4300	6503	SO:0001630	splice_region_variant	4144				methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr2:85769496G>T		CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.768+1G>T	2.37:g.85769496G>T						MAT2A_uc010ysr.1_Missense_Mutation_p.Q256H|MAT2A_uc010fgk.2_Missense_Mutation_p.Q230H|MAT2A_uc010fgl.2_Missense_Mutation_p.Q193H|MAT2A_uc010fgm.1_3'UTR	p.Q256H	NM_005911	NP_005902	P31153	METK2_HUMAN			6	891	+			256					A8K511|B4DN45|D6W5L1|Q53SP5	Missense_Mutation	SNP	ENST00000306434.3	37	c.768G>T	CCDS1977.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618985	0.66787	.	.	ENSG00000168906	ENST00000306434;ENST00000409017	D;D	0.97870	-4.58;-4.58	5.61	5.61	0.85477	S-adenosylmethionine synthetase, C-terminal (1);S-adenosylmethionine synthetase superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97263	0.9105	L	0.31420	0.93	0.80722	D	1	D;D	0.61697	0.983;0.99	D;D	0.64237	0.923;0.923	D	0.96725	0.9535	10	0.32370	T	0.25	-7.6177	17.1282	0.86720	0.0:0.0:1.0:0.0	.	256;256	B4DEX8;P31153	.;METK2_HUMAN	H	256;193	ENSP00000303147:Q256H;ENSP00000386353:Q193H	ENSP00000303147:Q256H	Q	+	3	2	MAT2A	85623007	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.205000	0.95048	2.643000	0.89663	0.462000	0.41574	CAG		0.383	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252491.2		NM_005911	Missense_Mutation	5	29	1	0	0.014758	1	0.0148545	5	29		
MAT2A	4144	broad.mit.edu	37	2	85770096	85770096	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:85770096G>A	ENST00000306434.3	+	8	1147	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	MAT2A_ENST00000409017.1_Missense_Mutation_p.E279K	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	342					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TCAGAAGAGTGAGAGAGAGCT	0.403																																						uc002spr.2		NaN																	0					0						c.(1024-1026)GAG>AAG		methionine adenosyltransferase II, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						153.0	155.0	154.0					2																	85770096		2203	4300	6503	SO:0001583	missense	4144				methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr2:85770096G>A		CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.1024G>A	2.37:g.85770096G>A	ENSP00000303147:p.Glu342Lys					MAT2A_uc010ysr.1_Missense_Mutation_p.E342K|MAT2A_uc010fgk.2_Missense_Mutation_p.E316K|MAT2A_uc010fgl.2_Missense_Mutation_p.E279K	p.E342K	NM_005911	NP_005902	P31153	METK2_HUMAN			8	1147	+			342					A8K511|B4DN45|D6W5L1|Q53SP5	Missense_Mutation	SNP	ENST00000306434.3	37	c.1024G>A	CCDS1977.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448858	0.84101	.	.	ENSG00000168906	ENST00000306434;ENST00000424323;ENST00000409017	D;D	0.97906	-4.6;-4.6	5.8	5.8	0.92144	S-adenosylmethionine synthetase, C-terminal (1);S-adenosylmethionine synthetase superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96759	0.8942	L	0.55017	1.72	0.80722	D	1	B;B	0.30709	0.013;0.291	B;B	0.36030	0.032;0.216	D	0.95763	0.8802	10	0.66056	D	0.02	-13.5779	17.546	0.87861	0.0:0.0:1.0:0.0	.	342;342	B4DEX8;P31153	.;METK2_HUMAN	K	342;123;279	ENSP00000303147:E342K;ENSP00000386353:E279K	ENSP00000303147:E342K	E	+	1	0	MAT2A	85623607	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.397000	0.97276	2.737000	0.93849	0.563000	0.77884	GAG		0.403	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252491.2		NM_005911		15	62	0	0	0	1	0	15	62		
MAT2A	4144	broad.mit.edu	37	2	85770102	85770102	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:85770102G>C	ENST00000306434.3	+	8	1153	c.1030G>C	c.(1030-1032)Gag>Cag	p.E344Q	MAT2A_ENST00000409017.1_Missense_Mutation_p.E281Q	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	344					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GAGTGAGAGAGAGCTATTAGA	0.408																																						uc002spr.2		NaN																	0					0						c.(1030-1032)GAG>CAG		methionine adenosyltransferase II, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						148.0	149.0	149.0					2																	85770102		2203	4300	6503	SO:0001583	missense	4144				methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr2:85770102G>C		CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.1030G>C	2.37:g.85770102G>C	ENSP00000303147:p.Glu344Gln					MAT2A_uc010ysr.1_Missense_Mutation_p.E344Q|MAT2A_uc010fgk.2_Missense_Mutation_p.E318Q|MAT2A_uc010fgl.2_Missense_Mutation_p.E281Q	p.E344Q	NM_005911	NP_005902	P31153	METK2_HUMAN			8	1153	+			344					A8K511|B4DN45|D6W5L1|Q53SP5	Missense_Mutation	SNP	ENST00000306434.3	37	c.1030G>C	CCDS1977.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532174	0.64972	.	.	ENSG00000168906	ENST00000306434;ENST00000424323;ENST00000409017	D;D	0.97831	-4.56;-4.56	5.8	5.8	0.92144	S-adenosylmethionine synthetase, C-terminal (1);S-adenosylmethionine synthetase superfamily (1);	0.000000	0.85682	D	0.000000	D	0.95937	0.8677	L	0.42008	1.315	0.80722	D	1	B;B	0.24920	0.114;0.114	B;B	0.26517	0.048;0.07	D	0.93384	0.6746	10	0.46703	T	0.11	-14.2729	17.546	0.87861	0.0:0.0:1.0:0.0	.	344;344	B4DEX8;P31153	.;METK2_HUMAN	Q	344;125;281	ENSP00000303147:E344Q;ENSP00000386353:E281Q	ENSP00000303147:E344Q	E	+	1	0	MAT2A	85623613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.397000	0.97276	2.737000	0.93849	0.563000	0.77884	GAG		0.408	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252491.2		NM_005911		17	61	0	0	0	1	0	17	61		
MAT2A	4144	broad.mit.edu	37	2	85770125	85770125	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:85770125G>C	ENST00000306434.3	+	8	1176	c.1053G>C	c.(1051-1053)aaG>aaC	p.K351N	MAT2A_ENST00000409017.1_Missense_Mutation_p.K288N	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	351					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TTGTGAAGAAGAATTTCGATC	0.413																																						uc002spr.2		NaN																	0					0						c.(1051-1053)AAG>AAC		methionine adenosyltransferase II, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						122.0	124.0	123.0					2																	85770125		2203	4300	6503	SO:0001583	missense	4144				methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr2:85770125G>C		CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.1053G>C	2.37:g.85770125G>C	ENSP00000303147:p.Lys351Asn					MAT2A_uc010ysr.1_Missense_Mutation_p.K351N|MAT2A_uc010fgk.2_Missense_Mutation_p.K325N|MAT2A_uc010fgl.2_Missense_Mutation_p.K288N	p.K351N	NM_005911	NP_005902	P31153	METK2_HUMAN			8	1176	+			351					A8K511|B4DN45|D6W5L1|Q53SP5	Missense_Mutation	SNP	ENST00000306434.3	37	c.1053G>C	CCDS1977.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273943	0.40194	.	.	ENSG00000168906	ENST00000306434;ENST00000424323;ENST00000409017	D;D	0.97811	-4.55;-4.55	5.53	4.65	0.58169	S-adenosylmethionine synthetase, C-terminal (1);S-adenosylmethionine synthetase superfamily (1);	0.149392	0.64402	N	0.000014	D	0.95271	0.8466	L	0.48218	1.51	0.58432	D	0.999999	B;B	0.06786	0.001;0.0	B;B	0.12156	0.007;0.004	D	0.92724	0.6194	10	0.21540	T	0.41	-3.3562	13.7037	0.62624	0.0:0.0:0.8451:0.1548	.	351;351	B4DEX8;P31153	.;METK2_HUMAN	N	351;132;288	ENSP00000303147:K351N;ENSP00000386353:K288N	ENSP00000303147:K351N	K	+	3	2	MAT2A	85623636	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.168000	0.50801	1.299000	0.44798	0.563000	0.77884	AAG		0.413	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252491.2		NM_005911		16	60	0	0	0	1	0	16	60		
C2orf68	388969	broad.mit.edu	37	2	85836187	85836187	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:85836187C>T	ENST00000306336.5	-	4	426	c.382G>A	c.(382-384)Gat>Aat	p.D128N	C2orf68_ENST00000478626.1_5'Flank|USP39_ENST00000459775.1_Intron	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	128										breast(1)|central_nervous_system(1)|endometrium(1)	3						CCTGGGTCATCACCCTACGTG	0.552																																						uc002sqc.2		NaN																	0				central_nervous_system(1)	1						c.(382-384)GAT>AAT		hypothetical protein LOC388969							74.0	73.0	73.0					2																	85836187		2013	4195	6208	SO:0001583	missense	388969							g.chr2:85836187C>T		CCDS42704.1	2p11.2	2008-07-18			ENSG00000168887	ENSG00000168887			34353	protein-coding gene	gene with protein product							Standard	NM_001013649		Approved		uc002sqc.2	Q2NKX9	OTTHUMG00000153088	ENST00000306336.5:c.382G>A	2.37:g.85836187C>T	ENSP00000304410:p.Asp128Asn					USP39_uc002sqb.2_Intron	p.D128N	NM_001013649	NP_001013671	Q2NKX9	CB068_HUMAN			4	454	-			128					B4DT10|Q4G0J7|Q6ZVA6	Missense_Mutation	SNP	ENST00000306336.5	37	c.382G>A	CCDS42704.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481619	0.84747	.	.	ENSG00000168887	ENST00000306336	.	.	.	5.41	5.41	0.78517	.	1.609690	0.03730	N	0.253372	T	0.72534	0.3472	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.57063	-0.7875	9	0.72032	D	0.01	-8.3227	14.5675	0.68188	0.0:1.0:0.0:0.0	.	128	Q2NKX9	CB068_HUMAN	N	128	.	ENSP00000304410:D128N	D	-	1	0	C2orf68	85689698	0.992000	0.36948	0.984000	0.44739	0.879000	0.50718	3.111000	0.50360	2.826000	0.97356	0.655000	0.94253	GAT		0.552	C2orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329451.1		NM_001013649		17	45	0	0	0	1	0	17	45		
LMAN2L	81562	broad.mit.edu	37	2	97403767	97403767	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:97403767C>T	ENST00000264963.4	-	2	247	c.225G>A	c.(223-225)atG>atA	p.M75I	LMAN2L_ENST00000537039.1_Intron|LMAN2L_ENST00000377079.4_Missense_Mutation_p.M75I|LMAN2L_ENST00000534882.1_Intron|LMAN2L_ENST00000426463.2_5'UTR	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	75	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						TGGCATTGCCCATCAGATTCC	0.493																																						uc002swu.2		NaN																	0					0						c.(223-225)ATG>ATA		lectin, mannose-binding 2-like isoform 2							147.0	126.0	133.0					2																	97403767		2203	4300	6503	SO:0001583	missense	81562				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding	g.chr2:97403767C>T	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.225G>A	2.37:g.97403767C>T	ENSP00000264963:p.Met75Ile					LMAN2L_uc002swv.2_Missense_Mutation_p.M75I|LMAN2L_uc010yut.1_5'UTR|LMAN2L_uc010yuu.1_Intron|LMAN2L_uc010yuv.1_Intron|LMAN2L_uc010yuw.1_Intron|LMAN2L_uc002sww.2_5'UTR|LMAN2L_uc010yux.1_5'UTR	p.M75I	NM_030805	NP_110432	Q9H0V9	LMA2L_HUMAN			2	261	-			75			L-type lectin-like.|Lumenal (Potential).		B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Missense_Mutation	SNP	ENST00000264963.4	37	c.225G>A	CCDS2023.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.847528	0.51164	.	.	ENSG00000114988	ENST00000264963;ENST00000377079	T;T	0.61859	0.07;0.07	5.42	5.42	0.78866	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.124872	0.64402	D	0.000001	T	0.51126	0.1656	L	0.39397	1.21	0.80722	D	1	B;B	0.14438	0.003;0.01	B;B	0.22386	0.006;0.039	T	0.42582	-0.9443	10	0.20519	T	0.43	.	18.0053	0.89208	0.0:1.0:0.0:0.0	.	75;75	Q9H0V9-2;Q9H0V9	.;LMA2L_HUMAN	I	75	ENSP00000264963:M75I;ENSP00000366280:M75I	ENSP00000264963:M75I	M	-	3	0	LMAN2L	96767494	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.550000	0.67268	2.544000	0.85801	0.561000	0.74099	ATG		0.493	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1		NM_030805		16	24	0	0	0	1	0	16	24		
C2orf49	79074	broad.mit.edu	37	2	105954067	105954067	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:105954067G>A	ENST00000258457.2	+	1	252	c.23G>A	c.(22-24)cGc>cAc	p.R8H	C2orf49_ENST00000410049.1_Missense_Mutation_p.R8H|RP11-332H14.2_ENST00000610036.1_lincRNA|C2orf49_ENST00000437250.2_Missense_Mutation_p.R46H			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49	8					embryonic morphogenesis (GO:0048598)	tRNA-splicing ligase complex (GO:0072669)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						GTGGGCGGTCGCAGCTGCACG	0.672																																						uc002tcs.1		NaN																	0					0						c.(22-24)CGC>CAC		ashwin							26.0	28.0	27.0					2																	105954067		2202	4298	6500	SO:0001583	missense	79074					tRNA-splicing ligase complex		g.chr2:105954067G>A	BC001310	CCDS2068.1, CCDS74550.1	2q12.2	2009-04-22			ENSG00000135974	ENSG00000135974			28772	protein-coding gene	gene with protein product	"""ashwin"""					12477932	Standard	NM_001286537		Approved	MGC5509, asw	uc002tcs.1	Q9BVC5	OTTHUMG00000130808	ENST00000258457.2:c.23G>A	2.37:g.105954067G>A	ENSP00000258457:p.Arg8His					C2orf49_uc010fjd.1_Missense_Mutation_p.R8H	p.R8H	NM_024093	NP_076998	Q9BVC5	ASHWN_HUMAN			1	55	+			8					B3KXN3|B4E2G9	Missense_Mutation	SNP	ENST00000258457.2	37	c.23G>A	CCDS2068.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869694	0.91587	.	.	ENSG00000135974	ENST00000258457;ENST00000437250;ENST00000410049	T;T;T	0.48201	0.82;0.82;0.82	5.44	5.44	0.79542	.	0.244700	0.36444	N	0.002594	T	0.53802	0.1819	L	0.31294	0.92	0.37346	D	0.91058	D;D	0.71674	0.994;0.998	P;P	0.60949	0.809;0.881	T	0.51973	-0.8637	10	0.30078	T	0.28	-4.4815	17.6276	0.88097	0.0:0.0:1.0:0.0	.	46;8	B4E2G9;Q9BVC5	.;ASHWN_HUMAN	H	8;46;8	ENSP00000258457:R8H;ENSP00000400208:R46H;ENSP00000386361:R8H	ENSP00000258457:R8H	R	+	2	0	C2orf49	105320499	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.361000	0.44160	2.828000	0.97474	0.655000	0.94253	CGC		0.672	C2orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253353.2		NM_024093		11	28	0	0	0	1	0	11	28		
RANBP2	5903	broad.mit.edu	37	2	109381763	109381763	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:109381763G>A	ENST00000283195.6	+	20	4894	c.4768G>A	c.(4768-4770)Gag>Aag	p.E1590K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1590					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)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGGTACTTCAGAGACAAGCAA	0.453																																						uc002tem.3		NaN																RANBP2/ALK(16)	0				soft_tissue(16)|lung(1)|pancreas(1)	18						c.(4768-4770)GAG>AAG		RAN binding protein 2							145.0	147.0	146.0					2																	109381763		2203	4300	6503	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109381763G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.4768G>A	2.37:g.109381763G>A	ENSP00000283195:p.Glu1590Lys						p.E1590K	NM_006267	NP_006258	P49792	RBP2_HUMAN			20	4894	+			1590					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.4768G>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	g	17.03	3.284515	0.59867	.	.	ENSG00000153201	ENST00000283195	T	0.26067	1.76	4.35	4.35	0.52113	.	.	.	.	.	T	0.17323	0.0416	L	0.32530	0.975	0.23568	N	0.997391	B	0.27229	0.172	B	0.21917	0.037	T	0.14839	-1.0458	9	0.12103	T	0.63	-14.6294	10.0904	0.42443	0.0:0.1457:0.7047:0.1496	.	1590	P49792	RBP2_HUMAN	K	1590	ENSP00000283195:E1590K	ENSP00000283195:E1590K	E	+	1	0	RANBP2	108748195	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.050000	0.57404	2.344000	0.79699	0.651000	0.88453	GAG		0.453	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1		NM_006267		43	125	0	0	0	1	0	43	125		
CCDC138	165055	broad.mit.edu	37	2	109411132	109411132	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:109411132C>G	ENST00000295124.4	+	5	591	c.531C>G	c.(529-531)atC>atG	p.I177M	CCDC138_ENST00000412964.2_Missense_Mutation_p.I177M	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	177										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						CACATCAGATCAGTCAGATAT	0.373																																						uc002ten.1		NaN																	0					0						c.(529-531)ATC>ATG		coiled-coil domain containing 138							67.0	67.0	67.0					2																	109411132		2203	4300	6503	SO:0001583	missense	165055							g.chr2:109411132C>G	AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.531C>G	2.37:g.109411132C>G	ENSP00000295124:p.Ile177Met					CCDC138_uc002teo.1_Missense_Mutation_p.I177M|CCDC138_uc002tep.1_Translation_Start_Site|CCDC138_uc010fjm.1_Translation_Start_Site	p.I177M	NM_144978	NP_659415	Q96M89	CC138_HUMAN			5	591	+			177					Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Missense_Mutation	SNP	ENST00000295124.4	37	c.531C>G	CCDS2080.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.12|12.12	1.841347|1.841347	0.32513|0.32513	.|.	.|.	ENSG00000163006|ENSG00000163006	ENST00000412964;ENST00000295124|ENST00000456512	D;D|.	0.90324|.	-2.65;-2.65|.	5.85|5.85	0.423|0.423	0.16463|0.16463	.|.	0.473166|.	0.21802|.	N|.	0.068906|.	T|.	0.36663|.	0.0975|.	L|L	0.51422|0.51422	1.61|1.61	0.20703|0.20703	N|N	0.999868|0.999868	P;P|.	0.49559|.	0.925;0.879|.	P;P|.	0.51385|.	0.592;0.668|.	T|.	0.29305|.	-1.0016|.	10|.	0.46703|.	T|.	0.11|.	-8.0772|-8.0772	4.6657|4.6657	0.12664|0.12664	0.2294:0.46:0.0:0.3106|0.2294:0.46:0.0:0.3106	.|.	177;177|.	Q96M89-2;Q96M89|.	.;CC138_HUMAN|.	M|X	177|75	ENSP00000411800:I177M;ENSP00000295124:I177M|.	ENSP00000295124:I177M|.	I|S	+|+	3|2	3|0	CCDC138|CCDC138	108777564|108777564	0.990000|0.990000	0.36364|0.36364	0.570000|0.570000	0.28473|0.28473	0.058000|0.058000	0.15608|0.15608	0.607000|0.607000	0.24209|0.24209	0.014000|0.014000	0.14944|0.14944	-0.291000|-0.291000	0.09656|0.09656	ATC|TCA		0.373	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1		NM_144978		12	47	0	0	0	1	0	12	47		
BUB1	699	broad.mit.edu	37	2	111425410	111425410	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:111425410C>G	ENST00000302759.6	-	7	702	c.584G>C	c.(583-585)gGa>gCa	p.G195A	BUB1_ENST00000535254.1_Missense_Mutation_p.G175A|BUB1_ENST00000409311.1_Missense_Mutation_p.G195A	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	195					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AGATATCACTCCAGAAAGCTC	0.323																																						uc002tgc.2		NaN																	0				lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7						c.(583-585)GGA>GCA		budding uninhibited by benzimidazoles 1							145.0	157.0	153.0					2																	111425410		2203	4300	6503	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111425410C>G	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.584G>C	2.37:g.111425410C>G	ENSP00000302530:p.Gly195Ala					BUB1_uc010yxh.1_Missense_Mutation_p.G175A|BUB1_uc010fkb.2_Missense_Mutation_p.G195A|BUB1_uc002tgd.2_Missense_Mutation_p.G195A	p.G195A	NM_004336	NP_004327	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	7	696	-		Ovarian(717;0.0822)	195					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.584G>C	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	C	6.154	0.396545	0.11638	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.28454	2.34;1.61;2.61	5.73	-0.736	0.11133	.	1.092960	0.06745	N	0.778994	T	0.23249	0.0562	L	0.54323	1.7	0.09310	N	0.999997	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.001	T	0.32587	-0.9901	10	0.09843	T	0.71	-3.6588	4.7316	0.12968	0.0:0.3429:0.3087:0.3485	.	175;195;195	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	A	175;195;195;195	ENSP00000441013:G175A;ENSP00000386701:G195A;ENSP00000302530:G195A	ENSP00000302530:G195A	G	-	2	0	BUB1	111141881	0.020000	0.18652	0.010000	0.14722	0.946000	0.59487	-0.185000	0.09684	0.082000	0.17018	0.655000	0.94253	GGA		0.323	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1		NM_004336		14	72	0	0	0	1	0	14	72		
IL1B	3553	broad.mit.edu	37	2	113590374	113590374	+	Missense_Mutation	SNP	C	C	T	rs201772036		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:113590374C>T	ENST00000263341.2	-	5	541	c.331G>A	c.(331-333)Gag>Aag	p.E111K	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	111					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)	p.E111K(1)		breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	ACATAAGCCTCGTTATCCCAT	0.488																																						uc002tii.1		NaN																	1	Substitution - Missense(1)	p.E111K(1)	breast(1)	lung(3)|breast(1)	4						c.(331-333)GAG>AAG		interleukin 1, beta proprotein	Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	C	LYS/GLU	0,4406		0,0,2203	198.0	163.0	175.0		331	-1.9	0.0	2		175	1,8599	1.2+/-3.3	0,1,4299	no	missense	IL1B	NM_000576.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	111/270	113590374	1,13005	2203	4300	6503	SO:0001583	missense	3553				activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	g.chr2:113590374C>T	M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.331G>A	2.37:g.113590374C>T	ENSP00000263341:p.Glu111Lys					IL1B_uc002tih.1_Missense_Mutation_p.E80K	p.E111K	NM_000576	NP_000567	P01584	IL1B_HUMAN			5	418	-			111					Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Missense_Mutation	SNP	ENST00000263341.2	37	c.331G>A	CCDS2102.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.929262	0.34096	0.0	1.16E-4	ENSG00000125538	ENST00000263341;ENST00000418817;ENST00000432018;ENST00000416750	T	0.35236	1.32	4.72	-1.94	0.07571	.	1.012530	0.07919	N	0.975597	T	0.23806	0.0576	L	0.42245	1.32	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.28004	-1.0057	10	0.33940	T	0.23	-13.3469	1.0871	0.01655	0.1507:0.3225:0.1473:0.3795	.	111	P01584	IL1B_HUMAN	K	111	ENSP00000263341:E111K	ENSP00000263341:E111K	E	-	1	0	IL1B	113306845	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.622000	0.02042	-0.526000	0.06383	-0.181000	0.13052	GAG		0.488	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254125.2		NM_000576		29	101	0	0	0	1	0	29	101		
IL37	27178	broad.mit.edu	37	2	113676180	113676180	+	Missense_Mutation	SNP	C	C	T	rs532660211		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:113676180C>T	ENST00000263326.3	+	5	493	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C	IL37_ENST00000311328.2_Missense_Mutation_p.R125C|IL37_ENST00000352179.3_Missense_Mutation_p.R130C|IL37_ENST00000349806.3_Missense_Mutation_p.R90C|IL37_ENST00000353225.3_Missense_Mutation_p.R111C	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	151					immune response (GO:0006955)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	interleukin-1 receptor binding (GO:0005149)			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						GGAATCAGCACGCCGGCCCTT	0.517																																						uc002tij.2		NaN																	0					0						c.(451-453)CGC>TGC		interleukin 1 family, member 7 isoform 1							46.0	52.0	50.0					2																	113676180		2203	4300	6503	SO:0001583	missense	27178				immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding	g.chr2:113676180C>T	AF201832	CCDS2103.1, CCDS2104.1, CCDS2105.1, CCDS2106.1, CCDS2107.1	2q12-q14.1	2011-06-06	2011-06-06	2011-06-06	ENSG00000125571	ENSG00000125571		"""Interleukins and interleukin receptors"""	15563	protein-coding gene	gene with protein product	"""interleukin 1, zeta"", ""interleukin-1 homolog 4"", ""interleukin-1-related protein"""	605510	"""interleukin 1 family, member 7 (zeta)"""	IL1F7		10625660, 10512743, 12496389	Standard	NM_014439		Approved	FIL1, FIL1Z, FIL1(ZETA), IL-1H4, IL-1RP1, IL-1F7	uc002tij.3	Q9NZH6	OTTHUMG00000131345	ENST00000263326.3:c.451C>T	2.37:g.113676180C>T	ENSP00000263326:p.Arg151Cys					IL1F7_uc002tik.2_Missense_Mutation_p.R130C|IL1F7_uc002til.2_Missense_Mutation_p.R111C|IL1F7_uc002tim.2_Missense_Mutation_p.R90C|IL1F7_uc002tin.2_Missense_Mutation_p.R125C	p.R151C	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN			5	493	+			151					B5BU97|Q56AP9|Q8TD04|Q8TD05|Q9HBF2|Q9HBF3|Q9UHA6	Missense_Mutation	SNP	ENST00000263326.3	37	c.451C>T	CCDS2103.1	.	.	.	.	.	.	.	.	.	.	c	14.29	2.491341	0.44249	.	.	ENSG00000125571	ENST00000263326;ENST00000352179;ENST00000349806;ENST00000353225;ENST00000311328	T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28	3.81	-1.59	0.08453	.	1.370300	0.05071	N	0.481684	T	0.11281	0.0275	L	0.40543	1.245	0.09310	N	1	P;B;B;B;B	0.35774	0.519;0.268;0.36;0.218;0.258	B;B;B;B;B	0.21546	0.035;0.015;0.033;0.01;0.017	T	0.25082	-1.0142	10	0.66056	D	0.02	1.3447	4.1302	0.10146	0.0:0.3818:0.1767:0.4415	.	125;90;111;130;151	Q9NZH6-2;Q9NZH6-5;Q9NZH6-3;Q9NZH6-4;Q9NZH6	.;.;.;.;IL37_HUMAN	C	151;130;90;111;125	ENSP00000263326:R151C;ENSP00000263327:R130C;ENSP00000263328:R90C;ENSP00000309208:R111C;ENSP00000309883:R125C	ENSP00000263326:R151C	R	+	1	0	IL37	113392651	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.796000	0.01750	-0.494000	0.06669	0.556000	0.70494	CGC		0.517	IL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254126.1		NM_014439		12	47	0	0	0	1	0	12	47		
GLI2	2736	broad.mit.edu	37	2	121740439	121740439	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:121740439C>G	ENST00000452319.1	+	11	1726	c.1666C>G	c.(1666-1668)Cgc>Ggc	p.R556G	GLI2_ENST00000314490.11_Missense_Mutation_p.R228G|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.R556G					GLI family zinc finger 2											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)				GCACCAGAATCGCACCCACTC	0.627																																						uc010flp.2		NaN																	0				ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(1666-1668)CGC>GGC		GLI-Kruppel family member GLI2							81.0	69.0	73.0					2																	121740439		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.chr2:121740439C>G		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.1666C>G	2.37:g.121740439C>G	ENSP00000390436:p.Arg556Gly					GLI2_uc002tmq.1_Missense_Mutation_p.R228G|GLI2_uc002tmr.1_Missense_Mutation_p.R211G|GLI2_uc002tmt.3_Missense_Mutation_p.R228G|GLI2_uc002tmu.3_Missense_Mutation_p.R211G|GLI2_uc002tmw.1_Missense_Mutation_p.R539G	p.R556G	NM_005270	NP_005261	P10070	GLI2_HUMAN			10	1696	+	Renal(3;0.0496)	Prostate(154;0.0623)	556			C2H2-type 4.			Missense_Mutation	SNP	ENST00000452319.1	37	c.1666C>G	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066688	0.76301	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.24151	1.87;1.87;4.49	4.59	4.59	0.56863	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.53738	0.1815	M	0.86028	2.79	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.993	D;D;D;D;P	0.97110	0.997;0.998;0.998;1.0;0.874	T	0.60188	-0.7312	10	0.87932	D	0	.	12.8394	0.57793	0.2036:0.7964:0.0:0.0	.	556;539;211;211;228	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	G	556;556;228	ENSP00000390436:R556G;ENSP00000354586:R556G;ENSP00000312694:R228G	ENSP00000312694:R228G	R	+	1	0	GLI2	121456909	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	2.319000	0.43788	2.536000	0.85505	0.484000	0.47621	CGC		0.627	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3		NM_005270		18	91	0	0	0	1	0	18	91		
TFCP2L1	29842	broad.mit.edu	37	2	122004422	122004422	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:122004422G>A	ENST00000263707.5	-	6	726	c.629C>T	c.(628-630)tCa>tTa	p.S210L		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	210					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GCAGCTGGCTGAGTGCAGGTG	0.602																																						uc002tmx.2		NaN																	0				pancreas(2)|ovary(1)	3						c.(628-630)TCA>TTA		LBP-9							165.0	144.0	151.0					2																	122004422		2203	4300	6503	SO:0001583	missense	29842				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:122004422G>A	AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.629C>T	2.37:g.122004422G>A	ENSP00000263707:p.Ser210Leu					TFCP2L1_uc010flr.2_Missense_Mutation_p.S210L	p.S210L	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN			6	722	-	Renal(3;0.01)		210					Q4ZG43	Missense_Mutation	SNP	ENST00000263707.5	37	c.629C>T	CCDS2134.1	.	.	.	.	.	.	.	.	.	.	G	35	5.437145	0.96168	.	.	ENSG00000115112	ENST00000263707	T	0.16457	2.34	5.3	5.3	0.74995	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.45657	0.1353	M	0.83603	2.65	0.80722	D	1	D;D	0.69078	0.971;0.997	D;D	0.75020	0.916;0.985	T	0.32455	-0.9906	10	0.23302	T	0.38	.	19.3157	0.94213	0.0:0.0:1.0:0.0	.	210;210	Q5JV87;Q9NZI6	.;TF2L1_HUMAN	L	210	ENSP00000263707:S210L	ENSP00000263707:S210L	S	-	2	0	TFCP2L1	121720892	1.000000	0.71417	0.974000	0.42286	0.994000	0.84299	9.781000	0.99029	2.623000	0.88846	0.655000	0.94253	TCA		0.602	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1		NM_014553		31	137	0	0	0	1	0	31	137		
IWS1	55677	broad.mit.edu	37	2	128253659	128253659	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:128253659C>T	ENST00000295321.4	-	7	1890	c.1631G>A	c.(1630-1632)aGa>aAa	p.R544K	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_3'UTR	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	544	Interaction with SUPT6H and ALYREF.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GCGGTTCCGTCTGCGCTTGCC	0.468																																						uc002ton.2		NaN																	0				ovary(1)	1						c.(1630-1632)AGA>AAA		IWS1 homolog							296.0	274.0	282.0					2																	128253659		2203	4300	6503	SO:0001583	missense	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128253659C>T	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1631G>A	2.37:g.128253659C>T	ENSP00000295321:p.Arg544Lys					IWS1_uc010yzl.1_RNA	p.R544K	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	7	1934	-	Colorectal(110;0.1)		544					Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	c.1631G>A	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	C	35	5.569348	0.96540	.	.	ENSG00000163166	ENST00000295321;ENST00000433551	T	0.52295	0.67	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.66277	0.2773	M	0.65498	2.005	0.80722	D	1	D	0.69078	0.997	D	0.65684	0.937	T	0.62129	-0.6919	10	0.30854	T	0.27	-29.812	19.1892	0.93658	0.0:1.0:0.0:0.0	.	544	Q96ST2	IWS1_HUMAN	K	544;497	ENSP00000295321:R544K	ENSP00000295321:R544K	R	-	2	0	IWS1	127970129	0.944000	0.32072	0.947000	0.38551	0.943000	0.58893	5.992000	0.70609	2.553000	0.86117	0.563000	0.77884	AGA		0.468	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2		NM_017969		78	249	0	0	0	1	0	78	249		
UGGT1	56886	broad.mit.edu	37	2	128939716	128939716	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:128939716G>A	ENST00000259253.6	+	37	4143	c.4096G>A	c.(4096-4098)Gat>Aat	p.D1366N	UGGT1_ENST00000375990.3_Missense_Mutation_p.D1342N	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1366	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGTACGAACAGATCTGAAAGA	0.428																																						uc002tps.2		NaN																	0				ovary(1)	1						c.(4096-4098)GAT>AAT		UDP-glucose ceramide glucosyltransferase-like 1							130.0	133.0	132.0					2																	128939716		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128939716G>A	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.4096G>A	2.37:g.128939716G>A	ENSP00000259253:p.Asp1366Asn					UGGT1_uc002tpr.2_Missense_Mutation_p.D1342N	p.D1366N	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN			37	4274	+			1366			Glucosyltransferase (By similarity).		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.4096G>A	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	32	5.129961	0.94473	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.26518	1.73;1.73	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.62732	0.2452	M	0.92122	3.275	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	T	0.71636	-0.4533	9	.	.	.	.	19.577	0.95449	0.0:0.0:1.0:0.0	.	1366	Q9NYU2	UGGG1_HUMAN	N	1342;1366	ENSP00000365158:D1342N;ENSP00000259253:D1366N	.	D	+	1	0	UGGT1	128656186	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	9.420000	0.97426	2.693000	0.91896	0.650000	0.86243	GAT		0.428	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2		NM_020120		32	94	0	0	0	1	0	32	94		
SMPD4	55627	broad.mit.edu	37	2	130922009	130922009	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:130922009C>T	ENST00000409031.1	-	10	2067	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K	SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000443958.2_5'UTR|SMPD4_ENST00000351288.6_Missense_Mutation_p.E307K|SMPD4_ENST00000452225.2_Silent_p.L20L|SMPD4_ENST00000431183.2_Missense_Mutation_p.E234K|SMPD4_ENST00000453750.1_Missense_Mutation_p.E85K|SMPD4_ENST00000339679.7_Missense_Mutation_p.E194K|SMPD4_ENST00000426662.2_Silent_p.L20L	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	268					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	AGCCACATTTCAACAAAAACC	0.433																																						uc002tqq.1		NaN																	0					0						c.(919-921)GAA>AAA		sphingomyelin phosphodiesterase 4 isoform 2	Phosphatidylserine(DB00144)						86.0	71.0	76.0					2																	130922009		2203	4300	6503	SO:0001583	missense	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130922009C>T	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.919G>A	2.37:g.130922009C>T	ENSP00000386531:p.Glu307Lys					SMPD4_uc002tqp.1_5'UTR|SMPD4_uc010yzy.1_Missense_Mutation_p.E85K|SMPD4_uc010yzz.1_5'UTR|SMPD4_uc002tqr.1_Missense_Mutation_p.E307K|SMPD4_uc002tqs.1_Missense_Mutation_p.E175K|SMPD4_uc002tqt.1_Missense_Mutation_p.E185K|SMPD4_uc010zaa.1_Missense_Mutation_p.E194K|SMPD4_uc010zab.1_Missense_Mutation_p.E234K|SMPD4_uc010zac.1_Silent_p.L20L|SMPD4_uc010zad.1_Silent_p.L20L	p.E307K	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN			10	1439	-	Colorectal(110;0.1)		268					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	37	c.919G>A	CCDS42751.1	.	.	.	.	.	.	.	.	.	.	.	28.8	4.950346	0.92660	.	.	ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000339679;ENST00000451542	.	.	.	4.17	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.78375	0.4273	M	0.78637	2.42	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.996;0.982;1.0;1.0	D;D;D;P;D;D	0.91635	0.987;0.982;0.986;0.831;0.993;0.999	T	0.81649	-0.0837	9	0.66056	D	0.02	.	13.9727	0.64252	0.0:1.0:0.0:0.0	.	234;194;85;268;268;307	E7ESA2;B4E0T5;B4DM23;Q9NXE4-2;Q9NXE4;B1PBA3	.;.;.;.;NSMA3_HUMAN;.	K	307;307;234;85;194;84	.	ENSP00000339721:E194K	E	-	1	0	SMPD4	130638479	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.588000	0.82629	1.864000	0.54056	0.557000	0.71058	GAA		0.433	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3		NM_017751		15	33	0	0	0	1	0	15	33		
NCKAP5	344148	broad.mit.edu	37	2	133539884	133539884	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:133539884C>T	ENST00000409261.1	-	14	4873	c.4500G>A	c.(4498-4500)caG>caA	p.Q1500Q	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.Q1500Q|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1500										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCCCAGGCTTCTGCTTTGCTT	0.473																																						uc002ttp.2		NaN																	0					0						c.(4498-4500)CAG>CAA		Nck-associated protein 5 isoform 1							71.0	70.0	70.0					2																	133539884		1856	4092	5948	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133539884C>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4500G>A	2.37:g.133539884C>T						NCKAP5_uc002ttq.2_Intron	p.Q1500Q	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	4874	-			1500					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.4500G>A	CCDS46418.1																																																																																				0.473	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1		NM_207481		25	64	0	0	0	1	0	25	64		
NEB	4703	broad.mit.edu	37	2	152468834	152468834	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:152468834C>G	ENST00000172853.10	-	74	11089	c.10942G>C	c.(10942-10944)Gag>Cag	p.E3648Q	NEB_ENST00000427231.2_Missense_Mutation_p.E3891Q|NEB_ENST00000397345.3_Missense_Mutation_p.E3891Q|NEB_ENST00000603639.1_Missense_Mutation_p.E3891Q|NEB_ENST00000409198.1_Missense_Mutation_p.E3648Q|NEB_ENST00000604864.1_Missense_Mutation_p.E3891Q			P20929	NEBU_HUMAN	nebulin	3648					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCACTTTCTCGACCTCTACA	0.438																																						uc010fnx.2		NaN																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(10942-10944)GAG>CAG		nebulin isoform 3							80.0	75.0	77.0					2																	152468834		1920	4147	6067	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152468834C>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10942G>C	2.37:g.152468834C>G	ENSP00000172853:p.Glu3648Gln						p.E3648Q	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	74	11133	-			3648			Nebulin 100.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.10942G>C		.	.	.	.	.	.	.	.	.	.	C	15.95	2.984039	0.53827	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.07688	3.27;3.19;3.17;3.27	5.54	4.65	0.58169	.	0.062733	0.64402	D	0.000007	T	0.09291	0.0229	M	0.66439	2.03	0.80722	D	1	P	0.37101	0.582	B	0.30495	0.116	T	0.17837	-1.0356	10	0.21014	T	0.42	.	11.1755	0.48596	0.0:0.8574:0.0:0.1426	.	3648	P20929	NEBU_HUMAN	Q	3648;3891;3891;3648	ENSP00000386259:E3648Q;ENSP00000380505:E3891Q;ENSP00000416578:E3891Q;ENSP00000172853:E3648Q	ENSP00000172853:E3648Q	E	-	1	0	NEB	152177080	0.599000	0.26891	0.898000	0.35279	0.866000	0.49608	2.597000	0.46214	1.473000	0.48159	0.655000	0.94253	GAG		0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding			NM_004543		7	38	0	0	0	1	0	7	38		
FMNL2	114793	broad.mit.edu	37	2	153399292	153399292	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:153399292C>G	ENST00000288670.9	+	3	608	c.241C>G	c.(241-243)Caa>Gaa	p.Q81E		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	81	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TACATACATTCAAAAGCTCAA	0.438																																						uc002tye.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(241-243)CAA>GAA		formin-like 2							159.0	146.0	150.0					2																	153399292		1904	4105	6009	SO:0001583	missense	114793				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	g.chr2:153399292C>G	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.241C>G	2.37:g.153399292C>G	ENSP00000288670:p.Gln81Glu						p.Q81E	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN			3	608	+			81			GBD/FH3.		B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000288670.9	37	c.241C>G	CCDS46429.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.581868	0.65992	.	.	ENSG00000157827	ENST00000288670	D	0.86562	-2.14	6.02	6.02	0.97574	.	0.317119	0.36409	N	0.002618	T	0.81602	0.4857	L	0.29908	0.895	0.80722	D	1	B	0.29301	0.241	B	0.28709	0.093	T	0.76305	-0.3008	10	0.19147	T	0.46	.	19.3122	0.94192	0.0:1.0:0.0:0.0	.	81	Q96PY5-3	.	E	81	ENSP00000288670:Q81E	ENSP00000288670:Q81E	Q	+	1	0	FMNL2	153107538	1.000000	0.71417	0.970000	0.41538	0.988000	0.76386	7.137000	0.77295	2.865000	0.98341	0.655000	0.94253	CAA		0.438	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2		NM_052905		10	36	0	0	0	1	0	10	36		
TANC1	85461	broad.mit.edu	37	2	160050816	160050816	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:160050816G>A	ENST00000263635.6	+	17	3028	c.2791G>A	c.(2791-2793)Gaa>Aaa	p.E931K	TANC1_ENST00000454300.1_Missense_Mutation_p.E825K	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	931					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CTACAGGACAGAAGTGTTAAA	0.517																																						uc002uag.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2791-2793)GAA>AAA		tetratricopeptide repeat, ankyrin repeat and							77.0	78.0	77.0					2																	160050816		2005	4159	6164	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160050816G>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2791G>A	2.37:g.160050816G>A	ENSP00000263635:p.Glu931Lys					TANC1_uc010zcm.1_Missense_Mutation_p.E923K|TANC1_uc010fom.1_Missense_Mutation_p.E737K	p.E931K	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			17	3065	+			931					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.2791G>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	36	5.736528	0.96865	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.14893	2.47;2.47	5.64	5.64	0.86602	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.23210	0.0561	N	0.03304	-0.355	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.991	D;D;D	0.81914	0.995;0.994;0.95	T	0.48547	-0.9026	10	0.72032	D	0.01	.	19.7763	0.96395	0.0:0.0:1.0:0.0	.	923;825;931	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	K	825;931	ENSP00000396339:E825K;ENSP00000263635:E931K	ENSP00000263635:E931K	E	+	1	0	TANC1	159759062	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	9.865000	0.99609	2.685000	0.91497	0.650000	0.86243	GAA		0.517	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1				24	87	0	0	0	1	0	24	87		
TANC1	85461	broad.mit.edu	37	2	160050867	160050867	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:160050867G>A	ENST00000263635.6	+	17	3079	c.2842G>A	c.(2842-2844)Gag>Aag	p.E948K	TANC1_ENST00000454300.1_Missense_Mutation_p.E842K	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	948					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCTTGGCCACGAGGAAGTTGT	0.557																																						uc002uag.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2842-2844)GAG>AAG		tetratricopeptide repeat, ankyrin repeat and							72.0	74.0	73.0					2																	160050867		2089	4211	6300	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160050867G>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2842G>A	2.37:g.160050867G>A	ENSP00000263635:p.Glu948Lys					TANC1_uc010zcm.1_Missense_Mutation_p.E940K|TANC1_uc010fom.1_Missense_Mutation_p.E754K	p.E948K	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			17	3116	+			948			ANK 2.		C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.2842G>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664297	0.47572	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.64991	-0.13;-0.03	5.51	5.51	0.81932	Ankyrin repeat-containing domain (4);	0.104931	0.64402	D	0.000004	T	0.52693	0.1750	L	0.31065	0.9	0.52099	D	0.999944	P;P;P	0.49090	0.919;0.901;0.727	B;B;B	0.41135	0.348;0.236;0.34	T	0.49688	-0.8913	10	0.22706	T	0.39	.	19.4918	0.95052	0.0:0.0:1.0:0.0	.	940;842;948	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	K	842;948	ENSP00000396339:E842K;ENSP00000263635:E948K	ENSP00000263635:E948K	E	+	1	0	TANC1	159759113	1.000000	0.71417	0.959000	0.39883	0.971000	0.66376	3.553000	0.53713	2.616000	0.88540	0.558000	0.71614	GAG		0.557	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1				23	75	0	0	0	1	0	23	75		
MARCH7	64844	broad.mit.edu	37	2	160599728	160599728	+	Missense_Mutation	SNP	G	G	A	rs372655786		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:160599728G>A	ENST00000259050.4	+	3	432	c.310G>A	c.(310-312)Ggg>Agg	p.G104R	MARCH7_ENST00000539065.1_Missense_Mutation_p.G104R|MARCH7_ENST00000409175.1_Missense_Mutation_p.G104R|MARCH7_ENST00000473749.1_3'UTR|MARCH7_ENST00000409591.1_Missense_Mutation_p.G66R	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	104	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TACCTCAGCTGGGAGAAATGT	0.403																																						uc002uax.2		NaN																	0					0						c.(310-312)GGG>AGG		axotrophin		G	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	118.0	114.0	115.0		310	2.7	1.0	2		115	0,8600		0,0,4300	no	missense	MARCH7	NM_022826.2	125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	104/705	160599728	1,13005	2203	4300	6503	SO:0001583	missense	64844						ligase activity|zinc ion binding	g.chr2:160599728G>A	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.310G>A	2.37:g.160599728G>A	ENSP00000259050:p.Gly104Arg					MARCH7_uc010foq.2_Missense_Mutation_p.G104R|MARCH7_uc010zcn.1_Missense_Mutation_p.G104R|MARCH7_uc010for.2_Missense_Mutation_p.G66R	p.G104R	NM_022826	NP_073737	Q9H992	MARH7_HUMAN			3	432	+			104			Ser-rich.		A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	SNP	ENST00000259050.4	37	c.310G>A	CCDS2210.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182668	0.57800	2.27E-4	0.0	ENSG00000136536	ENST00000409175;ENST00000539065;ENST00000259050;ENST00000409591	T;T;T;T	0.12672	2.67;2.72;2.67;2.66	5.54	2.66	0.31614	.	0.647346	0.16383	N	0.216823	T	0.13713	0.0332	L	0.44542	1.39	0.26997	N	0.965004	B;B;B	0.34103	0.343;0.437;0.437	B;B;B	0.39590	0.304;0.143;0.091	T	0.16335	-1.0406	10	0.36615	T	0.2	-1.9153	7.9588	0.30060	0.0734:0.0:0.6423:0.2843	.	104;66;104	F5H6W4;B7Z7P5;Q9H992	.;.;MARH7_HUMAN	R	104;104;104;66	ENSP00000386830:G104R;ENSP00000442992:G104R;ENSP00000259050:G104R;ENSP00000387238:G66R	ENSP00000259050:G104R	G	+	1	0	MARCH7	160307974	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	3.669000	0.54561	0.250000	0.21479	0.650000	0.86243	GGG		0.403	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3		NM_022826		25	48	0	0	0	1	0	25	48		
ITGB6	3694	broad.mit.edu	37	2	161052112	161052112	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:161052112G>A	ENST00000283249.2	-	4	598	c.361C>T	c.(361-363)Ctg>Ttg	p.L121L	ITGB6_ENST00000409872.1_Silent_p.L121L|ITGB6_ENST00000409967.2_Silent_p.L121L|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000428609.2_Silent_p.L79L	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	121					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TGCACCTGCAGAGTCTGCGCA	0.522																																						uc002ubh.2		NaN																	0				ovary(1)|lung(1)|skin(1)	3						c.(361-363)CTG>TTG		integrin, beta 6 precursor							67.0	61.0	63.0					2																	161052112		2203	4300	6503	SO:0001819	synonymous_variant	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:161052112G>A		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.361C>T	2.37:g.161052112G>A						ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Silent_p.L121L|ITGB6_uc010zcq.1_Silent_p.L79L|ITGB6_uc010fov.1_Silent_p.L121L	p.L121L	NM_000888	NP_000879	P18564	ITB6_HUMAN			4	377	-			121			Extracellular (Potential).		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Silent	SNP	ENST00000283249.2	37	c.361C>T	CCDS2212.1																																																																																				0.522	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1		NM_000888		16	63	0	0	0	1	0	16	63		
KCNH7	90134	broad.mit.edu	37	2	163360985	163360985	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:163360985G>A	ENST00000332142.5	-	6	1195	c.1096C>T	c.(1096-1098)Cga>Tga	p.R366*	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Nonsense_Mutation_p.R359*	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	366					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TTGTGTGTTCGATCTTTAACC	0.373																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1		NaN																	0				ovary(3)|skin(2)	5						c.(1096-1098)CGA>TGA		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						184.0	180.0	181.0					2																	163360985		2203	4300	6503	SO:0001587	stop_gained	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163360985G>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1096C>T	2.37:g.163360985G>A	ENSP00000331727:p.Arg366*					KCNH7_uc002uci.2_Nonsense_Mutation_p.R359*	p.R366*	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			6	1308	-			366			Cytoplasmic (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Nonsense_Mutation	SNP	ENST00000332142.5	37	c.1096C>T	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	37	6.281806	0.97440	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	.	.	.	5.8	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3048	0.66377	0.0:0.0:0.7219:0.2781	.	.	.	.	X	366;359	.	ENSP00000333781:R359X	R	-	1	2	KCNH7	163069231	0.997000	0.39634	0.922000	0.36590	0.981000	0.71138	2.508000	0.45450	1.393000	0.46605	0.585000	0.79938	CGA		0.373	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1		NM_033272		17	63	0	0	0	1	0	17	63		
SCN3A	6328	broad.mit.edu	37	2	166020150	166020150	+	Intron	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:166020150C>G	ENST00000360093.3	-	7	1186				SCN3A_ENST00000409101.3_Intron|SCN3A_ENST00000283254.7_Silent_p.L224L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit						membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAATTGTTTTCAGTGCTCGGA	0.403																																						uc002ucx.2		NaN																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(670-672)CTG>CTC		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						98.0	92.0	94.0					2																	166020150		2203	4300	6503	SO:0001627	intron_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166020150C>G	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.694+161G>C	2.37:g.166020150C>G						SCN3A_uc002ucy.2_Silent_p.L224L|SCN3A_uc002ucz.2_Intron|SCN3A_uc002uda.1_Silent_p.L93L|SCN3A_uc002udb.1_Intron	p.L224L	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			7	1164	-			224			Helical; Voltage-sensor; Name=S4 of repeat I; (Potential).		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.672G>C																																																																																					0.403	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_006922		12	22	0	0	0	1	0	12	22		
TTC21B	79809	broad.mit.edu	37	2	166747063	166747063	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:166747063C>G	ENST00000243344.7	-	24	3326	c.3189G>C	c.(3187-3189)atG>atC	p.M1063I	TTC21B_ENST00000536175.1_Start_Codon_SNP_p.M1I	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1063					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						AGATCTCTATCATATTATAAA	0.388																																						uc002udk.2		NaN																	0				ovary(2)|pancreas(2)|breast(1)	5						c.(3187-3189)ATG>ATC		tetratricopeptide repeat domain 21B							66.0	65.0	66.0					2																	166747063		2203	4299	6502	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166747063C>G	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.3189G>C	2.37:g.166747063C>G	ENSP00000243344:p.Met1063Ile					TTC21B_uc002udj.1_RNA	p.M1063I	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN			24	3322	-			1063					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.3189G>C	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042736	0.93685	.	.	ENSG00000123607	ENST00000536175;ENST00000243344	T;T	0.72725	-0.68;0.04	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.77616	2.38	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.83784	0.0227	10	0.42905	T	0.14	-20.2848	19.8361	0.96658	0.0:1.0:0.0:0.0	.	1063	Q7Z4L5	TT21B_HUMAN	I	1;1063	ENSP00000438692:M1I;ENSP00000243344:M1063I	ENSP00000243344:M1063I	M	-	3	0	TTC21B	166455309	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.802000	0.85969	2.703000	0.92315	0.637000	0.83480	ATG		0.388	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1		NM_024753		14	35	0	0	0	1	0	14	35		
SCN9A	6335	broad.mit.edu	37	2	167159651	167159651	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:167159651C>T	ENST00000409435.1	-	6	849	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.E284K|SCN9A_ENST00000375387.4_Missense_Mutation_p.E285K|SCN9A_ENST00000303354.6_Missense_Mutation_p.E285K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	284					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTAATGTTTCATTATTTTCA	0.343																																						uc010fpl.2		NaN																	0				ovary(6)|central_nervous_system(5)|skin(2)	13						c.(850-852)GAA>AAA		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						94.0	91.0	92.0					2																	167159651		2105	4280	6385	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167159651C>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.850G>A	2.37:g.167159651C>T	ENSP00000386330:p.Glu284Lys					SCN9A_uc002udr.1_Missense_Mutation_p.E155K|SCN9A_uc002uds.1_Missense_Mutation_p.E155K|SCN9A_uc002udt.1_Missense_Mutation_p.E155K	p.E284K	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			7	1191	-			284			I.		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.850G>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	8.186	0.794872	0.16327	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.96200	-3.91;-3.94;-3.94;-3.94;-3.85;-3.88	6.07	2.92	0.33932	Ion transport (1);	1.176450	0.06477	N	0.732254	D	0.91600	0.7346	L	0.31526	0.94	0.30056	N	0.811298	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.15870	0.006;0.006;0.014	T	0.83320	-0.0018	10	0.30078	T	0.28	.	9.8867	0.41266	0.0:0.6497:0.0:0.3503	.	284;284;285	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	K	284;285;285;284;149;149	ENSP00000386306:E284K;ENSP00000364536:E285K;ENSP00000304748:E285K;ENSP00000386330:E284K;ENSP00000413212:E149K;ENSP00000393141:E149K	ENSP00000304748:E285K	E	-	1	0	SCN9A	166867897	0.979000	0.34478	0.997000	0.53966	0.381000	0.30169	0.574000	0.23714	0.910000	0.36722	0.585000	0.79938	GAA		0.343	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1		NM_002977		6	17	0	0	0	1	0	6	17		
KLHL23	151230	broad.mit.edu	37	2	170606109	170606109	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:170606109G>T	ENST00000392647.2	+	4	1788	c.1544G>T	c.(1543-1545)gGa>gTa	p.G515V	KLHL23_ENST00000602521.1_Missense_Mutation_p.G22V|KLHL23_ENST00000272797.4_Missense_Mutation_p.G515V	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	515										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						GTCACTGGAGGATACTCCTAC	0.448																																						uc002ufh.1		NaN																	0					0						c.(1543-1545)GGA>GTA		kelch-like 23							219.0	199.0	206.0					2																	170606109		2203	4300	6503	SO:0001583	missense	151230							g.chr2:170606109G>T	BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"""Kelch-like"", ""BTB/POZ domain containing"""	27506	protein-coding gene	gene with protein product			"""kelch-like 23 (Drosophila)"""				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.1544G>T	2.37:g.170606109G>T	ENSP00000376419:p.Gly515Val					KLHL23_uc002ufi.1_Missense_Mutation_p.G515V|uc002ufj.3_5'Flank	p.G515V	NM_144711	NP_653312	Q8NBE8	KLH23_HUMAN			6	1882	+			515			Kelch 6.		Q8N9B9|Q96FT8	Missense_Mutation	SNP	ENST00000392647.2	37	c.1544G>T	CCDS2236.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854307	0.91355	.	.	ENSG00000213160	ENST00000272797;ENST00000392647	D;D	0.99494	-6.01;-6.01	5.35	5.35	0.76521	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.99753	0.9901	H	0.97758	4.07	0.36624	D	0.875909	D	0.89917	1.0	D	0.97110	1.0	D	0.97111	0.9804	9	0.87932	D	0	.	19.0753	0.93159	0.0:0.0:1.0:0.0	.	515	Q8NBE8	KLH23_HUMAN	V	515	ENSP00000272797:G515V;ENSP00000376419:G515V	ENSP00000272797:G515V	G	+	2	0	KLHL23	170314355	1.000000	0.71417	0.989000	0.46669	0.999000	0.98932	9.397000	0.97276	2.516000	0.84829	0.655000	0.94253	GGA		0.448	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2		NM_144711		23	76	1	0	7.87624e-14	1	8.28229e-14	23	76		
GORASP2	26003	broad.mit.edu	37	2	171806117	171806117	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:171806117C>G	ENST00000234160.4	+	3	1028	c.213C>G	c.(211-213)atC>atG	p.I71M	GORASP2_ENST00000493692.1_3'UTR|GORASP2_ENST00000452526.2_Missense_Mutation_p.I83M	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	71	PDZ.				mitotic cell cycle (GO:0000278)|organelle organization (GO:0006996)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						AGATGCTTATCTATAGCAGCA	0.438																																						uc002ugk.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(211-213)ATC>ATG		golgi reassembly stacking protein 2							107.0	105.0	105.0					2																	171806117		2203	4300	6503	SO:0001583	missense	26003					Golgi membrane		g.chr2:171806117C>G		CCDS33325.1	2q31.1	2012-09-20	2002-08-29		ENSG00000115806	ENSG00000115806			17500	protein-coding gene	gene with protein product		608693	"""golgi reassembly stacking protein 2, 55 kDa"""			10487747	Standard	NM_015530		Approved	GRASP55, GRS2, GOLPH6	uc002ugj.3	Q9H8Y8	OTTHUMG00000154072	ENST00000234160.4:c.213C>G	2.37:g.171806117C>G	ENSP00000234160:p.Ile71Met					GORASP2_uc002ugj.2_Missense_Mutation_p.I3M|GORASP2_uc010zdl.1_Missense_Mutation_p.I83M|GORASP2_uc010zdm.1_Missense_Mutation_p.I27M|GORASP2_uc002ugl.2_Missense_Mutation_p.I3M	p.I71M	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN			3	353	+			71			PDZ.		B4DKT0|Q53TE3|Q96I74|Q96K84|Q9H946|Q9UFW4	Missense_Mutation	SNP	ENST00000234160.4	37	c.213C>G	CCDS33325.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349610	0.82132	.	.	ENSG00000115806	ENST00000234160;ENST00000452526	T;T	0.35236	1.32;1.32	6.16	6.16	0.99307	PDZ/DHR/GLGF (2);	0.095360	0.64402	D	0.000001	T	0.49541	0.1563	L	0.50333	1.59	0.46586	D	0.99911	D;D;P	0.58268	0.963;0.982;0.939	P;P;P	0.61275	0.828;0.886;0.777	T	0.47249	-0.9132	10	0.87932	D	0	-15.4857	10.9827	0.47504	0.122:0.6504:0.2276:0.0	.	27;83;71	B4DNR1;B4DKT0;Q9H8Y8	.;.;GORS2_HUMAN	M	71;83	ENSP00000234160:I71M;ENSP00000410208:I83M	ENSP00000234160:I71M	I	+	3	3	GORASP2	171514363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.224000	0.32539	2.937000	0.99478	0.650000	0.86243	ATC		0.438	GORASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333719.2				31	93	0	0	0	1	0	31	93		
HAT1	8520	broad.mit.edu	37	2	172803292	172803292	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:172803292C>G	ENST00000264108.4	+	3	213	c.177C>G	c.(175-177)ctC>ctG	p.L59L	HAT1_ENST00000392584.1_Intron|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	59					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CCCATCAACTCTTTGGGGATG	0.264																																						uc002uhi.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(175-177)CTC>CTG		histone acetyltransferase 1							63.0	68.0	66.0					2																	172803292		2202	4296	6498	SO:0001819	synonymous_variant	8520				chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding	g.chr2:172803292C>G	AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"""	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.177C>G	2.37:g.172803292C>G						HAT1_uc010fqi.2_5'UTR|HAT1_uc002uhj.2_Intron	p.L59L	NM_003642	NP_003633	O14929	HAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		3	253	+			59					Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Silent	SNP	ENST00000264108.4	37	c.177C>G	CCDS2245.1																																																																																				0.264	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1		NM_003642		16	37	0	0	0	1	0	16	37		
ZAK	51776	broad.mit.edu	37	2	174131031	174131031	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:174131031C>G	ENST00000375213.3	+	20	2034	c.1956C>G	c.(1954-1956)ctC>ctG	p.L652L	MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Silent_p.L652L	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		652					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										CCCTACATCTCAACTCTAGGG	0.468																																						uc002uhz.2		NaN																	0				lung(3)|stomach(1)|ovary(1)|skin(1)	6						c.(1954-1956)CTC>CTG		MLK-related kinase isoform 1							80.0	81.0	80.0					2																	174131031		1931	4148	6079	SO:0001819	synonymous_variant	51776				activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr2:174131031C>G																												ENST00000375213.3:c.1956C>G	2.37:g.174131031C>G						uc002uib.2_Intron	p.L652L	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.176)		20	2156	+			652					B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Silent	SNP	ENST00000375213.3	37	c.1956C>G	CCDS42777.1																																																																																				0.468	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1				17	74	0	0	0	1	0	17	74		
CHN1	1123	broad.mit.edu	37	2	175673765	175673765	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:175673765C>T	ENST00000409900.3	-	11	1283	c.970G>A	c.(970-972)Gag>Aag	p.E324K	CHN1_ENST00000409156.3_Missense_Mutation_p.E298K|CHN1_ENST00000409597.1_Missense_Mutation_p.E140K|CHN1_ENST00000295497.7_Missense_Mutation_p.E199K|CHN1_ENST00000488080.1_5'UTR	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	324	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TCTGCCTTCTCACCATCTTTT	0.318			T	TAF15	extraskeletal myxoid chondrosarcoma																																	uc002uji.2		NaN		Dom	yes		2	2q31-q32.1	1123	T	chimerin (chimaerin) 1			M	TAF15		extraskeletal myxoid chondrosarcoma		0				ovary(2)|skin(1)	3						c.(970-972)GAG>AAG		chimerin (chimaerin) 1 isoform a							116.0	109.0	111.0					2																	175673765		1845	4100	5945	SO:0001583	missense	1123				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr2:175673765C>T		CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.970G>A	2.37:g.175673765C>T	ENSP00000386741:p.Glu324Lys					CHN1_uc010zeq.1_Missense_Mutation_p.E298K|CHN1_uc002ujj.2_Missense_Mutation_p.E99K|CHN1_uc002ujg.2_Missense_Mutation_p.E199K	p.E324K	NM_001822	NP_001813	P15882	CHIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.226)		11	1500	-			324			Rho-GAP.		A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	ENST00000409900.3	37	c.970G>A	CCDS46455.1	.	.	.	.	.	.	.	.	.	.	C	34	5.342521	0.95783	.	.	ENSG00000128656	ENST00000409900;ENST00000295497;ENST00000409597;ENST00000409156;ENST00000409089;ENST00000444394;ENST00000413882;ENST00000443238	T;T;T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19	4.85	4.85	0.62838	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.40570	0.1122	M	0.64567	1.98	0.80722	D	1	P;P;P	0.45827	0.867;0.645;0.709	P;B;P	0.57101	0.813;0.329;0.51	T	0.12268	-1.0554	10	0.46703	T	0.11	.	17.3065	0.87196	0.0:1.0:0.0:0.0	.	298;324;199	B4DV19;P15882;P15882-2	.;CHIN_HUMAN;.	K	324;199;140;298;116;99;142;150	ENSP00000386741:E324K;ENSP00000295497:E199K;ENSP00000386469:E140K;ENSP00000386470:E298K;ENSP00000386322:E116K;ENSP00000411911:E99K;ENSP00000410496:E142K;ENSP00000409798:E150K	ENSP00000295497:E199K	E	-	1	0	CHN1	175382011	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.776000	0.85560	2.398000	0.81561	0.455000	0.32223	GAG		0.318	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1		NM_001822		9	32	0	0	0	1	0	9	32		
TTN	7273	broad.mit.edu	37	2	179399910	179399910	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:179399910G>A	ENST00000591111.1	-	308	96733	c.96509C>T	c.(96508-96510)tCa>tTa	p.S32170L	TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S24871L|TTN_ENST00000460472.2_Missense_Mutation_p.S24746L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S24938L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S33811L|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S31243L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32170					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCTTGGTTGAAGAGTGAGA	0.408																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(93727-93729)TCA>TTA		titin isoform N2-A							117.0	111.0	113.0					2																	179399910		1877	4108	5985	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179399910G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.96509C>T	2.37:g.179399910G>A	ENSP00000465570:p.Ser32170Leu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S24938L|TTN_uc010zfi.1_Missense_Mutation_p.S24871L|TTN_uc010zfj.1_Missense_Mutation_p.S24746L	p.S31243L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	93952	-			32170					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.93728C>T		.	.	.	.	.	.	.	.	.	.	G	9.832	1.188742	0.21954	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64803	-0.12;0.12;0.1;0.09	5.82	2.55	0.30701	Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.44973	0.1319	N	0.08118	0	0.27976	N	0.936211	B;B;B;B	0.21606	0.058;0.058;0.058;0.058	B;B;B;B	0.18561	0.011;0.011;0.022;0.022	T	0.39231	-0.9624	9	0.87932	D	0	.	15.8263	0.78709	0.0:0.0:0.6621:0.3379	.	24746;24871;24938;32170	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	31243;24746;24938;24871;24743	ENSP00000343764:S31243L;ENSP00000434586:S24746L;ENSP00000340554:S24938L;ENSP00000352154:S24871L	ENSP00000340554:S24938L	S	-	2	0	TTN	179108156	0.997000	0.39634	0.951000	0.38953	0.980000	0.70556	3.330000	0.52068	0.155000	0.19261	-0.319000	0.08680	TCA		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		18	59	0	0	0	1	0	18	59		
TTN	7273	broad.mit.edu	37	2	179478785	179478785	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:179478785G>A	ENST00000591111.1	-	212	44640	c.44416C>T	c.(44416-44418)Cag>Tag	p.Q14806*	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q7507*|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q7382*|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q7574*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.Q16447*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q13879*|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14806	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACCAAACTGATATTTGGCT	0.343																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(41635-41637)CAG>TAG		titin isoform N2-A							102.0	94.0	97.0					2																	179478785		1849	4103	5952	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179478785G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.44416C>T	2.37:g.179478785G>A	ENSP00000465570:p.Gln14806*					uc002ump.1_RNA|TTN_uc010zfh.1_Nonsense_Mutation_p.Q7574*|TTN_uc010zfi.1_Nonsense_Mutation_p.Q7507*|TTN_uc010zfj.1_Nonsense_Mutation_p.Q7382*	p.Q13879*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		211	41859	-			14806					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.41635C>T		.	.	.	.	.	.	.	.	.	.	G	59	35.765842	0.99983	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.07	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.7878	0.34832	0.2:0.0:0.8:0.0	.	.	.	.	X	13879;7382;7574;7507;7382	.	ENSP00000340554:Q7574X	Q	-	1	0	TTN	179187030	0.997000	0.39634	0.029000	0.17559	0.770000	0.43624	2.174000	0.42482	2.885000	0.99019	0.655000	0.94253	CAG		0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		7	19	0	0	0	1	0	7	19		
TTN	7273	broad.mit.edu	37	2	179640629	179640629	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:179640629C>T	ENST00000591111.1	-	28	6186	c.5962G>A	c.(5962-5964)Gaa>Aaa	p.E1988K	TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E1942K|TTN_ENST00000460472.2_Missense_Mutation_p.E1942K|TTN_ENST00000360870.5_Missense_Mutation_p.E1988K|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E1942K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E1988K|TTN_ENST00000342992.6_Missense_Mutation_p.E1988K|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	12808					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCACTTTTTCATGGGTAATT	0.443																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(5962-5964)GAA>AAA		titin isoform N2-A							122.0	129.0	127.0					2																	179640629		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640629C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5962G>A	2.37:g.179640629C>T	ENSP00000465570:p.Glu1988Lys					TTN_uc010zfh.1_Missense_Mutation_p.E1942K|TTN_uc010zfi.1_Missense_Mutation_p.E1942K|TTN_uc010zfj.1_Missense_Mutation_p.E1942K|TTN_uc002unb.2_Missense_Mutation_p.E1988K|uc002unc.1_5'Flank	p.E1988K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6186	-			1988					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.5962G>A		.	.	.	.	.	.	.	.	.	.	C	13.16	2.153115	0.38021	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.63417	-0.04;0.2;0.18;0.17;0.34	5.12	5.12	0.69794	Ribonuclease H-like (1);	.	.	.	.	T	0.72938	0.3523	L	0.36672	1.1	0.41184	D	0.986252	D;D;D;D;D	0.89917	0.997;0.997;0.997;0.997;1.0	D;D;D;D;D	0.87578	0.985;0.985;0.985;0.985;0.998	T	0.76558	-0.2915	9	0.87932	D	0	.	18.5589	0.91094	0.0:1.0:0.0:0.0	.	1942;1942;1942;1988;1988	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	1988;1942;1942;1942;1942;1988	ENSP00000343764:E1988K;ENSP00000434586:E1942K;ENSP00000340554:E1942K;ENSP00000352154:E1942K;ENSP00000354117:E1988K	ENSP00000340554:E1942K	E	-	1	0	TTN	179348874	1.000000	0.71417	0.997000	0.53966	0.761000	0.43186	7.779000	0.85648	2.387000	0.81309	0.609000	0.83330	GAA		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		41	149	0	0	0	1	0	41	149		
ZNF385B	151126	broad.mit.edu	37	2	180348114	180348114	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:180348114G>C	ENST00000410066.1	-	6	1158	c.555C>G	c.(553-555)gtC>gtG	p.V185V	ZNF385B_ENST00000336917.5_Silent_p.V83V|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Silent_p.V109V|ZNF385B_ENST00000409692.1_Silent_p.V83V	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	185	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CTAGTGCTTTGACCTTCTTGG	0.458																																					Colon(155;204 2491 32774 51842)	uc002unn.3		NaN																	0				ovary(1)	1						c.(553-555)GTC>GTG		zinc finger protein 385B isoform 1							337.0	289.0	305.0					2																	180348114		2203	4300	6503	SO:0001819	synonymous_variant	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180348114G>C	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.555C>G	2.37:g.180348114G>C						ZNF385B_uc002unj.2_Silent_p.V83V|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_Silent_p.V82V|ZNF385B_uc002unm.2_Silent_p.V109V	p.V185V	NM_152520	NP_689733	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		6	1159	-			185			Matrin-type 2.		Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Silent	SNP	ENST00000410066.1	37	c.555C>G	CCDS33339.1																																																																																				0.458	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1		NM_152520		10	66	0	0	0	1	0	10	66		
STAT1	6772	broad.mit.edu	37	2	191854376	191854376	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:191854376C>T	ENST00000361099.3	-	12	1449	c.1062G>A	c.(1060-1062)ctG>ctA	p.L354L	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.L354L|STAT1_ENST00000392323.2_Silent_p.L356L|STAT1_ENST00000392322.3_Silent_p.L354L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	354					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			AATTATAATTCAGCTCTTGCA	0.249																																						uc002usj.2		NaN																	0				lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10						c.(1060-1062)CTG>CTA		signal transducer and activator of transcription	Fludarabine(DB01073)						24.0	26.0	25.0					2																	191854376		2179	4281	6460	SO:0001819	synonymous_variant	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191854376C>T		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1062G>A	2.37:g.191854376C>T						STAT1_uc010fse.1_Silent_p.L354L|STAT1_uc002usk.2_Silent_p.L354L|STAT1_uc002usl.2_Silent_p.L356L|STAT1_uc010fsf.1_Silent_p.L166L	p.L354L	NM_007315	NP_009330	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		12	1450	-			354					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Silent	SNP	ENST00000361099.3	37	c.1062G>A	CCDS2309.1																																																																																				0.249	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3		NM_007315		4	5	0	0	0	1	0	4	5		
HECW2	57520	broad.mit.edu	37	2	197157303	197157303	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:197157303C>T	ENST00000260983.3	-	14	3168	c.2986G>A	c.(2986-2988)Gat>Aat	p.D996N	RN7SL820P_ENST00000583941.1_RNA|HECW2_ENST00000409111.1_Missense_Mutation_p.D640N	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	996	Interaction with TP73.|WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				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)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCCTGGTGATCATGTTTCATT	0.552																																						uc002utm.1		NaN																	0				skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(2986-2988)GAT>AAT		HECT, C2 and WW domain containing E3 ubiquitin							218.0	162.0	181.0					2																	197157303		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197157303C>T	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2986G>A	2.37:g.197157303C>T	ENSP00000260983:p.Asp996Asn					HECW2_uc002utl.1_Missense_Mutation_p.D640N	p.D996N	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			14	3169	-			996			Interaction with TP73.|WW 2.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.2986G>A	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055497	0.93793	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.85629	-2.01;-2.01	5.09	5.09	0.68999	WW/Rsp5/WWP (6);	0.051031	0.85682	D	0.000000	D	0.93249	0.7849	M	0.84585	2.705	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.93933	0.7216	10	0.72032	D	0.01	.	18.6786	0.91539	0.0:1.0:0.0:0.0	.	996	Q9P2P5	HECW2_HUMAN	N	640;996	ENSP00000386775:D640N;ENSP00000260983:D996N	ENSP00000260983:D996N	D	-	1	0	HECW2	196865548	1.000000	0.71417	0.981000	0.43875	0.916000	0.54674	7.300000	0.78841	2.647000	0.89833	0.655000	0.94253	GAT		0.552	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3		NM_020760		29	84	0	0	0	1	0	29	84		
HSPD1	3329	broad.mit.edu	37	2	198353941	198353941	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:198353941G>A	ENST00000388968.3	-	9	1267	c.1000C>T	c.(1000-1002)Ctt>Ttt	p.L334F	HSPD1_ENST00000345042.2_Missense_Mutation_p.L334F	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	334					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			ACGTCTTCAAGATTCAGGGTC	0.398																																						uc002uui.2		NaN																	0					0						c.(1000-1002)CTT>TTT		chaperonin							58.0	58.0	58.0					2																	198353941		2203	4300	6503	SO:0001583	missense	3329				'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding	g.chr2:198353941G>A	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.1000C>T	2.37:g.198353941G>A	ENSP00000373620:p.Leu334Phe					HSPD1_uc002uuj.2_Missense_Mutation_p.L332F|HSPD1_uc010zgx.1_Missense_Mutation_p.L325F|HSPD1_uc010fsm.2_Missense_Mutation_p.L145F|HSPD1_uc002uuk.2_Missense_Mutation_p.L334F	p.L334F	NM_002156	NP_002147	P10809	CH60_HUMAN	Epithelial(96;0.225)		9	1137	-			334					B2R5M6|B7Z712|Q38L19|Q9UCR6	Missense_Mutation	SNP	ENST00000388968.3	37	c.1000C>T	CCDS33357.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813861	0.32053	.	.	ENSG00000144381	ENST00000388968;ENST00000345042;ENST00000536745	T;T	0.73363	-0.74;-0.74	4.99	3.17	0.36434	.	0.401950	0.27861	N	0.017541	D	0.86602	0.5972	M	0.91872	3.25	0.80722	D	1	D;P;P	0.53312	0.959;0.911;0.84	D;P;P	0.64144	0.922;0.818;0.806	D	0.86246	0.1646	10	0.87932	D	0	-7.676	10.4519	0.44526	0.0:0.2734:0.52:0.2066	.	325;334;334	B7Z597;B3GQS7;P10809	.;.;CH60_HUMAN	F	334;334;190	ENSP00000373620:L334F;ENSP00000340019:L334F	ENSP00000340019:L334F	L	-	1	0	HSPD1	198062186	1.000000	0.71417	0.970000	0.41538	0.264000	0.26372	1.175000	0.31944	0.227000	0.20999	-2.056000	0.00403	CTT		0.398	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2		NM_002156		19	42	0	0	0	1	0	19	42		
NIF3L1	60491	broad.mit.edu	37	2	201760084	201760084	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:201760084C>T	ENST00000409020.1	+	4	991	c.697C>T	c.(697-699)Cag>Tag	p.Q233*	NIF3L1_ENST00000416651.1_Nonsense_Mutation_p.Q233*|NIF3L1_ENST00000409357.1_Nonsense_Mutation_p.Q233*|NIF3L1_ENST00000359683.4_Nonsense_Mutation_p.Q206*|NIF3L1_ENST00000409588.1_Nonsense_Mutation_p.Q233*			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	233					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						ACAACTTTATCAGAAGACGGA	0.348																																						uc002uwm.2		NaN																	0				skin(1)	1						c.(697-699)CAG>TAG		NIF3 NGG1 interacting factor 3-like 1 isoform 1							122.0	109.0	113.0					2																	201760084		1817	4079	5896	SO:0001587	stop_gained	60491				positive regulation of transcription, DNA-dependent		transcription factor binding	g.chr2:201760084C>T	AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"""NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1"", ""NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"""	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.697C>T	2.37:g.201760084C>T	ENSP00000386394:p.Gln233*					NIF3L1_uc002uwl.2_Nonsense_Mutation_p.Q206*|NIF3L1_uc002uwn.2_Nonsense_Mutation_p.Q206*|NIF3L1_uc002uwo.2_Nonsense_Mutation_p.Q233*|NIF3L1_uc002uwp.2_Nonsense_Mutation_p.Q233*|NIF3L1_uc002uwq.2_Nonsense_Mutation_p.Q233*	p.Q233*	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN			4	788	+			233					Q53TX4|Q6X735|Q9H2D2|Q9HC18	Nonsense_Mutation	SNP	ENST00000409020.1	37	c.697C>T	CCDS46485.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637819	0.67130	.	.	ENSG00000196290	ENST00000426253;ENST00000416651;ENST00000409020;ENST00000359683;ENST00000409357;ENST00000374679;ENST00000409588	.	.	.	5.47	3.5	0.40072	.	0.374369	0.30356	N	0.009814	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-4.9165	14.1088	0.65109	0.0:0.7142:0.2858:0.0	.	.	.	.	X	206;233;233;206;233;233;233	.	ENSP00000352711:Q206X	Q	+	1	0	NIF3L1	201468329	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	1.190000	0.32126	1.399000	0.46721	0.655000	0.94253	CAG		0.348	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336201.1		NM_021824		17	57	0	0	0	1	0	17	57		
NIF3L1	60491	broad.mit.edu	37	2	201768234	201768234	+	Missense_Mutation	SNP	G	G	A	rs569758765	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:201768234G>A	ENST00000409020.1	+	7	1261	c.967G>A	c.(967-969)Gat>Aat	p.D323N	NIF3L1_ENST00000416651.1_Missense_Mutation_p.D323N|NIF3L1_ENST00000409357.1_Missense_Mutation_p.D323N|NIF3L1_ENST00000359683.4_Missense_Mutation_p.D296N|NIF3L1_ENST00000409588.1_Missense_Mutation_p.M276I			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	323					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						GTCCCATCATGATACTTTGGA	0.408													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20217	0.0		0.0	False		,,,				2504	0.0					uc002uwm.2		NaN																	0				skin(1)	1						c.(967-969)GAT>AAT		NIF3 NGG1 interacting factor 3-like 1 isoform 1							154.0	148.0	150.0					2																	201768234		1895	4118	6013	SO:0001583	missense	60491				positive regulation of transcription, DNA-dependent		transcription factor binding	g.chr2:201768234G>A	AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"""NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1"", ""NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"""	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.967G>A	2.37:g.201768234G>A	ENSP00000386394:p.Asp323Asn					NIF3L1_uc002uwl.2_Missense_Mutation_p.D296N|NIF3L1_uc002uwn.2_Missense_Mutation_p.D296N|NIF3L1_uc002uwo.2_Missense_Mutation_p.D323N|NIF3L1_uc002uwp.2_Missense_Mutation_p.D323N|NIF3L1_uc002uwq.2_Missense_Mutation_p.M276I	p.D323N	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN			7	1058	+			323					Q53TX4|Q6X735|Q9H2D2|Q9HC18	Missense_Mutation	SNP	ENST00000409020.1	37	c.967G>A	CCDS46485.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.53|19.53	3.844605|3.844605	0.71488|0.71488	.|.	.|.	ENSG00000196290|ENSG00000196290	ENST00000416651;ENST00000409020;ENST00000359683;ENST00000409357|ENST00000409588	T;T;T;T|.	0.46063|.	0.88;0.88;0.88;0.88|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.090320|.	0.85682|.	D|.	0.000000|.	T|T	0.50633|0.50633	0.1627|0.1627	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	P|B	0.37083|0.32245	0.581|0.361	B|B	0.43889|0.28139	0.435|0.086	T|T	0.46965|0.46965	-0.9153|-0.9153	9|7	0.54805|0.33940	T|T	0.06|0.23	-21.908|-21.908	19.3851|19.3851	0.94553|0.94553	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	323|276	Q9GZT8|Q6X735	NIF3L_HUMAN|.	N|I	323;323;296;323|276	ENSP00000400787:D323N;ENSP00000386394:D323N;ENSP00000352711:D296N;ENSP00000387315:D323N|.	ENSP00000352711:D296N|ENSP00000387021:M276I	D|M	+|+	1|3	0|0	NIF3L1|NIF3L1	201476479|201476479	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.949000|0.949000	0.60115|0.60115	7.459000|7.459000	0.80802|0.80802	2.656000|2.656000	0.90262|0.90262	0.557000|0.557000	0.71058|0.71058	GAT|ATG		0.408	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336201.1		NM_021824		23	68	0	0	0	1	0	23	68		
CASP8	841	broad.mit.edu	37	2	202139648	202139648	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:202139648C>G	ENST00000432109.2	+	7	821	c.632C>G	c.(631-633)tCt>tGt	p.S211C	CASP8_ENST00000358485.4_Missense_Mutation_p.S270C|CASP8_ENST00000323492.7_Missense_Mutation_p.S196C|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000392259.2_Intron|CASP8_ENST00000392266.3_Intron|CASP8_ENST00000392258.3_Intron|CASP8_ENST00000264275.5_Missense_Mutation_p.S228C	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	211					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ATCTCGGACTCTCCAAGAGAA	0.388										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1		NaN																	0				upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						c.(631-633)TCT>TGT		caspase 8 isoform B precursor							139.0	124.0	129.0					2																	202139648		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202139648C>G	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.632C>G	2.37:g.202139648C>G	ENSP00000412523:p.Ser211Cys	HNSCC(4;0.00038)				CASP8_uc002uxo.1_Intron|CASP8_uc002uxp.1_Missense_Mutation_p.S228C|CASP8_uc002uxq.1_Missense_Mutation_p.S196C|CASP8_uc002uxt.1_Missense_Mutation_p.S270C|CASP8_uc002uxu.1_RNA|CASP8_uc002uxv.1_Missense_Mutation_p.S196C|CASP8_uc002uxw.1_Missense_Mutation_p.S196C|CASP8_uc002uxy.1_Missense_Mutation_p.S211C|CASP8_uc002uxx.1_Missense_Mutation_p.S196C|CASP8_uc010ftf.2_Intron|CASP8_uc010fte.1_Intron	p.S211C	NM_033355	NP_203519	Q14790	CASP8_HUMAN			7	841	+			211					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.632C>G	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.249037	0.22880	.	.	ENSG00000064012	ENST00000392263;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000358485;ENST00000392261;ENST00000323492	T;T;T;T;T;T	0.48201	4.32;4.3;4.3;0.82;4.28;4.32	3.7	0.766	0.18476	DEATH-like (1);	3.129970	0.00868	N	0.001990	T	0.34629	0.0904	N	0.19112	0.55	0.20563	N	0.999886	B;B;B;B;B;B	0.19445	0.036;0.008;0.007;0.006;0.011;0.009	B;B;B;B;B;B	0.18561	0.022;0.007;0.01;0.006;0.015;0.01	T	0.25257	-1.0137	10	0.51188	T	0.08	.	5.8153	0.18490	0.0:0.4499:0.4338:0.1163	.	211;196;270;211;196;228	Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;.;CASP8_HUMAN;.;.	C	196;211;228;93;270;196;196	ENSP00000376091:S196C;ENSP00000412523:S211C;ENSP00000264275:S228C;ENSP00000391709:S93C;ENSP00000351273:S270C;ENSP00000325722:S196C	ENSP00000264275:S228C	S	+	2	0	CASP8	201847893	0.028000	0.19301	0.145000	0.22337	0.758000	0.43043	-0.437000	0.06914	0.141000	0.18875	0.205000	0.17691	TCT		0.388	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2		NM_001228		11	27	0	0	0	1	0	11	27		
ALS2CR11	151254	broad.mit.edu	37	2	202430471	202430471	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:202430471G>C	ENST00000286195.3	-	9	1002	c.958C>G	c.(958-960)Cag>Gag	p.Q320E	ALS2CR11_ENST00000439140.1_Missense_Mutation_p.Q320E|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.Q320E|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.Q320E	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	320										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						GGTTGTTGCTGAAGTTTTTCA	0.358																																						uc002uye.2		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(958-960)CAG>GAG		amyotrophic lateral sclerosis 2 (juvenile)							54.0	52.0	53.0					2																	202430471		2203	4300	6503	SO:0001583	missense	151254							g.chr2:202430471G>C	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.958C>G	2.37:g.202430471G>C	ENSP00000286195:p.Gln320Glu					ALS2CR11_uc002uyf.2_Missense_Mutation_p.Q320E|ALS2CR11_uc010fti.2_Missense_Mutation_p.Q320E	p.Q320E	NM_152525	NP_689738	Q53TS8	AL2SA_HUMAN			9	1006	-			320					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	ENST00000286195.3	37	c.958C>G	CCDS2349.1	.	.	.	.	.	.	.	.	.	.	G	9.241	1.038177	0.19669	.	.	ENSG00000155754	ENST00000286195;ENST00000439802;ENST00000439140;ENST00000450242	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.42	3.54	0.40534	.	0.666493	0.13723	N	0.367279	T	0.42517	0.1206	L	0.59436	1.845	0.09310	N	0.999992	P;B;B	0.50819	0.939;0.0;0.049	P;B;B	0.46940	0.532;0.001;0.018	T	0.28650	-1.0037	10	0.52906	T	0.07	.	6.3256	0.21242	0.0852:0.0:0.5838:0.331	.	320;320;320	Q53TS8-2;E9PGG4;Q53TS8	.;.;AL2SA_HUMAN	E	320	ENSP00000286195:Q320E;ENSP00000400672:Q320E;ENSP00000409937:Q320E;ENSP00000399016:Q320E	ENSP00000286195:Q320E	Q	-	1	0	ALS2CR11	202138716	0.862000	0.29867	0.098000	0.21074	0.901000	0.52897	1.066000	0.30604	0.587000	0.29643	0.563000	0.77884	CAG		0.358	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2		NM_152525		4	12	0	0	0	1	0	4	12		
CARF	79800	broad.mit.edu	37	2	203847053	203847053	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:203847053G>C	ENST00000402905.3	+	15	2269	c.1948G>C	c.(1948-1950)Gaa>Caa	p.E650Q	CARF_ENST00000414439.1_Missense_Mutation_p.E548Q|CARF_ENST00000320443.8_Missense_Mutation_p.E650Q|CARF_ENST00000545253.1_Missense_Mutation_p.E562Q|WDR12_ENST00000477723.1_Intron|CARF_ENST00000545262.1_Missense_Mutation_p.E574Q|CARF_ENST00000428585.1_Missense_Mutation_p.E574Q|CARF_ENST00000438828.2_Missense_Mutation_p.E650Q	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	650					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CGAGCTGGTAGAAGTTGGAGA	0.428																																						uc002uzo.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1948-1950)GAA>CAA		amyotrophic lateral sclerosis 2 (juvenile)							91.0	88.0	89.0					2																	203847053		1920	4143	6063	SO:0001583	missense	79800							g.chr2:203847053G>C	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.1948G>C	2.37:g.203847053G>C	ENSP00000384006:p.Glu650Gln					ALS2CR8_uc010zia.1_Missense_Mutation_p.E574Q|ALS2CR8_uc010zib.1_Missense_Mutation_p.E574Q|ALS2CR8_uc010zic.1_Missense_Mutation_p.E562Q|ALS2CR8_uc002uzp.2_Missense_Mutation_p.E650Q	p.E650Q	NM_001104586	NP_001098056	Q8N187	AL2S8_HUMAN			15	2228	+			650					B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	37	c.1948G>C	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.344351	0.24339	.	.	ENSG00000138380	ENST00000402905;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000320443;ENST00000438828	.	.	.	5.83	4.02	0.46733	.	0.503515	0.20770	N	0.086015	T	0.40694	0.1127	L	0.54323	1.7	0.09310	N	0.999996	B;B;B	0.27416	0.178;0.056;0.178	B;B;B	0.27887	0.084;0.084;0.084	T	0.27226	-1.0080	9	0.33141	T	0.24	-7.5369	9.0147	0.36161	0.0758:0.2824:0.6418:0.0	.	562;574;650	B4DIA7;G3V1K7;Q8N187	.;.;AL2S8_HUMAN	Q	650;548;574;562;574;650;650	.	ENSP00000316224:E650Q	E	+	1	0	ALS2CR8	203555298	0.989000	0.36119	0.582000	0.28627	0.659000	0.38960	2.026000	0.41069	1.464000	0.47987	0.655000	0.94253	GAA		0.428	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5		NM_001104586		10	42	0	0	0	1	0	10	42		
NBEAL1	65065	broad.mit.edu	37	2	204002904	204002904	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:204002904G>C	ENST00000449802.1	+	29	4831	c.4498G>C	c.(4498-4500)Gaa>Caa	p.E1500Q		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1500										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AAAGATGTTAGAATGGGCAAT	0.358																																						uc002uzt.3		NaN																	0				ovary(1)|skin(1)	2						c.(4498-4500)GAA>CAA		neurobeachin-like 1 isoform 3							79.0	71.0	73.0					2																	204002904		1844	4092	5936	SO:0001583	missense	65065						binding	g.chr2:204002904G>C	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.4498G>C	2.37:g.204002904G>C	ENSP00000399903:p.Glu1500Gln					NBEAL1_uc002uzs.3_Missense_Mutation_p.E210Q	p.E1500Q	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN			29	4831	+			1500					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.4498G>C	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728042	0.89390	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.58797	0.31	5.61	5.61	0.85477	.	0.260668	0.37623	N	0.002019	T	0.72479	0.3465	L	0.49350	1.555	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.71481	-0.4580	10	0.49607	T	0.09	.	19.2377	0.93867	0.0:0.0:1.0:0.0	.	1500;1489	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	Q	1500	ENSP00000399903:E1500Q	ENSP00000344985:E1500Q	E	+	1	0	NBEAL1	203711149	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.028000	0.93712	2.650000	0.89964	0.655000	0.94253	GAA		0.358	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4				12	32	0	0	0	1	0	12	32		
RAPH1	65059	broad.mit.edu	37	2	204354725	204354725	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:204354725G>A	ENST00000319170.5	-	4	613	c.314C>T	c.(313-315)tCa>tTa	p.S105L	RAPH1_ENST00000374488.2_Missense_Mutation_p.S105L|RAPH1_ENST00000308091.4_Missense_Mutation_p.S105L|RAPH1_ENST00000374493.3_Missense_Mutation_p.S105L|RAPH1_ENST00000439222.1_Missense_Mutation_p.S105L|RAPH1_ENST00000419464.1_Missense_Mutation_p.S105L|RAPH1_ENST00000418114.1_Missense_Mutation_p.S105L|RAPH1_ENST00000374489.2_Missense_Mutation_p.S105L|RAPH1_ENST00000453034.1_Missense_Mutation_p.S105L|RAPH1_ENST00000457812.1_Missense_Mutation_p.S105L|RAPH1_ENST00000423104.1_Missense_Mutation_p.S105L	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	105					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTGTTTCCTGAACCAATGCT	0.443																																						uc002vad.2		NaN																	0				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						c.(313-315)TCA>TTA		Ras association and pleckstrin homology domains							181.0	177.0	178.0					2																	204354725		2203	4300	6503	SO:0001583	missense	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204354725G>A	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.314C>T	2.37:g.204354725G>A	ENSP00000316543:p.Ser105Leu					RAPH1_uc002vae.2_Missense_Mutation_p.S105L|RAPH1_uc002vaf.2_Missense_Mutation_p.S105L	p.S105L	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN			4	539	-			105					Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	c.314C>T	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935861	0.73442	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201;ENST00000428637	T;T;T;T;T;T;T;T;T;T;T	0.50813	0.8;0.82;0.73;0.75;0.75;0.75;0.75;0.8;0.75;0.74;0.8	5.78	5.78	0.91487	.	0.158814	0.29876	N	0.010975	T	0.43942	0.1270	L	0.40543	1.245	0.47905	D	0.999546	B;B;B	0.27853	0.089;0.041;0.191	B;B;B	0.26969	0.075;0.021;0.073	T	0.20140	-1.0284	10	0.33940	T	0.23	-4.0369	20.0044	0.97430	0.0:0.0:1.0:0.0	.	105;105;105	Q70E73-6;C9K0J5;Q70E73	.;.;RAPH1_HUMAN	L	105	ENSP00000392854:S105L;ENSP00000316543:S105L;ENSP00000363617:S105L;ENSP00000363613:S105L;ENSP00000363612:S105L;ENSP00000311293:S105L;ENSP00000411138:S105L;ENSP00000390578:S105L;ENSP00000397751:S105L;ENSP00000406662:S105L;ENSP00000396711:S105L	ENSP00000311293:S105L	S	-	2	0	RAPH1	204062970	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.006000	0.88564	2.714000	0.92807	0.650000	0.86243	TCA		0.443	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2		NM_025252		32	120	0	0	0	1	0	32	120		
RAPH1	65059	broad.mit.edu	37	2	204354805	204354805	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:204354805C>T	ENST00000319170.5	-	4	533	c.234G>A	c.(232-234)ctG>ctA	p.L78L	RAPH1_ENST00000374488.2_Silent_p.L78L|RAPH1_ENST00000308091.4_Silent_p.L78L|RAPH1_ENST00000374493.3_Silent_p.L78L|RAPH1_ENST00000439222.1_Silent_p.L78L|RAPH1_ENST00000419464.1_Silent_p.L78L|RAPH1_ENST00000418114.1_Silent_p.L78L|RAPH1_ENST00000374489.2_Silent_p.L78L|RAPH1_ENST00000453034.1_Silent_p.L78L|RAPH1_ENST00000457812.1_Silent_p.L78L|RAPH1_ENST00000423104.1_Silent_p.L78L	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	78					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTCCCTGATTCAGAGCTTCTG	0.378																																						uc002vad.2		NaN																	0				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						c.(232-234)CTG>CTA		Ras association and pleckstrin homology domains							88.0	87.0	87.0					2																	204354805		2185	4290	6475	SO:0001819	synonymous_variant	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204354805C>T	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.234G>A	2.37:g.204354805C>T						RAPH1_uc002vae.2_Silent_p.L78L|RAPH1_uc002vaf.2_Silent_p.L78L	p.L78L	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN			4	459	-			78					Q96Q37|Q9C0I2	Silent	SNP	ENST00000319170.5	37	c.234G>A	CCDS2359.1																																																																																				0.378	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2		NM_025252		17	87	0	0	0	1	0	17	87		
PARD3B	117583	broad.mit.edu	37	2	206166207	206166207	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:206166207C>T	ENST00000406610.2	+	18	2619	c.2412C>T	c.(2410-2412)agC>agT	p.S804S	PARD3B_ENST00000349953.3_Silent_p.S804S|PARD3B_ENST00000358768.2_Silent_p.S742S|PARD3B_ENST00000462231.1_Silent_p.S804S|PARD3B_ENST00000351153.1_Silent_p.S735S	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	804					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CTGATAAGAGCTCTCACTCTG	0.443																																						uc002var.1		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(2410-2412)AGC>AGT		par-3 partitioning defective 3 homolog B isoform							95.0	93.0	94.0					2																	206166207		1853	4098	5951	SO:0001819	synonymous_variant	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206166207C>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2412C>T	2.37:g.206166207C>T						PARD3B_uc010fub.1_Silent_p.S804S|PARD3B_uc002vao.1_Silent_p.S804S|PARD3B_uc002vap.1_Silent_p.S742S|PARD3B_uc002vaq.1_Silent_p.S735S	p.S804S	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	18	2619	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	804					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Silent	SNP	ENST00000406610.2	37	c.2412C>T																																																																																					0.443	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1		NM_057177		31	82	0	0	0	1	0	31	82		
INO80D	54891	broad.mit.edu	37	2	206882459	206882459	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:206882459G>A	ENST00000403263.1	-	8	1891	c.1487C>T	c.(1486-1488)cCa>cTa	p.P496L		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	496					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GTCAAAAACTGGCACAGAGCA	0.428																																						uc002vaz.3		NaN																	0				ovary(1)	1						c.(1486-1488)CCA>CTA		INO80 complex subunit D							104.0	104.0	104.0					2																	206882459		1890	4136	6026	SO:0001583	missense	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206882459G>A		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.1487C>T	2.37:g.206882459G>A	ENSP00000384198:p.Pro496Leu						p.P496L	NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN			8	1892	-			496					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	c.1487C>T	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	G	32	5.149078	0.94645	.	.	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000424117	T;T	0.56776	0.44;0.44	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.76234	0.3959	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80079	-0.1532	10	0.87932	D	0	.	18.9544	0.92653	0.0:0.0:1.0:0.0	.	496	Q53TQ3-2	.	L	496;496;391	ENSP00000384198:P496L;ENSP00000402369:P391L	ENSP00000233270:P496L	P	-	2	0	INO80D	206590704	1.000000	0.71417	0.990000	0.47175	0.921000	0.55340	9.857000	0.99534	2.478000	0.83669	0.655000	0.94253	CCA		0.428	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1		NM_017759		11	32	0	0	0	1	0	11	32		
ZDBF2	57683	broad.mit.edu	37	2	207169625	207169625	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:207169625C>G	ENST00000374423.3	+	5	759	c.373C>G	c.(373-375)Cag>Gag	p.Q125E		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	125							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCATAAATCTCAGGAAGGCAC	0.468																																						uc002vbp.2		NaN																	0				ovary(3)	3						c.(373-375)CAG>GAG		zinc finger, DBF-type containing 2							67.0	63.0	64.0					2																	207169625		1909	4125	6034	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207169625C>G	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.373C>G	2.37:g.207169625C>G	ENSP00000363545:p.Gln125Glu						p.Q125E	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	623	+			125					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.373C>G	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075685	0.76415	.	.	ENSG00000204186	ENST00000374423	T	0.16597	2.33	5.16	5.16	0.70880	.	0.247787	0.21261	N	0.077465	T	0.28962	0.0719	L	0.53249	1.67	0.21290	N	0.999737	D	0.63880	0.993	P	0.50049	0.629	T	0.07558	-1.0766	10	0.59425	D	0.04	.	18.6585	0.91463	0.0:1.0:0.0:0.0	.	125	Q9HCK1	ZDBF2_HUMAN	E	125	ENSP00000363545:Q125E	ENSP00000363545:Q125E	Q	+	1	0	ZDBF2	206877870	0.944000	0.32072	0.115000	0.21578	0.038000	0.13279	5.036000	0.64164	2.402000	0.81655	0.650000	0.86243	CAG		0.468	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1		NM_020923		9	27	0	0	0	1	0	9	27		
DYTN	391475	broad.mit.edu	37	2	207559580	207559580	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:207559580G>C	ENST00000452335.2	-	8	857	c.741C>G	c.(739-741)ctC>ctG	p.L247L		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	247						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TGTCAAAGTTGAGACACTTCA	0.393																																						uc002vbr.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(739-741)CTC>CTG		dystrotelin							98.0	98.0	98.0					2																	207559580		1907	4134	6041	SO:0001819	synonymous_variant	391475					plasma membrane	zinc ion binding	g.chr2:207559580G>C	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.741C>G	2.37:g.207559580G>C							p.L247L	NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)	8	858	-			247			ZZ-type.			Silent	SNP	ENST00000452335.2	37	c.741C>G	CCDS46502.1																																																																																				0.393	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1				18	47	0	0	0	1	0	18	47		
PIKFYVE	200576	broad.mit.edu	37	2	209203277	209203277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:209203277C>T	ENST00000264380.4	+	29	4815	c.4657C>T	c.(4657-4659)Cag>Tag	p.Q1553*		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1553					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TCCAGGACTTCAGAATGGAGA	0.348																																						uc002vcz.2		NaN																	0				ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(4657-4659)CAG>TAG		phosphatidylinositol-3-phosphate 5-kinase type							93.0	94.0	94.0					2																	209203277		2203	4300	6503	SO:0001587	stop_gained	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209203277C>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.4657C>T	2.37:g.209203277C>T	ENSP00000264380:p.Gln1553*						p.Q1553*	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			29	4815	+			1553					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Nonsense_Mutation	SNP	ENST00000264380.4	37	c.4657C>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	45	12.044418	0.99630	.	.	ENSG00000115020	ENST00000264380	.	.	.	5.48	5.48	0.80851	.	0.192425	0.46442	D	0.000288	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-4.1914	18.7035	0.91629	0.0:1.0:0.0:0.0	.	.	.	.	X	1553	.	ENSP00000264380:Q1553X	Q	+	1	0	PIKFYVE	208911522	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.100000	0.71473	2.749000	0.94314	0.655000	0.94253	CAG		0.348	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2		NM_015040		8	35	0	0	0	1	0	8	35		
CPS1	1373	broad.mit.edu	37	2	211476905	211476905	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:211476905C>G	ENST00000233072.5	+	20	2652	c.2456C>G	c.(2455-2457)tCt>tGt	p.S819C	CPS1_ENST00000430249.2_Missense_Mutation_p.S825C|CPS1_ENST00000451903.2_Missense_Mutation_p.S368C	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	819					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TGCCACCCATCTATAGAAGGT	0.413																																						uc002vee.3		NaN																	0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(2455-2457)TCT>TGT		carbamoyl-phosphate synthetase 1 isoform b							141.0	142.0	141.0					2																	211476905		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211476905C>G	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2456C>G	2.37:g.211476905C>G	ENSP00000233072:p.Ser819Cys					CPS1_uc010fur.2_Missense_Mutation_p.S825C|CPS1_uc010fus.2_Missense_Mutation_p.S368C	p.S819C	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	20	2588	+			819					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2456C>G	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500657	0.64298	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97665	-4.48;-4.48;-4.48	5.35	5.35	0.76521	Carbamoyl-phosphate synthetase, large subunit, oligomerisation (2);	0.111219	0.64402	D	0.000005	D	0.98406	0.9470	M	0.84585	2.705	0.50039	D	0.999841	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	D	0.98928	1.0786	10	0.66056	D	0.02	-1.9687	14.9681	0.71210	0.0:0.8576:0.1424:0.0	.	829;819	Q59HF8;P31327	.;CPSM_HUMAN	C	825;827;819;368	ENSP00000402608:S825C;ENSP00000233072:S819C;ENSP00000406136:S368C	ENSP00000233072:S819C	S	+	2	0	CPS1	211185150	1.000000	0.71417	0.240000	0.24138	0.724000	0.41520	5.475000	0.66787	2.653000	0.90120	0.557000	0.71058	TCT		0.413	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5				34	89	0	0	0	1	0	34	89		
CPS1	1373	broad.mit.edu	37	2	211513244	211513244	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:211513244G>C	ENST00000233072.5	+	27	3580	c.3384G>C	c.(3382-3384)ttG>ttC	p.L1128F	CPS1_ENST00000430249.2_Missense_Mutation_p.L1134F|CPS1_ENST00000451903.2_Missense_Mutation_p.L677F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1128	ATP-grasp 2.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CCTGCTTGTTGAGGCCTTCCT	0.333																																						uc002vee.3		NaN																	0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(3382-3384)TTG>TTC		carbamoyl-phosphate synthetase 1 isoform b							162.0	153.0	156.0					2																	211513244		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211513244G>C	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3384G>C	2.37:g.211513244G>C	ENSP00000233072:p.Leu1128Phe					CPS1_uc010fur.2_Missense_Mutation_p.L1134F|CPS1_uc010fus.2_Missense_Mutation_p.L677F	p.L1128F	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	27	3516	+			1128			ATP-grasp 2.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.3384G>C	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.906975	0.72868	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97352	-4.35;-4.35;-4.35	6.17	6.17	0.99709	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (2);	0.000000	0.85682	D	0.000000	D	0.98482	0.9494	M	0.86178	2.8	0.54753	D	0.999983	D;D	0.71674	0.998;0.996	D;D	0.72625	0.978;0.96	D	0.98931	1.0787	10	0.87932	D	0	-7.5715	16.2608	0.82541	0.0:0.1316:0.8683:0.0	.	1138;1128	Q59HF8;P31327	.;CPSM_HUMAN	F	1134;1136;1128;677	ENSP00000402608:L1134F;ENSP00000233072:L1128F;ENSP00000406136:L677F	ENSP00000233072:L1128F	L	+	3	2	CPS1	211221489	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.824000	0.62701	2.941000	0.99782	0.655000	0.94253	TTG		0.333	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5				21	79	0	0	0	1	0	21	79		
ABCA12	26154	broad.mit.edu	37	2	215875150	215875150	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:215875150C>G	ENST00000272895.7	-	18	2596	c.2377G>C	c.(2377-2379)Gct>Cct	p.A793P	ABCA12_ENST00000389661.4_Missense_Mutation_p.A475P	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	793					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACAGGTCCAGCGGGCATGTTA	0.373																																					Ovarian(66;664 1488 5121 34295)	uc002vew.2		NaN																	0				ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(2377-2379)GCT>CCT		ATP-binding cassette, sub-family A, member 12							95.0	92.0	93.0					2																	215875150		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215875150C>G	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2377G>C	2.37:g.215875150C>G	ENSP00000272895:p.Ala793Pro					ABCA12_uc002vev.2_Missense_Mutation_p.A475P|ABCA12_uc010zjn.1_5'UTR	p.A793P	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	18	2597	-		Renal(323;0.127)	793					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.2377G>C	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680411	0.68042	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.09911	2.93;2.93	5.38	5.38	0.77491	.	0.286172	0.30771	N	0.008904	T	0.15912	0.0383	L	0.34521	1.04	0.80722	D	1	D;P	0.76494	0.999;0.947	P;P	0.62184	0.899;0.828	T	0.03068	-1.1076	10	0.26408	T	0.33	.	7.3389	0.26625	0.0:0.795:0.0:0.205	.	793;475	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	P	793;475	ENSP00000272895:A793P;ENSP00000374312:A475P	ENSP00000272895:A793P	A	-	1	0	ABCA12	215583395	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	3.553000	0.53713	2.667000	0.90743	0.591000	0.81541	GCT		0.373	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1		NM_173076		10	27	0	0	0	1	0	10	27		
TNS1	7145	broad.mit.edu	37	2	218674590	218674590	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:218674590G>C	ENST00000171887.4	-	30	5369	c.4917C>G	c.(4915-4917)ttC>ttG	p.F1639L	TNS1_ENST00000430930.1_Missense_Mutation_p.F1618L|TNS1_ENST00000419504.1_Missense_Mutation_p.F1625L	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1639					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CAGAGACTTTGAAGTGAACGA	0.552																																						uc002vgt.2		NaN																	0				ovary(3)|breast(1)	4						c.(4915-4917)TTC>TTG		tensin							105.0	91.0	96.0					2																	218674590		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218674590G>C	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.4917C>G	2.37:g.218674590G>C	ENSP00000171887:p.Phe1639Leu					TNS1_uc002vgr.2_Missense_Mutation_p.F1625L|TNS1_uc002vgs.2_Missense_Mutation_p.F1618L|TNS1_uc002vgq.2_Missense_Mutation_p.F139L	p.F1639L	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	30	5315	-		Renal(207;0.0483)|Lung NSC(271;0.213)	1639					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.4917C>G	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	g	16.21	3.058041	0.55325	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	4.38	3.48	0.39840	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.27241	0.0668	M	0.69248	2.105	0.80722	D	1	B;B;B	0.18013	0.025;0.006;0.02	B;B;B	0.28553	0.031;0.015;0.091	T	0.13202	-1.0518	10	0.66056	D	0.02	.	13.5935	0.61975	0.0:0.0:0.8434:0.1566	.	1639;1618;1625	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	L	1639;777;1625;1618	ENSP00000171887:F1639L;ENSP00000394171:F777L;ENSP00000408724:F1625L;ENSP00000406016:F1618L	ENSP00000171887:F1639L	F	-	3	2	TNS1	218382835	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.515000	0.60489	1.036000	0.39998	0.387000	0.25754	TTC		0.552	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2		NM_022648		13	43	0	0	0	1	0	13	43		
ARPC2	10109	broad.mit.edu	37	2	219114098	219114098	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:219114098C>T	ENST00000295685.10	+	8	949	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	ARPC2_ENST00000315717.5_Missense_Mutation_p.R230C|ARPC2_ENST00000477992.1_3'UTR	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	230					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		GCTGTTCCCTCGTCACACCAA	0.542																																						uc002vhd.2		NaN																	0				ovary(1)	1						c.(688-690)CGT>TGT		actin related protein 2/3 complex subunit 2							161.0	109.0	126.0					2																	219114098		2203	4300	6503	SO:0001583	missense	10109				cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton	g.chr2:219114098C>T	AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.688C>T	2.37:g.219114098C>T	ENSP00000295685:p.Arg230Cys					ARPC2_uc002vhe.2_Missense_Mutation_p.R230C|ARPC2_uc002vhf.2_Missense_Mutation_p.R116C	p.R230C	NM_152862	NP_690601	O15144	ARPC2_HUMAN		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)	9	800	+		Renal(207;0.0474)	230					Q92801|Q9P1D4	Missense_Mutation	SNP	ENST00000295685.10	37	c.688C>T	CCDS2410.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455270	0.84209	.	.	ENSG00000163466	ENST00000315717;ENST00000295685;ENST00000456575	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.67859	0.2938	M	0.87456	2.885	0.80722	D	1	P	0.37731	0.607	B	0.27076	0.076	T	0.74047	-0.3790	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	230	O15144	ARPC2_HUMAN	C	230;230;45	.	ENSP00000295685:R230C	R	+	1	0	ARPC2	218822343	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.783000	0.85696	2.941000	0.99782	0.655000	0.94253	CGT		0.542	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2		NM_005731		11	31	0	0	0	1	0	11	31		
NHEJ1	79840	broad.mit.edu	37	2	220022967	220022967	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:220022967C>T	ENST00000356853.5	-	2	251	c.118G>A	c.(118-120)Gat>Aat	p.D40N	NHEJ1_ENST00000409720.1_Missense_Mutation_p.D40N	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	40	Globular head.				B cell differentiation (GO:0030183)|central nervous system development (GO:0007417)|DNA recombination (GO:0006310)|double-strand break repair via nonhomologous end joining (GO:0006303)|positive regulation of ligase activity (GO:0051351)|response to ionizing radiation (GO:0010212)|T cell differentiation (GO:0030217)	nonhomologous end joining complex (GO:0070419)|nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		TGTTGAAGATCTGAAACCAAC	0.527								Non-homologous end-joining																														uc002vjp.3		NaN																	0				lung(1)	1						c.(118-120)GAT>AAT	Direct_reversal_of_damage|NHEJ	nonhomologous end-joining factor 1							154.0	135.0	141.0					2																	220022967		2203	4300	6503	SO:0001583	missense	79840				B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding	g.chr2:220022967C>T	AJ972687	CCDS2432.1	2q35	2014-09-17			ENSG00000187736	ENSG00000187736			25737	protein-coding gene	gene with protein product		611290				16439204, 16439205	Standard	NM_024782		Approved	Cernunnos, XLF, FLJ12610	uc002vjp.4	Q9H9Q4	OTTHUMG00000133127	ENST00000356853.5:c.118G>A	2.37:g.220022967C>T	ENSP00000349313:p.Asp40Asn					NHEJ1_uc002vjq.3_RNA	p.D40N	NM_024782	NP_079058	Q9H9Q4	NHEJ1_HUMAN		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)	2	264	-		Renal(207;0.0915)	40					B8ZZA4|Q4ZFW7|Q6IA64|Q96JS9	Missense_Mutation	SNP	ENST00000356853.5	37	c.118G>A	CCDS2432.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953075	0.92660	.	.	ENSG00000187736	ENST00000409720;ENST00000356853;ENST00000457600	T;T;T	0.72051	-0.62;-0.62;-0.62	5.7	5.7	0.88788	DNA double-strand break repair and VJ recombination XRCC4, N-terminal (1);	0.000000	0.85682	U	0.000000	D	0.85414	0.5691	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86392	0.1736	10	0.87932	D	0	-1.047	19.8022	0.96513	0.0:1.0:0.0:0.0	.	40	Q9H9Q4	NHEJ1_HUMAN	N	40	ENSP00000387290:D40N;ENSP00000349313:D40N;ENSP00000407201:D40N	ENSP00000349313:D40N	D	-	1	0	NHEJ1	219731211	0.998000	0.40836	0.996000	0.52242	0.859000	0.49053	3.433000	0.52834	2.683000	0.91414	0.655000	0.94253	GAT		0.527	NHEJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256817.2		NM_024782		31	121	0	0	0	1	0	31	121		
SLC23A3	151295	broad.mit.edu	37	2	220032963	220032963	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:220032963G>C	ENST00000409878.3	-	6	784	c.752C>G	c.(751-753)tCa>tGa	p.S251*	SLC23A3_ENST00000396775.3_Missense_Mutation_p.F132L|SLC23A3_ENST00000455516.2_Nonsense_Mutation_p.S259*|SLC23A3_ENST00000295738.7_Missense_Mutation_p.Q241E	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	251					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGATGACGTTGAAGCTCGCCT	0.577																																						uc010zks.1		NaN																	0					0						c.(751-753)TCA>TGA		solute carrier family 23 (nucleobase							46.0	49.0	48.0					2																	220032963		2074	4234	6308	SO:0001587	stop_gained	151295				transmembrane transport	integral to membrane	protein binding|transporter activity	g.chr2:220032963G>C	BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"""Solute carriers"""	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.752C>G	2.37:g.220032963G>C	ENSP00000386473:p.Ser251*					NHEJ1_uc002vjq.3_RNA|SLC23A3_uc010zkr.1_Nonsense_Mutation_p.S259*|SLC23A3_uc010fwb.2_Missense_Mutation_p.Q241E|SLC23A3_uc002vjs.1_Missense_Mutation_p.F103L|SLC23A3_uc002vjt.1_Missense_Mutation_p.F110L	p.S251*	NM_001144889	NP_001138361	Q6PIS1	S23A3_HUMAN		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	863	-		Renal(207;0.0474)	251			Extracellular (Potential).		B7Z512|Q2PYN6|Q96NA6	Nonsense_Mutation	SNP	ENST00000409878.3	37	c.752C>G	CCDS46518.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	13.59|13.59|13.59	2.282652|2.282652|2.282652	0.40394|0.40394|0.40394	.|.|.	.|.|.	ENSG00000213901|ENSG00000213901|ENSG00000213901	ENST00000396775|ENST00000295738|ENST00000409878;ENST00000455516;ENST00000409370	.|T|.	.|0.39056|.	.|1.1|.	5.22|5.22|5.22	3.44|3.44|3.44	0.39384|0.39384|0.39384	.|.|.	.|1.227830|.	.|0.06003|.	.|N|.	.|0.648074|.	T|T|.	0.32376|0.32376|.	0.0827|0.0827|.	.|.|.	.|.|.	.|.|.	0.09310|0.09310|0.09310	N|N|N	1|1|1	B|B|.	0.14438|0.13145|.	0.01|0.007|.	B|B|.	0.13407|0.16289|.	0.009|0.015|.	T|T|.	0.20140|0.20140|.	-1.0284|-1.0284|.	6|8|.	.|.|.	.|.|.	.|.|.	.|.|.	5.866|5.866|5.866	0.18775|0.18775|0.18775	0.1727:0.2015:0.6258:0.0|0.1727:0.2015:0.6258:0.0|0.1727:0.2015:0.6258:0.0	.|.|.	103|241|.	Q2PYN5|Q6PIS1-2|.	.|.|.	L|E|X	132|241|251;259;251	.|ENSP00000295738:Q241E|.	.|.|.	F|Q|S	-|-|-	3|1|2	2|0|0	SLC23A3|SLC23A3|SLC23A3	219741207|219741207|219741207	0.731000|0.731000|0.731000	0.28111|0.28111|0.28111	0.011000|0.011000|0.011000	0.14972|0.14972|0.14972	0.008000|0.008000|0.008000	0.06430|0.06430|0.06430	2.277000|2.277000|2.277000	0.43417|0.43417|0.43417	0.790000|0.790000|0.790000	0.33803|0.33803|0.33803	-0.140000|-0.140000|-0.140000	0.14226|0.14226|0.14226	TTC|CAA|TCA		0.577	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2		NM_144712		11	32	0	0	0	1	0	11	32		
FAM134A	79137	broad.mit.edu	37	2	220046485	220046485	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:220046485G>A	ENST00000430297.2	+	8	1139	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	335						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGCTGACTGATGTCTCCGA	0.577																																						uc002vjw.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1003-1005)GAT>AAT		hypothetical protein LOC79137							102.0	96.0	98.0					2																	220046485		2203	4300	6503	SO:0001583	missense	79137					endoplasmic reticulum|integral to membrane		g.chr2:220046485G>A	AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 17"""	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.1003G>A	2.37:g.220046485G>A	ENSP00000395249:p.Asp335Asn					FAM134A_uc010fwc.2_Missense_Mutation_p.D128N|FAM134A_uc002vjx.2_Missense_Mutation_p.D128N	p.D335N	NM_024293	NP_077269	Q8NC44	F134A_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1139	+		Renal(207;0.0915)	335					Q6P1P5|Q9H0K7	Missense_Mutation	SNP	ENST00000430297.2	37	c.1003G>A	CCDS2434.1	.	.	.	.	.	.	.	.	.	.	G	33	5.212896	0.95069	.	.	ENSG00000144567	ENST00000458520;ENST00000430297;ENST00000443518	T;T	0.54071	0.59;0.83	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.72510	0.3469	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.973	T	0.77213	-0.2670	10	0.87932	D	0	-11.8047	17.5687	0.87928	0.0:0.0:1.0:0.0	.	128;335	E7EUL4;Q8NC44	.;F134A_HUMAN	N	128;335;128	ENSP00000403898:D128N;ENSP00000395249:D335N	ENSP00000395249:D335N	D	+	1	0	FAM134A	219754729	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.189000	0.94928	2.364000	0.80123	0.655000	0.94253	GAT		0.577	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2		NM_024293		21	88	0	0	0	1	0	21	88		
ATG9A	79065	broad.mit.edu	37	2	220085587	220085587	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:220085587G>C	ENST00000409618.1	-	15	2835	c.2396C>G	c.(2395-2397)tCt>tGt	p.S799C	ATG9A_ENST00000409422.1_Missense_Mutation_p.S738C|ATG9A_ENST00000396761.2_Missense_Mutation_p.S799C|ABCB6_ENST00000265316.3_5'Flank|ABCB6_ENST00000439002.2_5'Flank|ATG9A_ENST00000361242.4_Missense_Mutation_p.S799C			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	799					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGAAATGAGAGGGAACCCT	0.577																																						uc002vke.1		NaN																	0				skin(1)	1						c.(2395-2397)TCT>TGT		APG9 autophagy 9-like 1							38.0	40.0	39.0					2																	220085587		1934	4119	6053	SO:0001583	missense	79065				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane		g.chr2:220085587G>C	AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.2396C>G	2.37:g.220085587G>C	ENSP00000386710:p.Ser799Cys					ABCB6_uc002vkc.1_5'Flank|ABCB6_uc010fwe.1_5'Flank|ABCB6_uc010zku.1_5'Flank|ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Missense_Mutation_p.S799C	p.S799C	NM_001077198	NP_001070666	Q7Z3C6	ATG9A_HUMAN		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	15	2582	-		Renal(207;0.0474)	799			Cytoplasmic (By similarity).		Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	ENST00000409618.1	37	c.2396C>G	CCDS42820.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821148	0.50633	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	5.06	5.06	0.68205	.	0.503812	0.22001	N	0.066006	T	0.62792	0.2457	N	0.19112	0.55	0.37236	D	0.905893	P	0.46277	0.875	B	0.43783	0.431	T	0.71527	-0.4566	10	0.56958	D	0.05	-10.1742	18.6114	0.91286	0.0:0.0:1.0:0.0	.	799	Q7Z3C6	ATG9A_HUMAN	C	799;799;799;738	ENSP00000379983:S799C;ENSP00000386710:S799C;ENSP00000355173:S799C;ENSP00000386535:S738C	ENSP00000355173:S799C	S	-	2	0	ATG9A	219793831	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.389000	0.59639	2.627000	0.88993	0.655000	0.94253	TCT		0.577	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1		NM_024085		19	64	0	0	0	1	0	19	64		
STK11IP	114790	broad.mit.edu	37	2	220474164	220474164	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:220474164G>A	ENST00000456909.1	+	17	2096	c.2006G>A	c.(2005-2007)aGa>aAa	p.R669K	STK11IP_ENST00000295641.10_Missense_Mutation_p.R680K			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	680					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			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)		CTGCTGGGTAGATTCCAGTGT	0.582																																						uc002vml.2		NaN																	0				ovary(1)	1						c.(2038-2040)AGA>AAA		LKB1 interacting protein							35.0	41.0	39.0					2																	220474164		2023	4198	6221	SO:0001583	missense	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220474164G>A	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.2006G>A	2.37:g.220474164G>A	ENSP00000389383:p.Arg669Lys					STK11IP_uc010zll.1_3'UTR|STK11IP_uc002vmm.1_Missense_Mutation_p.R669K	p.R680K	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)	17	2082	+		Renal(207;0.0183)	680					Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37	c.2039G>A		.	.	.	.	.	.	.	.	.	.	G	13.18	2.159144	0.38119	.	.	ENSG00000144589	ENST00000456909;ENST00000295641	T;T	0.05580	3.42;3.42	5.1	4.2	0.49525	.	0.200002	0.40818	N	0.001012	T	0.09423	0.0232	M	0.69823	2.125	0.34208	D	0.674002	B;B	0.32101	0.356;0.356	B;B	0.33454	0.164;0.164	T	0.03453	-1.1035	10	0.44086	T	0.13	-2.418	9.7443	0.40437	0.0952:0.0:0.9048:0.0	.	680;680	Q8N1F8-2;Q8N1F8	.;S11IP_HUMAN	K	669;680	ENSP00000389383:R669K;ENSP00000295641:R680K	ENSP00000295641:R680K	R	+	2	0	STK11IP	220182408	0.038000	0.19896	0.983000	0.44433	0.440000	0.31957	1.915000	0.39976	2.652000	0.90054	0.655000	0.94253	AGA		0.582	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1		NM_052902		5	20	0	0	0	1	0	5	20		
SLC4A3	6508	broad.mit.edu	37	2	220502408	220502408	+	Missense_Mutation	SNP	G	G	A	rs140581019		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:220502408G>A	ENST00000358055.3	+	17	3153	c.2641G>A	c.(2641-2643)Gag>Aag	p.E881K	SLC4A3_ENST00000273063.6_Missense_Mutation_p.E908K|SLC4A3_ENST00000373760.2_Missense_Mutation_p.E881K|SLC4A3_ENST00000317151.3_Missense_Mutation_p.E881K|SLC4A3_ENST00000373762.3_Missense_Mutation_p.E908K			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	881	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCCCCACCGAGGGCCCCCC	0.647													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17383	0.0		0.0	False		,,,				2504	0.0					uc002vmp.3		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5						c.(2641-2643)GAG>AAG		solute carrier family 4, anion exchanger, member		G	LYS/GLU,LYS/GLU	3,4403	4.2+/-10.8	0,3,2200	51.0	43.0	46.0		2641,2722	3.7	1.0	2	dbSNP_134	46	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	SLC4A3	NM_005070.3,NM_201574.2	56,56	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	benign,benign	881/1233,908/1260	220502408	4,13002	2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220502408G>A		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2641G>A	2.37:g.220502408G>A	ENSP00000350756:p.Glu881Lys					SLC4A3_uc002vmo.3_Missense_Mutation_p.E908K|SLC4A3_uc010fwm.2_Missense_Mutation_p.E431K|SLC4A3_uc010fwn.1_Missense_Mutation_p.E390K	p.E881K	NM_005070	NP_005061	P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	17	2910	+		Renal(207;0.0183)	881			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.2641G>A	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	5.772	0.326892	0.10900	6.81E-4	1.16E-4	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	4.54	3.66	0.41972	Bicarbonate transporter, C-terminal (1);	0.211480	0.23724	N	0.045192	T	0.60287	0.2257	N	0.26130	0.795	0.09310	N	1	B;B;B	0.17038	0.02;0.008;0.019	B;B;B	0.17722	0.013;0.019;0.011	T	0.39881	-0.9592	10	0.12766	T	0.61	.	7.4383	0.27169	0.0856:0.0:0.7499:0.1645	.	585;881;908	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	K	881;881;908;908;141;881	ENSP00000350756:E881K;ENSP00000362865:E881K;ENSP00000273063:E908K;ENSP00000362867:E908K;ENSP00000314006:E881K	ENSP00000273063:E908K	E	+	1	0	SLC4A3	220210652	0.996000	0.38824	0.981000	0.43875	0.295000	0.27426	2.442000	0.44873	1.286000	0.44565	0.551000	0.68910	GAG		0.647	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1		NM_005070		23	77	0	0	0	1	0	23	77		
CCDC140	151278	broad.mit.edu	37	2	223169063	223169063	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:223169063G>A	ENST00000295226.1	+	2	826	c.442G>A	c.(442-444)Gag>Aag	p.E148K		NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	148										endometrium(4)|large_intestine(1)|prostate(1)	6		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		aaagaagaaagagagaaagag	0.478																																						uc002vnb.1		NaN																	0					0						c.(442-444)GAG>AAG		coiled-coil domain containing 140							12.0	14.0	13.0					2																	223169063		2161	4263	6424	SO:0001583	missense	151278							g.chr2:223169063G>A	AK057009	CCDS2452.1	2q36.1	2008-02-05			ENSG00000163081	ENSG00000163081			26514	protein-coding gene	gene with protein product							Standard	NM_153038		Approved	FLJ32447	uc002vnb.1	Q96MF4	OTTHUMG00000133154	ENST00000295226.1:c.442G>A	2.37:g.223169063G>A	ENSP00000295226:p.Glu148Lys						p.E148K	NM_153038	NP_694583	Q96MF4	CC140_HUMAN		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	826	+		Renal(207;0.0376)	148			Potential.			Missense_Mutation	SNP	ENST00000295226.1	37	c.442G>A	CCDS2452.1	.	.	.	.	.	.	.	.	.	.	G	5.695	0.312701	0.10789	.	.	ENSG00000163081	ENST00000295226	.	.	.	2.58	-0.299	0.12808	.	.	.	.	.	T	0.16981	0.0408	N	0.08118	0	0.09310	N	1	B	0.19817	0.039	B	0.11329	0.006	T	0.20505	-1.0273	8	0.87932	D	0	.	5.187	0.15189	0.4445:0.0:0.5555:0.0	.	148	Q96MF4	CC140_HUMAN	K	148	.	ENSP00000295226:E148K	E	+	1	0	CCDC140	222877307	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.672000	0.25187	-0.087000	0.12528	-0.291000	0.09656	GAG		0.478	CCDC140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256854.1		NM_153038		5	26	0	0	0	1	0	5	26		
DOCK10	55619	broad.mit.edu	37	2	225666692	225666692	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:225666692C>T	ENST00000258390.7	-	40	4401	c.4334G>A	c.(4333-4335)cGa>cAa	p.R1445Q	DOCK10_ENST00000409592.3_Missense_Mutation_p.R1439Q	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1445					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ATTTTTGCCTCGAATTATAGG	0.368																																						uc010fwz.1		NaN																	0				ovary(2)	2						c.(4333-4335)CGA>CAA		dedicator of cytokinesis 10							237.0	223.0	227.0					2																	225666692		1903	4127	6030	SO:0001583	missense	55619						GTP binding	g.chr2:225666692C>T	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4334G>A	2.37:g.225666692C>T	ENSP00000258390:p.Arg1445Gln					DOCK10_uc002vob.2_Missense_Mutation_p.R1439Q|DOCK10_uc002voa.2_Missense_Mutation_p.R101Q|DOCK10_uc002voc.2_Missense_Mutation_p.R299Q	p.R1445Q	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	40	4573	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1445					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.4334G>A	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.685033|5.685033	0.96784|0.96784	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000422684|ENST00000409592;ENST00000258390	.|T;T	.|0.01572	.|4.76;4.76	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.165039	.|0.52532	.|N	.|0.000076	T|T	0.10637|0.10637	0.0260|0.0260	M|M	0.77820|0.77820	2.39|2.39	0.45330|0.45330	D|D	0.998325|0.998325	.|D;P;D;P	.|0.89917	.|1.0;0.913;0.998;0.926	.|P;B;P;P	.|0.61477	.|0.889;0.223;0.791;0.552	T|T	0.00170|0.00170	-1.1961|-1.1961	5|10	.|0.52906	.|T	.|0.07	.|.	20.3465|20.3465	0.98790|0.98790	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1445;299;1439;107	.|Q96BY6;B4DF07;B3FL70;B4DEY4	.|DOC10_HUMAN;.;.;.	K|Q	327|1439;1445	.|ENSP00000386694:R1439Q;ENSP00000258390:R1445Q	.|ENSP00000258390:R1445Q	E|R	-|-	1|2	0|0	DOCK10|DOCK10	225374936|225374936	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.805000|6.805000	0.75191|0.75191	2.798000|2.798000	0.96311|0.96311	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.368	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1				17	62	0	0	0	1	0	17	62		
COL4A4	1286	broad.mit.edu	37	2	227898175	227898175	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:227898175C>G	ENST00000396625.3	-	38	3735	c.3528G>C	c.(3526-3528)ctG>ctC	p.L1176L	COL4A4_ENST00000329662.7_Silent_p.L1176L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1176	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCAAGCCGTTCAGGCCAGGTG	0.522											OREG0015250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010zlt.1		NaN																	0				ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(3526-3528)CTG>CTC		alpha 4 type IV collagen precursor							55.0	56.0	56.0					2																	227898175		1941	4156	6097	SO:0001819	synonymous_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227898175C>G		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.3528G>C	2.37:g.227898175C>G			OREG0015250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2323		p.L1176L	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	38	4182	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1176			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	c.3528G>C	CCDS42828.1																																																																																				0.522	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1		NM_000092		15	48	0	0	0	1	0	15	48		
TRIP12	9320	broad.mit.edu	37	2	230723619	230723619	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:230723619G>A	ENST00000283943.5	-	3	948	c.770C>T	c.(769-771)tCt>tTt	p.S257F	TRIP12_ENST00000389044.4_Missense_Mutation_p.S299F|TRIP12_ENST00000543084.1_Missense_Mutation_p.S299F|TRIP12_ENST00000409677.1_Missense_Mutation_p.S299F|TRIP12_ENST00000389045.3_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	257					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AAATTTTGAAGAGCCACCAGT	0.473																																						uc002vpw.1		NaN																	0				ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(769-771)TCT>TTT		thyroid hormone receptor interactor 12							108.0	111.0	110.0					2																	230723619		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230723619G>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.770C>T	2.37:g.230723619G>A	ENSP00000283943:p.Ser257Phe					TRIP12_uc002vpx.1_Missense_Mutation_p.S299F|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_RNA|TRIP12_uc010fxh.1_Missense_Mutation_p.S257F	p.S257F	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	3	879	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	257					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.770C>T	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576527	0.65878	.	.	ENSG00000153827	ENST00000283943;ENST00000389044;ENST00000543084;ENST00000409677	T;T	0.49432	0.78;0.78	5.78	4.91	0.64330	.	0.053044	0.85682	N	0.000000	T	0.54806	0.1881	L	0.27053	0.805	0.80722	D	1	D;B;B	0.61080	0.989;0.006;0.006	D;B;B	0.69654	0.965;0.005;0.005	T	0.56607	-0.7951	10	0.46703	T	0.11	.	14.8733	0.70474	0.0689:0.0:0.9311:0.0	.	257;299;257	D4HL82;Q14CA3;Q14669	.;.;TRIPC_HUMAN	F	257;299;299;299	ENSP00000283943:S257F;ENSP00000373696:S299F	ENSP00000283943:S257F	S	-	2	0	TRIP12	230431863	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.434000	0.97515	1.457000	0.47850	-0.140000	0.14226	TCT		0.473	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3		NM_004238		21	67	0	0	0	1	0	21	67		
SP100	6672	broad.mit.edu	37	2	231379918	231379918	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:231379918G>A	ENST00000264052.5	+	25	2558	c.2203G>A	c.(2203-2205)Gaa>Aaa	p.E735K	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	735					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGAAAATTTGAAGATATGGC	0.388																																						uc002vqt.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(2203-2205)GAA>AAA		nuclear antigen Sp100 isoform 2							46.0	50.0	49.0					2																	231379918		2201	4297	6498	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231379918G>A	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.2203G>A	2.37:g.231379918G>A	ENSP00000264052:p.Glu735Lys					SP100_uc002vqu.1_Intron|SP100_uc010fxp.1_Intron	p.E735K	NM_003113	NP_003104	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	25	2344	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	735			HMG box 1.		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	c.2203G>A	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284483	0.40394	.	.	ENSG00000067066	ENST00000264052	T	0.14893	2.47	0.158	0.158	0.14942	High mobility group, HMG1/HMG2, subgroup (1);High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.31420	0.0796	M	0.91972	3.26	0.80722	D	1	P	0.45474	0.859	P	0.48425	0.577	T	0.17501	-1.0367	9	0.56958	D	0.05	.	6.0348	0.19702	5.0E-4:0.0:0.9995:0.0	.	735	P23497	SP100_HUMAN	K	735	ENSP00000264052:E735K	ENSP00000264052:E735K	E	+	1	0	SP100	231088162	1.000000	0.71417	0.057000	0.19452	0.057000	0.15508	4.710000	0.61873	0.202000	0.20498	0.205000	0.17691	GAA		0.388	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2		NM_003113		23	73	0	0	0	1	0	23	73		
ARMC9	80210	broad.mit.edu	37	2	232100023	232100023	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:232100023G>A	ENST00000349938.4	+	8	903	c.709G>A	c.(709-711)Gac>Aac	p.D237N	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	237						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GATCCAGGCCGACTACCACAA	0.488																																						uc002vrq.3		NaN																	0				ovary(1)	1						c.(709-711)GAC>AAC		armadillo repeat containing 9							96.0	90.0	92.0					2																	232100023		2203	4300	6503	SO:0001583	missense	80210						binding	g.chr2:232100023G>A	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.709G>A	2.37:g.232100023G>A	ENSP00000258417:p.Asp237Asn					ARMC9_uc002vrp.3_Missense_Mutation_p.D237N	p.D237N	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	8	821	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	237					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	c.709G>A	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	G	36	5.684321	0.96774	.	.	ENSG00000135931	ENST00000349938;ENST00000359743	T	0.54279	0.58	5.61	5.61	0.85477	.	0.047832	0.85682	D	0.000000	T	0.73393	0.3581	M	0.70275	2.135	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.73541	-0.3950	10	0.52906	T	0.07	-33.6269	19.6248	0.95674	0.0:0.0:1.0:0.0	.	237	Q7Z3E5	ARMC9_HUMAN	N	237	ENSP00000258417:D237N	ENSP00000258417:D237N	D	+	1	0	ARMC9	231808267	1.000000	0.71417	0.984000	0.44739	0.982000	0.71751	7.530000	0.81962	2.631000	0.89168	0.655000	0.94253	GAC		0.488	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3		NM_025139		11	40	0	0	0	1	0	11	40		
ARMC9	80210	broad.mit.edu	37	2	232143143	232143143	+	Nonsense_Mutation	SNP	C	C	A	rs537669037		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:232143143C>A	ENST00000349938.4	+	16	1717	c.1523C>A	c.(1522-1524)tCg>tAg	p.S508*	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	508						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		AAAGTCCTTTCGGATCTTCTT	0.527																																						uc002vrq.3		NaN																	0				ovary(1)	1						c.(1522-1524)TCG>TAG		armadillo repeat containing 9							172.0	155.0	161.0					2																	232143143		2203	4300	6503	SO:0001587	stop_gained	80210						binding	g.chr2:232143143C>A	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.1523C>A	2.37:g.232143143C>A	ENSP00000258417:p.Ser508*					ARMC9_uc002vrp.3_Nonsense_Mutation_p.S508*|ARMC9_uc002vrr.1_RNA	p.S508*	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	16	1635	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	508					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Nonsense_Mutation	SNP	ENST00000349938.4	37	c.1523C>A	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353962	0.82243	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000446447	.	.	.	5.13	5.13	0.70059	.	0.125415	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0304	17.3783	0.87398	0.0:1.0:0.0:0.0	.	.	.	.	X	508;508;150	.	ENSP00000258417:S508X	S	+	2	0	ARMC9	231851387	0.995000	0.38212	0.495000	0.27527	0.982000	0.71751	6.534000	0.73833	2.391000	0.81399	0.467000	0.42956	TCG		0.527	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3		NM_025139		40	106	1	0	2.95478e-19	1	3.13632e-19	40	106		
DGKD	8527	broad.mit.edu	37	2	234343511	234343511	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:234343511C>G	ENST00000264057.2	+	5	562	c.550C>G	c.(550-552)Ctg>Gtg	p.L184V	DGKD_ENST00000409813.3_Missense_Mutation_p.L140V	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	184					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CCGTGAGGCTCTGTCTGGGGT	0.567																																						uc002vui.1		NaN																	0				central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5						c.(550-552)CTG>GTG		diacylglycerol kinase, delta 130kDa isoform 2	Phosphatidylserine(DB00144)						194.0	167.0	176.0					2																	234343511		2203	4300	6503	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234343511C>G	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.550C>G	2.37:g.234343511C>G	ENSP00000264057:p.Leu184Val					DGKD_uc002vuj.1_Missense_Mutation_p.L140V|DGKD_uc010fyh.1_Missense_Mutation_p.L51V|DGKD_uc002vuk.1_Missense_Mutation_p.L51V	p.L184V	NM_152879	NP_690618	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	5	562	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	184			Phorbol-ester/DAG-type 1.		Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.550C>G	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037872	0.54896	.	.	ENSG00000077044	ENST00000264057;ENST00000427930;ENST00000447484;ENST00000409813	D;D;D	0.93859	-3.3;-3.3;-3.3	4.92	3.1	0.35709	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.64402	D	0.000018	D	0.95818	0.8639	M	0.84156	2.68	0.48135	D	0.99959	D;D;D;P	0.71674	0.96;0.988;0.998;0.544	P;D;D;B	0.77557	0.764;0.951;0.99;0.329	D	0.94575	0.7774	10	0.66056	D	0.02	.	7.4338	0.27143	0.0:0.6638:0.0:0.3362	.	68;120;140;184	Q53SE4;C9JY42;Q16760-2;Q16760	.;.;.;DGKD_HUMAN	V	184;120;154;140	ENSP00000264057:L184V;ENSP00000407938:L120V;ENSP00000386455:L140V	ENSP00000264057:L184V	L	+	1	2	DGKD	234008250	0.176000	0.23096	0.541000	0.28102	0.942000	0.58702	0.690000	0.25451	0.770000	0.33336	0.563000	0.77884	CTG		0.567	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2		NM_003648		48	163	0	0	0	1	0	48	163		
UGT1A5	54579	broad.mit.edu	37	2	234621763	234621763	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:234621763C>G	ENST00000373414.3	+	1	126	c.126C>G	c.(124-126)ctC>ctG	p.L42L	UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000608381.1_Silent_p.L42L			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	42						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		GCCACTGGCTCAGCATGCGGG	0.602																																						uc002vuw.2		NaN																	0				skin(1)	1						c.(124-126)CTC>CTG		UDP glycosyltransferase 1 family, polypeptide A5							50.0	45.0	47.0					2																	234621763		2203	4300	6503	SO:0001819	synonymous_variant	54579				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr2:234621763C>G	M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"""UDP glucuronosyltransferases"""	12537	other	complex locus constituent		606430	"""UDP glycosyltransferase 1 family, polypeptide A5"""			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.126C>G	2.37:g.234621763C>G						UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Silent_p.L42L	p.L42L	NM_019078	NP_061951	P35504	UD15_HUMAN		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	1	126	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	42					B8K294	Silent	SNP	ENST00000373414.3	37	c.126C>G	CCDS33404.1																																																																																				0.602	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1		NM_019078		17	72	0	0	0	1	0	17	72		
ARL4C	10123	broad.mit.edu	37	2	235404739	235404739	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:235404739G>A	ENST00000390645.2	-	1	958	c.492C>T	c.(490-492)atC>atT	p.I164I	ARL4C_ENST00000339728.3_Silent_p.I164I	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	164					endocytic recycling (GO:0032456)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		GGCCCTCGCCGATGATGGCGC	0.617																																					Esophageal Squamous(157;1837 2534 13028 22831)	uc002vvn.2		NaN																	0				skin(1)	1						c.(490-492)ATC>ATT		ADP-ribosylation factor-like 4C							45.0	50.0	48.0					2																	235404739		2008	4178	6186	SO:0001819	synonymous_variant	10123				endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity	g.chr2:235404739G>A	AB016811	CCDS2512.1, CCDS63169.1	2q37.2	2014-05-09	2005-11-03	2005-11-03	ENSG00000188042	ENSG00000188042		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	698	protein-coding gene	gene with protein product		604787	"""ADP-ribosylation factor-like 7"""	ARL7			Standard	NM_005737		Approved	LAK	uc002vvn.3	P56559	OTTHUMG00000133291	ENST00000390645.2:c.492C>T	2.37:g.235404739G>A						ARL4C_uc002vvm.3_Silent_p.I164I	p.I164I	NM_005737	NP_005728	P56559	ARL4C_HUMAN		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)	1	955	-		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)	164					Q4A519|Q53R10|Q9BVN1|Q9UQ34	Silent	SNP	ENST00000390645.2	37	c.492C>T	CCDS2512.1																																																																																				0.617	ARL4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257073.1				18	57	0	0	0	1	0	18	57		
SH3BP4	23677	broad.mit.edu	37	2	235962340	235962340	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:235962340G>A	ENST00000409212.1	+	6	3279	c.2772G>A	c.(2770-2772)atG>atA	p.M924I	SH3BP4_ENST00000344528.4_Missense_Mutation_p.M924I|SH3BP4_ENST00000392011.2_Missense_Mutation_p.M924I			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	924					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TGGACAAGATGAAAAACCCCA	0.582																																						uc002vvp.2		NaN																	0				skin(3)|ovary(1)	4						c.(2770-2772)ATG>ATA		SH3-domain binding protein 4							162.0	153.0	156.0					2																	235962340		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235962340G>A	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.2772G>A	2.37:g.235962340G>A	ENSP00000386862:p.Met924Ile					SH3BP4_uc010fym.2_Missense_Mutation_p.M906I|SH3BP4_uc002vvq.2_Missense_Mutation_p.M924I	p.M924I	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	6	3165	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	924					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.2772G>A	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	G	32	5.177438	0.94846	.	.	ENSG00000130147	ENST00000392011;ENST00000409212;ENST00000344528;ENST00000538289	T;T;T	0.44083	0.93;0.93;0.93	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.65428	0.2690	M	0.79475	2.455	0.80722	D	1	D;D	0.54964	0.969;0.969	D;D	0.63381	0.914;0.914	T	0.68360	-0.5429	10	0.72032	D	0.01	-52.3219	18.1745	0.89757	0.0:0.0:1.0:0.0	.	924;924	A8K594;Q9P0V3	.;SH3B4_HUMAN	I	924;924;924;162	ENSP00000375867:M924I;ENSP00000386862:M924I;ENSP00000340237:M924I	ENSP00000340237:M924I	M	+	3	0	SH3BP4	235627079	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.474000	0.97718	2.648000	0.89879	0.655000	0.94253	ATG		0.582	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1				49	153	0	0	0	1	0	49	153		
OR6B3	150681	broad.mit.edu	37	2	240984886	240984886	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:240984886G>C	ENST00000319423.4	-	1	603	c.604C>G	c.(604-606)Ctg>Gtg	p.L202V	PRR21_ENST00000408934.1_5'Flank	NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		ATGAAGGCCAGAATGAAATCC	0.577																																						uc010zoe.1		NaN																	0					0						c.(604-606)CTG>GTG		olfactory receptor, family 6, subfamily B,							67.0	73.0	71.0					2																	240984886		2128	4236	6364	SO:0001583	missense	150681				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240984886G>C		CCDS42837.1	2q37.3	2013-09-23	2002-11-13	2002-11-15	ENSG00000178586	ENSG00000178586		"""GPCR / Class A : Olfactory receptors"""	15042	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 3 pseudogene"""	OR6B3P			Standard	NM_173351		Approved	OR6B3Q	uc010zoe.2	Q8NGW1	OTTHUMG00000152399	ENST00000319423.4:c.604C>G	2.37:g.240984886G>C	ENSP00000322435:p.Leu202Val					PRR21_uc010zod.1_5'Flank	p.L202V	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)	1	604	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	202			Helical; Name=5; (Potential).		Q6IFH3	Missense_Mutation	SNP	ENST00000319423.4	37	c.604C>G	CCDS42837.1	.	.	.	.	.	.	.	.	.	.	g	11.95	1.792396	0.31685	.	.	ENSG00000178586	ENST00000319423	T	0.00054	8.8	4.09	1.3	0.21679	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36303	N	0.002667	T	0.00144	0.0004	N	0.17082	0.46	0.09310	N	1	D	0.61697	0.99	P	0.62491	0.903	T	0.50474	-0.8824	10	0.16420	T	0.52	.	3.6267	0.08116	0.3087:0.1902:0.5011:0.0	.	202	Q8NGW1	OR6B3_HUMAN	V	202	ENSP00000322435:L202V	ENSP00000322435:L202V	L	-	1	2	OR6B3	240633559	0.000000	0.05858	0.045000	0.18777	0.952000	0.60782	-1.116000	0.03286	0.267000	0.21916	0.603000	0.83216	CTG		0.577	OR6B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326078.1				15	71	0	0	0	1	0	15	71		
ATG4B	23192	broad.mit.edu	37	2	242594013	242594013	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:242594013C>G	ENST00000404914.3	+	5	439	c.336C>G	c.(334-336)ctC>ctG	p.L112L	ATG4B_ENST00000405546.3_Silent_p.L112L|ATG4B_ENST00000402096.1_Silent_p.L38L|ATG4B_ENST00000474739.2_Silent_p.L98L|ATG4B_ENST00000396411.3_Silent_p.L38L	NM_013325.4|NM_178326.2	NP_037457.3|NP_847896.1	Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	112					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|positive regulation of autophagy (GO:0010508)|positive regulation of protein catabolic process (GO:0045732)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		TCAGCGTCCTCAACGCATTCA	0.502																																					Melanoma(78;458 1323 6342 12171 39523)	uc002wbv.2		NaN																	0					0						c.(334-336)CTC>CTG		APG4 autophagy 4 homolog B isoform a							59.0	59.0	59.0					2																	242594013		2015	4171	6186	SO:0001819	synonymous_variant	23192				autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding	g.chr2:242594013C>G	AB023160	CCDS46564.1, CCDS46565.1	2q37.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000168397	ENSG00000168397			20790	protein-coding gene	gene with protein product		611338	"""APG4 autophagy 4 homolog B (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog B (S. cerevisiae)"""	APG4B		12446702	Standard	NM_013325		Approved	Apg4B, KIAA0943, DKFZp586D1822, AUTL1	uc002wbv.3	Q9Y4P1	OTTHUMG00000151514	ENST00000404914.3:c.336C>G	2.37:g.242594013C>G						ATG4B_uc002wbu.2_Silent_p.L38L|ATG4B_uc002wbw.2_Silent_p.L112L|ATG4B_uc010zox.1_Silent_p.L98L|ATG4B_uc010zoy.1_Silent_p.L38L|ATG4B_uc010fzp.2_Silent_p.L112L|ATG4B_uc010zoz.1_Silent_p.L38L	p.L112L	NM_013325	NP_037457	Q9Y4P1	ATG4B_HUMAN		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)	5	439	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	112					B7WNK2|Q53NU4|Q6ZUV8|Q8WYM9|Q96K07|Q96K96|Q96SZ1|Q9Y2F2	Silent	SNP	ENST00000404914.3	37	c.336C>G	CCDS46564.1																																																																																				0.502	ATG4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322967.3		NM_013325		5	10	0	0	0	1	0	5	10		
UBOX5	22888	broad.mit.edu	37	20	3102035	3102035	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:3102035G>A	ENST00000217173.2	-	3	1721	c.1250C>T	c.(1249-1251)tCg>tTg	p.S417L	UBOX5_ENST00000348031.2_Missense_Mutation_p.S417L|UBOX5-AS1_ENST00000446537.1_RNA	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5											endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						ATTACCTGTCGAGCAGTCCAT	0.527																																						uc002whw.2		NaN																	0				ovary(1)|skin(1)	2						c.(1249-1251)TCG>TTG		U-box domain containing 5 isoform a							108.0	93.0	98.0					20																	3102035		2203	4300	6503	SO:0001583	missense	22888					nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr20:3102035G>A	AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"""RING-type (C3HC4) zinc fingers"", ""U-box domain containing"""	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.1250C>T	20.37:g.3102035G>A	ENSP00000217173:p.Ser417Leu					uc002whv.1_Intron|UBOX5_uc002whx.2_Missense_Mutation_p.S417L|UBOX5_uc002why.1_Missense_Mutation_p.S417L	p.S417L	NM_014948	NP_055763	O94941	RNF37_HUMAN			3	1420	-			417						Missense_Mutation	SNP	ENST00000217173.2	37	c.1250C>T	CCDS13046.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226153	0.58668	.	.	ENSG00000185019	ENST00000217173;ENST00000348031	T;T	0.34472	1.37;1.36	5.29	5.29	0.74685	.	0.614861	0.16011	U	0.233798	T	0.52980	0.1768	L	0.34521	1.04	0.45762	D	0.99865	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.946;0.996	T	0.55431	-0.8142	10	0.87932	D	0	-7.4386	18.9468	0.92625	0.0:0.0:1.0:0.0	.	417;417;417	Q53GQ5;Q86X87;O94941	.;.;RNF37_HUMAN	L	417	ENSP00000217173:S417L;ENSP00000311726:S417L	ENSP00000217173:S417L	S	-	2	0	UBOX5	3050035	1.000000	0.71417	0.996000	0.52242	0.309000	0.27889	6.509000	0.73725	2.455000	0.83008	0.655000	0.94253	TCG		0.527	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077706.2		NM_014948		12	55	0	0	0	1	0	12	55		
CENPB	1059	broad.mit.edu	37	20	3765738	3765738	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:3765738C>T	ENST00000379751.4	-	1	1599	c.1393G>A	c.(1393-1395)Gag>Aag	p.E465K	CDC25B_ENST00000379598.5_5'Flank|CDC25B_ENST00000344256.6_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	465	Glu-rich (acidic).				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						GAGGAGCTCTCCTCATCTTCC	0.617																																						uc002wjk.2		NaN																	0					0						c.(1393-1395)GAG>AAG		centromere protein B							256.0	210.0	226.0					20																	3765738		2203	4300	6503	SO:0001583	missense	1059				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding	g.chr20:3765738C>T	X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"""centromere protein B (80kD)"""			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.1393G>A	20.37:g.3765738C>T	ENSP00000369075:p.Glu465Lys					CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	p.E465K	NM_001810	NP_001801	P07199	CENPB_HUMAN			1	1600	-			465			Glu-rich (acidic).		Q96EI4	Missense_Mutation	SNP	ENST00000379751.4	37	c.1393G>A	CCDS13064.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280596	0.40294	.	.	ENSG00000125817	ENST00000379751;ENST00000536335	T	0.05649	3.41	4.58	4.58	0.56647	.	.	.	.	.	T	0.04227	0.0117	N	0.24115	0.695	0.28499	N	0.91411	P	0.38767	0.646	B	0.29176	0.099	T	0.31779	-0.9931	9	0.18710	T	0.47	-7.7946	12.8677	0.57948	0.0:1.0:0.0:0.0	.	465	P07199	CENPB_HUMAN	K	465;4	ENSP00000369075:E465K	ENSP00000369075:E465K	E	-	1	0	CENPB	3713738	0.893000	0.30496	1.000000	0.80357	0.765000	0.43378	2.541000	0.45735	2.075000	0.62263	0.555000	0.69702	GAG		0.617	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2		NM_001810		17	59	0	0	0	1	0	17	59		
TMX4	56255	broad.mit.edu	37	20	7964486	7964486	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:7964486C>G	ENST00000246024.2	-	7	849	c.634G>C	c.(634-636)Gaa>Caa	p.E212Q		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	212					cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						TAGAAACATTCTGATATTACC	0.388																																						uc002wmx.1		NaN																	0					0						c.(634-636)GAA>CAA		thioredoxin-related transmembrane protein 4							124.0	115.0	118.0					20																	7964486		2203	4300	6503	SO:0001583	missense	56255				cell redox homeostasis|electron transport chain|transport	integral to membrane		g.chr20:7964486C>G		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"""Protein disulfide isomerases"""	25237	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 14"""		"""thioredoxin domain containing 13"""	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.634G>C	20.37:g.7964486C>G	ENSP00000246024:p.Glu212Gln						p.E212Q	NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN			7	767	-			212					Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	ENST00000246024.2	37	c.634G>C	CCDS13101.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670336	0.67814	.	.	ENSG00000125827	ENST00000246024;ENST00000527925	T;T	0.42900	0.96;0.96	4.69	4.69	0.59074	.	0.054655	0.64402	D	0.000002	T	0.55577	0.1929	M	0.70595	2.14	0.39530	D	0.968652	D	0.61697	0.99	P	0.55615	0.78	T	0.59118	-0.7514	10	0.54805	T	0.06	-21.7709	13.4214	0.61001	0.0:1.0:0.0:0.0	.	212	Q9H1E5	TMX4_HUMAN	Q	212;184	ENSP00000246024:E212Q;ENSP00000435735:E184Q	ENSP00000246024:E212Q	E	-	1	0	TMX4	7912486	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.527000	0.53517	2.890000	0.99128	0.585000	0.79938	GAA		0.388	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2		NM_021156		12	43	0	0	0	1	0	12	43		
NKX2-2	4821	broad.mit.edu	37	20	21492922	21492922	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:21492922G>T	ENST00000377142.4	-	2	817	c.461C>A	c.(460-462)tCg>tAg	p.S154*	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	154					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CTCGGGCGCCGACAGGTACCG	0.672																																						uc002wsi.2		NaN																	0				pancreas(1)|skin(1)	2						c.(460-462)TCG>TAG		NK2 transcription factor related, locus 2							26.0	29.0	28.0					20																	21492922		2202	4299	6501	SO:0001587	stop_gained	4821				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	g.chr20:21492922G>T	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.461C>A	20.37:g.21492922G>T	ENSP00000366347:p.Ser154*						p.S154*	NM_002509	NP_002500	O95096	NKX22_HUMAN			2	818	-			154			Homeobox.			Nonsense_Mutation	SNP	ENST00000377142.4	37	c.461C>A	CCDS13145.1	.	.	.	.	.	.	.	.	.	.	G	38	7.173187	0.98114	.	.	ENSG00000125820	ENST00000377142	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.8583	0.88773	0.0:0.0:1.0:0.0	.	.	.	.	X	154	.	ENSP00000366347:S154X	S	-	2	0	NKX2-2	21440922	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.792000	0.99085	2.291000	0.77112	0.462000	0.41574	TCG		0.672	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9				9	33	1	0	1.12685e-05	1	1.14925e-05	9	33		
FOXA2	3170	broad.mit.edu	37	20	22562719	22562719	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:22562719G>A	ENST00000377115.4	-	3	1324	c.1143C>T	c.(1141-1143)ctC>ctT	p.L381L	FOXA2_ENST00000419308.2_Silent_p.L387L	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	381	Transactivation domain 2. {ECO:0000250}.				adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.L381L(1)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CCGAGGACATGAGGTTGTTGA	0.637																																						uc002wsn.2		NaN																	1	Substitution - coding silent(1)		central_nervous_system(1)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(1141-1143)CTC>CTT		forkhead box A2 isoform 2							143.0	123.0	130.0					20																	22562719		2203	4300	6503	SO:0001819	synonymous_variant	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:22562719G>A	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"""Forkhead boxes"""	5022	protein-coding gene	gene with protein product		600288	"""hepatocyte nuclear factor 3, beta"""	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.1143C>T	20.37:g.22562719G>A						FOXA2_uc002wsm.2_Silent_p.L387L	p.L381L	NM_153675	NP_710141	Q9Y261	FOXA2_HUMAN			3	1333	-	Lung NSC(19;0.188)		381			Transactivation domain 2 (By similarity).		Q8WUW4|Q96DF7	Silent	SNP	ENST00000377115.4	37	c.1143C>T	CCDS13147.1																																																																																				0.637	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1				13	33	0	0	0	1	0	13	33		
ASXL1	171023	broad.mit.edu	37	20	31022245	31022245	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:31022245C>G	ENST00000375687.4	+	13	2154	c.1730C>G	c.(1729-1731)tCa>tGa	p.S577*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.S572*	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	577	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S577*(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						ATTCAACTTTCACGTATCAAA	0.473			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2		NaN		Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		1	Substitution - Nonsense(1)		upper_aerodigestive_tract(1)	haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(1729-1731)TCA>TGA		additional sex combs like 1 isoform 1							51.0	55.0	54.0					20																	31022245		2203	4300	6503	SO:0001587	stop_gained	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31022245C>G	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1730C>G	20.37:g.31022245C>G	ENSP00000364839:p.Ser577*					ASXL1_uc010geb.2_Nonsense_Mutation_p.S468*	p.S577*	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			12	2156	+			577					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Nonsense_Mutation	SNP	ENST00000375687.4	37	c.1730C>G	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	C	41	8.815268	0.98964	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.2035	19.0626	0.93099	0.0:1.0:0.0:0.0	.	.	.	.	X	577;577;577;516;572	.	ENSP00000305119:S572X	S	+	2	0	ASXL1	30485906	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.289000	0.78701	2.826000	0.97356	0.561000	0.74099	TCA		0.473	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2		NM_015338		18	103	0	0	0	1	0	18	103		
GGT7	2686	broad.mit.edu	37	20	33439105	33439105	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:33439105C>T	ENST00000336431.5	-	13	1698	c.1654G>A	c.(1654-1656)Gag>Aag	p.E552K	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	552					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						CAGAGCCCCTCCGCGGGTCGG	0.622																																						uc002xay.2		NaN																	0				ovary(1)	1						c.(1654-1656)GAG>AAG		gamma-glutamyltransferase 7							45.0	48.0	47.0					20																	33439105		2203	4300	6503	SO:0001583	missense	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33439105C>T	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1654G>A	20.37:g.33439105C>T	ENSP00000338964:p.Glu552Lys					GGT7_uc010gex.2_RNA|GGT7_uc002xaz.1_Missense_Mutation_p.E569K	p.E552K	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN			13	1697	-			552			Extracellular (Potential).		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	c.1654G>A	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735162	0.30774	.	.	ENSG00000131067	ENST00000336431	T	0.04917	3.53	5.91	4.96	0.65561	.	0.389273	0.28772	N	0.014184	T	0.04907	0.0132	L	0.29908	0.895	0.32528	N	0.535288	B;B	0.14438	0.0;0.01	B;B	0.16722	0.003;0.016	T	0.18304	-1.0341	10	0.08599	T	0.76	-11.8227	10.2546	0.43390	0.0:0.7928:0.1357:0.0716	.	552;552	A4FU32;Q9UJ14	.;GGT7_HUMAN	K	552	ENSP00000338964:E552K	ENSP00000338964:E552K	E	-	1	0	GGT7	32902766	0.767000	0.28508	0.997000	0.53966	0.977000	0.68977	1.306000	0.33505	1.498000	0.48600	0.655000	0.94253	GAG		0.622	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2		NM_178026		28	67	0	0	0	1	0	28	67		
GGT7	2686	broad.mit.edu	37	20	33440073	33440073	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:33440073G>A	ENST00000336431.5	-	12	1516	c.1472C>T	c.(1471-1473)tCc>tTc	p.S491F	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	491					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						CTGGTTCAGGGAGCTGGGGGC	0.637																																						uc002xay.2		NaN																	0				ovary(1)	1						c.(1471-1473)TCC>TTC		gamma-glutamyltransferase 7							41.0	46.0	44.0					20																	33440073		2203	4300	6503	SO:0001583	missense	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33440073G>A	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1472C>T	20.37:g.33440073G>A	ENSP00000338964:p.Ser491Phe					GGT7_uc010gex.2_5'Flank|GGT7_uc002xaz.1_Missense_Mutation_p.S508F	p.S491F	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN			12	1515	-			491			Extracellular (Potential).		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	c.1472C>T	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945370	0.92593	.	.	ENSG00000131067	ENST00000336431	T	0.36878	1.23	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.69396	0.3106	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.73180	-0.4064	10	0.87932	D	0	-14.8927	20.6593	0.99626	0.0:0.0:1.0:0.0	.	491;491	A4FU32;Q9UJ14	.;GGT7_HUMAN	F	491	ENSP00000338964:S491F	ENSP00000338964:S491F	S	-	2	0	GGT7	32903734	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.076000	0.94009	2.885000	0.99019	0.655000	0.94253	TCC		0.637	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2		NM_178026		18	46	0	0	0	1	0	18	46		
FAM83C	128876	broad.mit.edu	37	20	33874440	33874440	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:33874440G>C	ENST00000374408.3	-	4	2238	c.2142C>G	c.(2140-2142)gtC>gtG	p.V714V	EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000374436.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	714										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TCTCATCCCTGACCAGGTCAC	0.552																																						uc010zux.1		NaN																	0				ovary(2)	2						c.(2140-2142)GTC>GTG		hypothetical protein LOC128876							109.0	102.0	105.0					20																	33874440		2203	4300	6503	SO:0001819	synonymous_variant	128876							g.chr20:33874440G>C	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.2142C>G	20.37:g.33874440G>C						EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Silent_p.V369V	p.V714V	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	2260	-			714					Q14D67|Q5JWN6|Q8N276	Silent	SNP	ENST00000374408.3	37	c.2142C>G	CCDS13251.1																																																																																				0.552	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3				39	102	0	0	0	1	0	39	102		
CEP250	11190	broad.mit.edu	37	20	34065849	34065849	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:34065849G>T	ENST00000397527.1	+	17	2737	c.2017G>T	c.(2017-2019)Gag>Tag	p.E673*	RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA|CEP250_ENST00000342580.4_Nonsense_Mutation_p.E673*	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	673	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAAAGCTGAGGAGGCTGGGGC	0.527																																						uc002xcm.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(2017-2019)GAG>TAG		centrosomal protein 2							56.0	58.0	57.0					20																	34065849		2203	4300	6503	SO:0001587	stop_gained	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34065849G>T	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.2017G>T	20.37:g.34065849G>T	ENSP00000380661:p.Glu673*					CEP250_uc010zve.1_Nonsense_Mutation_p.E41*|CEP250_uc010zvd.1_RNA	p.E673*	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		18	2688	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		673			Gln/Glu-rich.|Potential.		E1P5Q3|O14812|O60588|Q9H450	Nonsense_Mutation	SNP	ENST00000397527.1	37	c.2017G>T	CCDS13255.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.602018|5.602018	0.96614|0.96614	.|.	.|.	ENSG00000126001|ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000425934|ENST00000425096	.|.	.|.	.|.	5.47|5.47	4.5|4.5	0.54988|0.54988	.|.	0.236935|.	0.29451|.	N|.	0.012102|.	.|T	.|0.64472	.|0.2601	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70586	.|-0.4831	.|3	0.26408|.	T|.	0.33|.	.|.	14.0782|14.0782	0.64903|0.64903	0.0:0.1508:0.8492:0.0|0.0:0.1508:0.8492:0.0	.|.	.|.	.|.	.|.	X|V	673;673;672|186	.|.	ENSP00000341541:E673X|.	E|G	+|+	1|2	0|0	CEP250|CEP250	33529263|33529263	1.000000|1.000000	0.71417|0.71417	0.741000|0.741000	0.31004|0.31004	0.874000|0.874000	0.50279|0.50279	3.234000|3.234000	0.51320|0.51320	1.266000|1.266000	0.44231|0.44231	0.557000|0.557000	0.71058|0.71058	GAG|GGA		0.527	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7		NM_007186		5	33	1	0	0.000602214	1	0.000609414	5	33		
CEP250	11190	broad.mit.edu	37	20	34065861	34065861	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:34065861G>C	ENST00000397527.1	+	17	2749	c.2029G>C	c.(2029-2031)Gag>Cag	p.E677Q	RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA|CEP250_ENST00000342580.4_Missense_Mutation_p.E677Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	677	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGCTGGGGCTGAGCTGCAGGC	0.532																																						uc002xcm.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(2029-2031)GAG>CAG		centrosomal protein 2							54.0	56.0	55.0					20																	34065861		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34065861G>C	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.2029G>C	20.37:g.34065861G>C	ENSP00000380661:p.Glu677Gln					CEP250_uc010zve.1_Missense_Mutation_p.E45Q|CEP250_uc010zvd.1_RNA	p.E677Q	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		18	2700	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		677			Gln/Glu-rich.|Potential.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.2029G>C	CCDS13255.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.26|13.26	2.185478|2.185478	0.38609|0.38609	.|.	.|.	ENSG00000126001|ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000425934|ENST00000425096	T;T;T|.	0.23950|.	2.95;2.97;1.88|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.231168|.	0.30126|.	N|.	0.010349|.	T|.	0.64649|.	0.2617|.	M|M	0.63843|0.63843	1.955|1.955	0.32600|0.32600	N|N	0.525978|0.525978	B|.	0.19583|.	0.037|.	B|.	0.21917|.	0.037|.	T|.	0.70396|.	-0.4883|.	10|.	0.32370|.	T|.	0.25|.	.|.	17.1083|17.1083	0.86669|0.86669	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	677|.	Q9BV73|.	CP250_HUMAN|.	Q|S	677;677;676|190	ENSP00000380661:E677Q;ENSP00000341541:E677Q;ENSP00000413827:E676Q|.	ENSP00000341541:E677Q|.	E|X	+|+	1|2	0|2	CEP250|CEP250	33529275|33529275	0.944000|0.944000	0.32072|0.32072	0.994000|0.994000	0.49952|0.49952	0.946000|0.946000	0.59487|0.59487	1.924000|1.924000	0.40065|0.40065	2.564000|2.564000	0.86499|0.86499	0.557000|0.557000	0.71058|0.71058	GAG|TGA		0.532	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7		NM_007186		5	40	0	0	0	1	0	5	40		
NFS1	9054	broad.mit.edu	37	20	34261595	34261595	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:34261595G>C	ENST00000374092.4	-	11	1218	c.1148C>G	c.(1147-1149)tCt>tGt	p.S383C	NFS1_ENST00000541387.1_Missense_Mutation_p.S332C|NFS1_ENST00000540053.1_Missense_Mutation_p.S181C|NFS1_ENST00000374085.1_Missense_Mutation_p.S323C|NFS1_ENST00000397425.1_Missense_Mutation_p.S323C|NFS1_ENST00000498084.1_5'UTR|RP1-309K20.6_ENST00000541176.2_Missense_Mutation_p.L43V	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	383					cysteine metabolic process (GO:0006534)|iron incorporation into metallo-sulfur cluster (GO:0018283)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|protein complex assembly (GO:0006461)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine desulfurase activity (GO:0031071)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)	CAGGGATGCAGAGGTGCAGGC	0.493																																						uc002xdw.1		NaN																	0				ovary(1)|skin(1)	2						c.(1147-1149)TCT>TGT		NFS1 nitrogen fixation 1 precursor	L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						112.0	97.0	102.0					20																	34261595		2203	4300	6503	SO:0001583	missense	9054				cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr20:34261595G>C	AF097025	CCDS13262.1, CCDS56185.1	20q11.22	2013-08-06	2013-08-06		ENSG00000244005	ENSG00000244005	2.8.1.7		15910	protein-coding gene	gene with protein product		603485	"""nitrogen fixation 1 (S. cerevisiae, homolog)"", ""NFS1 nitrogen fixation 1 homolog (S. cerevisiae)"""			9885568, 16847322	Standard	NM_021100		Approved	NifS, IscS	uc002xdw.2	Q9Y697	OTTHUMG00000032361	ENST00000374092.4:c.1148C>G	20.37:g.34261595G>C	ENSP00000363205:p.Ser383Cys					CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_RNA|CPNE1_uc002xdp.1_RNA|NFS1_uc002xdt.1_Missense_Mutation_p.S323C|NFS1_uc002xdu.1_Missense_Mutation_p.S323C|NFS1_uc002xdv.1_RNA|NFS1_uc010zvk.1_Missense_Mutation_p.S181C|NFS1_uc010zvl.1_Missense_Mutation_p.S332C	p.S383C	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0886)		11	1212	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		383					B3KMA5|B4DXK9|E1P5R8|F5GYK5|Q6P0L8|Q9NTZ5|Q9Y481	Missense_Mutation	SNP	ENST00000374092.4	37	c.1148C>G	CCDS13262.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035307	0.93630	.	.	ENSG00000244005	ENST00000374092;ENST00000374085;ENST00000397425;ENST00000540053;ENST00000541387	T;T;T;T;T	0.54675	1.51;2.56;2.56;0.56;1.5	5.56	5.56	0.83823	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	D	0.86661	0.5986	H	0.99777	4.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92886	0.6327	9	.	.	.	-10.3433	19.5275	0.95212	0.0:0.0:1.0:0.0	.	332;383	F5GYK5;Q9Y697	.;NFS1_HUMAN	C	383;323;323;181;332	ENSP00000363205:S383C;ENSP00000363198:S323C;ENSP00000380570:S323C;ENSP00000438594:S181C;ENSP00000440897:S332C	.	S	-	2	0	NFS1	33725009	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.511000	0.98006	2.616000	0.88540	0.563000	0.77884	TCT		0.493	NFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078936.4		NM_021100		17	57	0	0	0	1	0	17	57		
NFS1	9054	broad.mit.edu	37	20	34262520	34262520	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:34262520G>C	ENST00000374092.4	-	9	1038	c.968C>G	c.(967-969)tCa>tGa	p.S323*	NFS1_ENST00000541387.1_Nonsense_Mutation_p.S272*|NFS1_ENST00000540053.1_Nonsense_Mutation_p.S121*|NFS1_ENST00000374085.1_Nonsense_Mutation_p.S263*|NFS1_ENST00000397425.1_Nonsense_Mutation_p.S263*|NFS1_ENST00000498084.1_5'Flank|RP1-309K20.6_ENST00000541176.2_5'Flank	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	323					cysteine metabolic process (GO:0006534)|iron incorporation into metallo-sulfur cluster (GO:0018283)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|protein complex assembly (GO:0006461)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine desulfurase activity (GO:0031071)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)	TGACAACTTTGAGATTCGCTT	0.463																																						uc002xdw.1		NaN																	0				ovary(1)|skin(1)	2						c.(967-969)TCA>TGA		NFS1 nitrogen fixation 1 precursor	L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						86.0	86.0	86.0					20																	34262520		2203	4300	6503	SO:0001587	stop_gained	9054				cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr20:34262520G>C	AF097025	CCDS13262.1, CCDS56185.1	20q11.22	2013-08-06	2013-08-06		ENSG00000244005	ENSG00000244005	2.8.1.7		15910	protein-coding gene	gene with protein product		603485	"""nitrogen fixation 1 (S. cerevisiae, homolog)"", ""NFS1 nitrogen fixation 1 homolog (S. cerevisiae)"""			9885568, 16847322	Standard	NM_021100		Approved	NifS, IscS	uc002xdw.2	Q9Y697	OTTHUMG00000032361	ENST00000374092.4:c.968C>G	20.37:g.34262520G>C	ENSP00000363205:p.Ser323*					CPNE1_uc002xdn.1_5'Flank|CPNE1_uc002xdo.1_5'Flank|CPNE1_uc002xdp.1_RNA|NFS1_uc002xdt.1_Nonsense_Mutation_p.S263*|NFS1_uc002xdu.1_Nonsense_Mutation_p.S263*|NFS1_uc002xdv.1_RNA|NFS1_uc010zvk.1_Nonsense_Mutation_p.S121*|NFS1_uc010zvl.1_Nonsense_Mutation_p.S272*	p.S323*	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0886)		9	1032	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		323					B3KMA5|B4DXK9|E1P5R8|F5GYK5|Q6P0L8|Q9NTZ5|Q9Y481	Nonsense_Mutation	SNP	ENST00000374092.4	37	c.968C>G	CCDS13262.1	.	.	.	.	.	.	.	.	.	.	G	36	5.729931	0.96856	.	.	ENSG00000244005	ENST00000374092;ENST00000374085;ENST00000397425;ENST00000540053;ENST00000541387	.	.	.	6.04	5.1	0.69264	.	0.171334	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-0.5739	10.1456	0.42762	0.0682:0.2479:0.6839:0.0	.	.	.	.	X	323;263;263;121;272	.	ENSP00000363198:S263X	S	-	2	0	NFS1	33725934	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.666000	0.61554	1.578000	0.49821	-0.253000	0.11424	TCA		0.463	NFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078936.4		NM_021100		13	60	0	0	0	1	0	13	60		
MANBAL	63905	broad.mit.edu	37	20	35929739	35929739	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:35929739G>A	ENST00000373605.3	+	3	885	c.73G>A	c.(73-75)Gga>Aga	p.G25R	MANBAL_ENST00000397150.1_Missense_Mutation_p.G25R|MANBAL_ENST00000397151.1_Missense_Mutation_p.G25R|MANBAL_ENST00000397152.3_Missense_Mutation_p.G25R|MANBAL_ENST00000373606.3_Missense_Mutation_p.G25R|MANBAL_ENST00000397156.3_Missense_Mutation_p.G25R			Q9NQG1	MANBL_HUMAN	mannosidase, beta A, lysosomal-like	25						integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(115;0.00878)				GCTACGGTACGGACTCTTCCT	0.597																																						uc002xgu.2		NaN																	0					0						c.(73-75)GGA>AGA		mannosidase, beta A, lysosomal-like							100.0	86.0	91.0					20																	35929739		2203	4300	6503	SO:0001583	missense	63905					integral to membrane		g.chr20:35929739G>A		CCDS13293.1	20q11.23	2013-09-20			ENSG00000101363	ENSG00000101363			15799	protein-coding gene	gene with protein product							Standard	NM_022077		Approved	dJ1141E15.2	uc002xgv.3	Q9NQG1	OTTHUMG00000032414	ENST00000373605.3:c.73G>A	20.37:g.35929739G>A	ENSP00000362707:p.Gly25Arg					MANBAL_uc002xgv.2_Missense_Mutation_p.G25R|MANBAL_uc002xgw.2_RNA|MANBAL_uc010gfx.2_RNA|MANBAL_uc010gfy.2_RNA	p.G25R	NM_022077	NP_071360	Q9NQG1	MANBL_HUMAN			3	285	+		Myeloproliferative disorder(115;0.00878)	25			Helical; (Potential).		A8KAA6|E1P5V3	Missense_Mutation	SNP	ENST00000373605.3	37	c.73G>A	CCDS13293.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.995990	0.93167	.	.	ENSG00000101363	ENST00000373606;ENST00000397156;ENST00000397150;ENST00000397152;ENST00000373605;ENST00000397151	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.79511	0.4458	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81549	-0.0882	8	0.87932	D	0	-12.5473	15.2803	0.73778	0.0:0.0:1.0:0.0	.	25	Q9NQG1	MANBL_HUMAN	R	25	.	ENSP00000362707:G25R	G	+	1	0	MANBAL	35363153	1.000000	0.71417	0.987000	0.45799	0.949000	0.60115	8.833000	0.92089	2.669000	0.90835	0.561000	0.74099	GGA		0.597	MANBAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079096.2		NM_022077		24	90	0	0	0	1	0	24	90		
SLC32A1	140679	broad.mit.edu	37	20	37357157	37357157	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:37357157C>G	ENST00000217420.1	+	2	1716	c.1453C>G	c.(1453-1455)Ctg>Gtg	p.L485V		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	485					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTGGCGCAAGCTGCTGTGGCA	0.652																																						uc002xjc.2		NaN																	0					0						c.(1453-1455)CTG>GTG		solute carrier family 32, member 1	Glycine(DB00145)						27.0	28.0	28.0					20																	37357157		2203	4300	6503	SO:0001583	missense	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37357157C>G	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1453C>G	20.37:g.37357157C>G	ENSP00000217420:p.Leu485Val						p.L485V	NM_080552	NP_542119	Q9H598	VIAAT_HUMAN			2	1716	+		Myeloproliferative disorder(115;0.00878)	485			Lumenal, vesicle (Potential).		Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	c.1453C>G	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.563249	0.65538	.	.	ENSG00000101438	ENST00000217420	T	0.02446	4.29	4.95	3.98	0.46160	.	0.000000	0.64402	D	0.000001	T	0.10508	0.0257	L	0.61036	1.89	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.07829	-1.0752	10	0.30078	T	0.28	-10.0178	11.8508	0.52410	0.0:0.9077:0.0:0.0923	.	485	Q9H598	VIAAT_HUMAN	V	485	ENSP00000217420:L485V	ENSP00000217420:L485V	L	+	1	2	SLC32A1	36790571	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.961000	0.70356	2.455000	0.83008	0.655000	0.94253	CTG		0.652	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1		NM_080552		16	42	0	0	0	1	0	16	42		
SRSF6	6431	broad.mit.edu	37	20	42088739	42088739	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:42088739G>T	ENST00000244020.3	+	4	554	c.448G>T	c.(448-450)Gta>Tta	p.V150L		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	150	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						AAATGAGGGTGTAATTGAGTT	0.428																																						uc010zwg.1		NaN																	0					0						c.(448-450)GTA>TTA		arginine/serine-rich splicing factor 6							139.0	136.0	137.0					20																	42088739		2203	4300	6503	SO:0001583	missense	6431				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr20:42088739G>T	U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.448G>T	20.37:g.42088739G>T	ENSP00000244020:p.Val150Leu					SFRS6_uc002xki.2_Missense_Mutation_p.V21L|SFRS6_uc002xkk.2_Missense_Mutation_p.V150L	p.V150L	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		4	618	+		Myeloproliferative disorder(115;0.00452)	150			RRM 2.		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	37	c.448G>T	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636706	0.47049	.	.	ENSG00000124193	ENST00000244020	T	0.15487	2.42	6.08	6.08	0.98989	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.104372	0.64402	D	0.000004	T	0.38480	0.1042	L	0.61387	1.9	0.80722	D	1	P;D	0.54397	0.926;0.966	P;P	0.58391	0.759;0.838	T	0.01998	-1.1232	10	0.87932	D	0	.	19.4436	0.94836	0.0:0.0:1.0:0.0	.	150;150	Q13247;A8K588	SRSF6_HUMAN;.	L	150	ENSP00000244020:V150L	ENSP00000244020:V150L	V	+	1	0	SRSF6	41522153	1.000000	0.71417	0.446000	0.26920	0.020000	0.10135	7.754000	0.85163	2.894000	0.99253	0.591000	0.81541	GTA		0.428	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1		NM_006275		13	61	1	0	2.27111e-07	1	2.34737e-07	13	61		
SRSF6	6431	broad.mit.edu	37	20	42088812	42088812	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:42088812G>C	ENST00000244020.3	+	4	627	c.521G>C	c.(520-522)aGa>aCa	p.R174T		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	174	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						ATAAATGGCAGAAATATTAGG	0.453																																						uc010zwg.1		NaN																	0					0						c.(520-522)AGA>ACA		arginine/serine-rich splicing factor 6							88.0	86.0	87.0					20																	42088812		2202	4293	6495	SO:0001583	missense	6431				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr20:42088812G>C	U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.521G>C	20.37:g.42088812G>C	ENSP00000244020:p.Arg174Thr					SFRS6_uc002xki.2_Missense_Mutation_p.R45T|SFRS6_uc002xkk.2_Missense_Mutation_p.R174T	p.R174T	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		4	691	+		Myeloproliferative disorder(115;0.00452)	174			RRM 2.		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	37	c.521G>C	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015384	0.75161	.	.	ENSG00000124193	ENST00000244020	T	0.19938	2.11	6.08	6.08	0.98989	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.67154	0.2863	H	0.98721	4.31	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.72625	0.978;0.97	T	0.80538	-0.1338	10	0.87932	D	0	.	19.4436	0.94836	0.0:0.0:1.0:0.0	.	174;174	Q13247;A8K588	SRSF6_HUMAN;.	T	174	ENSP00000244020:R174T	ENSP00000244020:R174T	R	+	2	0	SRSF6	41522226	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	9.756000	0.98918	2.894000	0.99253	0.591000	0.81541	AGA		0.453	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1		NM_006275		13	44	0	0	0	1	0	13	44		
TP53TG5	27296	broad.mit.edu	37	20	44003758	44003758	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:44003758G>A	ENST00000372726.3	-	4	845	c.689C>T	c.(688-690)tCc>tTc	p.S230F	SYS1_ENST00000426004.1_3'UTR|TP53TG5_ENST00000537995.1_Missense_Mutation_p.S214F|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1-DBNDD2_ENST00000475242.1_Intron|TP53TG5_ENST00000494455.1_5'Flank	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	230					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						ACGCAGGGTGGAGGATCTGCA	0.597																																						uc002xny.2		NaN																	0				central_nervous_system(1)	1						c.(688-690)TCC>TTC		TP53-target gene 5 protein							68.0	65.0	66.0					20																	44003758		2203	4300	6503	SO:0001583	missense	27296				intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus		g.chr20:44003758G>A	AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 10"""	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.689C>T	20.37:g.44003758G>A	ENSP00000361811:p.Ser230Phe					SYS1_uc002xnw.1_3'UTR|SYS1-DBNDD2_uc002xnx.2_Intron	p.S230F	NM_014477	NP_055292	Q9Y2B4	T53G5_HUMAN			4	770	-			230						Missense_Mutation	SNP	ENST00000372726.3	37	c.689C>T	CCDS13352.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654582	0.67472	.	.	ENSG00000124251	ENST00000372726;ENST00000537995	T;T	0.27402	1.67;1.67	5.99	5.99	0.97316	.	0.000000	0.64402	D	0.000001	T	0.51907	0.1702	L	0.52011	1.625	0.47441	D	0.999426	D	0.89917	1.0	D	0.91635	0.999	T	0.47837	-0.9086	10	0.87932	D	0	-19.3062	17.197	0.86895	0.0:0.0:1.0:0.0	.	230	Q9Y2B4	T53G5_HUMAN	F	230;214	ENSP00000361811:S230F;ENSP00000438374:S214F	ENSP00000361811:S230F	S	-	2	0	TP53TG5	43437172	0.981000	0.34729	0.168000	0.22838	0.486000	0.33341	5.145000	0.64839	2.840000	0.97914	0.655000	0.94253	TCC		0.597	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079460.1		NM_014477		28	79	0	0	0	1	0	28	79		
PCIF1	63935	broad.mit.edu	37	20	44573623	44573623	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:44573623G>C	ENST00000372409.3	+	11	1486	c.1122G>C	c.(1120-1122)cgG>cgC	p.R374R		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	374					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						ACGTCAAACGGATCCGAGAGA	0.572																																						uc002xqs.2		NaN																	0				skin(1)	1						c.(1120-1122)CGG>CGC		phosphorylated CTD interacting factor 1							99.0	80.0	87.0					20																	44573623		2202	4300	6502	SO:0001819	synonymous_variant	63935					nucleus		g.chr20:44573623G>C	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1122G>C	20.37:g.44573623G>C						PCIF1_uc002xqt.2_5'UTR|PCIF1_uc002xqu.2_5'Flank	p.R374R	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN			11	1436	+			374					E1P5P1|Q54AB9|Q9NT85	Silent	SNP	ENST00000372409.3	37	c.1122G>C	CCDS13388.1																																																																																				0.572	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1		NM_022104		7	36	0	0	0	1	0	7	36		
PCIF1	63935	broad.mit.edu	37	20	44574946	44574946	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:44574946C>T	ENST00000372409.3	+	14	1900	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	512					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						TCGAGTGCTTCGCCTCACCCC	0.642																																						uc002xqs.2		NaN																	0				skin(1)	1						c.(1534-1536)TTC>TTT		phosphorylated CTD interacting factor 1							127.0	117.0	120.0					20																	44574946		2203	4300	6503	SO:0001819	synonymous_variant	63935					nucleus		g.chr20:44574946C>T	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1536C>T	20.37:g.44574946C>T						PCIF1_uc002xqt.2_Silent_p.F92F|PCIF1_uc002xqu.2_5'Flank	p.F512F	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN			14	1850	+			512					E1P5P1|Q54AB9|Q9NT85	Silent	SNP	ENST00000372409.3	37	c.1536C>T	CCDS13388.1																																																																																				0.642	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1		NM_022104		55	163	0	0	0	1	0	55	163		
SLC12A5	57468	broad.mit.edu	37	20	44678355	44678355	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:44678355G>A	ENST00000454036.2	+	17	2225	c.2176G>A	c.(2176-2178)Ggc>Agc	p.G726S	SLC12A5_ENST00000243964.3_Missense_Mutation_p.G703S	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	726					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGCGGGGAAGGGCCTGACCAT	0.622																																						uc010zxl.1		NaN																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(2176-2178)GGC>AGC		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						56.0	40.0	45.0					20																	44678355		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44678355G>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2176G>A	20.37:g.44678355G>A	ENSP00000387694:p.Gly726Ser					SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.G703S	p.G726S	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			17	2252	+		Myeloproliferative disorder(115;0.0122)	726					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.2176G>A	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860502	0.91433	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.95918	-3.85;-3.85	4.43	3.47	0.39725	.	0.120279	0.56097	N	0.000030	D	0.97573	0.9205	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.989	D	0.97158	0.9836	10	0.49607	T	0.09	.	11.1034	0.48188	0.0919:0.0:0.9081:0.0	.	726;703	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	S	726;703	ENSP00000387694:G726S;ENSP00000243964:G703S	ENSP00000243964:G703S	G	+	1	0	SLC12A5	44111762	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.657000	0.98554	1.064000	0.40671	0.467000	0.42956	GGC		0.622	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1				3	8	0	0	0	1	0	3	8		
ZNF334	55713	broad.mit.edu	37	20	45130355	45130355	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:45130355C>T	ENST00000347606.4	-	5	1805	c.1623G>A	c.(1621-1623)gaG>gaA	p.E541E	ZNF334_ENST00000593880.1_Silent_p.E564E|ZNF334_ENST00000457685.2_Silent_p.E503E	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	541					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)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CATATGGTCTCTCCCATATAG	0.448																																						uc002xsc.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1621-1623)GAG>GAA		zinc finger protein 334 isoform a							187.0	177.0	180.0					20																	45130355		2203	4300	6503	SO:0001819	synonymous_variant	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45130355C>T	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1623G>A	20.37:g.45130355C>T						ZNF334_uc002xsa.2_Silent_p.E564E|ZNF334_uc002xsb.2_Silent_p.E503E|ZNF334_uc002xsd.2_Silent_p.E503E|ZNF334_uc010ghl.2_Silent_p.E540E	p.E541E	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN			5	1807	-		Myeloproliferative disorder(115;0.0122)	541					Q5T6U2|Q9NVW4	Silent	SNP	ENST00000347606.4	37	c.1623G>A	CCDS33480.1																																																																																				0.448	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1				40	149	0	0	0	1	0	40	149		
CSE1L	1434	broad.mit.edu	37	20	47706100	47706100	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:47706100G>A	ENST00000262982.2	+	19	2121	c.1998G>A	c.(1996-1998)gtG>gtA	p.V666V	CSE1L_ENST00000542325.1_Silent_p.V449V|CSE1L_ENST00000396192.3_Silent_p.V610V	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	666					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TCTTTCAAGTGATGTCTTTGC	0.413																																						uc002xty.2		NaN																	0				large_intestine(1)|skin(1)	2						c.(1996-1998)GTG>GTA		CSE1 chromosome segregation 1-like protein							114.0	109.0	111.0					20																	47706100		2203	4300	6503	SO:0001819	synonymous_variant	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47706100G>A	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.1998G>A	20.37:g.47706100G>A						CSE1L_uc010zyg.1_Silent_p.V449V|CSE1L_uc010ghx.2_Silent_p.V610V|CSE1L_uc010ghy.2_Silent_p.V287V|CSE1L_uc010zyh.1_Silent_p.V315V	p.V666V	NM_001316	NP_001307	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		19	2132	+			666					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Silent	SNP	ENST00000262982.2	37	c.1998G>A	CCDS13412.1																																																																																				0.413	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2		NM_001316		14	67	0	0	0	1	0	14	67		
SALL4	57167	broad.mit.edu	37	20	50418832	50418832	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:50418832G>A	ENST00000217086.4	-	1	227	c.116C>T	c.(115-117)gCg>gTg	p.A39V	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000395997.3_Missense_Mutation_p.A39V|SALL4_ENST00000371539.3_Missense_Mutation_p.A39V	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	39					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTcccccgccgcgggcgccgc	0.746																																						uc002xwh.3		NaN																	0				ovary(2)	2						c.(115-117)GCG>GTG		sal-like 4							7.0	10.0	9.0					20																	50418832		1970	3946	5916	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50418832G>A	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.116C>T	20.37:g.50418832G>A	ENSP00000217086:p.Ala39Val					SALL4_uc010gii.2_Missense_Mutation_p.A39V|SALL4_uc002xwi.3_Missense_Mutation_p.A39V	p.A39V	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			1	217	-			39					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.116C>T	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.832745	0.50845	.	.	ENSG00000101115	ENST00000217086;ENST00000395997;ENST00000371539	T;T;T	0.54866	0.55;0.55;3.22	4.69	4.69	0.59074	.	0.000000	0.35525	N	0.003144	T	0.39118	0.1066	L	0.43152	1.355	0.09310	N	1	P;P;P	0.49635	0.926;0.672;0.814	B;B;B	0.30943	0.122;0.091;0.122	T	0.46428	-0.9192	10	0.39692	T	0.17	-6.788	15.7321	0.77814	0.0:0.0:1.0:0.0	.	39;39;39	A2A2D8;Q6Y8G5;Q9UJQ4	.;.;SALL4_HUMAN	V	39	ENSP00000217086:A39V;ENSP00000379319:A39V;ENSP00000360594:A39V	ENSP00000217086:A39V	A	-	2	0	SALL4	49852239	0.988000	0.35896	1.000000	0.80357	0.922000	0.55478	1.896000	0.39789	2.307000	0.77673	0.591000	0.81541	GCG		0.746	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3				4	19	0	0	0	1	0	4	19		
STX16	8675	broad.mit.edu	37	20	57245657	57245657	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:57245657C>T	ENST00000371141.4	+	6	1370	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	STX16_ENST00000496003.1_3'UTR|STX16_ENST00000361830.3_Missense_Mutation_p.R216W|STX16_ENST00000371132.4_Missense_Mutation_p.R195W|STX16_ENST00000358029.4_Missense_Mutation_p.R212W|STX16_ENST00000361770.5_Missense_Mutation_p.R199W|STX16_ENST00000359617.4_Missense_Mutation_p.R163W|STX16_ENST00000355957.5_Missense_Mutation_p.R199W|STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.R216W	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	216					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			TCTTTACCATCGGGTACGTGA	0.473																																						uc002xzi.2		NaN																	0				ovary(1)	1						c.(646-648)CGG>TGG		syntaxin 16 isoform a							171.0	123.0	139.0					20																	57245657		2203	4300	6503	SO:0001583	missense	8675				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity	g.chr20:57245657C>T	AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.646C>T	20.37:g.57245657C>T	ENSP00000360183:p.Arg216Trp					STX16_uc010zzq.1_Missense_Mutation_p.R30W|STX16_uc002xzk.2_Missense_Mutation_p.R199W|STX16_uc002xzm.2_Missense_Mutation_p.R212W|STX16_uc002xzj.2_Missense_Mutation_p.R195W|STX16_uc002xzl.2_Missense_Mutation_p.R30W	p.R216W	NM_001001433	NP_001001433	O14662	STX16_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)		6	1381	+	all_lung(29;0.0175)		216			Cytoplasmic (Potential).		A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Missense_Mutation	SNP	ENST00000371141.4	37	c.646C>T	CCDS13468.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865835	0.51588	.	.	ENSG00000124222	ENST00000355957;ENST00000361770;ENST00000312283;ENST00000359617;ENST00000371141;ENST00000371138;ENST00000371132;ENST00000358029;ENST00000361830;ENST00000438253;ENST00000435446	T;T;T;T;T;T;T;T;T	0.44482	1.87;1.87;0.92;1.87;1.87;1.87;1.87;1.87;0.92	5.91	4.92	0.64577	t-SNARE (1);	0.122285	0.51477	U	0.000093	T	0.54951	0.1890	L	0.59436	1.845	0.39079	D	0.960869	D;B;D;D	0.56746	0.977;0.349;0.976;0.975	P;B;P;P	0.57776	0.462;0.052;0.827;0.556	T	0.58956	-0.7544	10	0.66056	D	0.02	-24.6396	13.9289	0.63981	0.2155:0.7845:0.0:0.0	.	212;199;195;216	Q6GMS8;O14662-4;O14662-2;O14662	.;.;.;STX16_HUMAN	W	199;199;163;163;216;163;195;212;216;158;30	ENSP00000348229:R199W;ENSP00000355408:R199W;ENSP00000312086:R163W;ENSP00000352634:R163W;ENSP00000360183:R216W;ENSP00000360173:R195W;ENSP00000350723:R212W;ENSP00000354445:R216W;ENSP00000401801:R158W	ENSP00000360180:R163W	R	+	1	2	STX16	56679063	0.976000	0.34144	0.973000	0.42090	0.028000	0.11728	2.447000	0.44917	2.808000	0.96608	0.655000	0.94253	CGG		0.473	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2		NM_001001433		20	63	0	0	0	1	0	20	63		
PHACTR3	116154	broad.mit.edu	37	20	58330240	58330240	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:58330240C>T	ENST00000371015.1	+	4	829	c.362C>T	c.(361-363)gCt>gTt	p.A121V	PHACTR3_ENST00000395639.4_Missense_Mutation_p.A80V|PHACTR3_ENST00000359926.3_Missense_Mutation_p.A118V|PHACTR3_ENST00000361300.4_Missense_Mutation_p.A80V|PHACTR3_ENST00000541461.1_Missense_Mutation_p.A80V|PHACTR3_ENST00000395636.2_Missense_Mutation_p.A80V|PHACTR3_ENST00000355648.4_Missense_Mutation_p.A80V	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	121						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CTTGTAGATGCTGAAAGCAAA	0.537																																						uc002yau.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(361-363)GCT>GTT		phosphatase and actin regulator 3 isoform 1							57.0	54.0	55.0					20																	58330240		2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58330240C>T	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.362C>T	20.37:g.58330240C>T	ENSP00000360054:p.Ala121Val					PHACTR3_uc002yat.2_Missense_Mutation_p.A118V|PHACTR3_uc010zzw.1_Missense_Mutation_p.A80V|PHACTR3_uc002yav.2_Missense_Mutation_p.A80V|PHACTR3_uc002yaw.2_Missense_Mutation_p.A80V|PHACTR3_uc002yax.2_Missense_Mutation_p.A80V	p.A121V	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		4	829	+	all_lung(29;0.00344)		121					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.362C>T	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485134	0.26598	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.31769	1.9;1.91;1.48;1.92;1.92;1.92;1.48	3.8	3.8	0.43715	.	0.603363	0.16898	N	0.195007	T	0.23649	0.0572	L	0.27053	0.805	0.32624	N	0.522944	B;B;B	0.28713	0.13;0.1;0.22	B;B;B	0.32583	0.148;0.036;0.058	T	0.28202	-1.0051	10	0.37606	T	0.19	-4.7617	11.8762	0.52548	0.0:1.0:0.0:0.0	.	80;121;118	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	V	118;121;80;80;80;80;80	ENSP00000353002:A118V;ENSP00000360054:A121V;ENSP00000379001:A80V;ENSP00000442483:A80V;ENSP00000347866:A80V;ENSP00000378998:A80V;ENSP00000354555:A80V	ENSP00000347866:A80V	A	+	2	0	PHACTR3	57763635	1.000000	0.71417	0.899000	0.35326	0.168000	0.22595	3.926000	0.56491	2.067000	0.61834	0.591000	0.81541	GCT		0.537	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3		NM_080672		13	43	0	0	0	1	0	13	43		
DIDO1	11083	broad.mit.edu	37	20	61524224	61524224	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:61524224C>G	ENST00000266070.4	-	13	3517	c.3192G>C	c.(3190-3192)caG>caC	p.Q1064H	DIDO1_ENST00000395335.2_Missense_Mutation_p.Q1064H|DIDO1_ENST00000395340.1_Missense_Mutation_p.Q1064H|DIDO1_ENST00000395343.1_Missense_Mutation_p.Q1064H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1064					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TTGCCACACTCTGCATGTTAA	0.448																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NaN																	0				ovary(3)|skin(3)	6						c.(3190-3192)CAG>CAC		death inducer-obliterator 1 isoform c							145.0	122.0	130.0					20																	61524224		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61524224C>G	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3192G>C	20.37:g.61524224C>G	ENSP00000266070:p.Gln1064His					DIDO1_uc002yds.1_Missense_Mutation_p.Q1064H|DIDO1_uc002ydt.1_Missense_Mutation_p.Q1064H|DIDO1_uc002ydu.1_Missense_Mutation_p.Q1064H	p.Q1064H	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			13	3456	-	Breast(26;5.68e-08)		1064					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.3192G>C	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.376468	0.61735	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.13307	2.94;2.94;2.6;2.6	5.88	-4.32	0.03688	Spen paralogue and orthologue SPOC, C-terminal (1);	0.000000	0.39687	U	0.001290	T	0.19446	0.0467	N	0.25647	0.755	0.58432	D	0.999999	P;D	0.69078	0.936;0.997	P;D	0.80764	0.512;0.994	T	0.00307	-1.1830	10	0.72032	D	0.01	-34.6689	13.8189	0.63309	0.0:0.4593:0.0:0.5407	.	1064;1064	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	H	1064	ENSP00000266070:Q1064H;ENSP00000378752:Q1064H;ENSP00000378749:Q1064H;ENSP00000378744:Q1064H	ENSP00000266070:Q1064H	Q	-	3	2	DIDO1	60994669	0.036000	0.19791	0.946000	0.38457	0.983000	0.72400	-0.896000	0.04114	-0.593000	0.05844	-0.229000	0.12294	CAG		0.448	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2		NM_080796		17	64	0	0	0	1	0	17	64		
EEF1A2	1917	broad.mit.edu	37	20	62127331	62127331	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:62127331C>G	ENST00000298049.7	-	2	272	c.202G>C	c.(202-204)Gag>Cag	p.E68Q	EEF1A2_ENST00000217182.3_Missense_Mutation_p.E68Q			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	68	tr-type G.				positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			ATGCCGCGCTCACGCTCCGCC	0.612											OREG0026129	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002yfd.1		NaN																	0					0						c.(202-204)GAG>CAG		eukaryotic translation elongation factor 1 alpha							231.0	181.0	198.0					20																	62127331		2203	4299	6502	SO:0001583	missense	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62127331C>G	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.202G>C	20.37:g.62127331C>G	ENSP00000298049:p.Glu68Gln		OREG0026129	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1058	EEF1A2_uc002yfe.1_Missense_Mutation_p.E68Q|EEF1A2_uc010gkg.1_Missense_Mutation_p.E68Q	p.E68Q	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		2	303	-	all_cancers(38;9.45e-12)		68					B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	37	c.202G>C	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980288	0.92982	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.54479	0.57;0.57	4.01	4.01	0.46588	Protein synthesis factor, GTP-binding (3);	0.000000	0.85682	D	0.000000	T	0.72622	0.3483	M	0.77712	2.385	0.80722	D	1	D;P	0.60160	0.987;0.911	D;P	0.74674	0.984;0.789	T	0.78558	-0.2158	10	0.87932	D	0	-7.1927	16.4593	0.84031	0.0:1.0:0.0:0.0	.	44;68	Q59GP5;Q05639	.;EF1A2_HUMAN	Q	68	ENSP00000298049:E68Q;ENSP00000217182:E68Q	ENSP00000217182:E68Q	E	-	1	0	EEF1A2	61597775	1.000000	0.71417	0.988000	0.46212	0.861000	0.49209	5.921000	0.70028	1.954000	0.56735	0.313000	0.20887	GAG		0.612	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1		NM_001958		36	118	0	0	0	1	0	36	118		
STMN3	50861	broad.mit.edu	37	20	62275251	62275251	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:62275251G>C	ENST00000370053.1	-	3	230	c.149C>G	c.(148-150)tCa>tGa	p.S50*	STMN3_ENST00000540534.1_Nonsense_Mutation_p.S39*	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	50	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cytoplasmic microtubule organization (GO:0031122)|negative regulation of Rac protein signal transduction (GO:0035021)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|regulation of cytoskeleton organization (GO:0051493)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of Rac GTPase activity (GO:0032314)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	protein domain specific binding (GO:0019904)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			GCTCTGGCCTGAGGCCCGCTT	0.627																																						uc002yfr.1		NaN																	0					0						c.(148-150)TCA>TGA		SCG10-like-protein							93.0	83.0	87.0					20																	62275251		2203	4300	6503	SO:0001587	stop_gained	50861				cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding	g.chr20:62275251G>C	AF069709	CCDS13529.1, CCDS63330.1	20q13.3	2007-01-22			ENSG00000197457	ENSG00000197457			15926	protein-coding gene	gene with protein product		608362				9603203, 10655513	Standard	NM_001276310		Approved	SCLIP	uc002yfr.2	Q9NZ72	OTTHUMG00000032985	ENST00000370053.1:c.149C>G	20.37:g.62275251G>C	ENSP00000359070:p.Ser50*					STMN3_uc011abb.1_Nonsense_Mutation_p.S50*	p.S50*	NM_015894	NP_056978	Q9NZ72	STMN3_HUMAN	Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)		3	231	-	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		50					B3KSQ5|B7WP52|B7Z5G4|O75527|Q969Y4	Nonsense_Mutation	SNP	ENST00000370053.1	37	c.149C>G	CCDS13529.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.423017	0.62733	.	.	ENSG00000197457	ENST00000370053;ENST00000540534	.	.	.	5.12	5.12	0.69794	.	0.000000	0.64402	U	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.2972	18.5421	0.91031	0.0:0.0:1.0:0.0	.	.	.	.	X	50;39	.	ENSP00000359070:S50X	S	-	2	0	STMN3	61745695	1.000000	0.71417	0.999000	0.59377	0.018000	0.09664	9.619000	0.98369	2.391000	0.81399	0.591000	0.81541	TCA		0.627	STMN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080163.1		NM_015894		31	110	0	0	0	1	0	31	110		
CLDN17	26285	broad.mit.edu	37	21	31538639	31538639	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:31538639G>C	ENST00000286808.3	-	1	332	c.297C>G	c.(295-297)atC>atG	p.I99M		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	99					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						TCATGCCACAGATGCCAATAA	0.567																																						uc011acv.1		NaN																	0				ovary(2)	2						c.(295-297)ATC>ATG		claudin 17							74.0	75.0	75.0					21																	31538639		2203	4300	6503	SO:0001583	missense	26285				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:31538639G>C	AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"""Claudins"""	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.297C>G	21.37:g.31538639G>C	ENSP00000286808:p.Ile99Met						p.I99M	NM_012131	NP_036263	P56750	CLD17_HUMAN			1	297	-			99			Helical; (Potential).		Q3MJB5|Q6UY37	Missense_Mutation	SNP	ENST00000286808.3	37	c.297C>G	CCDS13586.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571384	0.45798	.	.	ENSG00000156282	ENST00000286808	D	0.88741	-2.42	4.69	-0.352	0.12598	.	0.225081	0.45867	N	0.000334	D	0.90109	0.6910	M	0.62088	1.915	0.29142	N	0.87895	D	0.53619	0.961	P	0.62649	0.905	D	0.83620	0.0139	10	0.46703	T	0.11	.	6.7501	0.23482	0.3549:0.1164:0.5287:0.0	.	99	P56750	CLD17_HUMAN	M	99	ENSP00000286808:I99M	ENSP00000286808:I99M	I	-	3	3	CLDN17	30460510	0.024000	0.19004	0.994000	0.49952	0.993000	0.82548	0.120000	0.15647	-0.063000	0.13065	0.655000	0.94253	ATC		0.567	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182261.1		NM_012131		37	83	0	0	0	1	0	37	83		
MIS18A	54069	broad.mit.edu	37	21	33651219	33651219	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:33651219G>C	ENST00000290130.3	-	1	161	c.107C>G	c.(106-108)tCc>tGc	p.S36C	MIS18A-AS1_ENST00000453549.1_RNA	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	36					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						CGAGTCTTCGGAGAGTCTCTT	0.637																																						uc002ypi.2		NaN																	0					0						c.(106-108)TCC>TGC		chromosome 21 open reading frame 45							29.0	29.0	29.0					21																	33651219		2203	4300	6503	SO:0001583	missense	54069				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm		g.chr21:33651219G>C	AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 46"", ""chromosome 21 open reading frame 45"", ""MIS18 kinetochore protein homolog A (S. pombe)"""	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.107C>G	21.37:g.33651219G>C	ENSP00000290130:p.Ser36Cys					C21orf45_uc011adn.1_Missense_Mutation_p.S36C	p.S36C	NM_018944	NP_061817	Q9NYP9	MS18A_HUMAN			1	158	-			36					B2R562|Q542Z0	Missense_Mutation	SNP	ENST00000290130.3	37	c.107C>G	CCDS13611.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.209924	0.79240	.	.	ENSG00000159055	ENST00000290130	.	.	.	4.81	3.92	0.45320	.	0.867157	0.10124	N	0.713048	T	0.53916	0.1826	L	0.57536	1.79	0.22888	N	0.998609	D	0.65815	0.995	P	0.58873	0.847	T	0.39981	-0.9587	9	0.87932	D	0	-8.6135	7.3608	0.26745	0.1927:0.0:0.8073:0.0	.	36	Q9NYP9	MS18A_HUMAN	C	36	.	ENSP00000290130:S36C	S	-	2	0	MIS18A	32573090	0.760000	0.28428	0.955000	0.39395	0.910000	0.53928	0.974000	0.29436	1.386000	0.46466	0.650000	0.86243	TCC		0.637	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193090.1		NM_018944		16	57	0	0	0	1	0	16	57		
PAXBP1	94104	broad.mit.edu	37	21	34133456	34133456	+	Missense_Mutation	SNP	C	C	G	rs79555426		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:34133456C>G	ENST00000331923.4	-	5	1078	c.889G>C	c.(889-891)Gat>Cat	p.D297H	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.D297H	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	297					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AAAGCATCATCATCACTCCCC	0.423																																						uc002yqn.2		NaN																	0				ovary(2)	2						c.(889-891)GAT>CAT		GC-rich sequence DNA-binding factor candidate							238.0	241.0	240.0					21																	34133456		2203	4300	6503	SO:0001583	missense	94104					cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:34133456C>G	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.889G>C	21.37:g.34133456C>G	ENSP00000328992:p.Asp297His					GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Missense_Mutation_p.D297H|GCFC1_uc002yqr.2_Missense_Mutation_p.D297H	p.D297H	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN			5	1079	-			297					D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	c.889G>C	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933900	0.92458	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.36340	1.69;1.26	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.59335	0.2186	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.972	T	0.56643	-0.7945	10	0.72032	D	0.01	-29.9507	20.2672	0.98462	0.0:1.0:0.0:0.0	.	297;297	Q9Y5B6-2;Q9Y5B6	.;GCFC1_HUMAN	H	297	ENSP00000328992:D297H;ENSP00000290178:D297H	ENSP00000290178:D297H	D	-	1	0	GCFC1	33055327	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.372000	0.79612	2.894000	0.99253	0.591000	0.81541	GAT		0.423	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1		NM_013329		60	194	0	0	0	1	0	60	194		
KCNE2	9992	broad.mit.edu	37	21	35743045	35743045	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:35743045G>C	ENST00000290310.3	+	2	408	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	AP000320.6_ENST00000440403.1_RNA	NM_172201.1	NP_751951.1	Q9Y6J6	KCNE2_HUMAN	potassium voltage-gated channel, Isk-related family, member 2	90					aging (GO:0007568)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular protein localization (GO:0034613)|cellular response to drug (GO:0035690)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|positive regulation of proteasomal protein catabolic process (GO:1901800)|potassium ion export (GO:0071435)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of cyclic nucleotide-gated ion channel activity (GO:1902159)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of inward rectifier potassium channel activity (GO:1901979)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|tongue development (GO:0043586)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|large_intestine(1)	2						GTACATTGTAGAGGACTGGCA	0.483																																						uc002ytt.1		NaN																	0					0						c.(268-270)GAG>CAG		potassium voltage-gated channel, Isk-related							81.0	74.0	76.0					21																	35743045		2203	4300	6503	SO:0001583	missense	9992				blood circulation|muscle contraction|regulation of heart contraction	lysosome|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr21:35743045G>C	AF071002	CCDS13635.1	21q22.1	2014-09-17			ENSG00000159197	ENSG00000159197		"""Potassium channels"""	6242	protein-coding gene	gene with protein product		603796				10219239	Standard	NM_172201		Approved	MiRP1, LQT6	uc002ytt.1	Q9Y6J6	OTTHUMG00000086189	ENST00000290310.3:c.268G>C	21.37:g.35743045G>C	ENSP00000290310:p.Glu90Gln						p.E90Q	NM_172201	NP_751951	Q9Y6J6	KCNE2_HUMAN			2	408	+			90			Cytoplasmic (Potential).		A5H1P3|D3DSF8|Q52LJ5	Missense_Mutation	SNP	ENST00000290310.3	37	c.268G>C	CCDS13635.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.652883	0.47362	.	.	ENSG00000159197	ENST00000290310	D	0.92595	-3.07	5.66	4.76	0.60689	.	0.395940	0.24594	N	0.037192	D	0.84696	0.5529	N	0.19112	0.55	0.36797	D	0.885157	B	0.15930	0.015	B	0.19148	0.024	T	0.81502	-0.0904	10	0.39692	T	0.17	-3.9529	9.6175	0.39701	0.0743:0.1434:0.7823:0.0	.	90	Q9Y6J6	KCNE2_HUMAN	Q	90	ENSP00000290310:E90Q	ENSP00000290310:E90Q	E	+	1	0	KCNE2	34664915	1.000000	0.71417	0.872000	0.34217	0.919000	0.55068	5.477000	0.66799	1.344000	0.45657	0.655000	0.94253	GAG		0.483	KCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194068.2				14	39	0	0	0	1	0	14	39		
DOPEY2	9980	broad.mit.edu	37	21	37617591	37617591	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:37617591G>C	ENST00000399151.3	+	19	3398	c.3313G>C	c.(3313-3315)Gac>Cac	p.D1105H		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1105					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CGGCGCCCCGGACAGCAGCGA	0.647																																						uc002yvg.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3313-3315)GAC>CAC		pad-1-like							116.0	86.0	96.0					21																	37617591		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37617591G>C	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.3313G>C	21.37:g.37617591G>C	ENSP00000382104:p.Asp1105His					DOPEY2_uc011aeb.1_Missense_Mutation_p.D1054H|DOPEY2_uc002yvh.2_5'UTR	p.D1105H	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			19	3392	+			1105					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.3313G>C	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180505	0.57800	.	.	ENSG00000142197	ENST00000399151	T	0.30448	1.53	5.36	5.36	0.76844	.	0.520028	0.20825	N	0.084988	T	0.52008	0.1708	M	0.61703	1.905	0.54753	D	0.999987	D;D	0.64830	0.994;0.989	P;P	0.59595	0.86;0.728	T	0.52518	-0.8565	10	0.72032	D	0.01	.	19.4593	0.94910	0.0:0.0:1.0:0.0	.	1105;1105	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	H	1105	ENSP00000382104:D1105H	ENSP00000382104:D1105H	D	+	1	0	DOPEY2	36539461	1.000000	0.71417	0.934000	0.37439	0.193000	0.23685	5.387000	0.66243	2.671000	0.90904	0.650000	0.86243	GAC		0.647	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1		NM_005128		21	104	0	0	0	1	0	21	104		
DOPEY2	9980	broad.mit.edu	37	21	37617864	37617864	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:37617864G>A	ENST00000399151.3	+	19	3671	c.3586G>A	c.(3586-3588)Gag>Aag	p.E1196K		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1196					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTCCAGCGACGAGGAGGCGGA	0.617																																						uc002yvg.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3586-3588)GAG>AAG		pad-1-like							42.0	40.0	41.0					21																	37617864		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37617864G>A	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.3586G>A	21.37:g.37617864G>A	ENSP00000382104:p.Glu1196Lys					DOPEY2_uc011aeb.1_Missense_Mutation_p.E1145K|DOPEY2_uc002yvh.2_Missense_Mutation_p.E47K	p.E1196K	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			19	3665	+			1196					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.3586G>A	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928594	0.73327	.	.	ENSG00000142197	ENST00000399151	T	0.41065	1.01	5.15	4.23	0.50019	.	0.248975	0.42964	D	0.000636	T	0.53610	0.1807	L	0.59436	1.845	0.52501	D	0.999958	D;D	0.65815	0.995;0.991	P;P	0.55871	0.786;0.616	T	0.55055	-0.8200	10	0.44086	T	0.13	.	14.917	0.70805	0.0:0.0:0.8556:0.1444	.	1196;1196	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	K	1196	ENSP00000382104:E1196K	ENSP00000382104:E1196K	E	+	1	0	DOPEY2	36539734	1.000000	0.71417	0.997000	0.53966	0.660000	0.38997	7.450000	0.80656	1.246000	0.43901	0.655000	0.94253	GAG		0.617	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1		NM_005128		22	71	0	0	0	1	0	22	71		
DOPEY2	9980	broad.mit.edu	37	21	37618604	37618604	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:37618604G>A	ENST00000399151.3	+	19	4411	c.4326G>A	c.(4324-4326)ctG>ctA	p.L1442L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1442					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTGAGCTGCTGAAGCTGCTGC	0.612																																						uc002yvg.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(4324-4326)CTG>CTA		pad-1-like							36.0	38.0	37.0					21																	37618604		2203	4300	6503	SO:0001819	synonymous_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37618604G>A	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.4326G>A	21.37:g.37618604G>A						DOPEY2_uc011aeb.1_Silent_p.L1391L|DOPEY2_uc002yvh.2_Silent_p.L293L	p.L1442L	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			19	4405	+			1442					D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	c.4326G>A	CCDS13643.1																																																																																				0.612	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1		NM_005128		16	43	0	0	0	1	0	16	43		
DOPEY2	9980	broad.mit.edu	37	21	37618697	37618697	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:37618697G>C	ENST00000399151.3	+	19	4504	c.4419G>C	c.(4417-4419)caG>caC	p.Q1473H		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1473					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGAGTGGCAGAGAGCCCTGA	0.647																																						uc002yvg.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(4417-4419)CAG>CAC		pad-1-like							32.0	32.0	32.0					21																	37618697		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37618697G>C	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.4419G>C	21.37:g.37618697G>C	ENSP00000382104:p.Gln1473His					DOPEY2_uc011aeb.1_Missense_Mutation_p.Q1422H|DOPEY2_uc002yvh.2_Missense_Mutation_p.Q324H	p.Q1473H	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			19	4498	+			1473					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.4419G>C	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.701002	0.48307	.	.	ENSG00000142197	ENST00000399151	T	0.25250	1.81	5.86	3.9	0.45041	.	0.234553	0.45126	D	0.000399	T	0.32704	0.0838	L	0.43923	1.385	0.27929	N	0.937932	D;P	0.54397	0.966;0.943	P;P	0.62435	0.902;0.8	T	0.06570	-1.0819	10	0.29301	T	0.29	-0.7555	6.6503	0.22959	0.1951:0.1387:0.6662:0.0	.	1473;1473	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	H	1473	ENSP00000382104:Q1473H	ENSP00000382104:Q1473H	Q	+	3	2	DOPEY2	36540567	0.985000	0.35326	0.864000	0.33941	0.979000	0.70002	0.854000	0.27791	2.778000	0.95560	0.655000	0.94253	CAG		0.647	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1		NM_005128		8	33	0	0	0	1	0	8	33		
DOPEY2	9980	broad.mit.edu	37	21	37620841	37620841	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:37620841C>G	ENST00000399151.3	+	21	5058	c.4973C>G	c.(4972-4974)tCt>tGt	p.S1658C		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1658					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAGGGATCCTCTTCCGTTTAC	0.438																																						uc002yvg.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(4972-4974)TCT>TGT		pad-1-like							83.0	76.0	78.0					21																	37620841		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37620841C>G	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.4973C>G	21.37:g.37620841C>G	ENSP00000382104:p.Ser1658Cys					DOPEY2_uc011aeb.1_Missense_Mutation_p.S1607C|DOPEY2_uc002yvh.2_Missense_Mutation_p.S509C	p.S1658C	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			21	5052	+			1658					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.4973C>G	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190360	0.78789	.	.	ENSG00000142197	ENST00000399151	T	0.13657	2.57	5.46	5.46	0.80206	.	0.052788	0.85682	D	0.000000	T	0.38719	0.1051	M	0.70595	2.14	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.979	T	0.03139	-1.1068	10	0.38643	T	0.18	-17.3459	19.3096	0.94182	0.0:1.0:0.0:0.0	.	1658;1658	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	C	1658	ENSP00000382104:S1658C	ENSP00000382104:S1658C	S	+	2	0	DOPEY2	36542711	1.000000	0.71417	0.942000	0.38095	0.683000	0.39861	5.459000	0.66685	2.577000	0.86979	0.650000	0.86243	TCT		0.438	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1		NM_005128		12	54	0	0	0	1	0	12	54		
MORC3	23515	broad.mit.edu	37	21	37717293	37717293	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:37717293C>T	ENST00000400485.1	+	8	1045	c.969C>T	c.(967-969)ctC>ctT	p.L323L	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	323					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GAAATAGACTCATCAAAGCTT	0.279																																						uc002yvi.2		NaN																	0				ovary(2)	2						c.(967-969)CTC>CTT		MORC family CW-type zinc finger 3							87.0	87.0	87.0					21																	37717293		1816	4072	5888	SO:0001819	synonymous_variant	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37717293C>T	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.969C>T	21.37:g.37717293C>T							p.L323L	NM_015358	NP_056173	Q14149	MORC3_HUMAN			8	1045	+			323					A8KA92|Q9UEZ2	Silent	SNP	ENST00000400485.1	37	c.969C>T	CCDS42924.1																																																																																				0.279	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1		NM_015358		9	26	0	0	0	1	0	9	26		
DSCAM	1826	broad.mit.edu	37	21	41561016	41561016	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:41561016G>C	ENST00000400454.1	-	12	2983	c.2506C>G	c.(2506-2508)Ctt>Gtt	p.L836V		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	836	Ig-like C2-type 9.				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)				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)				GTGGACACAAGATAACGGGCC	0.473																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NaN																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(2506-2508)CTT>GTT		Down syndrome cell adhesion molecule isoform							151.0	149.0	150.0					21																	41561016		1967	4149	6116	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.chr21:41561016G>C	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.2506C>G	21.37:g.41561016G>C	ENSP00000383303:p.Leu836Val					DSCAM_uc002yyr.1_RNA	p.L836V	NM_001389	NP_001380	O60469	DSCAM_HUMAN			12	2958	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	836			Ig-like C2-type 9.|Extracellular (Potential).		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.2506C>G	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	5.567	0.289370	0.10513	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.66815	-0.23;-0.23	5.28	4.39	0.52855	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.520258	0.20082	N	0.099634	T	0.41994	0.1183	N	0.04994	-0.135	0.33985	D	0.648461	B	0.09022	0.002	B	0.08055	0.003	T	0.46400	-0.9194	10	0.25751	T	0.34	.	8.782	0.34798	0.0751:0.0:0.7737:0.1512	.	836	O60469	DSCAM_HUMAN	V	836;588	ENSP00000383303:L836V;ENSP00000385342:L588V	ENSP00000383303:L836V	L	-	1	0	DSCAM	40482886	1.000000	0.71417	0.033000	0.17914	0.775000	0.43874	4.197000	0.58413	1.182000	0.42928	-0.314000	0.08810	CTT		0.473	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1		NM_001389		39	113	0	0	0	1	0	39	113		
TMPRSS2	7113	broad.mit.edu	37	21	42845282	42845282	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:42845282C>T	ENST00000332149.5	-	9	1003	c.869G>A	c.(868-870)tGg>tAg	p.W290*	TMPRSS2_ENST00000398585.3_Nonsense_Mutation_p.W327*|TMPRSS2_ENST00000458356.1_Nonsense_Mutation_p.W290*	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	290	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TGTCACGATCCACTCGGGGGT	0.706			T	"""ERG, ETV1, ETV4, ETV5"""	prostate																																	uc002yzj.2		NaN		Dom	yes		21	21q22.3	7113	T	"""transmembrane protease, serine 2"""			E	ERG|ETV1|ETV4|ETV5		prostate 	TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24)	0				prostate(2523)|central_nervous_system(1)	2524						c.(868-870)TGG>TAG		transmembrane protease, serine 2 isoform 2							20.0	18.0	19.0					21																	42845282		2178	4278	6456	SO:0001587	stop_gained	7113				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42845282C>T	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"""Serine peptidases / Transmembrane"""	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.869G>A	21.37:g.42845282C>T	ENSP00000330330:p.Trp290*					TMPRSS2_uc010gor.2_Nonsense_Mutation_p.W327*|TMPRSS2_uc010gos.1_Nonsense_Mutation_p.W290*	p.W290*	NM_005656	NP_005647	O15393	TMPS2_HUMAN			9	1003	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	290			Peptidase S1.|Extracellular (Potential).		A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Nonsense_Mutation	SNP	ENST00000332149.5	37	c.869G>A	CCDS33564.1	.	.	.	.	.	.	.	.	.	.	C	39	7.612219	0.98390	.	.	ENSG00000184012	ENST00000332149;ENST00000398585;ENST00000458356;ENST00000454499	.	.	.	5.31	5.31	0.75309	.	0.178312	0.40818	N	0.001008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.997	0.41905	0.0:0.908:0.0:0.092	.	.	.	.	X	290;327;290;290	.	ENSP00000330330:W290X	W	-	2	0	TMPRSS2	41767152	1.000000	0.71417	0.998000	0.56505	0.743000	0.42351	5.413000	0.66399	2.476000	0.83614	0.650000	0.86243	TGG		0.706	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1				10	24	0	0	0	1	0	10	24		
PDE9A	5152	broad.mit.edu	37	21	44192610	44192610	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:44192610G>C	ENST00000291539.6	+	19	1808	c.1748G>C	c.(1747-1749)aGa>aCa	p.R583T	PDE9A_ENST00000398225.3_Missense_Mutation_p.R542T|PDE9A_ENST00000398227.3_Missense_Mutation_p.R423T|PDE9A_ENST00000328862.6_Missense_Mutation_p.R557T|PDE9A_ENST00000398224.3_Missense_Mutation_p.R456T|PDE9A_ENST00000398232.3_Missense_Mutation_p.R516T|PDE9A_ENST00000398229.3_Missense_Mutation_p.R449T|PDE9A_ENST00000539837.1_Missense_Mutation_p.R455T|PDE9A_ENST00000335440.6_Missense_Mutation_p.R481T|PDE9A_ENST00000335512.4_Missense_Mutation_p.R523T|PDE9A_ENST00000380328.2_Missense_Mutation_p.R530T|PDE9A_ENST00000398236.3_Missense_Mutation_p.R497T|PDE9A_ENST00000398234.3_Missense_Mutation_p.R482T|PDE9A_ENST00000349112.3_Missense_Mutation_p.R455T|PDE9A_ENST00000470987.1_3'UTR	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	583					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	GAGAGAAGCAGAGATGTGAAA	0.498																																						uc002zbm.2		NaN																	0				ovary(1)|skin(1)	2						c.(1747-1749)AGA>ACA		phosphodiesterase 9A isoform a							78.0	63.0	68.0					21																	44192610		2203	4300	6503	SO:0001583	missense	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44192610G>C	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.1748G>C	21.37:g.44192610G>C	ENSP00000291539:p.Arg583Thr					PDE9A_uc002zbn.2_Missense_Mutation_p.R456T|PDE9A_uc002zbo.2_Missense_Mutation_p.R530T|PDE9A_uc002zbp.2_Missense_Mutation_p.R376T|PDE9A_uc002zbq.2_Missense_Mutation_p.R481T|PDE9A_uc002zbs.2_Missense_Mutation_p.R376T|PDE9A_uc002zbr.2_Missense_Mutation_p.R376T|PDE9A_uc002zbt.2_Missense_Mutation_p.R455T|PDE9A_uc002zbu.2_Missense_Mutation_p.R449T|PDE9A_uc002zbv.2_Missense_Mutation_p.R423T|PDE9A_uc002zbw.2_Missense_Mutation_p.R366T|PDE9A_uc002zbx.2_Missense_Mutation_p.R523T|PDE9A_uc002zby.2_Missense_Mutation_p.R366T|PDE9A_uc002zbz.2_Missense_Mutation_p.R475T|PDE9A_uc002zca.2_Missense_Mutation_p.R542T|PDE9A_uc002zcb.2_Missense_Mutation_p.R557T|PDE9A_uc002zcc.2_Missense_Mutation_p.R482T|PDE9A_uc002zcd.2_Missense_Mutation_p.R497T|PDE9A_uc002zce.2_Missense_Mutation_p.R516T|PDE9A_uc002zcf.2_Missense_Mutation_p.R376T|PDE9A_uc002zcg.2_Missense_Mutation_p.R376T|PDE9A_uc002zch.2_Missense_Mutation_p.R366T	p.R583T	NM_002606	NP_002597	O76083	PDE9A_HUMAN			19	1811	+			583					B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	ENST00000291539.6	37	c.1748G>C	CCDS13690.1	.	.	.	.	.	.	.	.	.	.	G	3.775	-0.046899	0.07407	.	.	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69040	-0.32;-0.32;-0.34;-0.32;-0.37;-0.33;-0.32;-0.36;-0.37;-0.35;-0.32;-0.32;-0.32;-0.33	3.4	0.162	0.14981	.	3.949420	0.00649	N	0.000545	T	0.43344	0.1243	N	0.14661	0.345	0.09310	N	0.999996	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.16802	0.006;0.0;0.0;0.004;0.019;0.006;0.0;0.0;0.0;0.0;0.003;0.019;0.002;0.0;0.004	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.11329	0.006;0.002;0.003;0.006;0.004;0.003;0.002;0.002;0.003;0.003;0.004;0.004;0.003;0.003;0.003	T	0.20538	-1.0272	10	0.08837	T	0.75	.	1.1888	0.01860	0.2072:0.1666:0.4564:0.1698	.	516;497;482;557;542;475;523;366;423;449;455;481;530;456;583	O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-10;O76083-9;O76083-11;O76083-4;O76083-12;O76083-5;O76083-3;O76083	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PDE9A_HUMAN	T	523;455;583;530;516;482;497;557;481;542;449;423;455;456	ENSP00000335242:R523T;ENSP00000441899:R455T;ENSP00000291539:R583T;ENSP00000369685:R530T;ENSP00000381287:R516T;ENSP00000381289:R482T;ENSP00000381291:R497T;ENSP00000328699:R557T;ENSP00000335365:R481T;ENSP00000381281:R542T;ENSP00000381285:R449T;ENSP00000381283:R423T;ENSP00000344730:R455T;ENSP00000381280:R456T	ENSP00000291539:R583T	R	+	2	0	PDE9A	43065679	0.998000	0.40836	0.213000	0.23690	0.044000	0.14063	0.297000	0.19101	0.032000	0.15435	-0.233000	0.12211	AGA		0.498	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1				6	15	0	0	0	1	0	6	15		
PWP2	5822	broad.mit.edu	37	21	45548494	45548494	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:45548494G>A	ENST00000291576.7	+	20	2699	c.2572G>A	c.(2572-2574)Gac>Aac	p.D858N		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	858					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GCACCTGGACGACCTGTCGAA	0.632																																						uc002zeb.2		NaN																	0				pancreas(1)	1						c.(2572-2574)GAC>AAC		PWP2 periodic tryptophan protein homolog							43.0	36.0	38.0					21																	45548494		2203	4300	6503	SO:0001583	missense	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45548494G>A		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.2572G>A	21.37:g.45548494G>A	ENSP00000291576:p.Asp858Asn						p.D858N	NM_005049	NP_005040	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	20	2662	+			858					B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	37	c.2572G>A	CCDS33579.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854019	0.32791	.	.	ENSG00000241945;ENSG00000248354	ENST00000291576;ENST00000433711	T	0.59502	0.26	4.05	1.06	0.20224	.	0.421535	0.27650	N	0.018427	T	0.48995	0.1531	M	0.64997	1.995	0.22240	N	0.999268	B	0.23316	0.083	B	0.19666	0.026	T	0.44221	-0.9342	10	0.51188	T	0.08	-1.3138	7.151	0.25610	0.1648:0.1408:0.6944:0.0	.	858	Q15269	PWP2_HUMAN	N	858;40	ENSP00000291576:D858N	ENSP00000415634:D40N	D	+	1	0	AP001055.7;PWP2	44372922	0.923000	0.31300	0.005000	0.12908	0.299000	0.27559	4.045000	0.57368	0.085000	0.17107	-0.253000	0.11424	GAC		0.632	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3		NM_005049		8	36	0	0	0	1	0	8	36		
KRTAP10-9	386676	broad.mit.edu	37	21	46047228	46047228	+	Missense_Mutation	SNP	G	G	A	rs587734825		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:46047228G>A	ENST00000397911.3	+	1	189	c.140G>A	c.(139-141)tGc>tAc	p.C47Y	KRTAP10-9_ENST00000484861.1_3'UTR|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	47	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						ACCCTGGTCTGCACCCCAGTG	0.701													G|||	1	0.000199681	0.0	0.0	5008	,	,		16447	0.001		0.0	False		,,,				2504	0.0					uc002zfp.3		NaN																	0					0						c.(139-141)TGC>TAC		keratin associated protein 10-9							41.0	50.0	47.0					21																	46047228		2179	4278	6457	SO:0001583	missense	386676					keratin filament		g.chr21:46047228G>A	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"""Keratin associated proteins"""	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.140G>A	21.37:g.46047228G>A	ENSP00000381009:p.Cys47Tyr					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.C47Y	NM_198690	NP_941963	P60411	KR109_HUMAN			1	189	+			47			25 X 5 AA repeats of C-C-X(3).		A2RRG1|A6NIR9|Q70LJ1	Missense_Mutation	SNP	ENST00000397911.3	37	c.140G>A	CCDS42961.1	.	.	.	.	.	.	.	.	.	.	g	8.484	0.860387	0.17178	.	.	ENSG00000221837	ENST00000397911	T	0.09445	2.98	3.7	3.7	0.42460	.	.	.	.	.	T	0.34978	0.0916	M	0.86178	2.8	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.35201	-0.9798	9	0.66056	D	0.02	.	13.2956	0.60294	0.0:0.0:1.0:0.0	.	47	P60411	KR109_HUMAN	Y	47	ENSP00000381009:C47Y	ENSP00000381009:C47Y	C	+	2	0	KRTAP10-9	44871656	0.954000	0.32549	0.175000	0.22980	0.207000	0.24258	1.740000	0.38228	1.775000	0.52247	0.655000	0.94253	TGC		0.701	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1				36	146	0	0	0	1	0	36	146		
ADARB1	104	broad.mit.edu	37	21	46596309	46596309	+	Silent	SNP	G	G	A	rs377458378		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:46596309G>A	ENST00000360697.3	+	2	708	c.693G>A	c.(691-693)ccG>ccA	p.P231P	ADARB1_ENST00000389863.4_Silent_p.P231P|ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000539173.1_Silent_p.P231P|ADARB1_ENST00000348831.4_Silent_p.P231P			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	231	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		TCCCACCCCCGAGTGGGAAGA	0.597																																						uc002zgy.2		NaN																	0				skin(1)	1						c.(691-693)CCG>CCA		RNA-specific adenosine deaminase B1 isoform 2		G	,,,	0,4406		0,0,2203	87.0	81.0	83.0		693,693,693,693	-10.6	0.0	21		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ADARB1	NM_001112.3,NM_001160230.1,NM_015833.3,NM_015834.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	231/702,231/675,231/742,231/715	46596309	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	104				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	g.chr21:46596309G>A	U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"""RED1 homolog (rat)"""	601218	"""adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"""			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.693G>A	21.37:g.46596309G>A						ADARB1_uc002zgr.2_Silent_p.P231P|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Silent_p.P231P|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Silent_p.P231P|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA|ADARB1_uc011afo.1_Silent_p.P280P	p.P231P	NM_015833	NP_056648	P78563	RED1_HUMAN		Colorectal(79;0.115)	4	1128	+			231			DRBM 2.		A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Silent	SNP	ENST00000360697.3	37	c.693G>A	CCDS33589.1																																																																																				0.597	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2		NM_015833		21	84	0	0	0	1	0	21	84		
PCNT	5116	broad.mit.edu	37	21	47851626	47851626	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:47851626G>C	ENST00000359568.5	+	38	8355	c.8248G>C	c.(8248-8250)Gag>Cag	p.E2750Q	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2750					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCTTGCGGCTGAGAAGAGCCG	0.647																																						uc002zji.3		NaN																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(8248-8250)GAG>CAG		pericentrin							24.0	25.0	25.0					21																	47851626		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47851626G>C	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8248G>C	21.37:g.47851626G>C	ENSP00000352572:p.Glu2750Gln					PCNT_uc002zjj.2_Missense_Mutation_p.E2632Q	p.E2750Q	NM_006031	NP_006022	O95613	PCNT_HUMAN			38	8355	+	Breast(49;0.112)		2750			Potential.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.8248G>C	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289284	0.40494	.	.	ENSG00000160299	ENST00000359568	T	0.13657	2.57	5.32	5.32	0.75619	.	0.240787	0.21670	N	0.070895	T	0.34366	0.0895	M	0.70275	2.135	0.30356	N	0.784301	D;D	0.89917	1.0;0.998	D;P	0.70935	0.971;0.863	T	0.25710	-1.0124	10	0.10111	T	0.7	.	18.371	0.90407	0.0:0.0:1.0:0.0	.	2632;2750	O95613-2;O95613	.;PCNT_HUMAN	Q	2750	ENSP00000352572:E2750Q	ENSP00000352572:E2750Q	E	+	1	0	PCNT	46676054	1.000000	0.71417	0.266000	0.24541	0.067000	0.16453	6.853000	0.75435	2.664000	0.90586	0.655000	0.94253	GAG		0.647	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1		NM_006031		7	36	0	0	0	1	0	7	36		
SLC7A4	6545	broad.mit.edu	37	22	21384215	21384215	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:21384215C>T	ENST00000382932.2	-	3	1475	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N	AC002472.11_ENST00000450652.1_RNA|SLC7A4_ENST00000403586.1_Missense_Mutation_p.D470N	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	470					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CTGTACCCATCCAAGAAGCCC	0.612																																						uc002zud.2		NaN																	0				ovary(1)|lung(1)	2						c.(1408-1410)GAT>AAT		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						46.0	39.0	42.0					22																	21384215		2203	4300	6503	SO:0001583	missense	6545				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity	g.chr22:21384215C>T	AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"""Solute carriers"""	11062	protein-coding gene	gene with protein product		603752	"""solute carrier family 7 (cationic amino acid transporter, y+ system), member 4"", ""solute carrier family 7 (orphan transporter), member 4"""			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.1408G>A	22.37:g.21384215C>T	ENSP00000372390:p.Asp470Asn					SLC7A4_uc002zue.2_Missense_Mutation_p.D470N	p.D470N	NM_004173	NP_004164	O43246	CTR4_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		3	1476	-	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	470					Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation	SNP	ENST00000382932.2	37	c.1408G>A	CCDS33608.1	.	.	.	.	.	.	.	.	.	.	C	9.067	0.996036	0.19043	.	.	ENSG00000099960	ENST00000403586;ENST00000382932	D;D	0.85088	-1.94;-1.94	5.46	2.92	0.33932	.	0.751185	0.13267	N	0.400802	T	0.75361	0.3839	L	0.40543	1.245	0.31038	N	0.716644	B	0.06786	0.001	B	0.06405	0.002	T	0.66705	-0.5856	10	0.24483	T	0.36	.	5.3264	0.15908	0.0:0.6305:0.0:0.3695	.	470	O43246	CTR4_HUMAN	N	470	ENSP00000384278:D470N;ENSP00000372390:D470N	ENSP00000372390:D470N	D	-	1	0	SLC7A4	19714215	0.228000	0.23718	0.707000	0.30419	0.665000	0.39181	0.744000	0.26245	1.349000	0.45751	-0.367000	0.07326	GAT		0.612	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1		NM_004173		16	48	0	0	0	1	0	16	48		
MYO18B	84700	broad.mit.edu	37	22	26176157	26176157	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:26176157C>G	ENST00000407587.2	+	9	2372	c.2203C>G	c.(2203-2205)Cag>Gag	p.Q735E	MYO18B_ENST00000335473.7_Missense_Mutation_p.Q735E|MYO18B_ENST00000536101.1_Missense_Mutation_p.Q735E			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	735	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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						CACAGCTGCTCAGCTCCAGGT	0.657																																						uc003abz.1		NaN																	0				ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(2203-2205)CAG>GAG		myosin XVIIIB							16.0	17.0	17.0					22																	26176157		2108	4223	6331	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26176157C>G	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.2203C>G	22.37:g.26176157C>G	ENSP00000386096:p.Gln735Glu					MYO18B_uc003aca.1_Missense_Mutation_p.Q616E|MYO18B_uc010guy.1_Missense_Mutation_p.Q616E|MYO18B_uc010guz.1_Missense_Mutation_p.Q616E|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Missense_Mutation_p.Q248E	p.Q735E	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			9	2453	+			735			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.2203C>G		.	.	.	.	.	.	.	.	.	.	C	15.85	2.954983	0.53293	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86769	-2.17;-2.17;-2.17	5.38	5.38	0.77491	Myosin head, motor domain (2);	0.062013	0.64402	D	0.000006	D	0.87877	0.6288	L	0.40543	1.245	0.80722	D	1	P;P;P;P	0.45428	0.829;0.858;0.792;0.829	B;P;B;P	0.50860	0.322;0.652;0.415;0.52	D	0.87769	0.2604	10	0.46703	T	0.11	.	18.1397	0.89636	0.0:1.0:0.0:0.0	.	248;735;735;735	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	E	735	ENSP00000441229:Q735E;ENSP00000334563:Q735E;ENSP00000386096:Q735E	ENSP00000334563:Q735E	Q	+	1	0	MYO18B	24506157	0.038000	0.19896	0.994000	0.49952	0.146000	0.21551	1.516000	0.35856	2.514000	0.84764	0.655000	0.94253	CAG		0.657	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1		NM_032608		6	22	0	0	0	1	0	6	22		
RASL10A	10633	broad.mit.edu	37	22	29707904	29707904	+	IGR	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:29707904C>T	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000407647.2_Missense_Mutation_p.S488F|GAS2L1_ENST00000341313.6_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000403764.1_Missense_Mutation_p.S488F|RASL10A_ENST00000608559.1_5'Flank|GAS2L1_ENST00000471961.1_Missense_Mutation_p.S488F|GAS2L1_ENST00000407854.1_Missense_Mutation_p.S488F|GAS2L1_ENST00000406549.3_Intron	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						TTTCCCGGGTCTCCAGCCCCA	0.716																																						uc003afa.1		NaN																	0					0						c.(1462-1464)GTC>GTT		growth arrest-specific 2 like 1 isoform a							12.0	16.0	15.0					22																	29707904		2021	4104	6125	SO:0001628	intergenic_variant	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29707904C>T	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29707904C>T						GAS2L1_uc010gvm.1_Intron|GAS2L1_uc003afb.1_3'UTR|GAS2L1_uc003afc.1_Silent_p.V488V|GAS2L1_uc003afd.1_Missense_Mutation_p.S488F|GAS2L1_uc003afe.1_Missense_Mutation_p.S488F	p.V488V	NM_152236	NP_689422	Q99501	GA2L1_HUMAN			7	1663	+			488					Q49AU5|Q6PI03	Silent	SNP	ENST00000216101.6	37	c.1464C>T	CCDS13854.1	.	.	.	.	.	.	.	.	.	.	c	5.687	0.311253	0.10789	.	.	ENSG00000185340	ENST00000407647;ENST00000403764;ENST00000471961;ENST00000407854	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	3.3	1.18	0.20946	.	.	.	.	.	T	0.20901	0.0503	N	0.08118	0	0.21105	N	0.999788	B	0.02656	0.0	B	0.04013	0.001	T	0.25950	-1.0117	9	0.09843	T	0.71	-5.4339	4.8882	0.13713	0.2103:0.6727:0.0:0.1169	.	488	E7EQM6	.	F	488	ENSP00000385554:S488F;ENSP00000385358:S488F;ENSP00000450152:S488F;ENSP00000385023:S488F	ENSP00000385358:S488F	S	+	2	0	GAS2L1	28037904	0.006000	0.16342	0.008000	0.14137	0.095000	0.18619	0.088000	0.14979	0.150000	0.19136	-0.323000	0.08544	TCT		0.716	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1				19	50	0	0	0	1	0	19	50		
MTFP1	51537	broad.mit.edu	37	22	30822740	30822740	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:30822740C>T	ENST00000266263.5	+	2	453	c.103C>T	c.(103-105)Ctt>Ttt	p.L35F	MTFP1_ENST00000355143.4_Missense_Mutation_p.L35F|RP4-539M6.19_ENST00000439838.1_Missense_Mutation_p.L207F|MTFP1_ENST00000407550.3_Missense_Mutation_p.L35F	NM_016498.4	NP_057582.2	Q9UDX5	MTFP1_HUMAN	mitochondrial fission process 1	35					apoptotic process (GO:0006915)|mitochondrial fission (GO:0000266)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|large_intestine(1)|lung(2)	4						TTTCCGCTCTCTTGTGCCAGC	0.602											OREG0026460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ahw.1		NaN																	0					0						c.(103-105)CTT>TTT		mitochondrial protein 18 kDa isoform a							84.0	74.0	78.0					22																	30822740		2203	4300	6503	SO:0001583	missense	51537				apoptosis|carbon utilization	integral to membrane|mitochondrial inner membrane	carbonate dehydratase activity|zinc ion binding	g.chr22:30822740C>T	AF151076	CCDS33634.1, CCDS33635.1	22q	2010-09-02			ENSG00000242114	ENSG00000242114			26945	protein-coding gene	gene with protein product		610235				15155745, 15985469	Standard	NM_016498		Approved	MTP18, HSPC242		Q9UDX5	OTTHUMG00000151057	ENST00000266263.5:c.103C>T	22.37:g.30822740C>T	ENSP00000266263:p.Leu35Phe		OREG0026460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	820	SEC14L2_uc010gvw.1_Intron|MTP18_uc010gvx.1_Intron|MTP18_uc003ahv.1_Missense_Mutation_p.L197F|MTP18_uc010gvy.1_Intron|MTP18_uc003ahx.1_Missense_Mutation_p.L35F	p.L35F	NM_016498	NP_057582	Q9UDX5	MTFP1_HUMAN			2	251	+			35			Helical; (Potential).		A6NFQ5|Q9H3K1|Q9P0N6	Missense_Mutation	SNP	ENST00000266263.5	37	c.103C>T	CCDS33635.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721186	0.68959	.	.	ENSG00000249590;ENSG00000242114;ENSG00000242114;ENSG00000242114	ENST00000439838;ENST00000266263;ENST00000355143;ENST00000407550	T;D	0.94376	-0.38;-3.41	5.58	-1.53	0.08611	.	0.382752	0.23758	N	0.044847	D	0.92912	0.7745	L	0.48986	1.54	0.53688	D	0.999974	D;B	0.59767	0.986;0.013	P;B	0.60012	0.867;0.077	D	0.89758	0.3945	10	0.41790	T	0.15	-2.1019	10.4185	0.44335	0.5114:0.4178:0.0:0.0708	.	35;35	Q9UDX5-2;Q9UDX5	.;MTFP1_HUMAN	F	207;35;35;35	ENSP00000415178:L207F;ENSP00000383926:L35F	ENSP00000266263:L35F	L	+	1	0	MTFP1;RP4-539M6.19	29152740	0.077000	0.21312	0.954000	0.39281	0.866000	0.49608	0.506000	0.22658	-0.015000	0.14150	0.655000	0.94253	CTT		0.602	MTFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321126.3		NM_016498		18	58	0	0	0	1	0	18	58		
OSBP2	23762	broad.mit.edu	37	22	31302219	31302219	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:31302219G>C	ENST00000332585.6	+	14	2748	c.2644G>C	c.(2644-2646)Gag>Cag	p.E882Q	OSBP2_ENST00000407373.1_Missense_Mutation_p.E709Q|OSBP2_ENST00000382310.3_Nonstop_Mutation_p.*875S|OSBP2_ENST00000446658.2_Missense_Mutation_p.E881Q|OSBP2_ENST00000403222.3_Missense_Mutation_p.E716Q|OSBP2_ENST00000401475.1_Missense_Mutation_p.E515Q|OSBP2_ENST00000535268.1_Missense_Mutation_p.E426Q|OSBP2_ENST00000437268.2_Missense_Mutation_p.E625Q	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	882					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						ACTGTGGTTTGAGAAGAGGCT	0.627																																						uc003aiy.1		NaN																	0				breast(1)|skin(1)	2						c.(2644-2646)GAG>CAG		oxysterol binding protein 2 isoform a							65.0	83.0	77.0					22																	31302219		2140	4247	6387	SO:0001583	missense	23762				lipid transport	membrane	lipid binding	g.chr22:31302219G>C		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.2644G>C	22.37:g.31302219G>C	ENSP00000332576:p.Glu882Gln					OSBP2_uc011ala.1_Missense_Mutation_p.E716Q|OSBP2_uc010gwc.1_Missense_Mutation_p.E709Q|OSBP2_uc011alb.1_Nonstop_Mutation_p.*875S|OSBP2_uc003aiz.1_Missense_Mutation_p.E881Q|OSBP2_uc003aja.1_Missense_Mutation_p.E515Q|OSBP2_uc011alc.1_Missense_Mutation_p.E625Q|OSBP2_uc003ajb.2_Missense_Mutation_p.E427Q|OSBP2_uc011ald.1_Missense_Mutation_p.E426Q|OSBP2_uc010gwd.1_Nonstop_Mutation_p.*365S	p.E882Q	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN			14	2748	+			882					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	37	c.2644G>C	CCDS43002.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	17.46|17.46|17.46	3.395533|3.395533|3.395533	0.62066|0.62066|0.62066	.|.|.	.|.|.	ENSG00000184792|ENSG00000184792|ENSG00000184792	ENST00000403222;ENST00000407373;ENST00000332585;ENST00000446658;ENST00000401475;ENST00000437268;ENST00000535268|ENST00000431368|ENST00000382310;ENST00000452656	T;T;T;T;T;T;T|.|.	0.30714|.|.	1.52;1.52;1.52;1.52;1.52;1.52;1.52|.|.	4.77|4.77|4.77	4.77|4.77|4.77	0.60923|0.60923|0.60923	.|.|.	0.116037|.|.	0.64402|.|.	D|.|.	0.000014|.|.	T|T|.	0.71239|0.71239|.	0.3316|0.3316|.	L|L|L	0.58510|0.58510|0.58510	1.815|1.815|1.815	0.80722|0.80722|0.80722	D|D|D	1|1|1	P;P;P;P;P|.|.	0.47106|.|.	0.694;0.74;0.74;0.89;0.89|.|.	B;P;P;P;P|.|.	0.48952|.|.	0.328;0.457;0.457;0.596;0.596|.|.	T|T|.	0.69932|0.69932|.	-0.5011|-0.5011|.	10|5|.	0.30078|.|.	T|.|.	0.28|.|.	-44.5401|-44.5401|-44.5401	17.5484|17.5484|17.5484	0.87869|0.87869|0.87869	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	625;716;709;881;882|.|.	F5H2A3;B4DKE4;Q6ZN50;Q0VF99;Q969R2|.|.	.;.;.;.;OSBP2_HUMAN|.|.	Q|F|S	716;709;882;881;515;625;426|553|875;451	ENSP00000384213:E716Q;ENSP00000385237:E709Q;ENSP00000332576:E882Q;ENSP00000392080:E881Q;ENSP00000385254:E515Q;ENSP00000389200:E625Q;ENSP00000438713:E426Q|.|.	ENSP00000332576:E882Q|.|.	E|L|X	+|+|+	1|3|2	0|2|2	OSBP2|OSBP2|OSBP2	29632219|29632219|29632219	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.947000|0.947000|0.947000	0.59692|0.59692|0.59692	3.600000|3.600000|3.600000	0.54052|0.54052|0.54052	2.467000|2.467000|2.467000	0.83353|0.83353|0.83353	0.555000|0.555000|0.555000	0.69702|0.69702|0.69702	GAG|TTG|TGA		0.627	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2		NM_030758		34	81	0	0	0	1	0	34	81		
MYH9	4627	broad.mit.edu	37	22	36718556	36718557	+	Missense_Mutation	DNP	TC	TC	CT			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:36718556_36718557TC>CT	ENST00000216181.5	-	6	852_853	c.622_623GA>AG	c.(622-624)GAg>AGg	p.E208R		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	208	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CAGCTGCCGCTCCAGCTCGCCC	0.683			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2		NaN		Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		0				breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(622-624)GAG>AGG		myosin, heavy polypeptide 9, non-muscle																																				SO:0001583	missense	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36718556_36718557TC>CT		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.622_623delinsCT	22.37:g.36718556_36718557delinsCT	ENSP00000216181:p.Glu208Arg					MYH9_uc003aph.1_Missense_Mutation_p.E72R	p.E208R	NM_002473	NP_002464	P35579	MYH9_HUMAN			6	853_854	-			208			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	DNP	ENST00000216181.5	37	c.622_623GA>AG	CCDS13927.1																																																																																				0.683	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3		NM_002473		37	59	0	0	0	1	0	37	59		
EP300	2033	broad.mit.edu	37	22	41513766	41513766	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:41513766C>T	ENST00000263253.7	+	2	1889	c.670C>T	c.(670-672)Cag>Tag	p.Q224*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	224					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGAGCCTCTTCAGCAGGGCTC	0.532			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NaN		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(670-672)CAG>TAG		E1A binding protein p300							54.0	45.0	48.0					22																	41513766		2203	4300	6503	SO:0001587	stop_gained	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41513766C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.670C>T	22.37:g.41513766C>T	ENSP00000263253:p.Gln224*						p.Q224*	NM_001429	NP_001420	Q09472	EP300_HUMAN			2	1065	+			224					B1AKC2	Nonsense_Mutation	SNP	ENST00000263253.7	37	c.670C>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	46	12.802434	0.99697	.	.	ENSG00000100393	ENST00000263253	.	.	.	6.17	5.16	0.70880	.	0.000000	0.46442	D	0.000298	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-6.0963	15.489	0.75590	0.1385:0.8615:0.0:0.0	.	.	.	.	X	224	.	ENSP00000263253:Q224X	Q	+	1	0	EP300	39843712	1.000000	0.71417	1.000000	0.80357	0.527000	0.34593	3.457000	0.53007	1.623000	0.50342	-0.152000	0.13540	CAG		0.532	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429		16	34	0	0	0	1	0	16	34		
EP300	2033	broad.mit.edu	37	22	41573148	41573148	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:41573148G>T	ENST00000263253.7	+	31	6652	c.5433G>T	c.(5431-5433)caG>caT	p.Q1811H	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1811	Binding region for E1A adenovirus.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ACATCAAGCAGAAGCTCCGGC	0.597			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NaN		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(5431-5433)CAG>CAT		E1A binding protein p300							51.0	53.0	52.0					22																	41573148		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.chr22:41573148G>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.5433G>T	22.37:g.41573148G>T	ENSP00000263253:p.Gln1811His						p.Q1811H	NM_001429	NP_001420	Q09472	EP300_HUMAN			31	5828	+			1811			Binding region for E1A adenovirus.		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.5433G>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.500463	0.01001	.	.	ENSG00000100393	ENST00000263253	D	0.82619	-1.63	5.62	-4.13	0.03904	Zinc finger, TAZ-type (2);	0.143577	0.31472	N	0.007583	T	0.48624	0.1510	N	0.01624	-0.795	0.39415	D	0.966823	B	0.06786	0.001	B	0.08055	0.003	T	0.51084	-0.8750	10	0.02654	T	1	-6.6405	9.768	0.40572	0.3553:0.1551:0.4896:0.0	.	1811	Q09472	EP300_HUMAN	H	1811	ENSP00000263253:Q1811H	ENSP00000263253:Q1811H	Q	+	3	2	EP300	39903094	0.512000	0.26186	0.987000	0.45799	0.191000	0.23601	-0.221000	0.09202	-0.583000	0.05921	0.561000	0.74099	CAG		0.597	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429		31	90	1	0	1.55811e-20	1	1.65592e-20	31	90		
NAGA	4668	broad.mit.edu	37	22	42463781	42463781	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:42463781G>A	ENST00000396398.3	-	3	844	c.312C>T	c.(310-312)ttC>ttT	p.F104F	NAGA_ENST00000403363.1_Silent_p.F104F|NAGA_ENST00000402937.1_Silent_p.F104F	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	104					carbohydrate catabolic process (GO:0016052)|glycolipid catabolic process (GO:0019377)|glycoside catabolic process (GO:0016139)|glycosylceramide catabolic process (GO:0046477)|oligosaccharide metabolic process (GO:0009311)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|alpha-N-acetylgalactosaminidase activity (GO:0008456)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AGTCAGCCAGGAAAGGAATGC	0.587																																						uc003bbx.2		NaN																	0				central_nervous_system(1)	1						c.(310-312)TTC>TTT		alpha-N-acetylgalactosaminidase precursor							103.0	86.0	92.0					22																	42463781		2203	4300	6503	SO:0001819	synonymous_variant	4668				glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity	g.chr22:42463781G>A		CCDS14030.1	22q13.2	2010-07-09			ENSG00000198951	ENSG00000198951	3.2.1.49		7631	protein-coding gene	gene with protein product		104170					Standard	NM_000262		Approved	D22S674	uc003bbw.4	P17050	OTTHUMG00000151276	ENST00000396398.3:c.312C>T	22.37:g.42463781G>A						NAGA_uc003bby.2_Silent_p.F104F|NAGA_uc003bbw.3_Silent_p.F104F	p.F104F	NM_000262	NP_000253	P17050	NAGAB_HUMAN			4	449	-			104						Silent	SNP	ENST00000396398.3	37	c.312C>T	CCDS14030.1																																																																																				0.587	NAGA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322056.1				30	95	0	0	0	1	0	30	95		
TCF20	6942	broad.mit.edu	37	22	42606970	42606970	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:42606970C>G	ENST00000359486.3	-	1	4478	c.4342G>C	c.(4342-4344)Gag>Cag	p.E1448Q	TCF20_ENST00000335626.4_Missense_Mutation_p.E1448Q|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1448					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCATGTGTCTCTGTCTTCACT	0.527																																						uc003bcj.1		NaN																	0				ovary(4)|skin(1)	5						c.(4342-4344)GAG>CAG		transcription factor 20 isoform 1							138.0	132.0	134.0					22																	42606970		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42606970C>G	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.4342G>C	22.37:g.42606970C>G	ENSP00000352463:p.Glu1448Gln					TCF20_uc003bck.1_Missense_Mutation_p.E1448Q|TCF20_uc003bnt.2_Missense_Mutation_p.E1448Q	p.E1448Q	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			1	4476	-			1448					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.4342G>C	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799541	0.50208	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.62498	0.02;0.02	5.8	4.73	0.59995	.	0.076263	0.53938	D	0.000044	T	0.60945	0.2308	L	0.27053	0.805	0.80722	D	1	D;P	0.53619	0.961;0.935	P;P	0.52159	0.691;0.494	T	0.64024	-0.6504	10	0.54805	T	0.06	-26.1281	16.3647	0.83312	0.0:0.8683:0.1317:0.0	.	1448;1448	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	Q	1448	ENSP00000352463:E1448Q;ENSP00000335561:E1448Q	ENSP00000335561:E1448Q	E	-	1	0	TCF20	40936914	0.988000	0.35896	0.987000	0.45799	0.937000	0.57800	3.438000	0.52871	2.755000	0.94549	0.655000	0.94253	GAG		0.527	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1		NM_181492		52	158	0	0	0	1	0	52	158		
ARFGAP3	26286	broad.mit.edu	37	22	43204836	43204836	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:43204836C>A	ENST00000263245.5	-	13	1476	c.1257G>T	c.(1255-1257)aaG>aaT	p.K419N	ARFGAP3_ENST00000437119.2_Missense_Mutation_p.K375N|ARFGAP3_ENST00000429508.2_Missense_Mutation_p.K347N	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	419					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGCCAAACTTCTTCTGGGCCT	0.423																																					GBM(58;544 1030 21460 27159 48838)	uc003bdd.2		NaN																	0				breast(1)	1						c.(1255-1257)AAG>AAT		ADP-ribosylation factor GTPase activating							170.0	157.0	161.0					22																	43204836		2203	4300	6503	SO:0001583	missense	26286				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding	g.chr22:43204836C>A	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"""ADP-ribosylation factor GTPase activating proteins"""	661	protein-coding gene	gene with protein product		612439	"""ADP-ribosylation factor GTPase activating protein 1"""	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.1257G>T	22.37:g.43204836C>A	ENSP00000263245:p.Lys419Asn					ARFGAP3_uc010gzf.2_Missense_Mutation_p.K375N	p.K419N	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN			13	1477	-			419					E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Missense_Mutation	SNP	ENST00000263245.5	37	c.1257G>T	CCDS14042.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.99|19.99	3.929006|3.929006	0.73327|0.73327	.|.	.|.	ENSG00000242247|ENSG00000242247	ENST00000453516|ENST00000263245;ENST00000429508;ENST00000437119	.|T;T;T	.|0.08102	.|3.31;3.13;3.25	4.82|4.82	3.72|3.72	0.42706|0.42706	.|.	.|0.140815	.|0.51477	.|D	.|0.000093	.|T	.|0.22085	.|0.0532	L|L	0.59436|0.59436	1.845|1.845	0.42021|0.42021	D|D	0.99098|0.99098	.|D;D	.|0.89917	.|0.998;1.0	.|D;D	.|0.85130	.|0.957;0.997	.|T	.|0.00443	.|-1.1736	.|10	.|0.87932	.|D	.|0	-23.0744|-23.0744	10.1209|10.1209	0.42621|0.42621	0.0:0.8568:0.0:0.1432|0.0:0.8568:0.0:0.1432	.|.	.|375;419	.|E9PB03;Q9NP61	.|.;ARFG3_HUMAN	X|N	222|419;347;375	.|ENSP00000263245:K419N;ENSP00000393959:K347N;ENSP00000388791:K375N	.|ENSP00000263245:K419N	E|K	-|-	1|3	0|2	ARFGAP3|ARFGAP3	41534780|41534780	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	0.975000|0.975000	0.29449|0.29449	2.214000|2.214000	0.71695|0.71695	0.563000|0.563000	0.77884|0.77884	GAA|AAG		0.423	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2		NM_014570		41	109	1	0	4.16155e-14	1	4.3788e-14	41	109		
PNPLA3	80339	broad.mit.edu	37	22	44342253	44342253	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:44342253G>A	ENST00000216180.3	+	9	1610	c.1437G>A	c.(1435-1437)aaG>aaA	p.K479K	PNPLA3_ENST00000423180.2_Silent_p.K475K	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	479					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				CACTAGAGAAGAGTCTGTGAG	0.512											OREG0026623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003bei.1		NaN																	0					0						c.(1435-1437)AAG>AAA		patatin-like phospholipase domain containing 3							75.0	81.0	79.0					22																	44342253		2203	4300	6503	SO:0001819	synonymous_variant	80339				triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity	g.chr22:44342253G>A		CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"""Patatin-like phospholipase domain containing"""	18590	protein-coding gene	gene with protein product		609567	"""chromosome 22 open reading frame 20"", ""adiponutrin"""	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.1437G>A	22.37:g.44342253G>A			OREG0026623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	923	PNPLA3_uc010gzm.1_Intron	p.K479K	NM_025225	NP_079501	Q9NST1	PLPL3_HUMAN			9	1610	+		Ovarian(80;0.024)|all_neural(38;0.0416)	479			Lumenal (Potential).		B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Silent	SNP	ENST00000216180.3	37	c.1437G>A	CCDS14054.1																																																																																				0.512	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318891.1		NM_025225		29	96	0	0	0	1	0	29	96		
PARVB	29780	broad.mit.edu	37	22	44395417	44395417	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:44395417G>T	ENST00000406477.3	+	2	205	c.75G>T	c.(73-75)agG>agT	p.R25S		NM_001003828.2	NP_001003828.1	Q9HBI1	PARVB_HUMAN	parvin, beta	0					actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				cctgcagcaggaggctggagc	0.498																																						uc003bem.2		NaN																	0					0						c.(73-75)AGG>AGT		parvin, beta isoform a							71.0	74.0	73.0					22																	44395417		2009	4176	6185	SO:0001583	missense	29780				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	g.chr22:44395417G>T	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"""Parvins"""	14653	protein-coding gene	gene with protein product	"""affixin"""	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000406477.3:c.75G>T	22.37:g.44395417G>T	ENSP00000384515:p.Arg25Ser						p.R25S	NM_001003828	NP_001003828	Q9HBI1	PARVB_HUMAN			2	123	+		Ovarian(80;0.0246)|all_neural(38;0.0423)	Error:Variant_position_missing_in_Q9HBI1_after_alignment					B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Missense_Mutation	SNP	ENST00000406477.3	37	c.75G>T	CCDS46724.1	.	.	.	.	.	.	.	.	.	.	G	2.116	-0.402693	0.04865	.	.	ENSG00000188677	ENST00000406477	T	0.35605	1.3	2.14	-4.28	0.03732	.	25.083900	0.01037	U	0.004245	T	0.14356	0.0347	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21280	-1.0250	10	0.59425	D	0.04	.	3.7744	0.08654	0.4516:0.0:0.2949:0.2536	.	25	Q9HBI1-2	.	S	25	ENSP00000384515:R25S	ENSP00000384515:R25S	R	+	3	2	PARVB	42726750	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.841000	0.04359	-2.194000	0.00753	-0.275000	0.10095	AGG		0.498	PARVB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319517.1		NM_001003828		35	105	1	0	8.73648e-17	1	9.25007e-17	35	105		
TBC1D22A	25771	broad.mit.edu	37	22	47307990	47307990	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:47307990C>T	ENST00000337137.4	+	8	1087	c.921C>T	c.(919-921)ttC>ttT	p.F307F	TBC1D22A_ENST00000406733.1_Silent_p.F260F|TBC1D22A_ENST00000355704.3_Silent_p.F229F|TBC1D22A_ENST00000380995.1_Silent_p.F260F|TBC1D22A_ENST00000407381.3_Silent_p.F248F	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	307	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGATCTTGTTCATATGGGCGA	0.373																																						uc003bib.2		NaN																	0				ovary(1)	1						c.(919-921)TTC>TTT		TBC1 domain family, member 22A							174.0	155.0	162.0					22																	47307990		2203	4300	6503	SO:0001819	synonymous_variant	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47307990C>T	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.921C>T	22.37:g.47307990C>T						TBC1D22A_uc010haf.2_Silent_p.F277F|TBC1D22A_uc003bic.2_Silent_p.F248F|TBC1D22A_uc003bie.2_Silent_p.F229F|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Silent_p.F260F	p.F307F	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	8	1056	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	307			Rab-GAP TBC.		B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Silent	SNP	ENST00000337137.4	37	c.921C>T	CCDS14078.1																																																																																				0.373	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3		NM_014346		35	85	0	0	0	1	0	35	85		
ZBED4	9889	broad.mit.edu	37	22	50277808	50277808	+	Silent	SNP	G	G	A	rs141158718		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:50277808G>A	ENST00000216268.5	+	2	975	c.498G>A	c.(496-498)ccG>ccA	p.P166P		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	166						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCGCACACCCGACCGTGCTCA	0.557																																						uc003bix.2		NaN																	0				ovary(2)	2						c.(496-498)CCG>CCA		zinc finger, BED-type containing 4		G		1,4405	2.1+/-5.4	0,1,2202	81.0	69.0	73.0		498	-4.9	0.0	22	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZBED4	NM_014838.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		166/1172	50277808	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50277808G>A	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.498G>A	22.37:g.50277808G>A							p.P166P	NM_014838	NP_055653	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	968	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	166			BED-type 1.		B2RZH1|Q1ECU0|Q9UGG8	Silent	SNP	ENST00000216268.5	37	c.498G>A	CCDS33677.1																																																																																				0.557	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2		NM_014838		21	72	0	0	0	1	0	21	72		
DENND6B	414918	broad.mit.edu	37	22	50753332	50753332	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:50753332C>G	ENST00000413817.3	-	10	848	c.777G>C	c.(775-777)ctG>ctC	p.L259L	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	259					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										GCATATGAGTCAGCACAGGCC	0.672																																						uc011aru.1		NaN																	0					0						c.(775-777)CTG>CTC		family with sequence similarity 116, member B							27.0	34.0	31.0					22																	50753332		2084	4194	6278	SO:0001819	synonymous_variant	414918							g.chr22:50753332C>G	AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"""DENN/MADD domain containing"""	32690	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member B"""	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.777G>C	22.37:g.50753332C>G						FAM116B_uc011arv.1_Silent_p.L259L	p.L259L	NM_001001794	NP_001001794	Q8NEG7	F116B_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	11	849	-		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	259					A6X8I5	Silent	SNP	ENST00000413817.3	37	c.777G>C	CCDS46732.1	.	.	.	.	.	.	.	.	.	.	C	9.636	1.137688	0.21123	.	.	ENSG00000205593	ENST00000433760	.	.	.	5.01	2.89	0.33648	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.1019	8.3008	0.32012	0.0:0.7532:0.1581:0.0887	.	.	.	.	S	280	.	.	X	-	2	2	FAM116B	49095904	0.982000	0.34865	0.978000	0.43139	0.253000	0.25986	0.201000	0.17276	0.500000	0.27991	0.305000	0.20034	TGA		0.672	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3		NM_001001794		12	36	0	0	0	1	0	12	36		
ARSA	410	broad.mit.edu	37	22	51063878	51063878	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:51063878C>T	ENST00000547307.1	-	8	1624	c.1219G>A	c.(1219-1221)Gat>Aat	p.D407N	ARSA_ENST00000356098.5_Missense_Mutation_p.D409N|ARSA_ENST00000395621.3_Missense_Mutation_p.D409N|ARSA_ENST00000610191.1_5'Flank|ARSA_ENST00000395619.3_Missense_Mutation_p.D409N|ARSA_ENST00000453344.2_Missense_Mutation_p.D323N|ARSA_ENST00000216124.5_Missense_Mutation_p.D409N|ARSA_ENST00000547805.1_Missense_Mutation_p.D407N			P15289	ARSA_HUMAN	arylsulfatase A	407			Missing (in MLD; late-infantile-onset). {ECO:0000269|PubMed:9490297}.		autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	GCAGTGGTATCACTGTGGGCA	0.642																																						uc003bnb.3		NaN																	0				pancreas(1)|skin(1)	2						c.(1219-1221)GAT>AAT		arylsulfatase A isoform a precursor	Micafungin(DB01141)						40.0	50.0	47.0					22																	51063878		2198	4294	6492	SO:0001583	missense	410					lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity	g.chr22:51063878C>T	X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"""Arylsulfatase family"""	713	protein-coding gene	gene with protein product	"""metachromatic leucodystrophy"""	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.1219G>A	22.37:g.51063878C>T	ENSP00000448440:p.Asp407Asn					ARSA_uc003bna.3_Missense_Mutation_p.D323N|ARSA_uc003bnc.3_Missense_Mutation_p.D407N|ARSA_uc003bnd.3_Missense_Mutation_p.D407N|ARSA_uc003bmz.3_Missense_Mutation_p.D407N	p.D407N	NM_001085426	NP_001078895	P15289	ARSA_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	9	1472	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	407		Missing (in MLD; late-infantile-onset).			B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Missense_Mutation	SNP	ENST00000547307.1	37	c.1219G>A		.	.	.	.	.	.	.	.	.	.	C	11.84	1.759243	0.31137	.	.	ENSG00000100299	ENST00000356098;ENST00000216124;ENST00000547307;ENST00000547805;ENST00000395621;ENST00000453344;ENST00000395619	D;D;D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54;-2.54;-2.54	5.57	5.57	0.84162	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	1.388140	0.04179	N	0.326221	T	0.81074	0.4747	N	0.02539	-0.55	0.43667	D	0.99609	B	0.31817	0.341	B	0.34138	0.176	T	0.57957	-0.7721	10	0.30078	T	0.28	.	17.048	0.86510	0.0:1.0:0.0:0.0	.	407	P15289	ARSA_HUMAN	N	409;409;407;407;409;323;409	ENSP00000348406:D409N;ENSP00000216124:D409N;ENSP00000448440:D407N;ENSP00000448932:D407N;ENSP00000378983:D409N;ENSP00000412542:D323N;ENSP00000378981:D409N	ENSP00000216124:D409N	D	-	1	0	ARSA	49410744	0.034000	0.19679	0.956000	0.39512	0.125000	0.20455	2.823000	0.48081	2.636000	0.89361	0.467000	0.42956	GAT		0.642	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_000487		85	71	0	0	0	1	0	85	71		
CPNE9	151835	broad.mit.edu	37	3	9754751	9754751	+	Missense_Mutation	SNP	G	G	A	rs369110890		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:9754751G>A	ENST00000383832.3	+	10	828	c.638G>A	c.(637-639)gGa>gAa	p.G213E	CPNE9_ENST00000383831.3_Missense_Mutation_p.G213E	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	213	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CTGTGCAATGGAGACTATGAC	0.527																																						uc003bsd.2		NaN																	0				ovary(2)	2						c.(637-639)GGA>GAA		copine-like protein							33.0	33.0	33.0					3																	9754751		2096	4242	6338	SO:0001583	missense	151835							g.chr3:9754751G>A		CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.638G>A	3.37:g.9754751G>A	ENSP00000373343:p.Gly213Glu						p.G213E	NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN			9	809	+	Medulloblastoma(99;0.227)		213			C2 2.		A1L430|A6NDX6|A8MSP8	Missense_Mutation	SNP	ENST00000383832.3	37	c.638G>A	CCDS2574.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197456	0.79015	.	.	ENSG00000144550	ENST00000383832;ENST00000383831	T;T	0.66460	-0.21;-0.21	4.92	4.05	0.47172	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.069284	0.56097	N	0.000022	T	0.81158	0.4764	M	0.80746	2.51	0.53005	D	0.999965	D	0.71674	0.998	D	0.77557	0.99	D	0.83414	0.0029	10	0.87932	D	0	.	12.721	0.57142	0.081:0.0:0.919:0.0	.	213	Q8IYJ1	CPNE9_HUMAN	E	213	ENSP00000373343:G213E;ENSP00000373342:G213E	ENSP00000373342:G213E	G	+	2	0	CPNE9	9729751	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.845000	0.99498	1.084000	0.41184	0.313000	0.20887	GGA		0.527	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4		NM_001033755		11	33	0	0	0	1	0	11	33		
ARPC4	10093	broad.mit.edu	37	3	9843424	9843424	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:9843424G>A	ENST00000397261.3	+	4	878	c.314G>A	c.(313-315)cGa>cAa	p.R105Q	ARPC4_ENST00000433034.1_Missense_Mutation_p.R124Q|ARPC4_ENST00000498623.2_Missense_Mutation_p.R15Q|ARPC4_ENST00000287613.7_Missense_Mutation_p.R15Q|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.R105Q	NM_005718.4	NP_005709.1	P59998	ARPC4_HUMAN	actin related protein 2/3 complex, subunit 4, 20kDa	105					actin filament polymerization (GO:0030041)|actin nucleation (GO:0045010)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|lung(1)	2	Medulloblastoma(99;0.227)					TTTATCCTTCGAAGGAAGCCT	0.498																																						uc003btd.3		NaN																	0				large_intestine(2)	2						c.(31-33)CGA>CAA		RecName: Full=Tubulin--tyrosine ligase-like protein 3; AltName: Full=HOTTL;							75.0	71.0	73.0					3																	9843424		1968	4155	6123	SO:0001583	missense	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9843424G>A	AF019888	CCDS43047.1, CCDS46743.1, CCDS56238.1	3p25	2011-07-06	2002-08-29		ENSG00000241553	ENSG00000241553		"""Actin related protein 2/3 complex subunits"""	707	protein-coding gene	gene with protein product	"""Arp2/3 protein complex subunit p20"", ""actin related protein 2/3 complex, subunit 4 (20 kD)"""	604226	"""actin related protein 2/3 complex, subunit 4 (20 kD)"""			9230079, 9359840	Standard	NM_005718		Approved	p20-Arc, ARC20		P59998	OTTHUMG00000133768	ENST00000397261.3:c.314G>A	3.37:g.9843424G>A	ENSP00000380431:p.Arg105Gln					ARPC4_uc003bsz.1_Missense_Mutation_p.R105Q|ARPC4_uc003bta.1_Missense_Mutation_p.R15Q|ARPC4_uc003btb.1_Missense_Mutation_p.R15Q|ARPC4_uc003btc.1_Intron	p.R11Q			Q9Y4R7	TTLL3_HUMAN			3	311	+	Medulloblastoma(99;0.227)		11					C9JWM7|E7ETI0|F6TTL5|O15509|Q6P0W5|Q96QJ3	Missense_Mutation	SNP	ENST00000397261.3	37	c.32G>A	CCDS43047.1	.	.	.	.	.	.	.	.	.	.	G	33	5.253564	0.95336	.	.	ENSG00000241553;ENSG00000241553;ENSG00000241553;ENSG00000241553;ENSG00000250151	ENST00000498623;ENST00000287613;ENST00000397261;ENST00000433034;ENST00000397256	T	0.11063	2.81	6.05	4.19	0.49359	.	.	.	.	.	T	0.47358	0.1441	H	0.95679	3.705	0.23589	N	0.997346	D	0.89917	1.0	D	0.91635	0.999	T	0.55121	-0.8190	9	0.87932	D	0	-0.0863	16.7193	0.85406	0.0:0.2429:0.7571:0.0	.	105	P59998	ARPC4_HUMAN	Q	15;15;105;124;105	ENSP00000380427:R105Q	ENSP00000287613:R15Q	R	+	2	0	ARPC4-TTLL3;ARPC4	9818424	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.606000	0.98325	1.554000	0.49487	0.643000	0.83706	CGA		0.498	ARPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258275.2		NM_001024959		3	20	0	0	0	1	0	3	20		
PRRT3	285368	broad.mit.edu	37	3	9988025	9988025	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:9988025C>T	ENST00000412055.1	-	4	2961	c.2832G>A	c.(2830-2832)ccG>ccA	p.P944P	PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	944						integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						GGGCTGGGGTCGGGGCAGGCA	0.662																																						uc003bul.2		NaN																	0					0						c.(2830-2832)CCG>CCA		proline-rich transmembrane protein 3 precursor							17.0	22.0	20.0					3																	9988025		1940	4131	6071	SO:0001819	synonymous_variant	285368					integral to membrane		g.chr3:9988025C>T	AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"""Proline-rich transmembrane proteins"""	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.2832G>A	3.37:g.9988025C>T						CIDEC_uc003bto.2_Intron|PRRT3_uc003buk.2_RNA	p.P944P	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN			4	2962	-			944			Cytoplasmic (Potential).		Q49AD0|Q6UXY6|Q8NBC9	Silent	SNP	ENST00000412055.1	37	c.2832G>A	CCDS43049.1																																																																																				0.662	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1		NM_207351		20	49	0	0	0	1	0	20	49		
ATP2B2	491	broad.mit.edu	37	3	10382201	10382201	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:10382201G>A	ENST00000352432.4	-	19	3174	c.3105C>T	c.(3103-3105)atC>atT	p.I1035I	ATP2B2_ENST00000360273.2_Silent_p.I1035I|ATP2B2_ENST00000343816.4_Silent_p.I1021I|ATP2B2_ENST00000397077.1_Silent_p.I990I|ATP2B2_ENST00000383800.4_Silent_p.I990I			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1035					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGCCCAGCACGATGGTGCAGA	0.627																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3103-3105)ATC>ATT		plasma membrane calcium ATPase 2 isoform 1							139.0	119.0	126.0					3																	10382201		2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10382201G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.3105C>T	3.37:g.10382201G>A						ATP2B2_uc003bvv.2_Silent_p.I990I|ATP2B2_uc003bvw.2_Silent_p.I990I|ATP2B2_uc010hdo.2_Silent_p.I740I	p.I1035I	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			20	3544	-			1035			Helical; (Potential).		O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.3105C>T	CCDS33701.1																																																																																				0.627	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2		NM_001683		41	116	0	0	0	1	0	41	116		
SLC6A1	6529	broad.mit.edu	37	3	11058933	11058933	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:11058933G>T	ENST00000287766.4	+	3	457	c.36G>T	c.(34-36)caG>caT	p.Q12H	SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_5'UTR|SLC6A1_ENST00000462473.1_3'UTR	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	12					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	CCGACGGGCAGATCTCCACCG	0.642																																						uc010hdq.2		NaN																	0				ovary(1)|skin(1)	2						c.(34-36)CAG>CAT		solute carrier family 6 (neurotransmitter	Cocaine(DB00907)|Tiagabine(DB00906)						52.0	50.0	51.0					3																	11058933		2203	4300	6503	SO:0001583	missense	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11058933G>T		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.36G>T	3.37:g.11058933G>T	ENSP00000287766:p.Gln12His						p.Q12H	NM_003042	NP_003033	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	3	447	+		Ovarian(110;0.0392)	12			Cytoplasmic (Potential).		Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	37	c.36G>T	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822598	0.32237	.	.	ENSG00000157103	ENST00000287766;ENST00000425938	T	0.73897	-0.79	4.37	4.37	0.52481	.	0.207411	0.35466	N	0.003186	T	0.52741	0.1753	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.51060	-0.8753	10	0.37606	T	0.19	.	10.2978	0.43635	0.0921:0.0:0.9079:0.0	.	12	P30531	SC6A1_HUMAN	H	12	ENSP00000287766:Q12H	ENSP00000287766:Q12H	Q	+	3	2	SLC6A1	11033933	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.751000	0.26348	2.414000	0.81942	0.462000	0.41574	CAG		0.642	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2		NM_003042		23	68	1	0	5.35356e-11	1	5.5948e-11	23	68		
NUP210	23225	broad.mit.edu	37	3	13383323	13383323	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:13383323G>A	ENST00000254508.5	-	23	3235	c.3153C>T	c.(3151-3153)atC>atT	p.I1051I	NUP210_ENST00000485755.1_5'Flank	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1051					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)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGGTCTGGCCGATGGCCACAC	0.522																																						uc003bxv.1		NaN																	0				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(3151-3153)ATC>ATT		nucleoporin 210 precursor							145.0	121.0	129.0					3																	13383323		2203	4300	6503	SO:0001819	synonymous_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13383323G>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3153C>T	3.37:g.13383323G>A							p.I1051I	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			23	3236	-	all_neural(104;0.187)		1051			Lumenal (Probable).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	c.3153C>T	CCDS33704.1																																																																																				0.522	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1		NM_024923		14	50	0	0	0	1	0	14	50		
ZNF385D	79750	broad.mit.edu	37	3	21462822	21462822	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:21462822G>A	ENST00000281523.2	-	8	1590	c.1072C>T	c.(1072-1074)Cga>Tga	p.R358*		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	358						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R358*(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGAGCAGTTCGAAGACTGAAG	0.582																																						uc003cce.2		NaN																	1	Substitution - Nonsense(1)		NS(1)	large_intestine(2)|skin(2)|ovary(1)	5						c.(1072-1074)CGA>TGA		zinc finger protein 385D							55.0	55.0	55.0					3																	21462822		2203	4300	6503	SO:0001587	stop_gained	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21462822G>A	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.1072C>T	3.37:g.21462822G>A	ENSP00000281523:p.Arg358*						p.R358*	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN			8	1480	-			358						Nonsense_Mutation	SNP	ENST00000281523.2	37	c.1072C>T	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	40	7.978408	0.98591	.	.	ENSG00000151789	ENST00000281523	.	.	.	6.08	4.2	0.49525	.	0.278704	0.34750	N	0.003714	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.8283	15.4904	0.75602	0.0:0.0:0.7474:0.2525	.	.	.	.	X	358	.	ENSP00000281523:R358X	R	-	1	2	ZNF385D	21437826	0.989000	0.36119	0.143000	0.22291	0.990000	0.78478	1.994000	0.40757	1.537000	0.49254	0.650000	0.86243	CGA		0.582	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1		NM_024697		16	30	0	0	0	1	0	16	30		
RARB	5915	broad.mit.edu	37	3	25611305	25611305	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:25611305G>A	ENST00000404969.1	+	4	526	c.526G>A	c.(526-528)Gag>Aag	p.E176K	RARB_ENST00000458646.1_Missense_Mutation_p.E57K|RARB_ENST00000330688.4_Missense_Mutation_p.E169K|RARB_ENST00000437042.2_Missense_Mutation_p.E57K|RARB_ENST00000462272.1_3'UTR			P10826	RARB_HUMAN	retinoic acid receptor, beta	176	Hinge.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGAATGCACAGAGAGCTATGA	0.488																																						uc011awl.1		NaN																	0				ovary(1)|large_intestine(1)|pancreas(1)	3						c.(526-528)GAG>AAG		retinoic acid receptor, beta isoform 2	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)						127.0	121.0	123.0					3																	25611305		2203	4300	6503	SO:0001583	missense	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25611305G>A	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.526G>A	3.37:g.25611305G>A	ENSP00000385865:p.Glu176Lys					RARB_uc003cdi.1_Missense_Mutation_p.E57K|RARB_uc003cdh.2_Missense_Mutation_p.E169K	p.E176K	NM_016152	NP_057236	P10826	RARB_HUMAN			4	592	+			176			Hinge.		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37	c.526G>A		.	.	.	.	.	.	.	.	.	.	G	25.5	4.646326	0.87958	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	D;D;D;D;D	0.92647	-2.86;-3.08;-3.08;-3.04;-3.08	4.57	4.57	0.56435	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.94437	0.8210	M	0.85945	2.785	0.80722	D	1	P;P	0.37663	0.604;0.594	P;P	0.45794	0.489;0.493	D	0.94417	0.7637	10	0.44086	T	0.13	.	17.8958	0.88887	0.0:0.0:1.0:0.0	.	176;169	P10826;F1D8S6	RARB_HUMAN;.	K	176;176;176;57;169;57	ENSP00000373282:E176K;ENSP00000385865:E176K;ENSP00000398840:E57K;ENSP00000332296:E169K;ENSP00000391391:E57K	ENSP00000332296:E169K	E	+	1	0	RARB	25586309	1.000000	0.71417	0.968000	0.41197	0.963000	0.63663	9.428000	0.97476	2.530000	0.85305	0.561000	0.74099	GAG		0.488	RARB-201	KNOWN	basic	protein_coding	protein_coding			NM_000965, NM_016152		29	89	0	0	0	1	0	29	89		
NGLY1	55768	broad.mit.edu	37	3	25773930	25773930	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:25773930C>T	ENST00000280700.5	-	9	1465	c.1305G>A	c.(1303-1305)caG>caA	p.Q435Q	NGLY1_ENST00000467224.1_Intron|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000428257.1_Silent_p.Q417Q|NGLY1_ENST00000396649.3_Silent_p.Q435Q|NGLY1_ENST00000417874.2_Silent_p.Q393Q	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	435					glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CAATTATCCTCTGGAGAAGTT	0.398																																						uc003cdl.2		NaN																	0				breast(1)	1						c.(1303-1305)CAG>CAA		N-glycanase 1 isoform 1							86.0	85.0	85.0					3																	25773930		2203	4300	6503	SO:0001819	synonymous_variant	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25773930C>T	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1305G>A	3.37:g.25773930C>T						NGLY1_uc010hfg.2_Silent_p.Q417Q|NGLY1_uc003cdm.2_Silent_p.Q435Q|NGLY1_uc011awo.1_Silent_p.Q393Q|NGLY1_uc003cdk.2_RNA	p.Q435Q	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN			9	1413	-			435					B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Silent	SNP	ENST00000280700.5	37	c.1305G>A	CCDS33719.1																																																																																				0.398	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2				20	48	0	0	0	1	0	20	48		
GADL1	339896	broad.mit.edu	37	3	30880497	30880497	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:30880497G>A	ENST00000282538.5	-	9	1045	c.895C>T	c.(895-897)Cat>Tat	p.H299Y	GADL1_ENST00000454381.3_Missense_Mutation_p.H299Y	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	299					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						ACATCTACATGAAGCCAGAGG	0.418																																						uc003cep.2		NaN																	0					0						c.(895-897)CAT>TAT		glutamate decarboxylase-like 1	Pyridoxal Phosphate(DB00114)						77.0	73.0	74.0					3																	30880497		2203	4300	6503	SO:0001583	missense	339896				carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	g.chr3:30880497G>A	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.895C>T	3.37:g.30880497G>A	ENSP00000282538:p.His299Tyr					GADL1_uc003ceq.1_Missense_Mutation_p.H299Y	p.H299Y	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN			9	942	-			299						Missense_Mutation	SNP	ENST00000282538.5	37	c.895C>T	CCDS2649.2	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934004	0.92458	.	.	ENSG00000144644	ENST00000282538;ENST00000454381	T;T	0.71103	-0.54;-0.54	6.08	6.08	0.98989	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.103365	0.64402	D	0.000005	D	0.90400	0.6995	H	0.96970	3.915	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.92463	0.5979	10	0.87932	D	0	-19.7598	20.6647	0.99678	0.0:0.0:1.0:0.0	.	299	Q6ZQY3	GADL1_HUMAN	Y	299	ENSP00000282538:H299Y;ENSP00000427059:H299Y	ENSP00000282538:H299Y	H	-	1	0	GADL1	30855501	1.000000	0.71417	0.999000	0.59377	0.919000	0.55068	9.476000	0.97823	2.890000	0.99128	0.655000	0.94253	CAT		0.418	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2		NM_207359		4	65	0	0	0	1	0	4	65		
CCR4	1233	broad.mit.edu	37	3	32995455	32995455	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:32995455G>A	ENST00000330953.5	+	2	709	c.541G>A	c.(541-543)Gag>Aag	p.E181K		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	181					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TTGTTATACTGAGCGCAACCA	0.507																																						uc003cfg.1		NaN																	0				lung(1)	1						c.(541-543)GAG>AAG		chemokine (C-C motif) receptor 4							143.0	127.0	132.0					3																	32995455		2203	4300	6503	SO:0001583	missense	1233				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		g.chr3:32995455G>A	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.541G>A	3.37:g.32995455G>A	ENSP00000332659:p.Glu181Lys						p.E181K	NM_005508	NP_005499	P51679	CCR4_HUMAN			2	709	+			181			Extracellular (Potential).		Q9ULY6|Q9ULY7	Missense_Mutation	SNP	ENST00000330953.5	37	c.541G>A	CCDS2656.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221413	0.79464	.	.	ENSG00000183813	ENST00000330953	T	0.40225	1.04	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.53722	0.1814	L	0.53249	1.67	0.49483	D	0.999795	P	0.49185	0.92	P	0.50860	0.652	T	0.52593	-0.8555	9	0.66056	D	0.02	.	19.9882	0.97356	0.0:0.0:1.0:0.0	.	181	P51679	CCR4_HUMAN	K	181	ENSP00000332659:E181K	ENSP00000332659:E181K	E	+	1	0	CCR4	32970459	1.000000	0.71417	0.967000	0.41034	0.534000	0.34807	5.263000	0.65507	2.824000	0.97209	0.655000	0.94253	GAG		0.507	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2				28	92	0	0	0	1	0	28	92		
STAC	6769	broad.mit.edu	37	3	36587730	36587730	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:36587730C>T	ENST00000273183.3	+	11	1458	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	STAC_ENST00000457375.2_Silent_p.L325L	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	386					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						TCAGAGTCCTCAGTGGAAAAA	0.438																																						uc003cgh.1		NaN																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(1156-1158)CTC>CTT		SH3 and cysteine rich domain							151.0	134.0	140.0					3																	36587730		2203	4300	6503	SO:0001819	synonymous_variant	6769				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	g.chr3:36587730C>T	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.1158C>T	3.37:g.36587730C>T						STAC_uc011aya.1_Silent_p.L325L	p.L386L	NM_003149	NP_003140	Q99469	STAC_HUMAN			11	1197	+			386					B2R8S8	Silent	SNP	ENST00000273183.3	37	c.1158C>T	CCDS2662.1																																																																																				0.438	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2		NM_003149		29	88	0	0	0	1	0	29	88		
TRANK1	9881	broad.mit.edu	37	3	36897001	36897001	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:36897001C>A	ENST00000429976.2	-	12	4327	c.4080G>T	c.(4078-4080)caG>caT	p.Q1360H	TRANK1_ENST00000428977.2_Missense_Mutation_p.Q810H|TRANK1_ENST00000301807.6_Missense_Mutation_p.Q810H	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1360							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			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						AATAACCTTTCTGGGACCTGA	0.473																																						uc003cgj.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2428-2430)CAG>CAT		lupus brain antigen 1							96.0	98.0	97.0					3																	36897001		1945	4134	6079	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36897001C>A	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.4080G>T	3.37:g.36897001C>A	ENSP00000416168:p.Gln1360His						p.Q810H	NM_014831	NP_055646	O15050	TRNK1_HUMAN			3	2732	-			1360					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.2430G>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574197	0.28092	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	D;D;D	0.82619	-1.63;-1.63;-1.63	5.46	4.58	0.56647	.	0.111124	0.40640	N	0.001045	T	0.71896	0.3394	L	0.28400	0.85	0.41890	D	0.990364	B	0.19331	0.035	B	0.20384	0.029	T	0.67452	-0.5667	10	0.44086	T	0.13	.	7.3821	0.26862	0.0:0.7159:0.1423:0.1418	.	1360	O15050	TRNK1_HUMAN	H	810;1360;810	ENSP00000416826:Q810H;ENSP00000416168:Q1360H;ENSP00000301807:Q810H	ENSP00000301807:Q810H	Q	-	3	2	TRANK1	36872005	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.036000	0.41165	1.434000	0.47414	0.561000	0.74099	CAG		0.473	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_014831		51	131	1	0	1.39193e-11	1	1.45645e-11	51	131		
TRANK1	9881	broad.mit.edu	37	3	36897398	36897398	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:36897398C>G	ENST00000429976.2	-	12	3930	c.3683G>C	c.(3682-3684)aGa>aCa	p.R1228T	TRANK1_ENST00000428977.2_Missense_Mutation_p.R678T|TRANK1_ENST00000301807.6_Missense_Mutation_p.R678T	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1228							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			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						TATGATGGTTCTTTTCAAGCT	0.468																																						uc003cgj.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2032-2034)AGA>ACA		lupus brain antigen 1							123.0	125.0	125.0					3																	36897398		1987	4161	6148	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36897398C>G	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.3683G>C	3.37:g.36897398C>G	ENSP00000416168:p.Arg1228Thr						p.R678T	NM_014831	NP_055646	O15050	TRNK1_HUMAN			3	2335	-			1228					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.2033G>C	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738121	0.49045	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	D;D;D	0.82167	-1.58;-1.58;-1.58	5.36	4.47	0.54385	.	0.000000	0.64402	D	0.000003	D	0.85410	0.5690	L	0.59436	1.845	0.34683	D	0.72496	D	0.59357	0.985	P	0.54759	0.76	D	0.89313	0.3634	10	0.54805	T	0.06	.	12.6088	0.56540	0.0:0.8677:0.0:0.1323	.	1228	O15050	TRNK1_HUMAN	T	678;1228;678	ENSP00000416826:R678T;ENSP00000416168:R1228T;ENSP00000301807:R678T	ENSP00000301807:R678T	R	-	2	0	TRANK1	36872402	0.982000	0.34865	0.998000	0.56505	0.911000	0.54048	2.399000	0.44495	2.688000	0.91661	0.561000	0.74099	AGA		0.468	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_014831		52	101	0	0	0	1	0	52	101		
LRRFIP2	9209	broad.mit.edu	37	3	37107346	37107346	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:37107346G>C	ENST00000336686.4	-	23	1734	c.1654C>G	c.(1654-1656)Cag>Gag	p.Q552E	LRRFIP2_ENST00000421276.2_Missense_Mutation_p.Q255E|MLH1_ENST00000536378.1_3'UTR|LRRFIP2_ENST00000354379.4_Missense_Mutation_p.Q231E|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.Q334E|LRRFIP2_ENST00000421307.1_Missense_Mutation_p.Q552E|LRRFIP2_ENST00000440230.1_Missense_Mutation_p.Q255E			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	552					Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GCAGCTTCCTGAGACACAACA	0.483																																						uc003cgp.2		NaN																	1	Whole gene deletion(1)		ovary(1)	ovary(1)	1						c.(1654-1656)CAG>GAG		leucine rich repeat (in FLII) interacting							99.0	97.0	98.0					3																	37107346		2203	4300	6503	SO:0001583	missense	9209				Wnt receptor signaling pathway		LRR domain binding	g.chr3:37107346G>C	AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.1654C>G	3.37:g.37107346G>C	ENSP00000338727:p.Gln552Glu					MLH1_uc011aye.1_3'UTR|LRRFIP2_uc011ayf.1_Missense_Mutation_p.Q334E|LRRFIP2_uc003cgr.2_Missense_Mutation_p.Q255E|LRRFIP2_uc003cgs.3_Missense_Mutation_p.Q255E|LRRFIP2_uc003cgt.3_Missense_Mutation_p.Q231E	p.Q552E	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN			24	2077	-			552					A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Missense_Mutation	SNP	ENST00000336686.4	37	c.1654C>G	CCDS2664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.144042|4.144042	0.77888|0.77888	.|.	.|.	ENSG00000093167|ENSG00000093167	ENST00000421307;ENST00000354379;ENST00000336686;ENST00000421276;ENST00000396428;ENST00000440230|ENST00000440742	T;T;T;T;T;T|.	0.41758|.	0.99;0.99;0.99;0.99;0.99;0.99|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.79563|.	0.4467|.	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.51240|.	0.764;0.7;0.745;0.943|.	P;B;P;D|.	0.64877|.	0.72;0.281;0.561;0.93|.	T|.	0.79293|.	-0.1863|.	10|.	0.33141|0.72032	T|D	0.24|0.01	-6.844|-6.844	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	334;231;255;552|.	A8MXR0;Q9Y608-2;Q9Y608-4;Q9Y608|.	.;.;.;LRRF2_HUMAN|.	E|X	552;231;552;255;334;255|133	ENSP00000392217:Q552E;ENSP00000346349:Q231E;ENSP00000338727:Q552E;ENSP00000416364:Q255E;ENSP00000379705:Q334E;ENSP00000405480:Q255E|.	ENSP00000338727:Q552E|ENSP00000413026:S133X	Q|S	-|-	1|2	0|0	LRRFIP2|LRRFIP2	37082350|37082350	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.240000|9.240000	0.95396|0.95396	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.483	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3		NM_006309		27	84	0	0	0	1	0	27	84		
DLEC1	9940	broad.mit.edu	37	3	38158112	38158112	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:38158112C>T	ENST00000308059.6	+	28	4046	c.4025C>T	c.(4024-4026)tCc>tTc	p.S1342F	DLEC1_ENST00000346219.3_Missense_Mutation_p.S1342F|DLEC1_ENST00000452631.2_Missense_Mutation_p.S1345F					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCAGGCCCCTCCAGTTCATCG	0.627																																						uc003cho.1		NaN																	0				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(4024-4026)TCC>TTC		deleted in lung and esophageal cancer 1 isoform							64.0	64.0	64.0					3																	38158112		1952	4130	6082	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38158112C>T	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.4025C>T	3.37:g.38158112C>T	ENSP00000308597:p.Ser1342Phe					DLEC1_uc003chp.1_Missense_Mutation_p.S1342F|DLEC1_uc010hgv.1_Missense_Mutation_p.S1345F|DLEC1_uc003chr.1_Missense_Mutation_p.S413F|DLEC1_uc010hgx.1_RNA|DLEC1_uc003chs.1_5'Flank	p.S1342F	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	28	4046	+			1342						Missense_Mutation	SNP	ENST00000308059.6	37	c.4025C>T	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486465	0.63962	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.06687	3.29;3.27;3.51	5.08	3.1	0.35709	.	0.913809	0.09408	N	0.806273	T	0.21761	0.0524	M	0.67953	2.075	0.20403	N	0.999901	D;D;B;D	0.64830	0.994;0.991;0.429;0.994	P;D;B;P	0.63877	0.864;0.919;0.167;0.864	T	0.09930	-1.0652	10	0.54805	T	0.06	-23.2329	6.621	0.22802	0.0:0.7177:0.1821:0.1002	.	1345;1342;1342;1342	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	F	1342;1342;1345	ENSP00000308597:S1342F;ENSP00000315914:S1342F;ENSP00000410427:S1345F	ENSP00000308597:S1342F	S	+	2	0	DLEC1	38133116	0.089000	0.21612	0.752000	0.31206	0.255000	0.26057	0.329000	0.19698	2.357000	0.79964	0.462000	0.41574	TCC		0.627	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3		NM_007337		35	99	0	0	0	1	0	35	99		
ACAA1	30	broad.mit.edu	37	3	38168124	38168124	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:38168124C>T	ENST00000333167.8	-	8	866	c.694G>A	c.(694-696)Gat>Aat	p.D232N	ACAA1_ENST00000450296.1_Missense_Mutation_p.D191N|Y_RNA_ENST00000365095.1_RNA|ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000444607.2_3'UTR|ACAA1_ENST00000544624.1_Missense_Mutation_p.D80N|ACAA1_ENST00000301810.7_Missense_Mutation_p.D199N	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	232					alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CCCTTGTCATCATGGACCGTG	0.592																																						uc003cht.2		NaN																	0				ovary(1)	1						c.(694-696)GAT>AAT		acetyl-Coenzyme A acyltransferase 1 isoform a							183.0	146.0	159.0					3																	38168124		2203	4300	6503	SO:0001583	missense	30				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding	g.chr3:38168124C>T	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087	ENST00000333167.8:c.694G>A	3.37:g.38168124C>T	ENSP00000333664:p.Asp232Asn					ACAA1_uc003chu.2_Missense_Mutation_p.D199N|ACAA1_uc010hgy.2_Missense_Mutation_p.D191N|ACAA1_uc010hgz.2_Missense_Mutation_p.D232N|ACAA1_uc003chv.2_Missense_Mutation_p.D80N	p.D232N	NM_001607	NP_001598	P09110	THIK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)	8	901	-			232					G5E935|Q96CA6	Missense_Mutation	SNP	ENST00000333167.8	37	c.694G>A	CCDS2673.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.53|17.53	3.413693|3.413693	0.62511|0.62511	.|.	.|.	ENSG00000060971|ENSG00000060971	ENST00000333167;ENST00000301810;ENST00000450296;ENST00000358122;ENST00000544624|ENST00000452171;ENST00000421218	D;D;D;D|.	0.94758|.	-3.36;-3.26;-3.51;-3.51|.	5.46|5.46	3.65|3.65	0.41850|0.41850	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);|.	0.150694|.	0.56097|.	N|.	0.000024|.	T|T	0.68192|0.68192	0.2974|0.2974	M|M	0.63208|0.63208	1.945|1.945	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.18610|.	0.006;0.029;0.028;0.015|.	B;B;B;B|.	0.30782|.	0.012;0.12;0.042;0.041|.	T|T	0.65170|0.65170	-0.6233|-0.6233	10|5	0.44086|.	T|.	0.13|.	-13.6424|-13.6424	12.401|12.401	0.55412|0.55412	0.0:0.8612:0.0:0.1388|0.0:0.8612:0.0:0.1388	.|.	164;191;199;232|.	F5GXL8;C9JDE9;G5E935;P09110|.	.;.;.;THIK_HUMAN|.	N|I	232;199;191;164;80|104;121	ENSP00000333664:D232N;ENSP00000301810:D199N;ENSP00000395183:D191N;ENSP00000445710:D80N|.	ENSP00000301810:D199N|.	D|M	-|-	1|3	0|0	ACAA1|ACAA1	38143128|38143128	0.998000|0.998000	0.40836|0.40836	0.244000|0.244000	0.24202|0.24202	0.895000|0.895000	0.52256|0.52256	3.962000|3.962000	0.56766|0.56766	0.652000|0.652000	0.30806|0.30806	0.655000|0.655000	0.94253|0.94253	GAT|ATG		0.592	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1		NM_001607		30	93	0	0	0	1	0	30	93		
XYLB	9942	broad.mit.edu	37	3	38404477	38404477	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:38404477C>T	ENST00000207870.3	+	4	350	c.260C>T	c.(259-261)tCt>tTt	p.S87F	XYLB_ENST00000542835.1_Intron	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	87					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		TTCGACTTCTCTCAAGTCCTA	0.522																																						uc003cic.2		NaN																	0				ovary(1)	1						c.(259-261)TCT>TTT		xylulokinase							115.0	115.0	115.0					3																	38404477		2203	4300	6503	SO:0001583	missense	9942				D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity	g.chr3:38404477C>T	AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.260C>T	3.37:g.38404477C>T	ENSP00000207870:p.Ser87Phe					XYLB_uc011ayp.1_Intron|XYLB_uc003cid.1_Missense_Mutation_p.S9F	p.S87F	NM_005108	NP_005099	O75191	XYLB_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)	4	369	+			87					B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	ENST00000207870.3	37	c.260C>T	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898217	0.72639	.	.	ENSG00000093217	ENST00000207870	T	0.50277	0.75	5.14	5.14	0.70334	Carbohydrate kinase, FGGY, N-terminal (1);	0.159728	0.64402	D	0.000019	T	0.69504	0.3118	M	0.87038	2.855	0.80722	D	1	P	0.46142	0.873	P	0.61800	0.894	T	0.73754	-0.3883	10	0.66056	D	0.02	.	12.2378	0.54526	0.0:0.8283:0.1717:0.0	.	87	O75191	XYLB_HUMAN	F	87	ENSP00000207870:S87F	ENSP00000207870:S87F	S	+	2	0	XYLB	38379481	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.563000	0.60823	2.554000	0.86153	0.455000	0.32223	TCT		0.522	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2		NM_005108		20	90	0	0	0	1	0	20	90		
ZNF619	285267	broad.mit.edu	37	3	40529228	40529228	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:40529228C>T	ENST00000314686.5	+	6	1584	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	ZNF619_ENST00000447116.2_Silent_p.F449F|ZNF619_ENST00000522736.1_Silent_p.F400F|ZNF619_ENST00000429348.2_Silent_p.F409F|ZNF619_ENST00000432264.2_Silent_p.F409F|ZNF619_ENST00000521353.1_Silent_p.F449F|ZNF619_ENST00000456778.1_Silent_p.F365F|ZNF619_ENST00000520737.1_3'UTR			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGAAAACTTTCAGCTGTAGCT	0.468																																						uc011azb.1		NaN																	0				ovary(1)	1						c.(1345-1347)TTC>TTT		zinc finger protein 619 isoform 1							72.0	76.0	75.0					3																	40529228		2203	4300	6503	SO:0001819	synonymous_variant	285267				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:40529228C>T	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1179C>T	3.37:g.40529228C>T						ZNF619_uc010hhz.2_Silent_p.F400F|ZNF619_uc003ckj.2_Silent_p.F393F|ZNF619_uc011azc.1_Silent_p.F409F|ZNF619_uc011azd.1_Silent_p.F365F|ZNF619_uc011aza.1_Silent_p.F351F	p.F449F	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	6	1625	+			449					B4E271|C9JRN5|D4PHA2|E9PCD9	Silent	SNP	ENST00000314686.5	37	c.1347C>T																																																																																					0.468	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2		NM_173656		21	79	0	0	0	1	0	21	79		
TCAIM	285343	broad.mit.edu	37	3	44442825	44442825	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:44442825G>C	ENST00000342649.4	+	10	1676	c.1249G>C	c.(1249-1251)Gag>Cag	p.E417Q	TCAIM_ENST00000417237.1_Splice_Site_p.E417Q	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	417						mitochondrion (GO:0005739)											AAGAAAGGAAGAGTAAGTACT	0.398																																						uc010him.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1249-1251)GAG>CAG		hypothetical protein LOC285343 isoform 1							94.0	87.0	89.0					3																	44442825		2203	4300	6503	SO:0001630	splice_region_variant	285343					mitochondrion		g.chr3:44442825G>C		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.1250+1G>C	3.37:g.44442825G>C						C3orf23_uc003cnd.3_Missense_Mutation_p.E417Q|C3orf23_uc003cne.3_Missense_Mutation_p.E273Q	p.E417Q	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	10	1494	+			417			Potential.		A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Missense_Mutation	SNP	ENST00000342649.4	37	c.1249G>C	CCDS2712.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.673754	0.29693	.	.	ENSG00000179152	ENST00000417237;ENST00000342649	T;T	0.45276	0.9;0.9	5.6	3.75	0.43078	.	0.287341	0.39475	N	0.001344	T	0.31231	0.0790	L	0.35723	1.085	0.37311	D	0.909112	B	0.15473	0.013	B	0.12156	0.007	T	0.14587	-1.0467	10	0.28530	T	0.3	.	10.3335	0.43837	0.0739:0.1365:0.7896:0.0	.	417	Q8N3R3	CC023_HUMAN	Q	417	ENSP00000402581:E417Q;ENSP00000341539:E417Q	ENSP00000341539:E417Q	E	+	1	0	C3orf23	44417829	1.000000	0.71417	0.865000	0.33974	0.916000	0.54674	3.106000	0.50322	0.679000	0.31345	0.555000	0.69702	GAG		0.398	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2		NM_173826	Missense_Mutation	19	55	0	0	0	1	0	19	55		
CDCP1	64866	broad.mit.edu	37	3	45153662	45153662	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:45153662C>G	ENST00000296129.1	-	3	702	c.568G>C	c.(568-570)Gaa>Caa	p.E190Q	CDCP1_ENST00000425231.2_Missense_Mutation_p.E190Q|CDCP1_ENST00000490471.1_5'Flank	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	190						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TTCACTCCTTCTTGCATCTTG	0.537																																						uc003com.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(568-570)GAA>CAA		CUB domain-containing protein 1 isoform 1							167.0	158.0	161.0					3																	45153662		2203	4300	6503	SO:0001583	missense	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45153662C>G	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.568G>C	3.37:g.45153662C>G	ENSP00000296129:p.Glu190Gln					CDCP1_uc003con.2_Missense_Mutation_p.E190Q	p.E190Q	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	3	703	-			190			Extracellular (Potential).		Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	c.568G>C	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424446	0.62733	.	.	ENSG00000163814	ENST00000296129;ENST00000425231	T;T	0.42513	1.91;0.97	5.42	5.42	0.78866	.	0.354964	0.31673	N	0.007251	T	0.54175	0.1842	L	0.57536	1.79	0.31308	N	0.68744	D;D	0.65815	0.995;0.986	P;P	0.54174	0.744;0.744	T	0.56092	-0.8036	10	0.29301	T	0.29	.	19.2129	0.93765	0.0:1.0:0.0:0.0	.	190;190	Q9H5V8-3;Q9H5V8	.;CDCP1_HUMAN	Q	190	ENSP00000296129:E190Q;ENSP00000399342:E190Q	ENSP00000296129:E190Q	E	-	1	0	CDCP1	45128666	1.000000	0.71417	0.988000	0.46212	0.359000	0.29487	4.116000	0.57871	2.537000	0.85549	0.563000	0.77884	GAA		0.537	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3		NM_022842		41	104	0	0	0	1	0	41	104		
CCR2	729230	broad.mit.edu	37	3	46399402	46399402	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:46399402C>T	ENST00000400888.2	+	1	423	c.384C>T	c.(382-384)atC>atT	p.I128I	CCR2_ENST00000445132.2_Silent_p.I128I|CCR2_ENST00000292301.4_Silent_p.I128I|CCR2_ENST00000465202.1_Intron			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	128					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TTGGCGGAATCTTCTTCATCA	0.468																																						uc003cpn.3		NaN																	0				lung(1)|breast(1)	2						c.(382-384)ATC>ATT		chemokine (C-C motif) receptor 2 isoform A							426.0	383.0	396.0					3																	46399402		1568	3582	5150	SO:0001819	synonymous_variant	729230				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	g.chr3:46399402C>T		CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.384C>T	3.37:g.46399402C>T						CCR2_uc003cpm.3_Silent_p.I128I	p.I128I	NM_001123041	NP_001116513	P41597	CCR2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)	2	869	+			128			Helical; Name=3; (Potential).		A0AVQ3|B2RMT0|Q4VBL2	Silent	SNP	ENST00000400888.2	37	c.384C>T	CCDS43078.1																																																																																				0.468	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1		NM_000647		76	274	0	0	0	1	0	76	274		
LTF	4057	broad.mit.edu	37	3	46492002	46492002	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:46492002G>A	ENST00000231751.4	-	7	1160	c.865C>T	c.(865-867)Ctt>Ttt	p.L289F	LTF_ENST00000417439.1_Missense_Mutation_p.L289F|LTF_ENST00000426532.2_Missense_Mutation_p.L245F	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	289	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		TGGCGGAGAAGATTCCAGATG	0.562																																						uc003cpq.2		NaN																	0				central_nervous_system(2)|ovary(1)|lung(1)	4						c.(865-867)CTT>TTT		lactotransferrin precursor	Pefloxacin(DB00487)						83.0	77.0	79.0					3																	46492002		2203	4296	6499	SO:0001583	missense	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46492002G>A		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.865C>T	3.37:g.46492002G>A	ENSP00000231751:p.Leu289Phe					LTF_uc003fzr.2_Missense_Mutation_p.L245F|LTF_uc010hjh.2_Missense_Mutation_p.L289F|LTF_uc003cpr.2_Missense_Mutation_p.L276F	p.L289F	NM_002343	NP_002334	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	7	903	-			289			Transferrin-like 1.		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	c.865C>T	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	G	1.109	-0.658799	0.03454	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	4.39	-0.35	0.12606	.	0.573587	0.19048	N	0.124126	T	0.27524	0.0676	N	0.25031	0.7	0.18873	N	0.999984	B;B;B	0.25486	0.067;0.127;0.067	B;B;B	0.34138	0.176;0.088;0.176	T	0.25606	-1.0127	10	0.33940	T	0.23	0.351	7.6729	0.28470	0.6034:0.0:0.3966:0.0	.	289;276;289	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	F	289;245;289;276	ENSP00000231751:L289F;ENSP00000405719:L245F;ENSP00000405546:L289F;ENSP00000397427:L276F	ENSP00000231751:L289F	L	-	1	0	LTF	46467006	0.591000	0.26824	0.007000	0.13788	0.009000	0.06853	0.922000	0.28734	0.007000	0.14760	0.655000	0.94253	CTT		0.562	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2		NM_002343		9	27	0	0	0	1	0	9	27		
PRSS50	29122	broad.mit.edu	37	3	46753882	46753882	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:46753882C>T	ENST00000460241.1	-	11	2682	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	PRSS50_ENST00000315170.7_Missense_Mutation_p.E338K			Q9UI38	TSP50_HUMAN	protease, serine, 50	338	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						GGTGGGGCCTCGCTCTTCTGG	0.637																																					Pancreas(41;915 1239 11561 17469)	uc003cqe.1		NaN																	0					0						c.(1012-1014)GAG>AAG		testes-specific protease 50 precursor							66.0	58.0	61.0					3																	46753882		2203	4300	6503	SO:0001583	missense	29122				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	g.chr3:46753882C>T	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"""Serine peptidases / Serine peptidases"""	17910	protein-coding gene	gene with protein product	"""cancer/testis antigen 20"", ""testes specific protease 50"""	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.1012G>A	3.37:g.46753882C>T	ENSP00000418875:p.Glu338Lys					PRSS50_uc003cqf.1_Missense_Mutation_p.E252K	p.E338K	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN			6	1071	-			338			Peptidase S1.			Missense_Mutation	SNP	ENST00000460241.1	37	c.1012G>A	CCDS2745.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.445156	0.25987	.	.	ENSG00000206549	ENST00000455218;ENST00000315170;ENST00000460241	D;D	0.88277	-2.36;-2.36	4.08	-6.75	0.01738	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.572000	0.03813	N	0.266283	T	0.72503	0.3468	N	0.12443	0.215	0.09310	N	1	P	0.38863	0.65	B	0.29942	0.109	T	0.68911	-0.5284	10	0.27785	T	0.31	.	7.3411	0.26637	0.0:0.208:0.232:0.56	.	338	Q9UI38	TSP50_HUMAN	K	252;338;338	ENSP00000326598:E338K;ENSP00000418875:E338K	ENSP00000326598:E338K	E	-	1	0	PRSS50	46728886	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.845000	0.01677	-1.775000	0.01287	-0.844000	0.03045	GAG		0.637	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1				15	48	0	0	0	1	0	15	48		
KLHL18	23276	broad.mit.edu	37	3	47384267	47384267	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:47384267G>C	ENST00000232766.5	+	9	1305	c.1285G>C	c.(1285-1287)Gag>Cag	p.E429Q	KLHL18_ENST00000455924.2_Missense_Mutation_p.E317Q	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	429										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TACAGTCTTTGAGGGCAGGAT	0.512																																						uc003crd.2		NaN																	0					0						c.(1285-1287)GAG>CAG		kelch-like 18							204.0	175.0	185.0					3																	47384267		2203	4300	6503	SO:0001583	missense	23276							g.chr3:47384267G>C	AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.1285G>C	3.37:g.47384267G>C	ENSP00000232766:p.Glu429Gln					KLHL18_uc011bav.1_Missense_Mutation_p.E317Q	p.E429Q	NM_025010	NP_079286	O94889	KLH18_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)	9	1411	+		Acute lymphoblastic leukemia(5;0.164)	429			Kelch 3.		A8K612|Q7Z3E8|Q8N125	Missense_Mutation	SNP	ENST00000232766.5	37	c.1285G>C	CCDS33749.1	.	.	.	.	.	.	.	.	.	.	G	34	5.299686	0.95574	.	.	ENSG00000114648	ENST00000232766;ENST00000455924	T;T	0.77877	-1.13;-1.13	5.34	5.34	0.76211	Galactose oxidase, beta-propeller (1);	0.056175	0.64402	D	0.000001	T	0.71375	0.3332	L	0.35288	1.05	0.80722	D	1	B	0.18863	0.031	B	0.20955	0.032	T	0.66646	-0.5871	10	0.48119	T	0.1	.	18.4034	0.90525	0.0:0.0:1.0:0.0	.	429	O94889	KLH18_HUMAN	Q	429;317	ENSP00000232766:E429Q;ENSP00000405585:E317Q	ENSP00000232766:E429Q	E	+	1	0	KLHL18	47359271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.308000	0.96247	2.664000	0.90586	0.650000	0.86243	GAG		0.512	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1		NM_025010		22	53	0	0	0	1	0	22	53		
DHX30	22907	broad.mit.edu	37	3	47868907	47868907	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:47868907C>T	ENST00000445061.1	+	5	602	c.195C>T	c.(193-195)ctC>ctT	p.L65L	DHX30_ENST00000457607.1_Silent_p.L93L|DHX30_ENST00000348968.4_Silent_p.L37L|DHX30_ENST00000446256.2_Silent_p.L26L	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	65	DRBM.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GAAGAGCCCTCGGCATCTCAC	0.418																																						uc003cru.2		NaN																	0				ovary(2)|skin(2)	4						c.(193-195)CTC>CTT		DEAH (Asp-Glu-Ala-His) box polypeptide 30							100.0	97.0	98.0					3																	47868907		2203	4300	6503	SO:0001819	synonymous_variant	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47868907C>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.195C>T	3.37:g.47868907C>T						DHX30_uc003crs.2_Silent_p.L26L|DHX30_uc003crt.2_Silent_p.L26L|DHX30_uc010hjr.1_Silent_p.L93L	p.L65L	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	5	621	+			65			DRBM.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Silent	SNP	ENST00000445061.1	37	c.195C>T	CCDS2759.1																																																																																				0.418	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2		NM_138615		23	59	0	0	0	1	0	23	59		
COL7A1	1294	broad.mit.edu	37	3	48603971	48603971	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:48603971C>G	ENST00000328333.8	-	112	8437	c.8330G>C	c.(8329-8331)cGa>cCa	p.R2777P	COL7A1_ENST00000454817.1_Missense_Mutation_p.R2745P|UCN2_ENST00000273610.3_5'Flank|COL7A1_ENST00000470076.1_5'Flank	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2777	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTCTCGCCTCGAGGACCGGC	0.667																																						uc003ctz.2		NaN																	0				ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(8329-8331)CGA>CCA		alpha 1 type VII collagen precursor							87.0	93.0	91.0					3																	48603971		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48603971C>G	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.8330G>C	3.37:g.48603971C>G	ENSP00000332371:p.Arg2777Pro					UCN2_uc003cty.1_5'Flank	p.R2777P	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	112	8331	-			2777			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.8330G>C	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	4.461	0.085362	0.08583	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.94232	-3.38;-3.38	4.6	3.73	0.42828	.	0.000000	0.44097	D	0.000481	D	0.90266	0.6956	N	0.04994	-0.135	0.29613	N	0.846755	D	0.76494	0.999	D	0.72338	0.977	D	0.84904	0.0844	10	0.26408	T	0.33	.	10.1337	0.42693	0.0:0.9074:0.0:0.0926	.	2777	Q02388	CO7A1_HUMAN	P	2777;2745	ENSP00000332371:R2777P;ENSP00000412569:R2745P	ENSP00000332371:R2777P	R	-	2	0	COL7A1	48578975	0.984000	0.35163	0.597000	0.28824	0.011000	0.07611	2.883000	0.48554	1.178000	0.42870	-0.373000	0.07131	CGA		0.667	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1		NM_000094		44	142	0	0	0	1	0	44	142		
COL7A1	1294	broad.mit.edu	37	3	48613150	48613150	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:48613150C>G	ENST00000328333.8	-	72	5995	c.5888G>C	c.(5887-5889)tGg>tCg	p.W1963S	COL7A1_ENST00000454817.1_Missense_Mutation_p.W1931S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1963	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTCTCATCCCAGGTCTCCAC	0.667																																						uc003ctz.2		NaN																	0				ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(5887-5889)TGG>TCG		alpha 1 type VII collagen precursor							47.0	47.0	47.0					3																	48613150		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48613150C>G	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.5888G>C	3.37:g.48613150C>G	ENSP00000332371:p.Trp1963Ser						p.W1963S	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	72	5889	-			1963			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.5888G>C	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.468817	0.26335	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.84660	-1.88;-1.87	4.87	3.94	0.45596	.	0.000000	0.39909	N	0.001234	T	0.69851	0.3157	N	0.24115	0.695	0.47476	D	0.999434	B	0.29341	0.242	B	0.32805	0.153	T	0.61955	-0.6956	10	0.07813	T	0.8	.	5.0383	0.14445	0.348:0.5312:0.0:0.1208	.	1963	Q02388	CO7A1_HUMAN	S	1963;1931	ENSP00000332371:W1963S;ENSP00000412569:W1931S	ENSP00000332371:W1963S	W	-	2	0	COL7A1	48588154	0.997000	0.39634	1.000000	0.80357	0.974000	0.67602	1.119000	0.31258	2.393000	0.81446	0.655000	0.94253	TGG		0.667	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1		NM_000094		20	89	0	0	0	1	0	20	89		
PRKAR2A	5576	broad.mit.edu	37	3	48884791	48884791	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:48884791G>A	ENST00000265563.8	-	1	488	c.239C>T	c.(238-240)tCg>tTg	p.S80L	PRKAR2A_ENST00000454963.1_Missense_Mutation_p.S80L|PRKAR2A-AS1_ENST00000412171.2_RNA|PRKAR2A_ENST00000296446.8_Missense_Mutation_p.S80L|PRKAR2A-AS1_ENST00000416209.2_RNA|PRKAR2A-AS1_ENST00000435419.1_RNA|PRKAR2A-AS1_ENST00000431705.1_RNA	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	80	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		GTCCTCCTCCGACTCGCTGTC	0.716																																						uc010hki.1		NaN																	0				ovary(1)	1						c.(238-240)TCG>TTG		cAMP-dependent protein kinase, regulatory							18.0	20.0	19.0					3																	48884791		2202	4298	6500	SO:0001583	missense	5576				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr3:48884791G>A		CCDS2778.1	3p21.3-p21.2	2009-07-10			ENSG00000114302	ENSG00000114302	2.7.11.1		9391	protein-coding gene	gene with protein product		176910		PRKAR2		9676433	Standard	NM_004157		Approved		uc003cux.1	P13861	OTTHUMG00000133540	ENST00000265563.8:c.239C>T	3.37:g.48884791G>A	ENSP00000265563:p.Ser80Leu					PRKAR2A_uc003cux.1_Missense_Mutation_p.S80L|PRKAR2A_uc003cuy.1_Missense_Mutation_p.S80L|uc003cuz.1_5'Flank	p.S80L	NM_004157	NP_004148	P13861	KAP2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)	1	480	-			80			Dimerization and phosphorylation.		Q16823|Q9BUB1	Missense_Mutation	SNP	ENST00000265563.8	37	c.239C>T	CCDS2778.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888889	0.52014	.	.	ENSG00000114302	ENST00000265563;ENST00000454963;ENST00000296446;ENST00000419216	D;D;D	0.82619	-1.63;-1.63;-1.63	3.56	2.56	0.30785	.	5.832230	0.00899	N	0.002337	T	0.79834	0.4514	L	0.58101	1.795	0.30730	N	0.747325	B;B	0.25486	0.127;0.127	B;B	0.21917	0.03;0.037	T	0.65319	-0.6197	10	0.30078	T	0.28	-9.3699	5.6083	0.17391	0.0:0.199:0.471:0.33	.	80;80	Q9BUB1;P13861	.;KAP2_HUMAN	L	80	ENSP00000265563:S80L;ENSP00000394041:S80L;ENSP00000296446:S80L	ENSP00000265563:S80L	S	-	2	0	PRKAR2A	48859795	0.000000	0.05858	0.440000	0.26846	0.232000	0.25224	0.763000	0.26517	1.932000	0.55993	0.557000	0.71058	TCG		0.716	PRKAR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257518.1				14	27	0	0	0	1	0	14	27		
PRKAR2A	5576	broad.mit.edu	37	3	48884887	48884887	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:48884887G>C	ENST00000265563.8	-	1	392	c.143C>G	c.(142-144)tCa>tGa	p.S48*	PRKAR2A_ENST00000454963.1_Nonsense_Mutation_p.S48*|PRKAR2A-AS1_ENST00000412171.2_RNA|PRKAR2A_ENST00000296446.8_Nonsense_Mutation_p.S48*|PRKAR2A-AS1_ENST00000416209.2_RNA|PRKAR2A-AS1_ENST00000435419.1_RNA|PRKAR2A-AS1_ENST00000431705.1_RNA	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	48	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		GGGCAGGACTGAGGCTGGGGC	0.726																																						uc010hki.1		NaN																	0				ovary(1)	1						c.(142-144)TCA>TGA		cAMP-dependent protein kinase, regulatory							7.0	11.0	9.0					3																	48884887		2122	4128	6250	SO:0001587	stop_gained	5576				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr3:48884887G>C		CCDS2778.1	3p21.3-p21.2	2009-07-10			ENSG00000114302	ENSG00000114302	2.7.11.1		9391	protein-coding gene	gene with protein product		176910		PRKAR2		9676433	Standard	NM_004157		Approved		uc003cux.1	P13861	OTTHUMG00000133540	ENST00000265563.8:c.143C>G	3.37:g.48884887G>C	ENSP00000265563:p.Ser48*					PRKAR2A_uc003cux.1_Nonsense_Mutation_p.S48*|PRKAR2A_uc003cuy.1_Nonsense_Mutation_p.S48*|uc003cuz.1_5'Flank	p.S48*	NM_004157	NP_004148	P13861	KAP2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)	1	384	-			48			Dimerization and phosphorylation.		Q16823|Q9BUB1	Nonsense_Mutation	SNP	ENST00000265563.8	37	c.143C>G	CCDS2778.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937382	0.92458	.	.	ENSG00000114302	ENST00000265563;ENST00000454963;ENST00000296446;ENST00000419216	.	.	.	3.21	2.25	0.28309	.	0.737734	0.10737	U	0.639970	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-10.2273	5.3323	0.15940	0.134:0.0:0.6569:0.2091	.	.	.	.	X	48	.	ENSP00000265563:S48X	S	-	2	0	PRKAR2A	48859891	0.002000	0.14202	0.001000	0.08648	0.327000	0.28475	1.017000	0.29989	0.556000	0.29098	0.460000	0.39030	TCA		0.726	PRKAR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257518.1				6	11	0	0	0	1	0	6	11		
P4HTM	54681	broad.mit.edu	37	3	49027929	49027929	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:49027929C>G	ENST00000383729.4	+	1	611	c.240C>G	c.(238-240)ctC>ctG	p.L80L	P4HTM_ENST00000343546.4_Silent_p.L80L|P4HTM_ENST00000609406.1_3'UTR|RP13-131K19.2_ENST00000452042.1_RNA	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	80						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CGCTGCTGCTCTTCGTGCACT	0.682																																						uc003cvg.2		NaN																	0				skin(1)|pancreas(1)	2						c.(238-240)CTC>CTG		hypoxia-inducible factor prolyl 4-hydroxylase	Vitamin C(DB00126)						36.0	23.0	28.0					3																	49027929		2192	4278	6470	SO:0001819	synonymous_variant	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49027929C>G		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.240C>G	3.37:g.49027929C>G						P4HTM_uc003cvh.2_Silent_p.L80L	p.L80L	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN			1	589	+			80			Helical; Signal-anchor for type II membrane protein; (Potential).		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Silent	SNP	ENST00000383729.4	37	c.240C>G	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503462	0.26949	.	.	ENSG00000178467	ENST00000444213	.	.	.	4.35	2.42	0.29668	.	0.218923	0.35179	N	0.003384	T	0.73218	0.3559	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75491	-0.3299	6	0.72032	D	0.01	-21.3976	14.2307	0.65890	0.0:0.5973:0.4027:0.0	.	.	.	.	V	32	.	ENSP00000398554:L32V	L	+	1	0	P4HTM	49002933	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.158000	0.31737	0.233000	0.21120	0.462000	0.41574	CTT		0.682	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1		NM_177938		14	33	0	0	0	1	0	14	33		
WDR6	11180	broad.mit.edu	37	3	49050213	49050213	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:49050213C>T	ENST00000608424.1	+	2	1285	c.1246C>T	c.(1246-1248)Cgt>Tgt	p.R416C	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000448293.1_Missense_Mutation_p.R365C|WDR6_ENST00000395474.3_Missense_Mutation_p.R446C			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	416					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TGGGGAAGGTCGTGTCAAGGT	0.572																																						uc003cvj.2		NaN																	0				central_nervous_system(1)	1						c.(1336-1338)CGT>TGT		WD repeat domain 6 protein							69.0	57.0	61.0					3																	49050213		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49050213C>T	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.1246C>T	3.37:g.49050213C>T	ENSP00000477389:p.Arg416Cys					WDR6_uc011bbx.1_Missense_Mutation_p.R317C|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.R390C|WDR6_uc011bbz.1_Missense_Mutation_p.R365C	p.R446C	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	1474	+			416					B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.1336C>T		.	.	.	.	.	.	.	.	.	.	C	1.249	-0.619035	0.03663	.	.	ENSG00000178252	ENST00000395474;ENST00000448293	T;T	0.60424	0.19;0.2	5.28	-2.0	0.07433	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);	1.137230	0.06083	N	0.662275	T	0.36054	0.0953	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.18999	-1.0319	10	0.37606	T	0.19	-0.0075	6.9635	0.24610	0.0:0.4779:0.2034:0.3187	.	287;416;365	B4DK45;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	C	446;365	ENSP00000378857:R446C;ENSP00000413432:R365C	ENSP00000378857:R446C	R	+	1	0	WDR6	49025217	0.000000	0.05858	0.003000	0.11579	0.354000	0.29330	-0.286000	0.08399	-0.518000	0.06452	-2.778000	0.00118	CGT		0.572	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1				10	49	0	0	0	1	0	10	49		
LAMB2	3913	broad.mit.edu	37	3	49160696	49160696	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:49160696G>A	ENST00000418109.1	-	27	4257	c.4093C>T	c.(4093-4095)Cgg>Tgg	p.R1365W	LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000398888.2_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.R1365W|USP19_ENST00000453664.1_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398892.3_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1365	Domain II.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTCCGATGCCGAGCACTTGCC	0.587																																						uc003cwe.2		NaN																	0				ovary(3)	3						c.(4093-4095)CGG>TGG		laminin, beta 2 precursor							166.0	143.0	151.0					3																	49160696		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49160696G>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4093C>T	3.37:g.49160696G>A	ENSP00000388325:p.Arg1365Trp					USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank	p.R1365W	NM_002292	NP_002283	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	26	4392	-			1365			Domain II.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.4093C>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296859	0.60086	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	T;T	0.35048	1.33;1.33	5.63	3.79	0.43588	.	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61613	-0.7027	10	0.87932	D	0	.	13.6847	0.62508	0.0:0.0:0.597:0.403	.	1365	P55268	LAMB2_HUMAN	W	1365;1365;132	ENSP00000388325:R1365W;ENSP00000307156:R1365W	ENSP00000307156:R1365W	R	-	1	2	LAMB2	49135700	1.000000	0.71417	0.575000	0.28536	0.894000	0.52154	3.646000	0.54396	0.660000	0.30964	0.655000	0.94253	CGG		0.587	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1		NM_002292		41	124	0	0	0	1	0	41	124		
KLHDC8B	200942	broad.mit.edu	37	3	49212219	49212219	+	Missense_Mutation	SNP	G	G	C	rs561899060		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:49212219G>C	ENST00000332780.2	+	4	795	c.586G>C	c.(586-588)Gat>Cat	p.D196H	C3orf84_ENST00000443990.1_5'Flank|KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	196						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAAGCCTTTGATCTGGAGGC	0.632																																						uc003cwh.2		NaN																	0					0						c.(586-588)GAT>CAT		kelch domain containing 8B							27.0	30.0	29.0					3																	49212219		2203	4300	6503	SO:0001583	missense	200942					cytoplasm		g.chr3:49212219G>C		CCDS2791.1	3p21.31	2008-02-05			ENSG00000185909	ENSG00000185909			28557	protein-coding gene	gene with protein product		613169					Standard	NM_173546		Approved	MGC35097	uc003cwh.3	Q8IXV7	OTTHUMG00000156814	ENST00000332780.2:c.586G>C	3.37:g.49212219G>C	ENSP00000327468:p.Asp196His					KLHDC8B_uc003cwi.1_Missense_Mutation_p.D69H	p.D196H	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	4	771	+			196			Kelch 5.			Missense_Mutation	SNP	ENST00000332780.2	37	c.586G>C	CCDS2791.1	.	.	.	.	.	.	.	.	.	.	G	32	5.187730	0.94923	.	.	ENSG00000185909	ENST00000332780	T	0.77098	-1.07	5.97	5.97	0.96955	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.91643	0.7359	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92689	0.6165	10	0.66056	D	0.02	-20.335	19.4161	0.94700	0.0:0.0:1.0:0.0	.	150;196	B4DFM2;Q8IXV7	.;KLD8B_HUMAN	H	196	ENSP00000327468:D196H	ENSP00000327468:D196H	D	+	1	0	KLHDC8B	49187223	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.836000	0.99456	2.837000	0.97791	0.655000	0.94253	GAT		0.632	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345974.1		NM_173546		22	58	0	0	0	1	0	22	58		
DAG1	1605	broad.mit.edu	37	3	49569108	49569108	+	Silent	SNP	T	T	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:49569108T>C	ENST00000539901.1	+	3	1722	c.1164T>C	c.(1162-1164)acT>acC	p.T388T	DAG1_ENST00000515359.2_Silent_p.T388T|DAG1_ENST00000541308.1_Silent_p.T388T|DAG1_ENST00000308775.2_Silent_p.T388T|DAG1_ENST00000545947.1_Silent_p.T388T|DAG1_ENST00000538711.1_Silent_p.T388T	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	388	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TCCAGCCTACTCGGGTGTCAG	0.587																																						uc003cxc.3		NaN																	0				ovary(2)	2						c.(1162-1164)ACT>ACC		dystroglycan 1 preproprotein							96.0	101.0	99.0					3																	49569108		2203	4300	6503	SO:0001819	synonymous_variant	1605				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	g.chr3:49569108T>C	L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.1164T>C	3.37:g.49569108T>C							p.T388T	NM_004393	NP_004384	Q14118	DAG1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1582	+			388			Thr-rich.|Required for laminin recognition.|Mucin-like domain.		A8K6M7|Q969J9	Silent	SNP	ENST00000539901.1	37	c.1164T>C	CCDS2799.1																																																																																				0.587	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1				59	152	0	0	0	1	0	59	152		
IP6K1	9807	broad.mit.edu	37	3	49770264	49770264	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:49770264C>G	ENST00000321599.4	-	4	877	c.576G>C	c.(574-576)ctG>ctC	p.L192L	IP6K1_ENST00000468463.1_Silent_p.L192L|IP6K1_ENST00000395238.1_Silent_p.L27L|IP6K1_ENST00000460540.1_Silent_p.L27L	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	192					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						GCATGCGGCTCAGCTGCTGCT	0.567																																						uc003cxm.1		NaN																	0					0						c.(574-576)CTG>CTC		inositol hexakisphosphate kinase 1 isoform 1							90.0	78.0	82.0					3																	49770264		2203	4300	6503	SO:0001819	synonymous_variant	9807				phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	g.chr3:49770264C>G	D87452	CCDS33760.1, CCDS43092.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000176095	ENSG00000176095			18360	protein-coding gene	gene with protein product		606991	"""inositol hexaphosphate kinase 1"""	IHPK1			Standard	NM_001242829		Approved	KIAA0263	uc003cxm.1	Q92551	OTTHUMG00000158197	ENST00000321599.4:c.576G>C	3.37:g.49770264C>G						IP6K1_uc003cxn.1_Silent_p.L27L|IP6K1_uc011bcv.1_Silent_p.L27L|IP6K1_uc003cxo.2_Silent_p.L192L	p.L192L	NM_153273	NP_695005	Q92551	IP6K1_HUMAN			4	891	-			192					A8K157|A8MUX4|Q7L3I7|Q96E38	Silent	SNP	ENST00000321599.4	37	c.576G>C	CCDS33760.1																																																																																				0.567	IP6K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350380.1		NM_153273		25	53	0	0	0	1	0	25	53		
PBRM1	55193	broad.mit.edu	37	3	52582190	52582190	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:52582190C>T	ENST00000296302.7	-	30	4960	c.4959G>A	c.(4957-4959)ctG>ctA	p.L1653L	PBRM1_ENST00000337303.4_Silent_p.L1546L|PBRM1_ENST00000409114.3_Silent_p.L1616L|PBRM1_ENST00000409057.1_Silent_p.L1598L|PBRM1_ENST00000356770.4_Silent_p.L1566L|PBRM1_ENST00000394830.3_Silent_p.L1546L|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409767.1_Silent_p.L1561L|PBRM1_ENST00000410007.1_Silent_p.L1573L			Q86U86	PB1_HUMAN	polybromo 1	1653					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTTTGCTTTTCAGCCAGTGAG	0.507			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	uc003des.2		NaN		Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		0				kidney(136)|breast(4)	140						c.(4957-4959)CTG>CTA		polybromo 1 isoform 4							130.0	127.0	128.0					3																	52582190		2203	4300	6503	SO:0001819	synonymous_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52582190C>T	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4959G>A	3.37:g.52582190C>T						PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Silent_p.L1546L|PBRM1_uc003der.2_Silent_p.L1566L|PBRM1_uc003det.2_Silent_p.L1561L|PBRM1_uc003deu.2_Silent_p.L1616L|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Silent_p.L1598L|PBRM1_uc010hmk.1_Silent_p.L1573L|PBRM1_uc003dey.2_Silent_p.L1546L	p.L1653L	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	30	4971	-			1653					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	ENST00000296302.7	37	c.4959G>A																																																																																					0.507	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165		46	121	0	0	0	1	0	46	121		
PBRM1	55193	broad.mit.edu	37	3	52620683	52620683	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:52620683C>T	ENST00000296302.7	-	20	3146	c.3145G>A	c.(3145-3147)Gaa>Aaa	p.E1049K	PBRM1_ENST00000337303.4_Missense_Mutation_p.E1049K|PBRM1_ENST00000409114.3_Missense_Mutation_p.E1064K|PBRM1_ENST00000409057.1_Missense_Mutation_p.E1049K|PBRM1_ENST00000356770.4_Missense_Mutation_p.E1017K|PBRM1_ENST00000394830.3_Missense_Mutation_p.E1024K|PBRM1_ENST00000409767.1_Missense_Mutation_p.E1064K|PBRM1_ENST00000410007.1_Missense_Mutation_p.E1024K			Q86U86	PB1_HUMAN	polybromo 1	1049	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CGGAAGTTTTCTGGGCATAAC	0.358			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	uc003des.2		NaN		Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		0				kidney(136)|breast(4)	140						c.(3145-3147)GAA>AAA		polybromo 1 isoform 4							56.0	61.0	59.0					3																	52620683		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52620683C>T	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3145G>A	3.37:g.52620683C>T	ENSP00000296302:p.Glu1049Lys					PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.E1049K|PBRM1_uc003der.2_Missense_Mutation_p.E1017K|PBRM1_uc003det.2_Missense_Mutation_p.E1064K|PBRM1_uc003deu.2_Missense_Mutation_p.E1064K|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.E1049K|PBRM1_uc010hmk.1_Missense_Mutation_p.E1024K|PBRM1_uc003dey.2_Missense_Mutation_p.E1024K|PBRM1_uc003dez.1_Missense_Mutation_p.E1048K|PBRM1_uc003dfb.1_Missense_Mutation_p.E961K|PBRM1_uc003dfa.1_Missense_Mutation_p.E395K	p.E1049K	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	20	3157	-			1049			BAH 1.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.3145G>A		.	.	.	.	.	.	.	.	.	.	C	25.6	4.655199	0.88056	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	D;D;D;D;D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	5.24	5.24	0.73138	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.86460	0.5938	N	0.25789	0.76	0.80722	D	1	P;D;P;P;P;D;D;P;P	0.65815	0.925;0.988;0.873;0.948;0.878;0.959;0.995;0.948;0.912	P;P;B;P;B;P;P;P;B	0.60541	0.616;0.876;0.359;0.565;0.299;0.569;0.864;0.565;0.25	D	0.85396	0.1128	10	0.32370	T	0.25	-3.9295	18.8066	0.92040	0.0:1.0:0.0:0.0	.	1024;1048;1024;1049;1064;1064;1049;1017;1049	Q86U86-9;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	K	1017;1024;1049;1049;1049;1024;1064;1064;1048;1007	ENSP00000349213:E1017K;ENSP00000378307:E1024K;ENSP00000296302:E1049K;ENSP00000338302:E1049K;ENSP00000386593:E1049K;ENSP00000386529:E1024K;ENSP00000386643:E1064K;ENSP00000386601:E1064K;ENSP00000387775:E1048K;ENSP00000397662:E1007K	ENSP00000296302:E1049K	E	-	1	0	PBRM1	52595723	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.437000	0.80417	2.435000	0.82474	0.555000	0.69702	GAA		0.358	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165		14	66	0	0	0	1	0	14	66		
PBRM1	55193	broad.mit.edu	37	3	52621527	52621527	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:52621527C>G	ENST00000296302.7	-	19	2967		c.e19-1		PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000394830.3_Intron|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000410007.1_Intron			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.?(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CATTTTTCACCTCAAAAATGG	0.363			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	uc003des.2		NaN		Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		3	Unknown(3)		lung(3)	kidney(136)|breast(4)	140						c.e19-1		polybromo 1 isoform 4							39.0	41.0	40.0					3																	52621527		2203	4300	6503	SO:0001630	splice_region_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52621527C>G	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2966-1G>C	3.37:g.52621527C>G						PBRM1_uc003dex.2_Splice_Site|PBRM1_uc003deq.2_Splice_Site_p.G989_splice|PBRM1_uc003der.2_Splice_Site_p.G957_splice|PBRM1_uc003det.2_Splice_Site_p.G1004_splice|PBRM1_uc003deu.2_Splice_Site_p.G1004_splice|PBRM1_uc003dev.2_Splice_Site|PBRM1_uc003dew.2_Splice_Site_p.G989_splice|PBRM1_uc010hmk.1_Intron|PBRM1_uc003dey.2_Intron|PBRM1_uc003dez.1_Splice_Site_p.G988_splice|PBRM1_uc003dfb.1_Splice_Site_p.G901_splice|PBRM1_uc003dfa.1_Splice_Site_p.G335_splice	p.G989_splice	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	19	2978	-								A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	ENST00000296302.7	37	c.2966_splice		.	.	.	.	.	.	.	.	.	.	C	26.8	4.776128	0.90195	.	.	ENSG00000163939	ENST00000356770;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3081	0.98638	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52596567	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.776000	0.85560	2.795000	0.96236	0.655000	0.94253	.		0.363	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	Intron	13	57	0	0	0	1	0	13	57		
ACTR8	93973	broad.mit.edu	37	3	53908249	53908249	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:53908249G>C	ENST00000335754.3	-	8	1154	c.1054C>G	c.(1054-1056)Cat>Gat	p.H352D	ACTR8_ENST00000482349.1_Missense_Mutation_p.H241D|ACTR8_ENST00000231909.7_Intron	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	352					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TGATCTAAATGACAAAAAGTT	0.338																																						uc003dhd.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1054-1056)CAT>GAT		actin-related protein 8							50.0	49.0	49.0					3																	53908249		2203	4300	6503	SO:0001583	missense	93973				cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	g.chr3:53908249G>C		CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.1054C>G	3.37:g.53908249G>C	ENSP00000336842:p.His352Asp					ACTR8_uc003dhb.2_Intron|ACTR8_uc003dhc.2_Missense_Mutation_p.H241D	p.H352D	NM_022899	NP_075050	Q9H981	ARP8_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)	8	1113	-			352					B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	ENST00000335754.3	37	c.1054C>G	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496932	0.85069	.	.	ENSG00000113812	ENST00000335754;ENST00000482349	D;D	0.94092	-3.35;-3.35	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.96288	0.8789	M	0.83953	2.67	0.80722	D	1	D	0.54397	0.966	P	0.60117	0.869	D	0.95442	0.8526	10	0.36615	T	0.2	-13.2373	17.6528	0.88169	0.0:0.0:1.0:0.0	.	352	Q9H981	ARP8_HUMAN	D	352;241	ENSP00000336842:H352D;ENSP00000419429:H241D	ENSP00000336842:H352D	H	-	1	0	ACTR8	53883289	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.419000	0.97397	2.594000	0.87642	0.637000	0.83480	CAT		0.338	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2		NM_022899		16	39	0	0	0	1	0	16	39		
PDE12	201626	broad.mit.edu	37	3	57545645	57545645	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:57545645G>A	ENST00000311180.8	+	3	1847	c.1744G>A	c.(1744-1746)Gaa>Aaa	p.E582K	PDE12_ENST00000487257.1_3'UTR	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	582					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		ACCTAGTCATGAAGAAGTTAC	0.373																																					Colon(125;308 1634 19198 50622 50717)	uc003diw.3		NaN																	0					0						c.(1744-1746)GAA>AAA		phosphodiesterase 12							208.0	199.0	202.0					3																	57545645		2203	4300	6503	SO:0001583	missense	201626						hydrolase activity	g.chr3:57545645G>A	AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"""2'-phosphodiesterase"""					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.1744G>A	3.37:g.57545645G>A	ENSP00000309142:p.Glu582Lys					PDE12_uc003div.2_3'UTR	p.E582K	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)	3	1870	+			582					B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Missense_Mutation	SNP	ENST00000311180.8	37	c.1744G>A	CCDS33772.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967864	0.92855	.	.	ENSG00000174840	ENST00000311180	D	0.95103	-3.61	5.6	5.6	0.85130	Endonuclease/exonuclease/phosphatase (2);	0.149633	0.64402	D	0.000015	D	0.96651	0.8907	M	0.64080	1.96	0.80722	D	1	D	0.60160	0.987	D	0.66196	0.942	D	0.96804	0.9591	10	0.72032	D	0.01	-3.317	19.6138	0.95622	0.0:0.0:1.0:0.0	.	582	Q6L8Q7	PDE12_HUMAN	K	582	ENSP00000309142:E582K	ENSP00000309142:E582K	E	+	1	0	PDE12	57520685	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.874000	0.56101	2.644000	0.89710	0.563000	0.77884	GAA		0.373	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2		NM_177966		37	110	0	0	0	1	0	37	110		
CADPS	8618	broad.mit.edu	37	3	62501761	62501761	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:62501761G>A	ENST00000383710.4	-	16	2903	c.2554C>T	c.(2554-2556)Cgg>Tgg	p.R852W	CADPS_ENST00000357948.3_Missense_Mutation_p.R835W|CADPS_ENST00000283269.9_Missense_Mutation_p.R852W	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	852	Interaction with DRD2.				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)			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)		TCTGAGAGCCGAGAATAGTTG	0.433																																						uc003dll.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(2554-2556)CGG>TGG		Ca2+-dependent secretion activator isoform 1							136.0	120.0	125.0					3																	62501761		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62501761G>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.2554C>T	3.37:g.62501761G>A	ENSP00000373215:p.Arg852Trp					CADPS_uc003dlk.1_Missense_Mutation_p.R356W|CADPS_uc003dlm.2_Missense_Mutation_p.R852W|CADPS_uc003dln.2_Missense_Mutation_p.R835W	p.R852W	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)	16	2914	-		Lung SC(41;0.0452)	852			Interaction with DRD2.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.2554C>T	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.24|18.24	3.581324|3.581324	0.65992|0.65992	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269|ENST00000491424	T;T;T|.	0.54479|.	0.61;0.57;0.6|.	5.95|5.95	4.14|4.14	0.48551|0.48551	Calcium-dependent secretion activator (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75191|0.75191	0.3816|0.3816	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.999;1.0|.	D;D;P;D|.	0.81914|.	0.975;0.995;0.877;0.961|.	T|T	0.77978|0.77978	-0.2384|-0.2384	10|6	0.87932|0.72032	D|D	0|0.01	.|.	14.3483|14.3483	0.66682|0.66682	0.0:0.0:0.6133:0.3867|0.0:0.0:0.6133:0.3867	.|.	835;852;852;852|.	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4|.	.;.;CAPS1_HUMAN;.|.	W|L	852;852;835;852|158	ENSP00000373215:R852W;ENSP00000350632:R835W;ENSP00000283269:R852W|.	ENSP00000283269:R852W|ENSP00000418110:S158L	R|S	-|-	1|2	2|0	CADPS|CADPS	62476801|62476801	1.000000|1.000000	0.71417|0.71417	0.881000|0.881000	0.34555|0.34555	0.996000|0.996000	0.88848|0.88848	5.568000|5.568000	0.67385|0.67385	0.819000|0.819000	0.34492|0.34492	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.433	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5		NM_003716, NM_183393, NM_183394		22	61	0	0	0	1	0	22	61		
MAGI1	9223	broad.mit.edu	37	3	65464309	65464309	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:65464309C>T	ENST00000497477.2	-	4	714	c.715G>A	c.(715-717)Gag>Aag	p.E239K	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Missense_Mutation_p.E239K|MAGI1_ENST00000402939.2_Missense_Mutation_p.E239K|MAGI1_ENST00000330909.8_Missense_Mutation_p.E239K			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	239	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCCTCCTCCTCATTCTCCGCG	0.517																																						uc003dmn.2		NaN																	0				lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6						c.(715-717)GAG>AAG		membrane associated guanylate kinase, WW and PDZ							208.0	177.0	188.0					3																	65464309		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65464309C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.715G>A	3.37:g.65464309C>T	ENSP00000424369:p.Glu239Lys					MAGI1_uc003dmm.2_Missense_Mutation_p.E239K|MAGI1_uc003dmo.2_Missense_Mutation_p.E239K|MAGI1_uc003dmp.2_Missense_Mutation_p.E239K|MAGI1_uc010hny.2_Missense_Mutation_p.E123K|MAGI1_uc003dmr.2_Missense_Mutation_p.E239K	p.E239K	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	4	1241	-		Lung NSC(201;0.0016)	239			Guanylate kinase-like.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.715G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.09|17.09	3.301029|3.301029	0.60195|0.60195	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257;ENST00000479287|ENST00000460329	T;T;T;T;T;T|.	0.53423|.	0.62;0.62;2.23;0.62;0.62;2.17|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Guanylate kinase/L-type calcium channel (1);|.	0.117398|.	0.64402|.	D|.	0.000014|.	T|T	0.65249|0.65249	0.2673|0.2673	L|L	0.56199|0.56199	1.76|1.76	0.41306|0.41306	D|D	0.987076|0.987076	B;B;B;B;B;B|.	0.30361|.	0.169;0.204;0.277;0.089;0.2;0.128|.	B;B;B;B;B;B|.	0.34418|.	0.086;0.055;0.079;0.075;0.117;0.182|.	T|T	0.62756|0.62756	-0.6787|-0.6787	10|5	0.45353|.	T|.	0.12|.	-29.8235|-29.8235	14.5579|14.5579	0.68115|0.68115	0.1461:0.8538:0.0:0.0|0.1461:0.8538:0.0:0.0	.|.	239;239;239;239;239;239|.	Q96QZ7-6;Q96QZ7;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5|.	.;MAGI1_HUMAN;.;.;.;.|.	K|I	239;239;135;114;239;239;25;1|119	ENSP00000385450:E239K;ENSP00000331157:E239K;ENSP00000418177:E114K;ENSP00000420323:E239K;ENSP00000424369:E239K;ENSP00000420796:E25K|.	ENSP00000331157:E239K|.	E|M	-|-	1|3	0|0	MAGI1|MAGI1	65439349|65439349	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.106000|0.106000	0.19336|0.19336	5.621000|5.621000	0.67743|0.67743	2.668000|2.668000	0.90789|0.90789	0.655000|0.655000	0.94253|0.94253	GAG|ATG		0.517	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2		NM_004742		26	109	0	0	0	1	0	26	109		
LRIG1	26018	broad.mit.edu	37	3	66433416	66433416	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:66433416G>C	ENST00000273261.3	-	15	3005	c.2481C>G	c.(2479-2481)gtC>gtG	p.V827V	LRIG1_ENST00000383703.3_Silent_p.V804V|SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	827					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CTGTGTTGGTGACACTGTACT	0.557																																						uc003dmx.2		NaN																	0				skin(3)|ovary(2)	5						c.(2479-2481)GTC>GTG		leucine-rich repeats and immunoglobulin-like							98.0	70.0	80.0					3																	66433416		2203	4300	6503	SO:0001819	synonymous_variant	26018					integral to membrane		g.chr3:66433416G>C	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.2481C>G	3.37:g.66433416G>C						SLC25A26_uc011bft.1_Intron|LRIG1_uc011bfu.1_Silent_p.V447V|LRIG1_uc003dmw.2_Silent_p.V493V|LRIG1_uc010hnz.2_Silent_p.V543V|LRIG1_uc010hoa.2_Silent_p.V804V	p.V827V	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	15	2495	-		Lung NSC(201;0.0101)	827			Cytoplasmic (Potential).		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	c.2481C>G	CCDS33783.1																																																																																				0.557	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1		NM_015541		13	51	0	0	0	1	0	13	51		
KBTBD8	84541	broad.mit.edu	37	3	67049613	67049613	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:67049613C>T	ENST00000417314.2	+	2	274	c.225C>T	c.(223-225)ttC>ttT	p.F75F	KBTBD8_ENST00000295568.4_Silent_p.F49F|KBTBD8_ENST00000469661.1_3'UTR|KBTBD8_ENST00000460576.1_Intron			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	75	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GCCCTTACTTCAGGTATGATG	0.428																																						uc003dmy.2		NaN																	0				ovary(2)|large_intestine(1)|breast(1)	4						c.(223-225)TTC>TTT		T-cell activation kelch repeat protein							166.0	158.0	161.0					3																	67049613		2203	4300	6503	SO:0001819	synonymous_variant	84541							g.chr3:67049613C>T	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.225C>T	3.37:g.67049613C>T						KBTBD8_uc011bfv.1_Intron	p.F75F	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	2	278	+		Lung NSC(201;0.0765)	75			BTB.		B4DTW6|Q96JI5	Silent	SNP	ENST00000417314.2	37	c.225C>T	CCDS2906.2																																																																																				0.428	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1		NM_032505		28	98	0	0	0	1	0	28	98		
MITF	4286	broad.mit.edu	37	3	70005608	70005608	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:70005608G>C	ENST00000448226.2	+	8	1085	c.958G>C	c.(958-960)Gaa>Caa	p.E320Q	MITF_ENST00000314557.6_Missense_Mutation_p.E207Q|MITF_ENST00000352241.4_Missense_Mutation_p.E314Q|MITF_ENST00000531774.1_Missense_Mutation_p.E151Q|MITF_ENST00000394351.3_Missense_Mutation_p.E213Q|MITF_ENST00000328528.6_Missense_Mutation_p.E313Q|MITF_ENST00000394355.2_Missense_Mutation_p.E289Q|MITF_ENST00000472437.1_Missense_Mutation_p.E262Q|MITF_ENST00000314589.5_Missense_Mutation_p.E298Q			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	320	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TCTTGAAGTTGAACGAAGAAG	0.383			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														Melanoma(29;269 969 31479 41502 42961)	uc003dnz.2		NaN		Dom	yes		3	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	Waardenburg syndrome type 2|Tietz syndrome	E			melanoma 		0				ovary(2)	2						c.(940-942)GAA>CAA		microphthalmia-associated transcription factor							100.0	93.0	95.0					3																	70005608		2203	4300	6503	SO:0001583	missense	4286				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr3:70005608G>C		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.958G>C	3.37:g.70005608G>C	ENSP00000391803:p.Glu320Gln					MITF_uc011bgb.1_Missense_Mutation_p.E262Q|MITF_uc003doa.2_Missense_Mutation_p.E313Q|MITF_uc003dob.2_Missense_Mutation_p.E298Q|MITF_uc003dod.2_Missense_Mutation_p.E289Q|MITF_uc003doe.2_Missense_Mutation_p.E207Q|MITF_uc003dof.2_Missense_Mutation_p.E213Q	p.E314Q	NM_198159	NP_937802	O75030	MITF_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)	8	1056	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	320			Basic motif.		B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37	c.940G>C		.	.	.	.	.	.	.	.	.	.	G	28.6	4.933257	0.92458	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000451708;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351;ENST00000531774	D;D;D;D;D;D;D;D;D;D	0.99732	-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.99871	0.9939	H	0.98918	4.37	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.85130	0.997;0.994;0.994;0.991;0.991;0.996;0.994	D	0.96305	0.9224	9	.	.	.	.	18.781	0.91932	0.0:0.0:1.0:0.0	.	262;213;207;289;298;313;314	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	Q	314;320;262;313;304;298;289;207;213;151	ENSP00000295600:E314Q;ENSP00000391803:E320Q;ENSP00000418845:E262Q;ENSP00000327867:E313Q;ENSP00000398639:E304Q;ENSP00000324443:E298Q;ENSP00000377884:E289Q;ENSP00000324246:E207Q;ENSP00000377880:E213Q;ENSP00000435909:E151Q	.	E	+	1	0	MITF	70088298	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.526000	0.85167	0.655000	0.94253	GAA		0.383	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1		NM_198159		9	30	0	0	0	1	0	9	30		
ROBO1	6091	broad.mit.edu	37	3	78649360	78649360	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:78649360C>G	ENST00000464233.1	-	30	4957	c.4844G>C	c.(4843-4845)aGa>aCa	p.R1615T	ROBO1_ENST00000495273.1_Missense_Mutation_p.R1570T|ROBO1_ENST00000467549.1_Missense_Mutation_p.R1515T|ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000436010.2_Missense_Mutation_p.R1576T	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1615					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTCTCTTTGTCTGCTTCCTGA	0.383																																						uc003dqe.2		NaN																	0				large_intestine(2)	2						c.(4843-4845)AGA>ACA		roundabout 1 isoform a							180.0	165.0	170.0					3																	78649360		1888	4102	5990	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78649360C>G	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4844G>C	3.37:g.78649360C>G	ENSP00000420321:p.Arg1615Thr					ROBO1_uc003dqb.2_Missense_Mutation_p.R1576T|ROBO1_uc003dqc.2_Missense_Mutation_p.R1515T|ROBO1_uc003dqd.2_Missense_Mutation_p.R1570T|ROBO1_uc010hoh.2_Missense_Mutation_p.R807T	p.R1615T	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	30	5052	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1615			Cytoplasmic (Potential).		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.4844G>C	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.728219	0.69074	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.70749	-0.37;-0.41;-0.44;-0.51	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.74152	0.3679	N	0.19112	0.55	0.58432	D	0.999998	B;P;B;D	0.57899	0.255;0.928;0.007;0.981	B;B;B;D	0.66351	0.104;0.221;0.006;0.943	T	0.72097	-0.4393	9	.	.	.	.	19.6398	0.95753	0.0:1.0:0.0:0.0	.	1615;1570;1515;1576	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	T	1576;1570;1615;1570;1515;1619	ENSP00000406043:R1576T;ENSP00000420321:R1615T;ENSP00000420637:R1570T;ENSP00000417992:R1515T	.	R	-	2	0	ROBO1	78732050	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.457000	0.73505	2.652000	0.90054	0.555000	0.69702	AGA		0.383	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1		NM_002941		14	39	0	0	0	1	0	14	39		
OR5K3	403277	broad.mit.edu	37	3	98109713	98109713	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:98109713G>C	ENST00000383695.1	+	1	204	c.204G>C	c.(202-204)ctG>ctC	p.L68L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						ACCTAGTTCTGATGGATTCCT	0.398																																						uc011bgw.1		NaN																	0					0						c.(202-204)CTG>CTC		olfactory receptor, family 5, subfamily K,							278.0	272.0	274.0					3																	98109713		2203	4300	6503	SO:0001819	synonymous_variant	403277				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98109713G>C		CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.204G>C	3.37:g.98109713G>C							p.L68L	NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN			1	204	+			68			Helical; Name=2; (Potential).			Silent	SNP	ENST00000383695.1	37	c.204G>C	CCDS33803.1																																																																																				0.398	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1				52	209	0	0	0	1	0	52	209		
BBX	56987	broad.mit.edu	37	3	107524303	107524303	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:107524303G>A	ENST00000325805.8	+	18	3112	c.2825G>A	c.(2824-2826)tGa>tAa	p.*942*	BBX_ENST00000415149.2_Silent_p.*912*|BBX_ENST00000416476.2_Missense_Mutation_p.E606K|BBX_ENST00000406780.1_Silent_p.*912*|BBX_ENST00000402543.1_Silent_p.*892*			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	0					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GCTGACCAGTGAAGCGCCCTT	0.468																																						uc010hpr.2		NaN																	0				ovary(3)|skin(1)	4						c.(2824-2826)TGA>TAA		HMG-BOX transcription factor BBX isoform 1							98.0	96.0	97.0					3																	107524303		2203	4300	6503	SO:0001819	synonymous_variant	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107524303G>A	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.2825G>A	3.37:g.107524303G>A						BBX_uc003dwk.3_Silent_p.*912*|BBX_uc003dwl.3_Missense_Mutation_p.E606K|BBX_uc003dwm.3_Silent_p.*912*|BBX_uc003dwo.3_Missense_Mutation_p.E259K	p.*942*	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		18	3152	+			942					A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Silent	SNP	ENST00000325805.8	37	c.2825G>A	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757115	0.49468	.	.	ENSG00000114439	ENST00000416476	D	0.98987	-5.3	6.16	6.16	0.99307	.	.	.	.	.	D	0.97467	0.9171	.	.	.	0.80722	D	1	B	0.20459	0.045	B	0.16722	0.016	D	0.94264	0.7505	8	0.87932	D	0	.	13.9788	0.64291	0.0686:0.0:0.9314:0.0	.	606	A2RRM7	.	K	606	ENSP00000403860:E606K	ENSP00000403860:E606K	E	+	1	0	BBX	109006993	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.235000	0.72332	2.937000	0.99478	0.650000	0.86243	GAA		0.468	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1		NM_020235		21	88	0	0	0	1	0	21	88		
DZIP3	9666	broad.mit.edu	37	3	108380728	108380728	+	Missense_Mutation	SNP	C	C	T	rs139764708		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:108380728C>T	ENST00000361582.3	+	20	2434	c.2204C>T	c.(2203-2205)tCa>tTa	p.S735L	DZIP3_ENST00000463306.1_Missense_Mutation_p.S735L	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	735					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CAATAGGGCTCAGCTGGCAAA	0.358																																						uc003dxd.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2203-2205)TCA>TTA		DAZ interacting protein 3, zinc finger		C	LEU/SER	2,4404	2.1+/-5.4	0,2,2201	93.0	93.0	93.0		2204	4.7	1.0	3	dbSNP_134	93	0,8600		0,0,4300	no	missense	DZIP3	NM_014648.3	145	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	735/1209	108380728	2,13004	2203	4300	6503	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108380728C>T	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2204C>T	3.37:g.108380728C>T	ENSP00000355028:p.Ser735Leu					DZIP3_uc003dxf.1_Missense_Mutation_p.S735L|DZIP3_uc011bhm.1_Missense_Mutation_p.S186L	p.S735L	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			20	2626	+			735					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.2204C>T	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520736	0.64747	4.54E-4	0.0	ENSG00000198919	ENST00000361582;ENST00000463306	T;T	0.37058	1.22;1.22	4.65	4.65	0.58169	.	0.000000	0.42172	D	0.000753	T	0.51584	0.1683	L	0.47716	1.5	0.38174	D	0.939416	D;P	0.71674	0.998;0.948	D;P	0.76071	0.987;0.68	T	0.56619	-0.7949	10	0.72032	D	0.01	-2.4733	13.2063	0.59798	0.0:1.0:0.0:0.0	.	353;735	D3DN61;Q86Y13	.;DZIP3_HUMAN	L	735	ENSP00000355028:S735L;ENSP00000419981:S735L	ENSP00000355028:S735L	S	+	2	0	DZIP3	109863418	0.993000	0.37304	0.999000	0.59377	0.520000	0.34377	1.938000	0.40203	2.570000	0.86706	0.655000	0.94253	TCA		0.358	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1		NM_014648		10	21	0	0	0	1	0	10	21		
DZIP3	9666	broad.mit.edu	37	3	108403160	108403160	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:108403160C>T	ENST00000361582.3	+	27	3211	c.2981C>T	c.(2980-2982)tCt>tTt	p.S994F	DZIP3_ENST00000463306.1_Missense_Mutation_p.S994F	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	994					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GGAGTCGTCTCTGCAACTGGC	0.433																																						uc003dxd.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2980-2982)TCT>TTT		DAZ interacting protein 3, zinc finger							151.0	173.0	166.0					3																	108403160		2203	4300	6503	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108403160C>T	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2981C>T	3.37:g.108403160C>T	ENSP00000355028:p.Ser994Phe					DZIP3_uc003dxf.1_Missense_Mutation_p.S994F|DZIP3_uc011bhm.1_Missense_Mutation_p.S445F	p.S994F	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			27	3403	+			994					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.2981C>T	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.864923	0.71949	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	T;T	0.22336	1.96;1.96	5.65	5.65	0.86999	.	0.254024	0.28482	N	0.015199	T	0.37945	0.1022	L	0.47716	1.5	0.28528	N	0.912717	P;D	0.71674	0.938;0.998	P;D	0.63488	0.548;0.915	T	0.12451	-1.0547	10	0.87932	D	0	-9.4694	15.093	0.72211	0.0:1.0:0.0:0.0	.	612;994	D3DN61;Q86Y13	.;DZIP3_HUMAN	F	994	ENSP00000355028:S994F;ENSP00000419981:S994F	ENSP00000355028:S994F	S	+	2	0	DZIP3	109885850	0.745000	0.28261	0.652000	0.29579	0.974000	0.67602	1.996000	0.40776	2.941000	0.99782	0.655000	0.94253	TCT		0.433	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1		NM_014648		48	222	0	0	0	1	0	48	222		
TRAT1	50852	broad.mit.edu	37	3	108572556	108572556	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:108572556C>G	ENST00000295756.6	+	6	623	c.393C>G	c.(391-393)ttC>ttG	p.F131L	TRAT1_ENST00000426646.1_Missense_Mutation_p.F94L	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	131					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						ATACTCATTTCTCAGACAAGG	0.463																																						uc003dxi.1		NaN																	0				skin(1)	1						c.(391-393)TTC>TTG		T-cell receptor interacting molecule							112.0	98.0	103.0					3																	108572556		2203	4300	6503	SO:0001583	missense	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108572556C>G	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.393C>G	3.37:g.108572556C>G	ENSP00000295756:p.Phe131Leu					TRAT1_uc010hpx.1_Missense_Mutation_p.F94L	p.F131L	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN			6	537	+			131			Cytoplasmic (Potential).		Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	c.393C>G	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	C	1.925	-0.447470	0.04572	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.36157	1.27;1.73	5.53	-4.52	0.03472	.	2.334730	0.01419	N	0.014307	T	0.07548	0.0190	N	0.00583	-1.355	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33189	-0.9878	10	0.02654	T	1	-15.948	0.5778	0.00706	0.3173:0.1149:0.1982:0.3696	.	94;131	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	L	131;94	ENSP00000295756:F131L;ENSP00000410097:F94L	ENSP00000295756:F131L	F	+	3	2	TRAT1	110055246	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.654000	0.05354	-0.479000	0.06813	-0.147000	0.13772	TTC		0.463	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1		NM_016388		13	59	0	0	0	1	0	13	59		
MORC1	27136	broad.mit.edu	37	3	108724086	108724086	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:108724086G>C	ENST00000483760.1	-	18	1824	c.1781C>G	c.(1780-1782)tCa>tGa	p.S594*	MORC1_ENST00000232603.5_Nonsense_Mutation_p.S615*					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACGGCTCGCTGAAAGCTCAAA	0.358																																						uc003dxl.2		NaN																	0				ovary(3)|skin(3)|breast(2)	8						c.(1843-1845)TCA>TGA		MORC family CW-type zinc finger 1							52.0	53.0	53.0					3																	108724086		2203	4299	6502	SO:0001587	stop_gained	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108724086G>C	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1781C>G	3.37:g.108724086G>C	ENSP00000417282:p.Ser594*					MORC1_uc011bhn.1_Nonsense_Mutation_p.S594*	p.S615*	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			19	1931	-			615						Nonsense_Mutation	SNP	ENST00000483760.1	37	c.1844C>G		.	.	.	.	.	.	.	.	.	.	G	19.64	3.864889	0.71949	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	.	.	.	4.36	1.6	0.23607	.	0.367904	0.20015	N	0.101025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-0.6793	6.345	0.21345	0.3093:0.0:0.6907:0.0	.	.	.	.	X	615;594	.	ENSP00000232603:S615X	S	-	2	0	MORC1	110206776	0.001000	0.12720	0.009000	0.14445	0.001000	0.01503	0.256000	0.18351	0.357000	0.24183	-0.157000	0.13467	TCA		0.358	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1				6	35	0	0	0	1	0	6	35		
SIDT1	54847	broad.mit.edu	37	3	113300209	113300209	+	Splice_Site	SNP	G	G	A	rs35187239		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:113300209G>A	ENST00000264852.4	+	6	1391	c.665G>A	c.(664-666)tGc>tAc	p.C222Y	SIDT1_ENST00000393830.3_Splice_Site_p.C222Y	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	222					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						ATGCTGCAGTGCCCGGTGTAT	0.463																																						uc003eak.2		NaN																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(664-666)TGC>TAC		SID1 transmembrane family, member 1 precursor							174.0	137.0	150.0					3																	113300209		2203	4300	6503	SO:0001630	splice_region_variant	54847					integral to membrane		g.chr3:113300209G>A	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.664-1G>A	3.37:g.113300209G>A						SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.C222Y|SIDT1_uc011big.1_5'UTR	p.C222Y	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN			6	1316	+			222			Extracellular (Potential).		Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.665G>A	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131601	0.56828	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.30981	1.51;1.51	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000002	T	0.62392	0.2424	M	0.87180	2.865	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.70044	-0.4980	10	0.87932	D	0	-19.0842	17.451	0.87592	0.0:0.0:1.0:0.0	.	222	Q9NXL6	SIDT1_HUMAN	Y	222	ENSP00000264852:C222Y;ENSP00000377416:C222Y	ENSP00000264852:C222Y	C	+	2	0	SIDT1	114782899	1.000000	0.71417	1.000000	0.80357	0.361000	0.29550	7.014000	0.76380	2.471000	0.83476	0.591000	0.81541	TGC		0.463	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1		NM_017699	Missense_Mutation	15	39	0	0	0	1	0	15	39		
GRAMD1C	54762	broad.mit.edu	37	3	113627832	113627832	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:113627832G>A	ENST00000358160.4	+	9	1309	c.817G>A	c.(817-819)Gag>Aag	p.E273K	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.E68K|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.E106K|GRAMD1C_ENST00000452134.2_5'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	273						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						GTCCCAAAATGAGAAACAGAC	0.338																																						uc003eaq.3		NaN																	0				ovary(2)|skin(1)	3						c.(817-819)GAG>AAG		GRAM domain containing 1C							70.0	73.0	72.0					3																	113627832		2203	4300	6503	SO:0001583	missense	54762					integral to membrane		g.chr3:113627832G>A		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.817G>A	3.37:g.113627832G>A	ENSP00000350881:p.Glu273Lys					GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA|GRAMD1C_uc003ear.2_Missense_Mutation_p.E106K|GRAMD1C_uc003eas.2_Missense_Mutation_p.E68K	p.E273K	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN			9	893	+			273					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	c.817G>A	CCDS33826.1	.	.	.	.	.	.	.	.	.	.	G	6.498	0.460039	0.12342	.	.	ENSG00000178075	ENST00000358160;ENST00000472026;ENST00000462838;ENST00000440446	T;T;T	0.48201	1.46;0.85;0.82	5.37	3.47	0.39725	.	1.068910	0.07148	N	0.848506	T	0.44371	0.1290	M	0.64404	1.975	0.24625	N	0.993657	B;B	0.18610	0.029;0.024	B;B	0.18561	0.022;0.007	T	0.40040	-0.9584	10	0.12103	T	0.63	.	9.5056	0.39044	0.0816:0.1418:0.7766:0.0	.	106;273	E9PHT3;Q8IYS0	.;GRM1C_HUMAN	K	273;106;68;68	ENSP00000350881:E273K;ENSP00000419132:E106K;ENSP00000408135:E68K	ENSP00000350881:E273K	E	+	1	0	GRAMD1C	115110522	0.957000	0.32711	0.207000	0.23584	0.006000	0.05464	1.584000	0.36589	1.397000	0.46682	0.557000	0.71058	GAG		0.338	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1		NM_017577		12	29	0	0	0	1	0	12	29		
ZNF80	7634	broad.mit.edu	37	3	113955831	113955831	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:113955831C>T	ENST00000482457.2	-	1	594	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	31					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GAGTCACATTCATGGAGATTG	0.507																																					GBM(23;986 1114 21716)	uc010hqo.2		NaN																	0					0						c.(91-93)GAA>AAA		zinc finger protein 80							118.0	113.0	115.0					3																	113955831		2203	4300	6503	SO:0001583	missense	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955831C>T	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.91G>A	3.37:g.113955831C>T	ENSP00000417192:p.Glu31Lys					ZNF80_uc003ebf.2_RNA	p.E31K	NM_007136	NP_009067	P51504	ZNF80_HUMAN			1	595	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	31					Q6NSW4|Q6NT14	Missense_Mutation	SNP	ENST00000482457.2	37	c.91G>A	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	C	9.558	1.117758	0.20877	.	.	ENSG00000174255	ENST00000482457	T	0.25085	1.82	2.88	2.88	0.33553	.	.	.	.	.	T	0.14141	0.0342	N	0.16903	0.455	0.09310	N	1	P	0.43826	0.818	B	0.39419	0.299	T	0.03981	-1.0987	9	0.09590	T	0.72	.	11.9744	0.53083	0.0:1.0:0.0:0.0	.	31	P51504	ZNF80_HUMAN	K	31	ENSP00000417192:E31K	ENSP00000309812:E31K	E	-	1	0	ZNF80	115438521	0.000000	0.05858	0.011000	0.14972	0.134000	0.20937	-0.362000	0.07602	1.923000	0.55706	0.655000	0.94253	GAA		0.507	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2		NM_007136		18	90	0	0	0	1	0	18	90		
C3orf30	152405	broad.mit.edu	37	3	118865552	118865552	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:118865552G>C	ENST00000295622.1	+	1	556	c.516G>C	c.(514-516)caG>caC	p.Q172H	IGSF11_ENST00000354673.2_5'Flank|IGSF11_ENST00000425327.2_5'Flank|IGSF11_ENST00000441144.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	172										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CATCTGACCAGAGAGGTTCCA	0.527																																						uc003ecb.1		NaN																	0				ovary(2)	2						c.(514-516)CAG>CAC		hypothetical protein LOC152405							67.0	69.0	68.0					3																	118865552		2203	4300	6503	SO:0001583	missense	152405							g.chr3:118865552G>C	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.516G>C	3.37:g.118865552G>C	ENSP00000295622:p.Gln172His					IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.Q172H	p.Q172H	NM_152539	NP_689752	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	556	+			172					A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	c.516G>C	CCDS2984.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	7.208|7.208	0.594823|0.594823	0.13875|0.13875	.|.	.|.	ENSG00000163424|ENSG00000163424	ENST00000460150|ENST00000295622;ENST00000470341	.|T	.|0.25579	.|1.79	0.995|0.995	-0.527|-0.527	0.11909|0.11909	.|.	.|1.956250	.|0.02501	.|N	.|0.090488	T|T	0.39306|0.39306	0.1073|0.1073	L|L	0.46157|0.46157	1.445|1.445	0.21527|0.21527	N|N	0.999657|0.999657	.|B;D	.|0.58970	.|0.041;0.984	.|B;D	.|0.65323	.|0.01;0.934	T|T	0.17228|0.17228	-1.0376|-1.0376	5|10	.|0.46703	.|T	.|0.11	.|.	4.3259|4.3259	0.11039|0.11039	0.4786:0.0:0.5214:0.0|0.4786:0.0:0.5214:0.0	.|.	.|172;172	.|E9PFE5;Q96M34	.|.;CC030_HUMAN	Q|H	136|172	.|ENSP00000295622:Q172H	.|ENSP00000295622:Q172H	E|Q	+|+	1|3	0|2	C3orf30|C3orf30	120348242|120348242	0.000000|0.000000	0.05858|0.05858	0.100000|0.100000	0.21137|0.21137	0.045000|0.045000	0.14185|0.14185	-0.194000|-0.194000	0.09559|0.09559	-0.147000|-0.147000	0.11254|0.11254	-0.474000|-0.474000	0.04947|0.04947	GAG|CAG		0.527	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1		NM_152539		24	80	0	0	0	1	0	24	80		
MAATS1	89876	broad.mit.edu	37	3	119469912	119469912	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:119469912G>A	ENST00000273390.5	+	17	2349	c.2272G>A	c.(2272-2274)Gag>Aag	p.E758K	RP11-169N13.4_ENST00000489428.2_RNA|MAATS1_ENST00000472117.1_3'UTR	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	594						mitochondrion (GO:0005739)											CATGTTACTTGAGAAAGAAAC	0.418																																						uc003ede.3		NaN																	0				ovary(2)|pancreas(1)	3						c.(2272-2274)GAG>AAG		AAT1-alpha							123.0	116.0	119.0					3																	119469912		2203	4300	6503	SO:0001583	missense	89876					mitochondrion	protein binding	g.chr3:119469912G>A	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.2272G>A	3.37:g.119469912G>A	ENSP00000273390:p.Glu758Lys					C3orf15_uc010hqz.2_Missense_Mutation_p.E696K|C3orf15_uc011bjd.1_Missense_Mutation_p.E632K|C3orf15_uc011bje.1_Missense_Mutation_p.E738K|C3orf15_uc003edg.3_RNA|C3orf15_uc003edh.3_RNA	p.E758K	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	17	2349	+			594					A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.2272G>A	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.779791	0.49891	.	.	ENSG00000183833	ENST00000273390	T	0.23950	1.88	4.77	-0.67	0.11384	.	0.727389	0.12537	N	0.460271	T	0.15652	0.0377	N	0.25647	0.755	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.003	T	0.21930	-1.0231	10	0.40728	T	0.16	-1.7024	8.0545	0.30598	0.519:0.0:0.481:0.0	.	594;696;758	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	K	758	ENSP00000273390:E758K	ENSP00000273390:E758K	E	+	1	0	C3orf15	120952602	0.023000	0.18921	0.001000	0.08648	0.619000	0.37552	0.836000	0.27545	-0.068000	0.12953	0.591000	0.81541	GAG		0.418	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1		NM_033364		16	62	0	0	0	1	0	16	62		
POLQ	10721	broad.mit.edu	37	3	121207035	121207035	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:121207035C>T	ENST00000264233.5	-	16	4871	c.4743G>A	c.(4741-4743)aaG>aaA	p.K1581K		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1581					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CAGTATGATTCTTCTCTTGGA	0.383								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NaN																	0				ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(4741-4743)AAG>AAA	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							125.0	120.0	122.0					3																	121207035		2203	4300	6503	SO:0001819	synonymous_variant	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121207035C>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4743G>A	3.37:g.121207035C>T						POLQ_uc003eed.2_Silent_p.K753K	p.K1581K	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	4872	-			1581					O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	c.4743G>A	CCDS33833.1																																																																																				0.383	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1		NM_199420		29	83	0	0	0	1	0	29	83		
IQCB1	9657	broad.mit.edu	37	3	121547358	121547358	+	Silent	SNP	C	C	T	rs540671081		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:121547358C>T	ENST00000310864.6	-	4	436	c.222G>A	c.(220-222)caG>caA	p.Q74Q	IQCB1_ENST00000349820.6_Silent_p.Q74Q	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	74					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TCCAACCACCCTGGATTCGAG	0.363													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16417	0.0		0.0	False		,,,				2504	0.0					uc010hre.1		NaN																	0					0						c.(220-222)CAG>CAA		IQ motif containing B1 isoform a							94.0	91.0	92.0					3																	121547358		2203	4300	6503	SO:0001819	synonymous_variant	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121547358C>T	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.222G>A	3.37:g.121547358C>T						IQCB1_uc003eek.2_Silent_p.Q74Q|IQCB1_uc010hrf.1_RNA	p.Q74Q	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	4	437	-			74					Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Silent	SNP	ENST00000310864.6	37	c.222G>A	CCDS33837.1																																																																																				0.363	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1		NM_014642		16	50	0	0	0	1	0	16	50		
IQCB1	9657	broad.mit.edu	37	3	121547744	121547744	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:121547744C>G	ENST00000310864.6	-	3	278	c.64G>C	c.(64-66)Gag>Cag	p.E22Q	IQCB1_ENST00000349820.6_Missense_Mutation_p.E22Q	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	22					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		ACATTCTGCTCAGGGCTTTTT	0.348																																						uc010hre.1		NaN																	0					0						c.(64-66)GAG>CAG		IQ motif containing B1 isoform a							82.0	81.0	81.0					3																	121547744		2203	4300	6503	SO:0001583	missense	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121547744C>G	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.64G>C	3.37:g.121547744C>G	ENSP00000311505:p.Glu22Gln					IQCB1_uc003eek.2_Missense_Mutation_p.E22Q|IQCB1_uc010hrf.1_RNA	p.E22Q	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	3	279	-			22					Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	37	c.64G>C	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.009305	0.75046	.	.	ENSG00000173226	ENST00000310864;ENST00000349820;ENST00000462442	T;T;T	0.08370	3.1;3.1;3.1	5.35	5.35	0.76521	.	0.119962	0.56097	D	0.000036	T	0.17789	0.0427	L	0.27053	0.805	0.25895	N	0.983429	D;D	0.76494	0.981;0.999	D;D	0.83275	0.954;0.996	T	0.02345	-1.1173	10	0.66056	D	0.02	-15.132	14.4364	0.67284	0.0:1.0:0.0:0.0	.	22;22	Q15051;Q15051-2	IQCB1_HUMAN;.	Q	22	ENSP00000311505:E22Q;ENSP00000323756:E22Q;ENSP00000419376:E22Q	ENSP00000311505:E22Q	E	-	1	0	IQCB1	123030434	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.320000	0.59203	2.789000	0.95967	0.655000	0.94253	GAG		0.348	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1		NM_014642		8	38	0	0	0	1	0	8	38		
IQCB1	9657	broad.mit.edu	37	3	121547781	121547781	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:121547781C>A	ENST00000310864.6	-	3	241	c.27G>T	c.(25-27)agG>agT	p.R9S	IQCB1_ENST00000349820.6_Missense_Mutation_p.R9S	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	9					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TAGATAAGATCCTTGGGTCTG	0.348																																						uc010hre.1		NaN																	0					0						c.(25-27)AGG>AGT		IQ motif containing B1 isoform a							80.0	79.0	79.0					3																	121547781		2203	4300	6503	SO:0001583	missense	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121547781C>A	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.27G>T	3.37:g.121547781C>A	ENSP00000311505:p.Arg9Ser					IQCB1_uc003eek.2_Missense_Mutation_p.R9S|IQCB1_uc010hrf.1_RNA	p.R9S	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	3	242	-			9					Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	37	c.27G>T	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459053	0.63401	.	.	ENSG00000173226	ENST00000310864;ENST00000349820;ENST00000462442	T;T;T	0.09817	2.94;2.94;2.94	5.35	1.64	0.23874	.	0.106561	0.64402	D	0.000005	T	0.17619	0.0423	L	0.32530	0.975	0.24345	N	0.994948	D;D	0.76494	0.967;0.999	D;D	0.80764	0.916;0.994	T	0.03641	-1.1017	10	0.87932	D	0	-13.5872	6.9471	0.24524	0.0:0.6392:0.0:0.3608	.	9;9	Q15051;Q15051-2	IQCB1_HUMAN;.	S	9	ENSP00000311505:R9S;ENSP00000323756:R9S;ENSP00000419376:R9S	ENSP00000311505:R9S	R	-	3	2	IQCB1	123030471	0.995000	0.38212	0.999000	0.59377	0.995000	0.86356	0.054000	0.14205	0.127000	0.18452	0.655000	0.94253	AGG		0.348	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1		NM_014642		6	40	1	0	0.00116845	1	0.001181	6	40		
KALRN	8997	broad.mit.edu	37	3	123987853	123987853	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:123987853G>A	ENST00000240874.3	+	5	871	c.714G>A	c.(712-714)ctG>ctA	p.L238L	KALRN_ENST00000360013.3_Silent_p.L238L|KALRN_ENST00000460856.1_Silent_p.L238L	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	238					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)			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						AAAAGGTGCTGAAGGCCCCTG	0.627																																						uc003ehg.2		NaN																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(712-714)CTG>CTA		kalirin, RhoGEF kinase isoform 1							25.0	24.0	24.0					3																	123987853		2203	4300	6503	SO:0001819	synonymous_variant	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.chr3:123987853G>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	ENST00000240874.3:c.714G>A	3.37:g.123987853G>A						KALRN_uc010hrv.1_Silent_p.L238L|KALRN_uc003ehf.1_Silent_p.L238L|KALRN_uc011bjy.1_Silent_p.L238L	p.L238L	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			5	841	+			238			Spectrin 1.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	c.714G>A	CCDS3027.1																																																																																				0.627	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4		NM_003947		11	32	0	0	0	1	0	11	32		
PLXNA1	5361	broad.mit.edu	37	3	126722265	126722265	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:126722265C>T	ENST00000393409.2	+	3	1470	c.1470C>T	c.(1468-1470)ctC>ctT	p.L490L	PLXNA1_ENST00000251772.4_Silent_p.L467L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	490	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGCGAGACCTCGTCCTCAGCC	0.672																																						uc003ejg.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1399-1401)CTC>CTT		plexin A1							80.0	71.0	74.0					3																	126722265		2202	4300	6502	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126722265C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.1470C>T	3.37:g.126722265C>T							p.L467L	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	3	1405	+			490			Sema.|Extracellular (Potential).			Silent	SNP	ENST00000393409.2	37	c.1401C>T	CCDS33847.2																																																																																				0.672	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1		NM_032242		25	63	0	0	0	1	0	25	63		
PIK3R4	30849	broad.mit.edu	37	3	130464012	130464012	+	Missense_Mutation	SNP	C	C	G	rs143147652		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:130464012C>G	ENST00000356763.3	-	2	608	c.51G>C	c.(49-51)gaG>gaC	p.E17D		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	17					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AAAAATAACTCTCTACAGAAA	0.438																																						uc003enj.2		NaN																	0				ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(49-51)GAG>GAC		phosphoinositide-3-kinase, regulatory subunit 4		C	ASP/GLU	0,4116		0,0,2058	38.0	39.0	39.0		51	4.2	1.0	3	dbSNP_134	39	1,8485		0,1,4242	no	missense	PIK3R4	NM_014602.2	45	0,1,6300	GG,GC,CC		0.0118,0.0,0.0079	benign	17/1359	130464012	1,12601	2058	4243	6301	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130464012C>G	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.51G>C	3.37:g.130464012C>G	ENSP00000349205:p.Glu17Asp						p.E17D	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			2	632	-			17					Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.51G>C	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190202	0.38707	0.0	1.18E-4	ENSG00000196455	ENST00000356763	T	0.06933	3.24	5.12	4.18	0.49190	Protein kinase-like domain (1);	0.047985	0.85682	D	0.000000	T	0.06872	0.0175	L	0.31157	0.91	0.53005	D	0.999963	B	0.09022	0.002	B	0.13407	0.009	T	0.31110	-0.9955	10	0.22109	T	0.4	-28.5887	12.4409	0.55623	0.0:0.5892:0.4108:0.0	.	17	Q99570	PI3R4_HUMAN	D	17	ENSP00000349205:E17D	ENSP00000349205:E17D	E	-	3	2	PIK3R4	131946702	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.958000	0.70330	2.551000	0.86045	0.491000	0.48974	GAG		0.438	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1		NM_014602		15	40	0	0	0	1	0	15	40		
ACPP	55	broad.mit.edu	37	3	132051183	132051183	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:132051183G>T	ENST00000336375.5	+	4	541	c.451G>T	c.(451-453)Gat>Tat	p.D151Y	ACPP_ENST00000489084.1_3'UTR|ACPP_ENST00000475741.1_Missense_Mutation_p.D151Y|ACPP_ENST00000351273.7_Missense_Mutation_p.D151Y	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	151					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TCTTTCTGAAGATCAGGTCAG	0.517																																						uc010htp.2		NaN																	0				ovary(1)	1						c.(451-453)GAT>TAT		acid phosphatase, prostate short isoform							69.0	61.0	64.0					3																	132051183		2203	4300	6503	SO:0001583	missense	55					extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	g.chr3:132051183G>T		CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.451G>T	3.37:g.132051183G>T	ENSP00000337471:p.Asp151Tyr					ACPP_uc003eon.3_Missense_Mutation_p.D151Y|ACPP_uc003eop.3_Missense_Mutation_p.D151Y	p.D151Y	NM_001099	NP_001090	P15309	PPAP_HUMAN			4	541	+			151					D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Missense_Mutation	SNP	ENST00000336375.5	37	c.451G>T	CCDS3073.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.653483	0.67472	.	.	ENSG00000014257	ENST00000336375;ENST00000495911;ENST00000475741;ENST00000351273	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.99	5.99	0.97316	.	0.000000	0.64402	D	0.000001	T	0.67664	0.2917	H	0.95850	3.73	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;0.997	T	0.76903	-0.2787	10	0.87932	D	0	.	13.2316	0.59947	0.0757:0.0:0.9243:0.0	.	151;151;151	P15309;P15309-2;Q5FBY0	PPAP_HUMAN;.;.	Y	151;122;151;151	ENSP00000337471:D151Y;ENSP00000418366:D122Y;ENSP00000417744:D151Y;ENSP00000323036:D151Y	ENSP00000337471:D151Y	D	+	1	0	ACPP	133533873	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	6.211000	0.72182	2.840000	0.97914	0.655000	0.94253	GAT		0.517	ACPP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356699.2		NM_001099		12	44	1	0	6.40141e-05	1	6.50516e-05	12	44		
AMOTL2	51421	broad.mit.edu	37	3	134080563	134080563	+	Missense_Mutation	SNP	C	C	T	rs554840600		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:134080563C>T	ENST00000422605.2	-	6	1532	c.1366G>A	c.(1366-1368)Gag>Aag	p.E456K	AMOTL2_ENST00000514516.1_Missense_Mutation_p.E514K|AMOTL2_ENST00000249883.5_Missense_Mutation_p.E456K|AMOTL2_ENST00000513145.1_Missense_Mutation_p.E456K			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	456					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						TCCAGCAGCTCGGCACGCCGC	0.652																																						uc003eqf.2		NaN																	0				large_intestine(1)	1						c.(1540-1542)GAG>AAG		angiomotin like 2							12.0	13.0	12.0					3																	134080563		2196	4286	6482	SO:0001583	missense	51421							g.chr3:134080563C>T	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.1366G>A	3.37:g.134080563C>T	ENSP00000409999:p.Glu456Lys					AMOTL2_uc003eqg.1_Missense_Mutation_p.E456K|AMOTL2_uc003eqh.1_Missense_Mutation_p.E456K|AMOTL2_uc003eqe.1_Missense_Mutation_p.E81K	p.E514K	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN			6	1657	-			456			Potential.		A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	ENST00000422605.2	37	c.1540G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.677346	0.96764	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	5.32	5.32	0.75619	.	0.048007	0.85682	D	0.000000	T	0.50599	0.1625	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.996	T	0.40869	-0.9540	10	0.48119	T	0.1	-30.6254	19.1782	0.93612	0.0:1.0:0.0:0.0	.	456;456;514	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	K	456;456;514;456	ENSP00000249883:E456K;ENSP00000409999:E456K;ENSP00000424765:E514K;ENSP00000425475:E456K	ENSP00000249883:E456K	E	-	1	0	AMOTL2	135563253	1.000000	0.71417	0.956000	0.39512	0.986000	0.74619	5.810000	0.69179	2.769000	0.95229	0.563000	0.77884	GAG		0.652	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1		NM_016201		13	33	0	0	0	1	0	13	33		
PPP2R3A	5523	broad.mit.edu	37	3	135720716	135720716	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:135720716G>C	ENST00000264977.3	+	2	993	c.376G>C	c.(376-378)Gaa>Caa	p.E126Q	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	126					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAAAATAAAAGAATTTTCCTT	0.378																																						uc003eqv.1		NaN																	0				ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						c.(376-378)GAA>CAA		protein phosphatase 2, regulatory subunit B'',							46.0	48.0	48.0					3																	135720716		2203	4300	6503	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135720716G>C	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.376G>C	3.37:g.135720716G>C	ENSP00000264977:p.Glu126Gln					PPP2R3A_uc011blz.1_Intron	p.E126Q	NM_002718	NP_002709	Q06190	P2R3A_HUMAN			2	941	+			126					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.376G>C	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.773711	0.69992	.	.	ENSG00000073711	ENST00000264977	T	0.13778	2.56	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.38134	0.1029	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.03139	-1.1068	10	0.87932	D	0	.	19.0707	0.93134	0.0:0.0:1.0:0.0	.	126	Q06190	P2R3A_HUMAN	Q	126	ENSP00000264977:E126Q	ENSP00000264977:E126Q	E	+	1	0	PPP2R3A	137203406	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.746000	0.94184	0.655000	0.94253	GAA		0.378	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1		NM_002718		5	27	0	0	0	1	0	5	27		
ZBTB38	253461	broad.mit.edu	37	3	141161785	141161785	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:141161785G>C	ENST00000514251.1	+	4	834	c.555G>C	c.(553-555)ttG>ttC	p.L185F	ZBTB38_ENST00000321464.5_Missense_Mutation_p.L186F|ZBTB38_ENST00000441582.2_Missense_Mutation_p.L185F					zinc finger and BTB domain containing 38									p.L185F(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CGCTGGACTTGAGGGCAAGTT	0.498																																						uc003etw.2		NaN																	1	Substitution - Missense(1)		kidney(1)	ovary(3)	3						c.(553-555)TTG>TTC		zinc finger and BTB domain containing 38							90.0	85.0	86.0					3																	141161785		1967	4150	6117	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141161785G>C	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.555G>C	3.37:g.141161785G>C	ENSP00000426387:p.Leu185Phe					ZBTB38_uc010hun.2_Missense_Mutation_p.L182F|ZBTB38_uc010huo.2_Missense_Mutation_p.L185F|ZBTB38_uc003ety.2_Missense_Mutation_p.L185F|ZBTB38_uc010hup.2_Missense_Mutation_p.L186F	p.L185F	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN			8	1537	+			185						Missense_Mutation	SNP	ENST00000514251.1	37	c.555G>C	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872284	0.51695	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464;ENST00000510726	T;T;T;T;T	0.80304	3.2;2.78;2.78;2.78;-1.36	5.42	3.57	0.40892	.	0.176412	0.37437	N	0.002084	T	0.75034	0.3795	L	0.32530	0.975	0.38463	D	0.947265	D;D	0.53312	0.959;0.959	P;P	0.49085	0.6;0.6	T	0.74884	-0.3512	9	.	.	.	-13.6018	11.1471	0.48436	0.0688:0.2412:0.69:0.0	.	186;185	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	F	185;185;185;186;185	ENSP00000424254:L185F;ENSP00000426387:L185F;ENSP00000406955:L185F;ENSP00000372635:L186F;ENSP00000422081:L185F	.	L	+	3	2	ZBTB38	142644475	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.083000	0.41615	1.389000	0.46526	0.591000	0.81541	TTG		0.498	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2				24	122	0	0	0	1	0	24	122		
RASA2	5922	broad.mit.edu	37	3	141272699	141272699	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:141272699C>T	ENST00000452898.1	+	6	563	c.528C>T	c.(526-528)caC>caT	p.H176H	RASA2_ENST00000286364.3_Splice_Site_p.H176H	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	176	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TCTACCTTAGCATCAAGGCAT	0.333																																						uc003etz.1		NaN																	0				ovary(2)|lung(2)|breast(1)|skin(1)	6						c.(526-528)CAC>CAT		RAS p21 protein activator 2							110.0	110.0	110.0					3																	141272699		2203	4300	6503	SO:0001630	splice_region_variant	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141272699C>T	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.528-1C>T	3.37:g.141272699C>T						RASA2_uc010huq.1_Silent_p.H176H|RASA2_uc003eua.1_Silent_p.H176H|RASA2_uc011bnc.1_5'UTR	p.H176H	NM_006506	NP_006497	Q15283	RASA2_HUMAN			6	528	+			176			C2 2.		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Silent	SNP	ENST00000452898.1	37	c.528C>T																																																																																					0.333	RASA2-201	KNOWN	basic	protein_coding	protein_coding			NM_006506	Silent	19	62	0	0	0	1	0	19	62		
RASA2	5922	broad.mit.edu	37	3	141328358	141328358	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:141328358G>A	ENST00000452898.1	+	22	2360	c.2325G>A	c.(2323-2325)aaG>aaA	p.K775K	RASA2_ENST00000286364.3_Silent_p.K774K|RASA2_ENST00000509118.1_3'UTR	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	775					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AGCTGCAGAAGATGGAAGGTA	0.313																																						uc003etz.1		NaN																	0		p.K774R(1)		ovary(2)|lung(2)|breast(1)|skin(1)	6						c.(2320-2322)AAG>AAA		RAS p21 protein activator 2							72.0	75.0	74.0					3																	141328358		2203	4295	6498	SO:0001819	synonymous_variant	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141328358G>A	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.2325G>A	3.37:g.141328358G>A						RASA2_uc010huq.1_Silent_p.K778K|RASA2_uc003eua.1_Silent_p.K775K	p.K774K	NM_006506	NP_006497	Q15283	RASA2_HUMAN			22	2322	+			774					A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Silent	SNP	ENST00000452898.1	37	c.2322G>A																																																																																					0.313	RASA2-201	KNOWN	basic	protein_coding	protein_coding			NM_006506		16	27	0	0	0	1	0	16	27		
PLSCR1	5359	broad.mit.edu	37	3	146234923	146234923	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:146234923C>T	ENST00000342435.4	-	8	1180	c.770G>A	c.(769-771)gGc>gAc	p.G257D	PLSCR1_ENST00000487389.1_Missense_Mutation_p.G250D|PLSCR1_ENST00000448787.2_Missense_Mutation_p.G176D|PLSCR1_ENST00000448205.1_5'UTR|PLSCR1_ENST00000484560.1_5'UTR	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	257					acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						GGAAATTTTGCCAACCACACA	0.318																																						uc003evx.3		NaN																	0				ovary(2)	2						c.(769-771)GGC>GAC		phospholipid scramblase 1							79.0	78.0	78.0					3																	146234923		2203	4300	6503	SO:0001583	missense	5359				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:146234923C>T	AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.770G>A	3.37:g.146234923C>T	ENSP00000345494:p.Gly257Asp					PLSCR1_uc003evy.3_Missense_Mutation_p.G250D|PLSCR1_uc011bnn.1_Missense_Mutation_p.G176D|PLSCR1_uc003evz.3_RNA	p.G257D	NM_021105	NP_066928	O15162	PLS1_HUMAN			8	1158	-			257			Cytoplasmic.		B2R8H8|B4DTE8	Missense_Mutation	SNP	ENST00000342435.4	37	c.770G>A	CCDS3135.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	18.32|18.32	3.597801|3.597801	0.66332|0.66332	.|.	.|.	ENSG00000188313|ENSG00000188313	ENST00000483300|ENST00000342435;ENST00000487389;ENST00000448787;ENST00000462666	.|T;T;T;T	.|0.35789	.|1.45;1.45;1.45;1.29	4.85|4.85	2.96|2.96	0.34315|0.34315	.|.	.|0.000000	.|0.36002	.|U	.|0.002849	T|T	0.70850|0.70850	0.3271|0.3271	H|H	0.97659|0.97659	4.05|4.05	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.78033|0.78033	-0.2362|-0.2362	5|10	.|0.87932	.|D	.|0	.|.	11.4931|11.4931	0.50391|0.50391	0.1416:0.7222:0.1362:0.0|0.1416:0.7222:0.1362:0.0	.|.	.|176;257	.|B4DTE8;O15162	.|.;PLS1_HUMAN	T|D	124|257;250;176;233	.|ENSP00000345494:G257D;ENSP00000417792:G250D;ENSP00000411675:G176D;ENSP00000418103:G233D	.|ENSP00000345494:G257D	A|G	-|-	1|2	0|0	PLSCR1|PLSCR1	147717613|147717613	1.000000|1.000000	0.71417|0.71417	0.852000|0.852000	0.33557|0.33557	0.751000|0.751000	0.42716|0.42716	7.407000|7.407000	0.80029|0.80029	0.507000|0.507000	0.28148|0.28148	0.561000|0.561000	0.74099|0.74099	GCA|GGC		0.318	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355257.2		NM_021105		4	68	0	0	0	1	0	4	68		
HPS3	84343	broad.mit.edu	37	3	148871318	148871318	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:148871318G>C	ENST00000296051.2	+	7	1423	c.1283G>C	c.(1282-1284)aGa>aCa	p.R428T	HPS3_ENST00000460120.1_Missense_Mutation_p.R263T	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	428					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGTGCTTTAAGAATACAGCTT	0.378									Hermansky-Pudlak syndrome																													uc003ewu.1		NaN																	0				ovary(5)|large_intestine(1)	6						c.(1282-1284)AGA>ACA		Hermansky-Pudlak syndrome 3 protein							162.0	157.0	159.0					3																	148871318		2203	4300	6503	SO:0001583	missense	84343	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148871318G>C	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1283G>C	3.37:g.148871318G>C	ENSP00000296051:p.Arg428Thr					HPS3_uc003ewt.1_Missense_Mutation_p.R428T|HPS3_uc011bnq.1_Missense_Mutation_p.R263T	p.R428T	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		7	1423	+			428					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.1283G>C	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462925	0.84425	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.65732	-0.17;-0.17	5.97	5.97	0.96955	.	0.141387	0.53938	D	0.000041	T	0.79347	0.4430	M	0.70275	2.135	0.52099	D	0.999942	D;D	0.76494	0.999;0.997	D;D	0.68353	0.957;0.928	T	0.78132	-0.2323	10	0.52906	T	0.07	-10.1757	20.4136	0.99023	0.0:0.0:1.0:0.0	.	263;428	G5E9V4;Q969F9	.;HPS3_HUMAN	T	428;263	ENSP00000296051:R428T;ENSP00000418230:R263T	ENSP00000296051:R428T	R	+	2	0	HPS3	150354008	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.728000	0.84847	2.819000	0.97034	0.655000	0.94253	AGA		0.378	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1		NM_032383		28	61	0	0	0	1	0	28	61		
TM4SF4	7104	broad.mit.edu	37	3	149205479	149205479	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:149205479C>T	ENST00000305354.4	+	3	1242	c.338C>T	c.(337-339)tCa>tTa	p.S113L		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	113					tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCAGCCATTTCAATCAACAAG	0.502																																						uc003exd.1		NaN																	0					0						c.(337-339)TCA>TTA		transmembrane 4 superfamily member 4							155.0	147.0	150.0					3																	149205479		1941	4151	6092	SO:0001583	missense	7104					integral to membrane		g.chr3:149205479C>T		CCDS46932.1	3q25	2005-03-21	2005-03-21		ENSG00000169903	ENSG00000169903			11856	protein-coding gene	gene with protein product		606567	"""transmembrane 4 superfamily member 4"""			7665614	Standard	NM_004617		Approved	il-TMP	uc003exd.2	P48230	OTTHUMG00000159619	ENST00000305354.4:c.338C>T	3.37:g.149205479C>T	ENSP00000305852:p.Ser113Leu						p.S113L	NM_004617	NP_004608	P48230	T4S4_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		3	569	+			113			Helical; (Potential).		B2RDA4	Missense_Mutation	SNP	ENST00000305354.4	37	c.338C>T	CCDS46932.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518321	0.85495	.	.	ENSG00000169903	ENST00000305354	T	0.32753	1.44	5.7	5.7	0.88788	.	0.206491	0.49916	D	0.000129	T	0.39989	0.1099	L	0.60455	1.87	0.09310	N	0.999999	P	0.44521	0.837	P	0.44673	0.457	T	0.38373	-0.9664	10	0.87932	D	0	.	18.4049	0.90532	0.0:1.0:0.0:0.0	.	113	P48230	T4S4_HUMAN	L	113	ENSP00000305852:S113L	ENSP00000305852:S113L	S	+	2	0	TM4SF4	150688169	0.611000	0.26992	0.038000	0.18304	0.985000	0.73830	5.321000	0.65846	2.683000	0.91414	0.655000	0.94253	TCA		0.502	TM4SF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356528.1				19	62	0	0	0	1	0	19	62		
RNF13	11342	broad.mit.edu	37	3	149678634	149678634	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:149678634G>A	ENST00000344229.3	+	11	1591	c.889G>A	c.(889-891)Gac>Aac	p.D297N	RNF13_ENST00000392894.3_Missense_Mutation_p.D297N|RNF13_ENST00000361785.6_Missense_Mutation_p.D178N	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	297					protein autoubiquitination (GO:0051865)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTCTGACACAGACAGTAGTCA	0.448																																						uc003exn.3		NaN																	0				ovary(1)	1						c.(889-891)GAC>AAC		ring finger protein 13							100.0	88.0	92.0					3																	149678634		2203	4300	6503	SO:0001583	missense	11342				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:149678634G>A	AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996		"""RING-type (C3HC4) zinc fingers"""	10057	protein-coding gene	gene with protein product		609247					Standard	NM_183381		Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.889G>A	3.37:g.149678634G>A	ENSP00000341361:p.Asp297Asn					RNF13_uc003exp.3_Missense_Mutation_p.D297N|RNF13_uc010hvh.2_Missense_Mutation_p.D178N	p.D297N	NM_007282	NP_009213	O43567	RNF13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		11	1673	+		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	297			Cytoplasmic (Potential).		A6NC87|B3KR12|Q05D66|Q6IBJ9	Missense_Mutation	SNP	ENST00000344229.3	37	c.889G>A	CCDS3146.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.89|17.89	3.499700|3.499700	0.64298|0.64298	.|.	.|.	ENSG00000082996|ENSG00000082996	ENST00000392894;ENST00000344229;ENST00000491086;ENST00000361785;ENST00000482083|ENST00000468289	T;T;T;T;T|.	0.13657|.	3.58;3.58;2.6;2.57;2.6|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.138749|.	0.64402|.	D|.	0.000004|.	T|T	0.53110|0.53110	0.1776|0.1776	N|N	0.13299|0.13299	0.325|0.325	0.80722|0.80722	D|D	1|1	D;B|.	0.67145|.	0.996;0.029|.	P;B|.	0.59546|.	0.859;0.01|.	T|T	0.44205|0.44205	-0.9343|-0.9343	10|5	0.27082|.	T|.	0.32|.	-25.7415|-25.7415	20.6397|20.6397	0.99537|0.99537	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	178;297|.	B3KR12;O43567|.	.;RNF13_HUMAN|.	N|K	297;297;178;178;178|98	ENSP00000376628:D297N;ENSP00000341361:D297N;ENSP00000420667:D178N;ENSP00000355268:D178N;ENSP00000418863:D178N|.	ENSP00000341361:D297N|.	D|R	+|+	1|2	0|0	RNF13|RNF13	151161324|151161324	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.787000|0.787000	0.44495|0.44495	9.476000|9.476000	0.97823|0.97823	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	GAC|AGA		0.448	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356876.1		NM_183384		20	61	0	0	0	1	0	20	61		
TSC22D2	9819	broad.mit.edu	37	3	150127514	150127514	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:150127514C>G	ENST00000361875.3	+	1	1393	c.377C>G	c.(376-378)aCt>aGt	p.T126S	TSC22D2_ENST00000361136.2_Missense_Mutation_p.T126S	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	126					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GCGGCTGCCACTTCGGCCCCC	0.741																																						uc003exv.2		NaN																	0				ovary(1)	1						c.(376-378)ACT>AGT		TSC22 domain family, member 2							7.0	10.0	9.0					3																	150127514		1607	3398	5005	SO:0001583	missense	9819						sequence-specific DNA binding transcription factor activity	g.chr3:150127514C>G	AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.377C>G	3.37:g.150127514C>G	ENSP00000354543:p.Thr126Ser					TSC22D2_uc003exw.2_RNA|TSC22D2_uc003exx.2_Missense_Mutation_p.T126S	p.T126S	NM_014779	NP_055594	O75157	T22D2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		1	727	+			126					D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	ENST00000361875.3	37	c.377C>G	CCDS3149.1	.	.	.	.	.	.	.	.	.	.	c	8.316	0.823270	0.16678	.	.	ENSG00000196428	ENST00000361875;ENST00000361136	T;T	0.29655	1.58;1.56	3.99	3.08	0.35506	.	0.613654	0.12672	U	0.448649	T	0.19005	0.0456	N	0.19112	0.55	0.09310	N	1	B;B	0.18741	0.03;0.018	B;B	0.19391	0.025;0.011	T	0.22277	-1.0221	10	0.09084	T	0.74	.	12.3151	0.54951	0.0:0.8273:0.1727:0.0	.	126;126	O75157-2;O75157	.;T22D2_HUMAN	S	126	ENSP00000354543:T126S;ENSP00000354893:T126S	ENSP00000354893:T126S	T	+	2	0	TSC22D2	151610204	0.000000	0.05858	0.029000	0.17559	0.841000	0.47740	0.647000	0.24812	0.759000	0.33084	0.645000	0.84053	ACT		0.741	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2		NM_014779		23	47	0	0	0	1	0	23	47		
MED12L	116931	broad.mit.edu	37	3	150840608	150840608	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:150840608G>A	ENST00000474524.1	+	3	281	c.243G>A	c.(241-243)ctG>ctA	p.L81L	MED12L_ENST00000422248.2_Silent_p.L81L|MED12L_ENST00000309237.4_Silent_p.L81L|MED12L_ENST00000273432.4_Silent_p.L81L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	81						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGAGAAACTGAAGCTTAACA	0.378																																						uc003eyp.2		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(241-243)CTG>CTA		mediator of RNA polymerase II transcription,							71.0	63.0	66.0					3																	150840608		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150840608G>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.243G>A	3.37:g.150840608G>A						MED12L_uc011bnz.1_Silent_p.L81L|MED12L_uc003eym.1_Silent_p.L81L|MED12L_uc003eyn.2_Silent_p.L81L|MED12L_uc003eyo.2_Silent_p.L81L	p.L81L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	281	+			81					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.243G>A	CCDS33876.1																																																																																				0.378	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2		NM_053002		4	28	0	0	0	1	0	4	28		
MED12L	116931	broad.mit.edu	37	3	150840663	150840663	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:150840663G>C	ENST00000474524.1	+	3	336	c.298G>C	c.(298-300)Gat>Cat	p.D100H	MED12L_ENST00000422248.2_Missense_Mutation_p.D100H|MED12L_ENST00000309237.4_Missense_Mutation_p.D100H|MED12L_ENST00000273432.4_Missense_Mutation_p.D100H	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	100						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAATGCTAAAGATAATTATTG	0.388																																						uc003eyp.2		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(298-300)GAT>CAT		mediator of RNA polymerase II transcription,							73.0	69.0	70.0					3																	150840663		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150840663G>C	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.298G>C	3.37:g.150840663G>C	ENSP00000417235:p.Asp100His					MED12L_uc011bnz.1_Missense_Mutation_p.D100H|MED12L_uc003eym.1_Missense_Mutation_p.D100H|MED12L_uc003eyn.2_Missense_Mutation_p.D100H|MED12L_uc003eyo.2_Missense_Mutation_p.D100H	p.D100H	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	336	+			100					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.298G>C	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019939	0.93462	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.61742	0.38;0.36;0.27;0.08	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.75443	0.3850	L	0.61218	1.895	0.44966	D	0.997987	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.995;0.999;0.998	T	0.76675	-0.2872	10	0.87932	D	0	-20.3161	19.3489	0.94376	0.0:0.0:1.0:0.0	.	100;100;100;100	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	H	100	ENSP00000403308:D100H;ENSP00000310760:D100H;ENSP00000417235:D100H;ENSP00000273432:D100H	ENSP00000273432:D100H	D	+	1	0	MED12L	152323353	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.370000	0.97159	2.690000	0.91761	0.655000	0.94253	GAT		0.388	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2		NM_053002		4	19	0	0	0	1	0	4	19		
IGSF10	285313	broad.mit.edu	37	3	151165065	151165065	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:151165065C>T	ENST00000282466.3	-	4	2703	c.2704G>A	c.(2704-2706)Gaa>Aaa	p.E902K		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	902					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCCTGAAATTCAGTTGCTCCA	0.413																																						uc011bod.1		NaN																	0				skin(7)|ovary(5)|central_nervous_system(1)	13						c.(2704-2706)GAA>AAA		immunoglobulin superfamily, member 10 precursor							315.0	314.0	314.0					3																	151165065		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151165065C>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2704G>A	3.37:g.151165065C>T	ENSP00000282466:p.Glu902Lys						p.E902K	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	2704	-			902					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.2704G>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	4.054	0.007795	0.07866	.	.	ENSG00000152580	ENST00000282466	T	0.67345	-0.26	4.72	0.676	0.17958	.	1.055240	0.07491	N	0.905569	T	0.36441	0.0967	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22556	-1.0213	10	0.07644	T	0.81	.	0.9936	0.01462	0.177:0.3126:0.2574:0.253	.	902	Q6WRI0	IGS10_HUMAN	K	902	ENSP00000282466:E902K	ENSP00000282466:E902K	E	-	1	0	IGSF10	152647755	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.135000	0.15952	0.129000	0.18514	0.591000	0.81541	GAA		0.413	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1		NM_178822		74	251	0	0	0	1	0	74	251		
DHX36	170506	broad.mit.edu	37	3	154002700	154002700	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:154002700C>T	ENST00000496811.1	-	18	2188	c.2108G>A	c.(2107-2109)gGa>gAa	p.G703E	DHX36_ENST00000308361.6_Missense_Mutation_p.G703E|DHX36_ENST00000329463.5_Missense_Mutation_p.G689E|DHX36_ENST00000544526.1_Missense_Mutation_p.G689E	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	703					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AATCATTTTTCCAATATGTGG	0.418																																						uc003ezy.3		NaN																	0				skin(1)	1						c.(2107-2109)GGA>GAA		DEAH (Asp-Glu-Ala-His) box polypeptide 36							119.0	112.0	114.0					3																	154002700		2203	4300	6503	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154002700C>T	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.2108G>A	3.37:g.154002700C>T	ENSP00000417078:p.Gly703Glu					DHX36_uc010hvq.2_Missense_Mutation_p.G689E|DHX36_uc003ezz.3_Missense_Mutation_p.G703E	p.G703E	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		18	2189	-			703					B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.2108G>A	CCDS3171.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.237527|5.237527	0.95240|0.95240	.|.	.|.	ENSG00000174953|ENSG00000174953	ENST00000469977|ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	.|T;T;T;T;T	.|0.37411	.|1.2;1.2;1.2;1.2;1.2	5.56|5.56	5.56|5.56	0.83823|0.83823	.|Helicase-associated domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77068|0.77068	0.4076|0.4076	H|H	0.98594|0.98594	4.275|4.275	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;0.999;1.0	D|D	0.86279|0.86279	0.1666|0.1666	5|10	.|0.87932	.|D	.|0	.|.	19.5978|19.5978	0.95548|0.95548	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|689;703;703	.|Q9H2U1-2;Q9H2U1-3;Q9H2U1	.|.;.;DHX36_HUMAN	K|E	150|703;703;689;689;617	.|ENSP00000417078:G703E;ENSP00000309296:G703E;ENSP00000444247:G689E;ENSP00000330113:G689E;ENSP00000419862:G617E	.|ENSP00000309296:G703E	E|G	-|-	1|2	0|0	DHX36|DHX36	155485394|155485394	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.999000|0.999000	0.98932|0.98932	7.662000|7.662000	0.83803|0.83803	2.642000|2.642000	0.89623|0.89623	0.650000|0.650000	0.86243|0.86243	GAA|GGA		0.418	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1		NM_020865		22	57	0	0	0	1	0	22	57		
MME	4311	broad.mit.edu	37	3	154862187	154862187	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:154862187C>G	ENST00000460393.1	+	14	1477	c.1357C>G	c.(1357-1359)Cag>Gag	p.Q453E	MME_ENST00000360490.2_Missense_Mutation_p.Q453E|MME_ENST00000492661.1_Missense_Mutation_p.Q453E|MME_ENST00000462745.1_Missense_Mutation_p.Q453E|MME_ENST00000493237.1_Missense_Mutation_p.Q453E	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	453					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	AGTTTTTATTCAGACTTTAGA	0.363																																						uc010hvr.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1357-1359)CAG>GAG		membrane metallo-endopeptidase	Candoxatril(DB00616)						97.0	100.0	99.0					3																	154862187		2203	4300	6503	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154862187C>G		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1357C>G	3.37:g.154862187C>G	ENSP00000418525:p.Gln453Glu					MME_uc003fab.1_Missense_Mutation_p.Q453E|MME_uc003fac.1_Missense_Mutation_p.Q453E|MME_uc003fad.1_Missense_Mutation_p.Q453E|MME_uc003fae.1_Missense_Mutation_p.Q453E	p.Q453E	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		14	1568	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	453			Extracellular (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.1357C>G	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	C	1.469	-0.560435	0.03939	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59	5.91	3.94	0.45596	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.314346	0.37955	N	0.001863	T	0.27098	0.0664	N	0.00191	-1.88	0.29115	N	0.880588	B	0.02656	0.0	B	0.01281	0.0	T	0.36792	-0.9733	10	0.02654	T	1	-5.059	9.3829	0.38325	0.3327:0.4764:0.1909:0.0	.	453	P08473	NEP_HUMAN	E	453	ENSP00000420389:Q453E;ENSP00000418525:Q453E;ENSP00000419653:Q453E;ENSP00000417079:Q453E;ENSP00000353679:Q453E	ENSP00000353679:Q453E	Q	+	1	0	MME	156344881	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.803000	0.38863	1.480000	0.48289	-0.181000	0.13052	CAG		0.363	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1		NM_000902		8	32	0	0	0	1	0	8	32		
SLC33A1	9197	broad.mit.edu	37	3	155571672	155571672	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:155571672G>A	ENST00000392845.3	-	1	495	c.115C>T	c.(115-117)Cat>Tat	p.H39Y	SLC33A1_ENST00000359479.3_Missense_Mutation_p.H39Y|SLC33A1_ENST00000460729.1_5'Flank			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	39					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GAGTCCAAATGACTGTCATCC	0.612																																						uc003fan.3		NaN																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(115-117)CAT>TAT		acetyl-coenzyme A transporter							34.0	38.0	36.0					3																	155571672		2203	4300	6503	SO:0001583	missense	9197				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	g.chr3:155571672G>A	D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.115C>T	3.37:g.155571672G>A	ENSP00000376587:p.His39Tyr					SLC33A1_uc003fao.1_Missense_Mutation_p.H39Y	p.H39Y	NM_004733	NP_004724	O00400	ACATN_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		1	496	-			39			Cytoplasmic (Potential).		B2R5Q2|D3DNK4	Missense_Mutation	SNP	ENST00000392845.3	37	c.115C>T	CCDS3173.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017447	0.35606	.	.	ENSG00000169359	ENST00000392845;ENST00000359479	T;T	0.72051	-0.62;-0.62	5.04	4.17	0.49024	Major facilitator superfamily domain, general substrate transporter (1);	1.417170	0.03748	N	0.255999	T	0.57359	0.2048	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.49513	-0.8932	10	0.59425	D	0.04	1.6041	12.5321	0.56122	0.0772:0.0:0.9228:0.0	.	39	O00400	ACATN_HUMAN	Y	39	ENSP00000376587:H39Y;ENSP00000352456:H39Y	ENSP00000352456:H39Y	H	-	1	0	SLC33A1	157054366	0.001000	0.12720	0.005000	0.12908	0.079000	0.17450	0.874000	0.28065	1.500000	0.48636	0.650000	0.86243	CAT		0.612	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3		NM_004733		22	59	0	0	0	1	0	22	59		
SSR3	6747	broad.mit.edu	37	3	156271470	156271470	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:156271470C>T	ENST00000265044.2	-	2	328	c.234G>A	c.(232-234)aaG>aaA	p.K78K	SSR3_ENST00000467789.1_Silent_p.K78K|SSR3_ENST00000463503.1_Silent_p.K26K|SSR3_ENST00000476217.1_Silent_p.K78K|SSR3_ENST00000478842.1_5'Flank|SSR3_ENST00000496050.1_Silent_p.K26K	NM_007107.3	NP_009038.1	Q9UNL2	SSRG_HUMAN	signal sequence receptor, gamma (translocon-associated protein gamma)	78					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	integral component of endoplasmic reticulum membrane (GO:0030176)|Sec61 translocon complex (GO:0005784)				endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ATTTCACATTCTTGTATGCAA	0.333																																						uc003fau.2		NaN																	0					0						c.(232-234)AAG>AAA		signal sequence receptor gamma subunit							102.0	95.0	97.0					3																	156271470		2203	4300	6503	SO:0001819	synonymous_variant	6747				cotranslational protein targeting to membrane	integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex	protein binding|signal sequence binding	g.chr3:156271470C>T	BC017203	CCDS3176.1	3q25.31	2004-02-27			ENSG00000114850	ENSG00000114850			11325	protein-coding gene	gene with protein product		606213					Standard	NM_007107		Approved	TRAPG	uc003fau.3	Q9UNL2	OTTHUMG00000158632	ENST00000265044.2:c.234G>A	3.37:g.156271470C>T						SSR3_uc011bop.1_Silent_p.K78K	p.K78K	NM_007107	NP_009038	Q9UNL2	SSRG_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		2	291	-			78			Lumenal (Potential).		B2R7D0|B4E2P2|D3DNK5|Q549M4	Silent	SNP	ENST00000265044.2	37	c.234G>A	CCDS3176.1																																																																																				0.333	SSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351521.1		NM_007107		10	37	0	0	0	1	0	10	37		
SMC4	10051	broad.mit.edu	37	3	160119741	160119741	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:160119741G>A	ENST00000357388.3	+	3	629	c.178G>A	c.(178-180)Gag>Aag	p.E60K	SMC4_ENST00000469762.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.E60K|IFT80_ENST00000496589.1_5'Flank|IFT80_ENST00000477495.1_5'Flank|IFT80_ENST00000326448.7_5'Flank|RP11-432B6.3_ENST00000483754.1_Intron|MIR15B_ENST00000385045.1_RNA|MIR16-2_ENST00000362117.1_RNA|SMC4_ENST00000344722.5_Missense_Mutation_p.E60K|SMC4_ENST00000360111.2_Missense_Mutation_p.E60K	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	60					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAGTTTAGAAGAGATTTTGAA	0.448																																						uc003fdh.2		NaN																	0				ovary(1)|breast(1)	2						c.(178-180)GAG>AAG		SMC4 structural maintenance of chromosomes							106.0	119.0	115.0					3																	160119741		2203	4300	6503	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160119741G>A	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.178G>A	3.37:g.160119741G>A	ENSP00000349961:p.Glu60Lys					IFT80_uc003fda.2_Intron|IFT80_uc011boy.1_5'Flank|IFT80_uc003fdd.1_5'Flank|IFT80_uc003fde.1_5'Flank|SMC4_uc003fdf.1_RNA|SMC4_uc003fdg.1_Missense_Mutation_p.E60K|SMC4_uc010hwc.1_Intron|SMC4_uc003fdi.2_Intron|SMC4_uc003fdj.2_Missense_Mutation_p.E60K|SMC4_uc010hwd.2_Missense_Mutation_p.E60K|uc011boz.1_5'Flank|MIR15B_hsa-mir-15b|MI0000438_5'Flank|uc003fdk.2_5'Flank|MIR16-2_hsa-mir-16-2|MI0000115_5'Flank	p.E60K	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		3	291	+			60					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.178G>A	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	36	5.746691	0.96882	.	.	ENSG00000113810	ENST00000497311;ENST00000357388;ENST00000465903;ENST00000485645;ENST00000360111;ENST00000392788;ENST00000489573;ENST00000462787;ENST00000490207;ENST00000344722	T;T;T;T;T;T;T;T;T	0.74002	0.93;-0.8;0.93;0.93;-0.79;0.26;-0.79;0.93;-0.8	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.80470	0.4629	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.989	T	0.78234	-0.2283	10	0.30854	T	0.27	-10.3987	18.7062	0.91639	0.0:0.0:1.0:0.0	.	60;60	Q9NTJ3-2;Q9NTJ3	.;SMC4_HUMAN	K	60	ENSP00000418820:E60K;ENSP00000349961:E60K;ENSP00000419247:E60K;ENSP00000420644:E60K;ENSP00000353225:E60K;ENSP00000420121:E60K;ENSP00000420734:E60K;ENSP00000420817:E60K;ENSP00000341382:E60K	ENSP00000341382:E60K	E	+	1	0	SMC4	161602435	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.568000	0.98166	2.400000	0.81607	0.591000	0.81541	GAG		0.448	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1				33	111	0	0	0	1	0	33	111		
SI	6476	broad.mit.edu	37	3	164712184	164712184	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:164712184G>A	ENST00000264382.3	-	41	4764	c.4702C>T	c.(4702-4704)Ccc>Tcc	p.P1568S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1568	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CAGGAAGCGGGATCTTGTCTC	0.299										HNSCC(35;0.089)																												uc003fei.2		NaN																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(4702-4704)CCC>TCC		sucrase-isomaltase	Acarbose(DB00284)						91.0	97.0	95.0					3																	164712184		2203	4299	6502	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164712184G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4702C>T	3.37:g.164712184G>A	ENSP00000264382:p.Pro1568Ser	HNSCC(35;0.089)					p.P1568S	NM_001041	NP_001032	P14410	SUIS_HUMAN			41	4764	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1568			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4702C>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697357	0.88830	.	.	ENSG00000090402	ENST00000264382	D	0.93426	-3.22	5.2	5.2	0.72013	Glycoside hydrolase, superfamily (1);	0.116998	0.64402	D	0.000014	D	0.97945	0.9324	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98664	1.0685	10	0.87932	D	0	.	18.9473	0.92626	0.0:0.0:1.0:0.0	.	1568	P14410	SUIS_HUMAN	S	1568	ENSP00000264382:P1568S	ENSP00000264382:P1568S	P	-	1	0	SI	166194878	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.314000	0.96306	2.876000	0.98609	0.644000	0.83932	CCC		0.299	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1		NM_001041		21	54	0	0	0	1	0	21	54		
SLITRK3	22865	broad.mit.edu	37	3	164907342	164907342	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:164907342G>A	ENST00000475390.1	-	2	1720	c.1277C>T	c.(1276-1278)tCt>tTt	p.S426F	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S426F			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	426					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCAAAAATCAGAACGGTATAT	0.388										HNSCC(40;0.11)																												uc003fej.3		NaN																	0				ovary(6)|skin(3)|pancreas(1)	10						c.(1276-1278)TCT>TTT		slit and trk like 3 protein precursor							52.0	53.0	53.0					3																	164907342		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164907342G>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1277C>T	3.37:g.164907342G>A	ENSP00000420091:p.Ser426Phe	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.S426F	p.S426F	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	1721	-			426			LRR 7.|Extracellular (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.1277C>T	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839361	0.71488	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.55413	0.52;0.52	5.58	5.58	0.84498	.	0.000000	0.37437	N	0.002100	T	0.69061	0.3069	M	0.67397	2.05	0.80722	D	1	D	0.65815	0.995	P	0.59221	0.854	T	0.69705	-0.5073	10	0.62326	D	0.03	-16.764	19.3769	0.94514	0.0:0.0:1.0:0.0	.	426	O94933	SLIK3_HUMAN	F	426	ENSP00000420091:S426F;ENSP00000241274:S426F	ENSP00000241274:S426F	S	-	2	0	SLITRK3	166390036	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.860000	0.86993	2.906000	0.99361	0.655000	0.94253	TCT		0.388	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1		NM_014926		11	38	0	0	0	1	0	11	38		
SERPINI2	5276	broad.mit.edu	37	3	167159970	167159970	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:167159970G>A	ENST00000476257.1	-	10	1443	c.1145C>T	c.(1144-1146)tCa>tTa	p.S382L	SERPINI2_ENST00000264677.4_Missense_Mutation_p.S382L|SERPINI2_ENST00000471111.1_Missense_Mutation_p.S382L|SERPINI2_ENST00000461846.1_Missense_Mutation_p.S382L			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	382					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AAACAGAATTGATTCTAGGGA	0.313																																						uc003fer.1		NaN																	0				skin(2)|urinary_tract(1)	3						c.(1144-1146)TCA>TTA		serpin peptidase inhibitor, clade I (pancpin),																																				SO:0001583	missense	5276				cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167159970G>A	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.1145C>T	3.37:g.167159970G>A	ENSP00000420621:p.Ser382Leu					SERPINI2_uc003fes.1_Missense_Mutation_p.S392L|SERPINI2_uc003fet.1_Missense_Mutation_p.S382L	p.S382L	NM_006217	NP_006208	O75830	SPI2_HUMAN			8	1203	-			382						Missense_Mutation	SNP	ENST00000476257.1	37	c.1145C>T	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998447	0.54147	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111	D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84	6.17	6.17	0.99709	Serpin domain (3);	0.135153	0.52532	D	0.000079	D	0.89632	0.6771	L	0.42529	1.33	0.40799	D	0.983327	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.89203	0.3559	10	0.51188	T	0.08	.	16.3795	0.83443	0.0:0.0:1.0:0.0	.	382;382	B4DDY9;O75830	.;SPI2_HUMAN	L	382	ENSP00000420621:S382L;ENSP00000417692:S382L;ENSP00000264677:S382L;ENSP00000419407:S382L	ENSP00000264677:S382L	S	-	2	0	SERPINI2	168642664	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.222000	0.65277	2.941000	0.99782	0.655000	0.94253	TCA		0.313	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1		NM_006217		7	15	0	0	0	1	0	7	15		
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		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.E545K(881)|p.E545Q(18)		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)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	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	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	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.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	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.chr3:178936091G>A		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.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	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)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2				10	32	0	0	0	1	0	10	32		
ZNF639	51193	broad.mit.edu	37	3	179050806	179050806	+	Missense_Mutation	SNP	G	G	A	rs537907877		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:179050806G>A	ENST00000326361.3	+	6	644	c.199G>A	c.(199-201)Gac>Aac	p.D67N	ZNF639_ENST00000496856.1_Missense_Mutation_p.D67N|ZNF639_ENST00000484866.1_Missense_Mutation_p.D67N|ZNF639_ENST00000466663.1_3'UTR	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	67					negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			gacgtcaaatgacttgccaaa	0.363																																						uc003fjq.1		NaN																	0					0						c.(199-201)GAC>AAC		zinc finger protein 639							66.0	59.0	61.0					3																	179050806		2136	4163	6299	SO:0001583	missense	51193				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:179050806G>A	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"""Zinc fingers, C2H2-type"""	30950	protein-coding gene	gene with protein product	"""zinc finger amplified in esophageal squamous cell carcinomas 1"""					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.199G>A	3.37:g.179050806G>A	ENSP00000325634:p.Asp67Asn					ZNF639_uc003fjr.1_Missense_Mutation_p.D67N	p.D67N	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		5	542	+	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		67					A9X3Z9|D3DNR3	Missense_Mutation	SNP	ENST00000326361.3	37	c.199G>A	CCDS3227.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622305	0.46840	.	.	ENSG00000121864	ENST00000496856;ENST00000491818;ENST00000481587;ENST00000326361;ENST00000466264;ENST00000484866;ENST00000494234	T;T;T;T	0.03831	3.79;3.79;4.38;3.79	5.86	5.86	0.93980	.	0.777815	0.11993	N	0.509583	T	0.05410	0.0143	L	0.27053	0.805	0.35648	D	0.811528	B	0.09022	0.002	B	0.08055	0.003	T	0.45381	-0.9265	10	0.22109	T	0.4	.	16.0536	0.80779	0.0:0.0:1.0:0.0	.	67	Q9UID6	ZN639_HUMAN	N	67	ENSP00000417740:D67N;ENSP00000325634:D67N;ENSP00000419650:D67N;ENSP00000418766:D67N	ENSP00000325634:D67N	D	+	1	0	ZNF639	180533500	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.077000	0.57598	2.937000	0.99478	0.650000	0.86243	GAC		0.363	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1		NM_016331		2	1	0	0	0	1	0	2	1		
ACTL6A	86	broad.mit.edu	37	3	179291249	179291249	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:179291249G>C	ENST00000429709.2	+	4	583	c.370G>C	c.(370-372)Gag>Cag	p.E124Q	ACTL6A_ENST00000450518.2_Missense_Mutation_p.E82Q|ACTL6A_ENST00000392662.1_Missense_Mutation_p.E82Q	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	124					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TCTCATGTCAGAGGCACCGGT	0.338																																						uc003fjw.2		NaN																	0				ovary(1)	1						c.(370-372)GAG>CAG		actin-like 6A isoform 1							94.0	89.0	91.0					3																	179291249		2203	4300	6503	SO:0001583	missense	86				chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	g.chr3:179291249G>C	AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"""INO80 complex subunits"""	24124	protein-coding gene	gene with protein product	"""BAF complex 53 kDa subunit"", ""BRG1-associated factor"", ""actin-related protein 4"", ""INO80 complex subunit K"""	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.370G>C	3.37:g.179291249G>C	ENSP00000397552:p.Glu124Gln					ACTL6A_uc003fjx.2_Missense_Mutation_p.E82Q|ACTL6A_uc003fjy.2_Missense_Mutation_p.E82Q	p.E124Q	NM_004301	NP_004292	O96019	ACL6A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)		4	543	+	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		124					B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Missense_Mutation	SNP	ENST00000429709.2	37	c.370G>C	CCDS3231.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009150	0.93346	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662	D;D;D	0.96913	-4.17;-4.17;-4.17	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.98372	0.9459	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.99091	1.0840	10	0.87932	D	0	.	19.6536	0.95828	0.0:0.0:1.0:0.0	.	124	O96019	ACL6A_HUMAN	Q	124;82;82	ENSP00000397552:E124Q;ENSP00000394014:E82Q;ENSP00000376430:E82Q	ENSP00000376430:E82Q	E	+	1	0	ACTL6A	180773943	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.690000	0.98676	2.637000	0.89404	0.650000	0.86243	GAG		0.338	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1		NM_004301		19	42	0	0	0	1	0	19	42		
PEX5L	51555	broad.mit.edu	37	3	179533669	179533669	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:179533669G>A	ENST00000467460.1	-	10	1393	c.1063C>T	c.(1063-1065)Cag>Tag	p.Q355*	PEX5L_ENST00000485199.1_Nonsense_Mutation_p.Q320*|PEX5L_ENST00000464614.1_Nonsense_Mutation_p.Q247*|PEX5L_ENST00000468741.1_Nonsense_Mutation_p.Q163*|PEX5L_ENST00000476138.1_Nonsense_Mutation_p.Q312*|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000392649.3_Nonsense_Mutation_p.Q247*|PEX5L_ENST00000263962.8_Nonsense_Mutation_p.Q353*|PEX5L_ENST00000472994.1_Nonsense_Mutation_p.Q296*|PEX5L_ENST00000465751.1_Nonsense_Mutation_p.Q331*	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	355					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CCAGGGTCCTGAAGAATTGCT	0.507																																						uc003fki.1		NaN																	0				ovary(3)|large_intestine(1)	4						c.(1063-1065)CAG>TAG		peroxisomal biogenesis factor 5-like							131.0	121.0	124.0					3																	179533669		2203	4300	6503	SO:0001587	stop_gained	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179533669G>A	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1063C>T	3.37:g.179533669G>A	ENSP00000419975:p.Gln355*					PEX5L_uc011bqd.1_Nonsense_Mutation_p.Q312*|PEX5L_uc011bqe.1_Nonsense_Mutation_p.Q163*|PEX5L_uc011bqf.1_Nonsense_Mutation_p.Q247*|PEX5L_uc003fkj.1_Nonsense_Mutation_p.Q320*|PEX5L_uc010hxd.1_Nonsense_Mutation_p.Q353*|PEX5L_uc011bqg.1_Nonsense_Mutation_p.Q331*|PEX5L_uc011bqh.1_Nonsense_Mutation_p.Q296*	p.Q355*	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		10	1193	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		355					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Nonsense_Mutation	SNP	ENST00000467460.1	37	c.1063C>T	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	G	37	6.108079	0.97291	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-14.9322	19.8585	0.96775	0.0:0.0:1.0:0.0	.	.	.	.	X	355;353;320;353;247;163;312;243;296;247;331	.	ENSP00000263962:Q353X	Q	-	1	0	PEX5L	181016363	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.420000	0.97426	2.760000	0.94817	0.655000	0.94253	CAG		0.507	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1		NM_016559		20	68	0	0	0	1	0	20	68		
TTC14	151613	broad.mit.edu	37	3	180322650	180322650	+	Missense_Mutation	SNP	G	G	A	rs202173014		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:180322650G>A	ENST00000296015.4	+	6	844	c.712G>A	c.(712-714)Gag>Aag	p.E238K	TTC14_ENST00000412756.2_Missense_Mutation_p.E238K|TTC14_ENST00000382584.4_Missense_Mutation_p.E238K|RP11-496B10.3_ENST00000472596.1_lincRNA	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	238							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GAGAAGTGTTGAGCTAAATAG	0.303													G|||	1	0.000199681	0.0	0.0	5008	,	,		19130	0.001		0.0	False		,,,				2504	0.0					uc003fkk.2		NaN																	0				ovary(1)	1						c.(712-714)GAG>AAG		tetratricopeptide repeat domain 14 isoform a							57.0	60.0	59.0					3																	180322650		2202	4300	6502	SO:0001583	missense	151613						RNA binding	g.chr3:180322650G>A	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.712G>A	3.37:g.180322650G>A	ENSP00000296015:p.Glu238Lys					TTC14_uc003fkl.2_Missense_Mutation_p.E238K|TTC14_uc003fkm.2_Missense_Mutation_p.E238K	p.E238K	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		6	844	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		238			TPR 1.		G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.712G>A	CCDS3237.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.53	3.149659	0.57151	.	.	ENSG00000163728	ENST00000296015;ENST00000412756;ENST00000382584;ENST00000492617	T;T	0.46451	0.87;0.87	5.91	5.91	0.95273	.	0.376707	0.32655	N	0.005801	T	0.53498	0.1800	L	0.43152	1.355	0.80722	D	1	P;P;D	0.67145	0.631;0.458;0.996	B;B;P	0.57620	0.229;0.053;0.824	T	0.33879	-0.9851	10	0.29301	T	0.29	-24.7767	20.3011	0.98612	0.0:0.0:1.0:0.0	.	238;238;238	Q96N46-2;G5E9X0;Q96N46	.;.;TTC14_HUMAN	K	238;238;238;138	ENSP00000296015:E238K;ENSP00000372027:E238K	ENSP00000296015:E238K	E	+	1	0	TTC14	181805344	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	2.612000	0.46343	2.804000	0.96469	0.650000	0.86243	GAG		0.303	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1		NM_133462		4	26	0	0	0	1	0	4	26		
DCUN1D1	54165	broad.mit.edu	37	3	182683333	182683333	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:182683333C>G	ENST00000292782.4	-	2	365	c.212G>C	c.(211-213)aGa>aCa	p.R71T	DCUN1D1_ENST00000469954.1_Missense_Mutation_p.R56T	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	71	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					ubiquitin ligase complex (GO:0000151)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ACCTTTGTATCTATTGTACAG	0.328																																						uc003fld.1		NaN																	0				ovary(1)	1						c.(211-213)AGA>ACA		RP42 homolog							73.0	70.0	71.0					3																	182683333		2202	4300	6502	SO:0001583	missense	54165					ubiquitin ligase complex	protein binding	g.chr3:182683333C>G	AF292100, AK056335	CCDS3240.1	3q26.3	2013-06-10	2013-06-10		ENSG00000043093	ENSG00000043093			18184	protein-coding gene	gene with protein product	"""squamous cell carcinoma related oncogene"""	605905	"""DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)"""			10777668, 15988528	Standard	NM_020640		Approved	RP42, SCRO, DCUN1L1, Tes3, SCCRO	uc003fld.1	Q96GG9	OTTHUMG00000158314	ENST00000292782.4:c.212G>C	3.37:g.182683333C>G	ENSP00000292782:p.Arg71Thr					DCUN1D1_uc011bqn.1_5'UTR	p.R71T	NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		2	261	-	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		71			DCUN1.		B2RB37|Q7L3G9|Q8TEX7|Q9H6M1|Q9HCT3	Missense_Mutation	SNP	ENST00000292782.4	37	c.212G>C	CCDS3240.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927391	0.73327	.	.	ENSG00000043093	ENST00000292782;ENST00000458486;ENST00000469954;ENST00000497606;ENST00000460412;ENST00000487822;ENST00000466812	.	.	.	5.84	5.84	0.93424	Domain of unknown function DUF298 (1);	0.000000	0.85682	D	0.000000	T	0.71117	0.3302	M	0.74467	2.265	0.80722	D	1	P	0.52061	0.95	P	0.47941	0.562	T	0.71234	-0.4653	9	0.40728	T	0.16	-44.1687	20.1295	0.97995	0.0:1.0:0.0:0.0	.	71	Q96GG9	DCNL1_HUMAN	T	71;71;56;56;56;56;56	.	ENSP00000292782:R71T	R	-	2	0	DCUN1D1	184166027	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.758000	0.94735	0.591000	0.81541	AGA		0.328	DCUN1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350658.1		NM_020640		5	11	0	0	0	1	0	5	11		
B3GNT5	84002	broad.mit.edu	37	3	182987774	182987774	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:182987774C>T	ENST00000326505.3	+	2	718	c.188C>T	c.(187-189)tCt>tTt	p.S63F	MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.S63F|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.S63F	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	63					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)	p.S63C(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GATACCCTGTCTCTTAAGCAC	0.393																																						uc003flk.2		NaN																	1	Substitution - Missense(1)		endometrium(1)	ovary(1)	1						c.(187-189)TCT>TTT		UDP-GlcNAc:betaGal							119.0	116.0	117.0					3																	182987774		2203	4300	6503	SO:0001583	missense	84002				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:182987774C>T	AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"""Beta 3-glycosyltransferases"""	15684	protein-coding gene	gene with protein product	"""lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"""	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.188C>T	3.37:g.182987774C>T	ENSP00000316173:p.Ser63Phe					MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Missense_Mutation_p.S63F|B3GNT5_uc003flm.2_Missense_Mutation_p.S63F	p.S63F	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		2	718	+	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		63			Lumenal (Potential).		D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Missense_Mutation	SNP	ENST00000326505.3	37	c.188C>T	CCDS3244.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288985	0.40494	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000464923;ENST00000465010	T;T;T	0.39997	1.05;1.05;1.05	5.92	5.92	0.95590	.	0.439626	0.24933	N	0.034450	T	0.49830	0.1580	M	0.74881	2.28	0.46149	D	0.998892	D	0.56035	0.974	P	0.49752	0.621	T	0.42783	-0.9431	10	0.12766	T	0.61	.	13.5106	0.61511	0.0:0.929:0.0:0.071	.	63	Q9BYG0	B3GN5_HUMAN	F	63	ENSP00000316173:S63F;ENSP00000420778:S63F;ENSP00000417868:S63F	ENSP00000316173:S63F	S	+	2	0	B3GNT5	184470468	0.994000	0.37717	0.811000	0.32455	0.943000	0.58893	3.200000	0.51051	2.809000	0.96659	0.655000	0.94253	TCT		0.393	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351009.1		NM_032047		24	83	0	0	0	1	0	24	83		
B3GNT5	84002	broad.mit.edu	37	3	182987776	182987776	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:182987776C>T	ENST00000326505.3	+	2	720	c.190C>T	c.(190-192)Ctt>Ttt	p.L64F	MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.L64F|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.L64F	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	64					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TACCCTGTCTCTTAAGCACAC	0.403																																						uc003flk.2		NaN																	0				ovary(1)	1						c.(190-192)CTT>TTT		UDP-GlcNAc:betaGal							118.0	114.0	116.0					3																	182987776		2203	4300	6503	SO:0001583	missense	84002				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:182987776C>T	AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"""Beta 3-glycosyltransferases"""	15684	protein-coding gene	gene with protein product	"""lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"""	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.190C>T	3.37:g.182987776C>T	ENSP00000316173:p.Leu64Phe					MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Missense_Mutation_p.L64F|B3GNT5_uc003flm.2_Missense_Mutation_p.L64F	p.L64F	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		2	720	+	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		64			Lumenal (Potential).		D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Missense_Mutation	SNP	ENST00000326505.3	37	c.190C>T	CCDS3244.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.217780	0.39201	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000464923;ENST00000465010	T;T;T	0.39997	1.05;1.05;1.05	5.92	3.07	0.35406	.	0.565683	0.17359	N	0.177120	T	0.36026	0.0952	M	0.63428	1.95	0.28946	N	0.890701	P	0.39216	0.664	B	0.33690	0.168	T	0.14924	-1.0455	10	0.28530	T	0.3	.	10.7417	0.46158	0.2348:0.4129:0.3523:0.0	.	64	Q9BYG0	B3GN5_HUMAN	F	64	ENSP00000316173:L64F;ENSP00000420778:L64F;ENSP00000417868:L64F	ENSP00000316173:L64F	L	+	1	0	B3GNT5	184470470	0.011000	0.17503	0.796000	0.32109	0.931000	0.56810	-0.425000	0.07017	0.343000	0.23821	0.655000	0.94253	CTT		0.403	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351009.1		NM_032047		24	83	0	0	0	1	0	24	83		
HTR3E	285242	broad.mit.edu	37	3	183823613	183823613	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:183823613C>G	ENST00000415389.2	+	7	1247	c.781C>G	c.(781-783)Ctg>Gtg	p.L261V	HTR3E_ENST00000436361.2_Missense_Mutation_p.L261V|HTR3E_ENST00000425359.2_Missense_Mutation_p.L246V|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000440596.2_Missense_Mutation_p.L287V|HTR3E_ENST00000335304.2_Missense_Mutation_p.L276V	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	261					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CAGTGGCTTTCTGGTTGCCAT	0.547																																					Melanoma(7;227 727 6634 44770)	uc010hxq.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(781-783)CTG>GTG		5-hydroxytryptamine receptor 3 subunit E							155.0	134.0	141.0					3																	183823613		2203	4300	6503	SO:0001583	missense	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183823613C>G	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.781C>G	3.37:g.183823613C>G	ENSP00000401444:p.Leu261Val					HTR3E_uc003fml.3_Missense_Mutation_p.L246V|HTR3E_uc003fmm.2_Missense_Mutation_p.L276V|HTR3E_uc010hxr.2_Missense_Mutation_p.L287V|HTR3E_uc003fmn.2_Missense_Mutation_p.L261V	p.L261V	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		7	1247	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		261			Helical; Name=1; (Potential).		A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	ENST00000415389.2	37	c.781C>G	CCDS58868.1	.	.	.	.	.	.	.	.	.	.	c	13.43	2.233916	0.39498	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000436361;ENST00000440596	D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02	3.79	2.89	0.33648	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.53938	U	0.000050	D	0.92974	0.7764	M	0.92923	3.36	0.29620	N	0.846239	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.999;0.999;0.999;0.999	D	0.88649	0.3181	10	0.72032	D	0.01	.	10.5531	0.45101	0.1946:0.8054:0.0:0.0	.	287;261;261;276;246	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	V	261;246;276;261;287	ENSP00000401444:L261V;ENSP00000401900:L246V;ENSP00000335511:L276V;ENSP00000395833:L261V;ENSP00000406050:L287V	ENSP00000335511:L276V	L	+	1	2	HTR3E	185306307	1.000000	0.71417	0.451000	0.26982	0.173000	0.22820	4.401000	0.59716	0.905000	0.36596	0.655000	0.94253	CTG		0.547	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1		NM_182589		29	113	0	0	0	1	0	29	113		
EIF4G1	1981	broad.mit.edu	37	3	184043095	184043095	+	Silent	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:184043095C>A	ENST00000346169.2	+	19	3166	c.2895C>A	c.(2893-2895)atC>atA	p.I965I	EIF4G1_ENST00000382330.3_Silent_p.I972I|EIF4G1_ENST00000441154.1_Silent_p.I802I|EIF4G1_ENST00000392537.2_Silent_p.I878I|EIF4G1_ENST00000435046.2_Silent_p.I769I|EIF4G1_ENST00000414031.1_Silent_p.I925I|EIF2B5_ENST00000444495.1_Intron|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000427845.1_Silent_p.I879I|EIF4G1_ENST00000352767.3_Silent_p.I972I|EIF4G1_ENST00000342981.4_Silent_p.I966I|EIF4G1_ENST00000411531.1_Silent_p.I926I|EIF4G1_ENST00000350481.5_Silent_p.I801I|EIF4G1_ENST00000434061.2_Silent_p.I770I|EIF4G1_ENST00000424196.1_Silent_p.I972I|EIF4G1_ENST00000319274.6_Silent_p.I965I	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	965	eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|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)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGGAAAAAATCATTAAAGAAA	0.532																																						uc003fnp.2		NaN																	0				lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(2893-2895)ATC>ATA		eukaryotic translation initiation factor 4							100.0	102.0	101.0					3																	184043095		2203	4300	6503	SO:0001819	synonymous_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184043095C>A	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2895C>A	3.37:g.184043095C>A						EIF4G1_uc003fno.1_Silent_p.I906I|EIF4G1_uc010hxw.1_Silent_p.I801I|EIF4G1_uc003fnt.2_Silent_p.I676I|EIF4G1_uc003fnq.2_Silent_p.I878I|EIF4G1_uc003fnr.2_Silent_p.I801I|EIF4G1_uc010hxx.2_Silent_p.I972I|EIF4G1_uc003fns.2_Silent_p.I925I|EIF4G1_uc010hxy.2_Silent_p.I972I|EIF4G1_uc003fnv.3_Silent_p.I966I|EIF4G1_uc003fnu.3_Silent_p.I965I|EIF4G1_uc003fnw.2_Silent_p.I972I|EIF4G1_uc003fnx.2_Silent_p.I770I|EIF4G1_uc003fny.3_Silent_p.I769I|SNORD66_uc003fnz.2_5'Flank	p.I965I	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		19	3093	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		965			eIF3/EIF4A-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	c.2895C>A	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	8.885	0.952597	0.18431	.	.	ENSG00000114867	ENST00000448284	.	.	.	5.53	3.73	0.42828	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.3973	9.0025	0.36090	0.2638:0.6671:0.0:0.0691	.	.	.	.	X	17	.	.	S	+	2	0	EIF4G1	185525789	0.991000	0.36638	1.000000	0.80357	0.963000	0.63663	0.366000	0.20365	0.693000	0.31634	0.555000	0.69702	TCA		0.532	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1		NM_182917		35	113	1	0	3.67414e-24	1	3.91955e-24	35	113		
MAP3K13	9175	broad.mit.edu	37	3	185146691	185146691	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:185146691G>C	ENST00000265026.3	+	2	656	c.322G>C	c.(322-324)Gag>Cag	p.E108Q	MAP3K13_ENST00000424227.1_Missense_Mutation_p.E108Q|MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000443863.1_Intron	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGTGGACGGAGAGAGCACAAG	0.517																																						uc010hyf.2		NaN																	0				ovary(2)|skin(1)	3						c.(322-324)GAG>CAG		mitogen-activated protein kinase kinase kinase							109.0	97.0	101.0					3																	185146691		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185146691G>C	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.322G>C	3.37:g.185146691G>C	ENSP00000265026:p.Glu108Gln					MAP3K13_uc011brt.1_Intron|MAP3K13_uc003fph.3_5'UTR|MAP3K13_uc011bru.1_Intron|MAP3K13_uc003fpi.2_Missense_Mutation_p.E108Q|MAP3K13_uc010hyg.2_5'UTR	p.E108Q	NM_004721	NP_004712	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		3	588	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		108						Missense_Mutation	SNP	ENST00000265026.3	37	c.322G>C	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.114577	0.37339	.	.	ENSG00000073803	ENST00000447637;ENST00000424227;ENST00000428617;ENST00000265026	T;T;T;T	0.76448	0.61;-1.02;0.84;-1.02	5.61	5.61	0.85477	.	0.067857	0.64402	D	0.000012	T	0.62454	0.2429	N	0.08118	0	0.80722	D	1	B	0.23316	0.083	B	0.24006	0.05	T	0.58160	-0.7685	10	0.16420	T	0.52	.	19.6419	0.95762	0.0:0.0:1.0:0.0	.	108	O43283	M3K13_HUMAN	Q	108	ENSP00000389495:E108Q;ENSP00000399910:E108Q;ENSP00000405163:E108Q;ENSP00000265026:E108Q	ENSP00000265026:E108Q	E	+	1	0	MAP3K13	186629385	1.000000	0.71417	0.962000	0.40283	0.195000	0.23768	7.863000	0.87023	2.640000	0.89533	0.655000	0.94253	GAG		0.517	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1		NM_004721		25	45	0	0	0	1	0	25	45		
CLDN16	10686	broad.mit.edu	37	3	190105989	190105989	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:190105989G>A	ENST00000264734.2	+	1	329	c.81G>A	c.(79-81)gtG>gtA	p.V27V	CLDN16_ENST00000456423.1_Silent_p.V27V|CLDN16_ENST00000468220.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	27					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		AGCAGGGCGTGAGAAAAAGTA	0.502																																						uc003fsi.2		NaN																	0				ovary(1)	1						c.(79-81)GTG>GTA		claudin 16							62.0	59.0	60.0					3																	190105989		2203	4300	6503	SO:0001819	synonymous_variant	10686				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity	g.chr3:190105989G>A	AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"""Claudins"""	2037	protein-coding gene	gene with protein product	"""paracellin-1"", ""hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"""	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.81G>A	3.37:g.190105989G>A						CLDN16_uc010hze.2_Silent_p.V27V	p.V27V	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)	1	149	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		27			Cytoplasmic (Potential).			Silent	SNP	ENST00000264734.2	37	c.81G>A	CCDS3296.1																																																																																				0.502	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1		NM_006580		7	47	0	0	0	1	0	7	47		
HES1	3280	broad.mit.edu	37	3	193855564	193855564	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:193855564G>C	ENST00000232424.3	+	4	621	c.385G>C	c.(385-387)Gag>Cag	p.E129Q		NM_005524.3	NP_005515.1	P30042	ES1_HUMAN	hes family bHLH transcription factor 1	0						mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		GTCCACGTGCGAGGGCGTTAA	0.657																																						uc003ftq.1		NaN																	0				ovary(1)|lung(1)	2						c.(385-387)GAG>CAG		hairy and enhancer of split 1							68.0	59.0	62.0					3																	193855564		2203	4300	6503	SO:0001583	missense	3280				endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr3:193855564G>C	L19314	CCDS3305.1	3q28-q29	2013-10-17	2013-10-17	2003-01-10	ENSG00000114315	ENSG00000114315		"""Basic helix-loop-helix proteins"""	5192	protein-coding gene	gene with protein product		139605	"""hairy homolog (Drosophila)"", ""hairy and enhancer of split 1, (Drosophila)"""	HRY		8020957	Standard	NM_005524		Approved	FLJ20408, HES-1, Hes1, bHLHb39	uc003ftq.2	Q14469	OTTHUMG00000155984	ENST00000232424.3:c.385G>C	3.37:g.193855564G>C	ENSP00000232424:p.Glu129Gln						p.E129Q	NM_005524	NP_005515	Q14469	HES1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)	4	621	+	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		129			Orange.		A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Missense_Mutation	SNP	ENST00000232424.3	37	c.385G>C	CCDS3305.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401046	0.83120	.	.	ENSG00000114315	ENST00000232424	T	0.51574	0.7	4.19	4.19	0.49359	Orange subgroup (1);Orange (2);	0.359333	0.30723	N	0.009001	T	0.67183	0.2866	M	0.80028	2.48	0.54753	D	0.999989	D	0.69078	0.997	D	0.67900	0.954	T	0.72653	-0.4228	10	0.72032	D	0.01	8.5171	12.733	0.57208	0.0:0.0:0.8354:0.1646	.	129	Q14469	HES1_HUMAN	Q	129	ENSP00000232424:E129Q	ENSP00000232424:E129Q	E	+	1	0	HES1	195338258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.805000	0.86005	2.037000	0.60232	0.555000	0.69702	GAG		0.657	HES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342632.1				21	86	0	0	0	1	0	21	86		
MUC4	4585	broad.mit.edu	37	3	195505851	195505851	+	Silent	SNP	T	T	C	rs200522168		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:195505851T>C	ENST00000463781.3	-	2	13059	c.12600A>G	c.(12598-12600)tcA>tcG	p.S4200S	MUC4_ENST00000475231.1_Silent_p.S4200S|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGTGGATGCTGAGGAAGTGT	0.592																																						uc011bto.1		NaN																	0					0						c.(12214-12216)TCA>TCG		mucin 4 isoform a							18.0	14.0	15.0					3																	195505851		689	1574	2263	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505851T>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12600A>G	3.37:g.195505851T>C						MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	p.S4072S	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	3	12676	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	963			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.12216A>G	CCDS54700.1																																																																																				0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406		2	2	0	0	0	1	0	2	2		
RNF168	165918	broad.mit.edu	37	3	196199034	196199034	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:196199034C>T	ENST00000318037.3	-	6	1966	c.1372G>A	c.(1372-1374)Gat>Aat	p.D458N	CTD-2002J20.1_ENST00000610042.1_RNA	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	458					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		TGCTCTTTATCCACCTCCTTC	0.438																																						uc003fwq.2		NaN																	0					0						c.(1372-1374)GAT>AAT		ring finger protein 168							203.0	197.0	199.0					3																	196199034		2203	4300	6503	SO:0001583	missense	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196199034C>T	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.1372G>A	3.37:g.196199034C>T	ENSP00000320898:p.Asp458Asn					RNF168_uc010iah.2_Missense_Mutation_p.D291N|uc010iag.1_5'Flank	p.D458N	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	6	1910	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		458			MIU motif 2.		Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	c.1372G>A	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.335561	0.24253	.	.	ENSG00000163961	ENST00000318037	T	0.19669	2.13	6.08	4.29	0.51040	.	0.263956	0.33005	N	0.005381	T	0.17874	0.0429	L	0.53729	1.69	0.41506	D	0.988318	P	0.38597	0.639	B	0.30943	0.122	T	0.04708	-1.0932	10	0.34782	T	0.22	-20.3681	11.698	0.51554	0.0:0.806:0.0:0.194	.	458	Q8IYW5	RN168_HUMAN	N	458	ENSP00000320898:D458N	ENSP00000320898:D458N	D	-	1	0	RNF168	197683431	0.030000	0.19436	0.525000	0.27900	0.093000	0.18481	0.125000	0.15749	1.592000	0.50018	0.591000	0.81541	GAT		0.438	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1		NM_152617		47	118	0	0	0	1	0	47	118		
ZNF732	654254	broad.mit.edu	37	4	265128	265128	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:265128C>T	ENST00000419098.1	-	4	1528	c.1518G>A	c.(1516-1518)gaG>gaA	p.E506E		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	506					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						CTTTGCCACACTCTTCACATT	0.388																																						uc011buu.1		NaN																	0					0						c.(1513-1515)GAG>GAA		zinc finger protein 732							75.0	67.0	69.0					4																	265128		692	1591	2283	SO:0001819	synonymous_variant	654254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:265128C>T	AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"""Zinc fingers, C2H2-type"", ""-"""	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.1518G>A	4.37:g.265128C>T						ZNF732_uc010ibb.1_Intron	p.E505E	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN			3	1529	-			506			C2H2-type 14.			Silent	SNP	ENST00000419098.1	37	c.1515G>A	CCDS46990.1																																																																																				0.388	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2		NM_001137608		4	19	0	0	0	1	0	4	19		
TMEM175	84286	broad.mit.edu	37	4	952220	952220	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:952220A>C	ENST00000264771.4	+	11	1636	c.1451A>C	c.(1450-1452)cAc>cCc	p.H484P	TMEM175_ENST00000515740.1_Missense_Mutation_p.H368P|TMEM175_ENST00000508204.1_Missense_Mutation_p.H402P	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	484						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.H484P(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGGCCCGAACACCCCCCGCCA	0.736																																						uc003gbq.2		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(1450-1452)CAC>CCC		transmembrane protein 175							7.0	10.0	9.0					4																	952220		2108	4121	6229	SO:0001583	missense	84286					integral to membrane		g.chr4:952220A>C	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.1451A>C	4.37:g.952220A>C	ENSP00000264771:p.His484Pro					TMEM175_uc003gbr.2_Missense_Mutation_p.H402P|TMEM175_uc003gbu.2_Missense_Mutation_p.H402P|TMEM175_uc003gbs.2_Missense_Mutation_p.H367P|TMEM175_uc003gbt.2_Missense_Mutation_p.H367P|TMEM175_uc003gbv.2_Missense_Mutation_p.H367P|TMEM175_uc010ibm.2_Missense_Mutation_p.H300P	p.H484P	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		11	1549	+			484					D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	37	c.1451A>C	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	A	6.831	0.522566	0.13066	.	.	ENSG00000127419	ENST00000264771;ENST00000515740;ENST00000508204	T;T;T	0.44083	1.52;1.51;0.93	3.52	-7.04	0.01578	.	3.825800	0.01085	U	0.005077	T	0.17109	0.0411	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24048	-1.0171	10	0.34782	T	0.22	-15.717	8.4105	0.32640	0.4546:0.1236:0.4219:0.0	.	402;484	D3DVN5;Q9BSA9	.;TM175_HUMAN	P	484;368;402	ENSP00000264771:H484P;ENSP00000427039:H368P;ENSP00000423669:H402P	ENSP00000264771:H484P	H	+	2	0	TMEM175	942220	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.007000	0.03667	-2.236000	0.00713	-0.589000	0.04120	CAC		0.736	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2		NM_032326		7	20	0	0	0	1	0	7	20		
MAEA	10296	broad.mit.edu	37	4	1305911	1305911	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:1305911G>T	ENST00000303400.4	+	2	277	c.214G>T	c.(214-216)Gac>Tac	p.D72Y	MAEA_ENST00000514708.1_Missense_Mutation_p.D72Y|MAEA_ENST00000505177.2_Missense_Mutation_p.D72Y|MAEA_ENST00000264750.6_Missense_Mutation_p.D72Y|MAEA_ENST00000505839.1_Missense_Mutation_p.D24Y|MAEA_ENST00000510794.1_Missense_Mutation_p.D71Y|MAEA_ENST00000452175.2_Missense_Mutation_p.D61Y	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	72	Extracellular and involved in cell to cell contact.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	CAGCCTGCTGGACGGCGTGGT	0.632																																						uc003gda.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(214-216)GAC>TAC		macrophage erythroblast attacher isoform 1							38.0	40.0	39.0					4																	1305911		2203	4300	6503	SO:0001583	missense	10296				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding	g.chr4:1305911G>T	AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"""GID complex subunit 9, FYV10 homolog (S. cerevisiae)"""	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.214G>T	4.37:g.1305911G>T	ENSP00000302830:p.Asp72Tyr					MAEA_uc010ibs.1_Missense_Mutation_p.D72Y|MAEA_uc003gdb.2_Missense_Mutation_p.D72Y|MAEA_uc011bvb.1_Missense_Mutation_p.D72Y|MAEA_uc003gdc.2_Missense_Mutation_p.D72Y|MAEA_uc003gdd.2_RNA|MAEA_uc011bvc.1_Missense_Mutation_p.D71Y|MAEA_uc011bvd.1_Missense_Mutation_p.D24Y	p.D72Y	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0201)		2	244	+			72			Extracellular and involved in cell to cell contact.		O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Missense_Mutation	SNP	ENST00000303400.4	37	c.214G>T	CCDS33936.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.993593	0.93167	.	.	ENSG00000090316	ENST00000303400;ENST00000505177;ENST00000503653;ENST00000264750;ENST00000382947;ENST00000502558;ENST00000452175;ENST00000514708;ENST00000510794;ENST00000512842;ENST00000505839	T;T;T;T;T;T;T;T	0.57752	0.67;0.67;0.62;0.64;0.38;0.5;0.63;0.67	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.75975	0.3923	M	0.81341	2.54	0.35495	D	0.799342	D;D;D;D;D;D	0.89917	0.997;0.997;0.997;0.999;1.0;0.99	D;D;D;D;D;P	0.76071	0.948;0.96;0.982;0.987;0.975;0.894	T	0.80535	-0.1339	10	0.56958	D	0.05	-22.9569	20.3775	0.98923	0.0:0.0:1.0:0.0	.	71;72;72;72;72;72	B4DVN3;E7ESC7;Q7L5Y9-2;D6RIB6;Q7L5Y9-3;Q7L5Y9	.;.;.;.;.;MAEA_HUMAN	Y	72;72;72;72;72;72;61;72;71;24;24	ENSP00000302830:D72Y;ENSP00000422215:D72Y;ENSP00000421644:D72Y;ENSP00000264750:D72Y;ENSP00000426903:D72Y;ENSP00000411415:D61Y;ENSP00000427512:D72Y;ENSP00000426807:D71Y	ENSP00000264750:D72Y	D	+	1	0	MAEA	1295911	1.000000	0.71417	0.995000	0.50966	0.897000	0.52465	9.469000	0.97679	2.819000	0.97034	0.655000	0.94253	GAC		0.632	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1		NM_005882		11	54	1	0	3.07112e-06	1	3.15306e-06	11	54		
POLN	353497	broad.mit.edu	37	4	2172900	2172900	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:2172900G>C	ENST00000511885.2	-	12	1736	c.1383C>G	c.(1381-1383)ctC>ctG	p.L461L	POLN_ENST00000382865.1_Silent_p.L461L|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	461					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)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CCAATTCCTTGAGACGAGCCT	0.348								DNA polymerases (catalytic subunits)																														uc003ger.2		NaN																	0				kidney(2)|ovary(1)|skin(1)	4						c.(1381-1383)CTC>CTG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase nu							87.0	86.0	86.0					4																	2172900		2203	4300	6503	SO:0001819	synonymous_variant	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2172900G>C	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.1383C>G	4.37:g.2172900G>C						POLN_uc010ich.1_Silent_p.L52L|POLN_uc011bvi.1_Silent_p.L461L	p.L461L	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		10	1383	-			461					A2A336|B4E158|Q4TTW4|Q6ZNF4	Silent	SNP	ENST00000511885.2	37	c.1383C>G	CCDS3360.1	.	.	.	.	.	.	.	.	.	.	G	8.725	0.915220	0.17907	.	.	ENSG00000130997	ENST00000511098	.	.	.	5.53	1.41	0.22369	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.9331	2.9737	0.05930	0.0884:0.1492:0.4219:0.3404	.	.	.	.	X	95	.	.	S	-	2	0	POLN	2142698	0.997000	0.39634	1.000000	0.80357	0.987000	0.75469	0.053000	0.14184	0.397000	0.25310	0.655000	0.94253	TCA		0.348	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2		NM_181808		16	73	0	0	0	1	0	16	73		
HTT	3064	broad.mit.edu	37	4	3176447	3176447	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:3176447G>A	ENST00000355072.5	+	32	4311		c.e32-1			NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin						anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCATTTGGCAGATGGTTTGAT	0.423																																						uc011bvq.1		NaN																	0				skin(2)|ovary(1)|lung(1)	4						c.e33-1		huntingtin							144.0	126.0	132.0					4																	3176447		1901	4141	6042	SO:0001630	splice_region_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3176447G>A	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.4167-1G>A	4.37:g.3176447G>A							p.G1391_splice	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	33	4318	+		all_epithelial(65;0.18)						Q9UQB7	Splice_Site	SNP	ENST00000355072.5	37	c.4173_splice	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812755	0.90707	.	.	ENSG00000197386	ENST00000355072	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5955	0.95536	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HTT	3146245	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.434000	0.97515	2.626000	0.88956	0.650000	0.86243	.		0.423	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2		NM_002111	Intron	14	31	0	0	0	1	0	14	31		
HTT	3064	broad.mit.edu	37	4	3213724	3213724	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:3213724G>A	ENST00000355072.5	+	48	6628	c.6483G>A	c.(6481-6483)aaG>aaA	p.K2161K		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2161					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTGGCCAGAAGAGTGCCCTTT	0.532																																						uc011bvq.1		NaN																	0				skin(2)|ovary(1)|lung(1)	4						c.(6487-6489)AAG>AAA		huntingtin							82.0	85.0	84.0					4																	3213724		1955	4164	6119	SO:0001819	synonymous_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3213724G>A	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.6483G>A	4.37:g.3213724G>A							p.K2163K	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	49	6634	+		all_epithelial(65;0.18)	2161					Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.6489G>A	CCDS43206.1																																																																																				0.532	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2		NM_002111		26	94	0	0	0	1	0	26	94		
DOK7	285489	broad.mit.edu	37	4	3494825	3494825	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:3494825C>T	ENST00000340083.5	+	7	1177	c.1112C>T	c.(1111-1113)tCa>tTa	p.S371L	DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000389653.2_Missense_Mutation_p.S371L|DOK7_ENST00000512714.1_3'UTR	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	371					neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GAACTGGGCTCACTGCTCAGC	0.701																																						uc003ghd.2		NaN																	0				skin(1)	1						c.(1111-1113)TCA>TTA		downstream of tyrosine kinase 7 isoform 1							8.0	10.0	9.0					4																	3494825		2163	4253	6416	SO:0001583	missense	285489				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding	g.chr4:3494825C>T	AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"""chromosome 4 open reading frame 25"""	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.1112C>T	4.37:g.3494825C>T	ENSP00000344432:p.Ser371Leu					DOK7_uc003ghe.2_Missense_Mutation_p.S233L|DOK7_uc003ghf.2_Missense_Mutation_p.H113Y|DOK7_uc003ghg.1_Missense_Mutation_p.S61L	p.S371L	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	7	1182	+			371					A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Missense_Mutation	SNP	ENST00000340083.5	37	c.1112C>T	CCDS3370.2	.	.	.	.	.	.	.	.	.	.	C	18.63	3.664352	0.67700	.	.	ENSG00000175920	ENST00000389653;ENST00000340083	T;T	0.74947	-0.89;-0.75	3.77	3.77	0.43336	.	0.000000	0.85682	D	0.000000	D	0.84306	0.5443	M	0.71581	2.175	0.49915	D	0.999836	D;D;D	0.89917	1.0;0.996;0.997	D;D;P	0.77557	0.988;0.99;0.888	D	0.86254	0.1651	10	0.59425	D	0.04	-19.9121	14.8406	0.70220	0.0:1.0:0.0:0.0	.	371;233;371	Q18PE1-3;Q18PE1-2;Q18PE1	.;.;DOK7_HUMAN	L	371	ENSP00000374304:S371L;ENSP00000344432:S371L	ENSP00000344432:S371L	S	+	2	0	DOK7	3464623	1.000000	0.71417	0.469000	0.27204	0.393000	0.30537	6.417000	0.73337	1.965000	0.57142	0.555000	0.69702	TCA		0.701	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1		NM_173660		6	19	0	0	0	1	0	6	19		
LYAR	55646	broad.mit.edu	37	4	4276349	4276349	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:4276349C>T	ENST00000343470.4	-	7	817	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	LYAR_ENST00000452476.1_Missense_Mutation_p.E193K	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	193	Lys-rich.					nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		tgccgttcttcctttctttct	0.428																																						uc011bvy.1		NaN																	0					0						c.(577-579)GAA>AAA		Ly1 antibody reactive homolog							141.0	130.0	134.0					4																	4276349		2203	4300	6503	SO:0001583	missense	55646					nucleolus	metal ion binding|protein binding	g.chr4:4276349C>T	AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"""Zinc fingers, C2HC-type containing"""	26021	protein-coding gene	gene with protein product			"""Ly1 antibody reactive homolog (mouse)"""			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.577G>A	4.37:g.4276349C>T	ENSP00000345917:p.Glu193Lys					LYAR_uc011bvx.1_Missense_Mutation_p.E76K|LYAR_uc003ght.2_Missense_Mutation_p.E193K	p.E193K	NM_001145725	NP_001139197	Q9NX58	LYAR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	7	720	-			193			Potential.|Lys-rich.		D3DVS4|Q6FI78|Q9NYS1	Missense_Mutation	SNP	ENST00000343470.4	37	c.577G>A	CCDS3374.1	.	.	.	.	.	.	.	.	.	.	C	9.674	1.147391	0.21288	.	.	ENSG00000145220	ENST00000343470;ENST00000452476	T;T	0.33654	1.4;1.4	5.09	4.24	0.50183	.	0.694509	0.14628	N	0.308017	T	0.31888	0.0811	M	0.68952	2.095	0.47905	D	0.999544	B	0.17852	0.024	B	0.12837	0.008	T	0.08166	-1.0735	10	0.07030	T	0.85	-15.7178	9.1036	0.36685	0.0:0.7685:0.1485:0.083	.	193	Q9NX58	LYAR_HUMAN	K	193	ENSP00000345917:E193K;ENSP00000397367:E193K	ENSP00000345917:E193K	E	-	1	0	LYAR	4327250	1.000000	0.71417	0.952000	0.39060	0.105000	0.19272	4.125000	0.57931	1.252000	0.44001	0.655000	0.94253	GAA		0.428	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246800.2		NM_017816		25	88	0	0	0	1	0	25	88		
HTRA3	94031	broad.mit.edu	37	4	8293139	8293139	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:8293139C>T	ENST00000307358.2	+	4	955	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	HTRA3_ENST00000382512.3_Missense_Mutation_p.R251W	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	251	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GGCCGACCTGCGGCCTGGGGA	0.612																																						uc003gla.2		NaN																	0				ovary(1)	1						c.(751-753)CGG>TGG		HtrA serine peptidase 3 precursor							78.0	79.0	79.0					4																	8293139		2203	4300	6503	SO:0001583	missense	94031				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr4:8293139C>T	AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"""pregnancy-related serine protease"""	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.751C>T	4.37:g.8293139C>T	ENSP00000303766:p.Arg251Trp					HTRA3_uc003gkz.2_Missense_Mutation_p.R251W	p.R251W	NM_053044	NP_444272	P83110	HTRA3_HUMAN			4	955	+			251			Serine protease.		Q7Z7A2	Missense_Mutation	SNP	ENST00000307358.2	37	c.751C>T	CCDS3400.1	.	.	.	.	.	.	.	.	.	.	c	15.02	2.708919	0.48517	.	.	ENSG00000170801	ENST00000307358;ENST00000382512	D;D	0.89123	-2.47;-2.47	4.21	2.08	0.27032	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	D	0.95098	0.8412	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94984	0.8128	10	0.87932	D	0	-12.9876	11.3633	0.49657	0.509:0.491:0.0:0.0	.	251;251	P83110;P83110-2	HTRA3_HUMAN;.	W	251	ENSP00000303766:R251W;ENSP00000371952:R251W	ENSP00000303766:R251W	R	+	1	2	HTRA3	8344039	0.996000	0.38824	1.000000	0.80357	0.407000	0.30961	0.452000	0.21795	0.730000	0.32425	0.461000	0.40582	CGG		0.612	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1		NM_053044		22	105	0	0	0	1	0	22	105		
SLC2A9	56606	broad.mit.edu	37	4	10027568	10027568	+	Missense_Mutation	SNP	C	C	T	rs200503549		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:10027568C>T	ENST00000506583.1	-	3	240	c.23G>A	c.(22-24)cGa>cAa	p.R8Q	SLC2A9_ENST00000309065.3_Missense_Mutation_p.R8Q			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	0					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	ATCTTCTCCTCGGTCCTTTTT	0.388																																						uc003gmd.2		NaN																	0				ovary(3)	3						c.(22-24)CGA>CAA		solute carrier family 2, member 9 protein							147.0	150.0	149.0					4																	10027568		2203	4300	6503	SO:0001583	missense	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:10027568C>T	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000506583.1:c.23G>A	4.37:g.10027568C>T	ENSP00000422209:p.Arg8Gln						p.R8Q	NM_001001290	NP_001001290	Q9NRM0	GTR9_HUMAN			2	182	-			Error:Variant_position_missing_in_Q9NRM0_after_alignment					Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000506583.1	37	c.23G>A	CCDS3406.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.853136	0.00563	.	.	ENSG00000109667	ENST00000506583;ENST00000309065;ENST00000513129	D;D;D	0.87412	-1.62;-1.62;-2.25	3.59	0.806	0.18708	.	.	.	.	.	T	0.64768	0.2628	N	0.02011	-0.69	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.52616	-0.8552	8	.	.	.	.	6.6076	0.22734	0.0:0.3235:0.3442:0.3323	.	8	Q9NRM0-2	.	Q	8	ENSP00000422209:R8Q;ENSP00000311383:R8Q;ENSP00000426800:R8Q	.	R	-	2	0	SLC2A9	9636666	0.004000	0.15560	0.004000	0.12327	0.031000	0.12232	0.701000	0.25616	-0.070000	0.12908	-2.352000	0.00242	CGA		0.388	SLC2A9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207054.2				5	57	0	0	0	1	0	5	57		
WDR1	9948	broad.mit.edu	37	4	10079487	10079487	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:10079487C>T	ENST00000499869.2	-	13	1652	c.1459G>A	c.(1459-1461)Gag>Aag	p.E487K	WDR1_ENST00000382452.2_Missense_Mutation_p.E487K|WDR1_ENST00000502702.1_Missense_Mutation_p.E347K|MIR3138_ENST00000585238.1_RNA|WDR1_ENST00000382451.2_Missense_Mutation_p.E347K|WDR1_ENST00000515743.1_5'UTR			O75083	WDR1_HUMAN	WD repeat domain 1	487					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCCTTGGCCTCTAGGAGCTTG	0.642																																						uc003gmf.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1459-1461)GAG>AAG		WD repeat-containing protein 1 isoform 1							35.0	40.0	39.0					4																	10079487		2165	4258	6423	SO:0001583	missense	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10079487C>T	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.1459G>A	4.37:g.10079487C>T	ENSP00000427687:p.Glu487Lys					WDR1_uc003gmg.2_Missense_Mutation_p.E347K|WDR1_uc010idm.2_RNA	p.E487K	NM_017491	NP_059830	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	13	1742	-			487			WD 9.		A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Missense_Mutation	SNP	ENST00000499869.2	37	c.1459G>A	CCDS54740.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.658948	0.29515	.	.	ENSG00000071127	ENST00000499869;ENST00000382452;ENST00000382451;ENST00000502702;ENST00000439733	T;T;T;T	0.51071	0.72;0.72;1.11;1.11	5.52	4.68	0.58851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.225560	0.44483	D	0.000459	T	0.39226	0.1070	L	0.41710	1.295	0.48236	D	0.999612	B;B	0.20052	0.041;0.003	B;B	0.19946	0.027;0.008	T	0.26467	-1.0102	10	0.56958	D	0.05	-51.101	10.6636	0.45717	0.1488:0.708:0.1432:0.0	.	347;487	O75083-3;O75083	.;WDR1_HUMAN	K	487;487;347;347;322	ENSP00000427687:E487K;ENSP00000371890:E487K;ENSP00000371889:E347K;ENSP00000426725:E347K	ENSP00000371889:E347K	E	-	1	0	WDR1	9688585	0.995000	0.38212	1.000000	0.80357	0.053000	0.15095	2.676000	0.46883	1.321000	0.45227	-0.169000	0.13324	GAG		0.642	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1				7	26	0	0	0	1	0	7	26		
ZNF518B	85460	broad.mit.edu	37	4	10446884	10446884	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:10446884G>A	ENST00000326756.3	-	3	1507	c.1069C>T	c.(1069-1071)Cag>Tag	p.Q357*		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	357					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ACAAGCTGCTGTGTACCATTG	0.453																																						uc003gmn.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(1069-1071)CAG>TAG		zinc finger protein 518B							115.0	114.0	114.0					4																	10446884		2203	4300	6503	SO:0001587	stop_gained	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10446884G>A	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.1069C>T	4.37:g.10446884G>A	ENSP00000317614:p.Gln357*						p.Q357*	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN			3	1556	-			357					Q96LN8	Nonsense_Mutation	SNP	ENST00000326756.3	37	c.1069C>T	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	G	41	8.899807	0.98996	.	.	ENSG00000178163	ENST00000326756	.	.	.	6.17	6.17	0.99709	.	0.194297	0.35970	N	0.002875	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.2381	13.0796	0.59107	0.0723:0.0:0.9277:0.0	.	.	.	.	X	357	.	ENSP00000317614:Q357X	Q	-	1	0	ZNF518B	10055982	1.000000	0.71417	0.983000	0.44433	0.991000	0.79684	4.542000	0.60677	2.941000	0.99782	0.655000	0.94253	CAG		0.453	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1		NM_053042		36	105	0	0	0	1	0	36	105		
CC2D2A	57545	broad.mit.edu	37	4	15602891	15602891	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:15602891C>G	ENST00000503292.1	+	38	4886	c.4706C>G	c.(4705-4707)tCt>tGt	p.S1569C	CC2D2A_ENST00000413206.1_Missense_Mutation_p.S1569C|CC2D2A_ENST00000424120.1_Missense_Mutation_p.S1569C|CC2D2A_ENST00000389652.5_Missense_Mutation_p.S1461C	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1569					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						ATGCCTTATTCTGAAGTGAAG	0.333																																						uc010idv.2		NaN																	0				pancreas(2)|ovary(1)	3						c.(4705-4707)TCT>TGT		coiled-coil and C2 domain containing 2A isoform							120.0	105.0	110.0					4																	15602891		1851	4098	5949	SO:0001583	missense	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15602891C>G	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.4706C>G	4.37:g.15602891C>G	ENSP00000421809:p.Ser1569Cys					CC2D2A_uc003gnx.2_Missense_Mutation_p.S1461C|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA	p.S1569C	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN			38	4951	+			1569					A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	c.4706C>G	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264470	0.59431	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	5.55	4.71	0.59529	.	0.054541	0.85682	D	0.000000	D	0.85186	0.5639	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.987	D	0.86564	0.1843	10	0.56958	D	0.05	.	14.883	0.70547	0.0:0.9308:0.0:0.0692	.	1569;1461	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	C	1569;1569;1461;1461;1569;1461	ENSP00000403465:S1569C;ENSP00000398391:S1569C;ENSP00000421809:S1569C;ENSP00000374303:S1461C	ENSP00000374303:S1461C	S	+	2	0	CC2D2A	15211989	1.000000	0.71417	0.972000	0.41901	0.524000	0.34500	5.465000	0.66725	1.467000	0.48044	-0.150000	0.13652	TCT		0.333	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2		NM_001080522		6	14	0	0	0	1	0	6	14		
LGI2	55203	broad.mit.edu	37	4	25005550	25005550	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:25005550G>A	ENST00000382114.4	-	8	1346	c.1161C>T	c.(1159-1161)ctC>ctT	p.L387L		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	387						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TGGACAGGATGAGATGCGATT	0.493																																						uc003grf.2		NaN																	0					0						c.(1159-1161)CTC>CTT		leucine-rich repeat LGI family, member 2							123.0	129.0	127.0					4																	25005550		2203	4300	6503	SO:0001819	synonymous_variant	55203					extracellular region		g.chr4:25005550G>A	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1161C>T	4.37:g.25005550G>A							p.L387L	NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN			8	1260	-		Breast(46;0.173)	387			EAR 4.		Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Silent	SNP	ENST00000382114.4	37	c.1161C>T	CCDS3431.1																																																																																				0.493	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1				42	123	0	0	0	1	0	42	123		
ANAPC4	29945	broad.mit.edu	37	4	25419344	25419344	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:25419344C>T	ENST00000315368.3	+	28	2324	c.2182C>T	c.(2182-2184)Cga>Tga	p.R728*	ANAPC4_ENST00000510092.1_Nonsense_Mutation_p.R729*	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	728					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				GAATGGTTTTCGAAAAGTGTC	0.398																																						uc003gro.2		NaN																	0				ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5						c.(2182-2184)CGA>TGA		anaphase-promoting complex subunit 4							226.0	207.0	214.0					4																	25419344		2203	4300	6503	SO:0001587	stop_gained	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25419344C>T	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.2182C>T	4.37:g.25419344C>T	ENSP00000318775:p.Arg728*					ANAPC4_uc003grp.2_Nonsense_Mutation_p.R614*|ANAPC4_uc003grq.2_Nonsense_Mutation_p.R181*	p.R728*	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN			28	2311	+		Breast(46;0.0503)	728					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Nonsense_Mutation	SNP	ENST00000315368.3	37	c.2182C>T	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	C	39	7.789736	0.98492	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0814	15.1232	0.72460	0.1501:0.8499:0.0:0.0	.	.	.	.	X	728;729	.	ENSP00000318775:R728X	R	+	1	2	ANAPC4	25028442	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	4.081000	0.57627	2.636000	0.89361	0.643000	0.83706	CGA		0.398	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1		NM_013367		30	89	0	0	0	1	0	30	89		
TLR6	10333	broad.mit.edu	37	4	38830852	38830852	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:38830852C>G	ENST00000381950.1	-	1	308	c.243G>C	c.(241-243)ttG>ttC	p.L81F	TLR6_ENST00000436693.2_Missense_Mutation_p.L81F			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	81					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|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)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGGAAAGTCTCAAAACTGTCA	0.373																																						uc003gtm.2		NaN																	0				ovary(2)	2						c.(241-243)TTG>TTC		toll-like receptor 6 precursor							55.0	52.0	53.0					4																	38830852		2203	4300	6503	SO:0001583	missense	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38830852C>G		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.243G>C	4.37:g.38830852C>G	ENSP00000371376:p.Leu81Phe					TLR6_uc010ifg.1_Missense_Mutation_p.L81F	p.L81F	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN			1	309	-			81			LRR 2.|Extracellular (Potential).		B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	c.243G>C	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671780	0.67928	.	.	ENSG00000174130	ENST00000436693;ENST00000381950;ENST00000508542;ENST00000508254;ENST00000514655	T;T;T;T	0.80304	-1.36;-1.36;-1.36;2.52	5.55	0.763	0.18459	.	0.000000	0.52532	D	0.000066	D	0.88764	0.6525	M	0.93420	3.415	0.48511	D	0.999661	D	0.59357	0.985	D	0.66497	0.944	D	0.85057	0.0932	10	0.59425	D	0.04	.	4.7722	0.13162	0.1715:0.2165:0.0:0.612	.	81	Q9Y2C9	TLR6_HUMAN	F	81	ENSP00000389600:L81F;ENSP00000371376:L81F;ENSP00000424718:L81F;ENSP00000423326:L81F	ENSP00000371376:L81F	L	-	3	2	TLR6	38507247	1.000000	0.71417	0.577000	0.28562	0.979000	0.70002	0.597000	0.24059	0.173000	0.19788	0.561000	0.74099	TTG		0.373	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1				14	49	0	0	0	1	0	14	49		
RFC1	5981	broad.mit.edu	37	4	39318616	39318616	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:39318616C>G	ENST00000381897.1	-	10	1255	c.1122G>C	c.(1120-1122)aaG>aaC	p.K374N	RFC1_ENST00000349703.2_Missense_Mutation_p.K374N	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	374					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TAGTGCGTTTCTTTTCAGAAT	0.378																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	uc003gty.1		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1120-1122)AAG>AAC		replication factor C large subunit							118.0	117.0	117.0					4																	39318616		2203	4300	6503	SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39318616C>G	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1122G>C	4.37:g.39318616C>G	ENSP00000371321:p.Lys374Asn					RFC1_uc003gtx.1_Missense_Mutation_p.K374N	p.K374N	NM_002913	NP_002904	P35251	RFC1_HUMAN			10	1256	-			374					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.1122G>C	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764212	0.89932	.	.	ENSG00000035928	ENST00000381897;ENST00000349703;ENST00000504554	T;T;T	0.55052	0.54;0.54;0.88	5.93	5.09	0.68999	.	0.044150	0.85682	D	0.000000	T	0.70351	0.3214	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.979;0.999	T	0.67681	-0.5608	10	0.36615	T	0.2	-12.1151	15.4118	0.74933	0.0:0.9326:0.0:0.0674	.	374;374	P35251;P35251-2	RFC1_HUMAN;.	N	374;374;6	ENSP00000371321:K374N;ENSP00000261424:K374N;ENSP00000422129:K6N	ENSP00000261424:K374N	K	-	3	2	RFC1	38995011	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.693000	0.61753	2.814000	0.96858	0.591000	0.81541	AAG		0.378	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1		NM_002913		15	31	0	0	0	1	0	15	31		
GABRA4	2557	broad.mit.edu	37	4	46979555	46979555	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:46979555C>T	ENST00000264318.3	-	4	1348	c.366G>A	c.(364-366)atG>atA	p.M122I		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	122					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|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)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					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)	TCGTTACCATCATATTGTTCA	0.363																																					Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(364-366)ATG>ATA		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						106.0	103.0	104.0					4																	46979555		2203	4299	6502	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46979555C>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.366G>A	4.37:g.46979555C>T	ENSP00000264318:p.Met122Ile						p.M122I	NM_000809	NP_000800	P48169	GBRA4_HUMAN			4	505	-			122			Extracellular (Probable).		Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.366G>A	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.803072	0.50315	.	.	ENSG00000109158	ENST00000264318	T	0.78816	-1.21	5.43	5.43	0.79202	Neurotransmitter-gated ion-channel ligand-binding (3);	0.325688	0.38492	N	0.001674	T	0.59418	0.2192	N	0.08118	0	0.39005	D	0.959437	B	0.13594	0.008	B	0.19946	0.027	T	0.57476	-0.7805	10	0.33940	T	0.23	.	11.7754	0.51983	0.0:0.9208:0.0:0.0792	.	122	P48169	GBRA4_HUMAN	I	122	ENSP00000264318:M122I	ENSP00000264318:M122I	M	-	3	0	GABRA4	46674312	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.557000	0.36299	2.830000	0.97506	0.585000	0.79938	ATG		0.363	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1				16	43	0	0	0	1	0	16	43		
ATP10D	57205	broad.mit.edu	37	4	47525165	47525165	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:47525165G>A	ENST00000273859.3	+	4	891	c.622G>A	c.(622-624)Gag>Aag	p.E208K	ATP10D_ENST00000504445.1_Missense_Mutation_p.E208K	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	208					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CTGTCACATTGAGACTTCTGG	0.458																																						uc003gxk.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(622-624)GAG>AAG		ATPase, class V, type 10D							122.0	108.0	113.0					4																	47525165		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47525165G>A	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.622G>A	4.37:g.47525165G>A	ENSP00000273859:p.Glu208Lys					ATP10D_uc003gxj.3_Missense_Mutation_p.E208K	p.E208K	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			4	786	+			208			Cytoplasmic (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.622G>A	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	36	5.659355	0.96734	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	D;D	0.90385	-2.66;-2.66	5.74	5.74	0.90152	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.060902	0.64402	D	0.000006	D	0.97087	0.9048	H	0.96142	3.775	0.58432	D	0.999997	D;D	0.71674	0.998;0.998	D;D	0.79108	0.985;0.992	D	0.97835	1.0265	10	0.72032	D	0.01	-23.0962	18.8998	0.92437	0.0:0.0:1.0:0.0	.	208;208	Q9P241;Q6PEW3	AT10D_HUMAN;.	K	208	ENSP00000273859:E208K;ENSP00000420909:E208K	ENSP00000273859:E208K	E	+	1	0	ATP10D	47219922	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.711000	0.98735	2.716000	0.92895	0.484000	0.47621	GAG		0.458	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1		NM_020453		13	50	0	0	0	1	0	13	50		
TEC	7006	broad.mit.edu	37	4	48140806	48140806	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:48140806C>G	ENST00000381501.3	-	17	1845	c.1688G>C	c.(1687-1689)aGa>aCa	p.R563T	TEC_ENST00000511471.2_5'Flank	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	563	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> K (in a lung adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.R563K(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						AAAAGGCATTCTGCCTTCCGT	0.458																																						uc003gxz.2		NaN																	1	Substitution - Missense(1)	p.R563K(1)	lung(1)	lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9						c.(1687-1689)AGA>ACA		tec protein tyrosine kinase							83.0	84.0	83.0					4																	48140806		2203	4300	6503	SO:0001583	missense	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48140806C>G	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.1688G>C	4.37:g.48140806C>G	ENSP00000370912:p.Arg563Thr						p.R563T	NM_003215	NP_003206	P42680	TEC_HUMAN			17	1779	-			563		R -> K (in a lung adenocarcinoma sample; somatic mutation).	Protein kinase.		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	c.1688G>C	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133079	0.37630	.	.	ENSG00000135605	ENST00000381501	D	0.82619	-1.63	5.43	3.71	0.42584	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.281924	0.31797	N	0.007056	T	0.79191	0.4404	L	0.44542	1.39	0.28808	N	0.898382	B	0.27192	0.171	B	0.39152	0.292	T	0.73285	-0.4031	10	0.56958	D	0.05	.	6.9912	0.24755	0.0:0.6173:0.0:0.3827	.	563	P42680	TEC_HUMAN	T	563	ENSP00000370912:R563T	ENSP00000370912:R563T	R	-	2	0	TEC	47835563	0.749000	0.28305	0.982000	0.44146	0.664000	0.39144	1.169000	0.31871	0.782000	0.33613	0.561000	0.74099	AGA		0.458	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3				14	50	0	0	0	1	0	14	50		
FIP1L1	81608	broad.mit.edu	37	4	54294335	54294335	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:54294335C>G	ENST00000337488.6	+	13	1353	c.1159C>G	c.(1159-1161)Ctg>Gtg	p.L387V	FIP1L1_ENST00000507922.1_Missense_Mutation_p.L372V|FIP1L1_ENST00000306932.6_Missense_Mutation_p.L313V|FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Missense_Mutation_p.L372V	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	387	Pro-rich.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGCTCCACCTCTGATTCCACC	0.423			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	uc003gzy.2		NaN		Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		0				ovary(1)|skin(1)	2						c.(1159-1161)CTG>GTG		FIP1 like 1 isoform 1							68.0	68.0	68.0					4																	54294335		2203	4300	6503	SO:0001583	missense	81608				mRNA processing	nucleus	RNA binding	g.chr4:54294335C>G	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1159C>G	4.37:g.54294335C>G	ENSP00000336752:p.Leu387Val					PDGFRA_uc003haa.2_Intron|FIP1L1_uc003gzx.3_Missense_Mutation_p.L372V|FIP1L1_uc011bzt.1_Missense_Mutation_p.L351V|FIP1L1_uc011bzu.1_Missense_Mutation_p.L372V|FIP1L1_uc003gzz.2_Missense_Mutation_p.L313V|FIP1L1_uc003hab.2_Missense_Mutation_p.L352V|FIP1L1_uc003hac.2_Missense_Mutation_p.L132V|FIP1L1_uc010ign.2_RNA|FIP1L1_uc003had.2_5'UTR|FIP1L1_uc003hae.2_5'UTR	p.L387V	NM_030917	NP_112179	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		13	1345	+			387			Pro-rich.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	37	c.1159C>G	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.232350	0.58777	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000504094	T;T;T;T;T	0.47869	2.27;0.83;0.83;2.27;2.03	5.16	3.42	0.39159	.	0.000000	0.52532	D	0.000072	T	0.57140	0.2033	L	0.48642	1.525	0.80722	D	1	D;D;P;D;P;D	0.56035	0.974;0.974;0.956;0.974;0.956;0.974	D;D;P;D;P;D	0.67725	0.953;0.953;0.899;0.953;0.899;0.953	T	0.50320	-0.8842	10	0.29301	T	0.29	-6.5248	12.1303	0.53940	0.0:0.8603:0.0:0.1397	.	372;155;372;313;387;372	G3XAD6;B4DTW7;B4DIR3;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;.;.;FIP1_HUMAN;.	V	387;372;372;313;35	ENSP00000336752:L387V;ENSP00000351383:L372V;ENSP00000425456:L372V;ENSP00000302993:L313V;ENSP00000421691:L35V	ENSP00000302993:L313V	L	+	1	2	FIP1L1	53989092	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.711000	0.47177	0.657000	0.30906	0.563000	0.77884	CTG		0.423	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1		NM_030917		13	56	0	0	0	1	0	13	56		
EPHA5	2044	broad.mit.edu	37	4	66218798	66218798	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:66218798C>G	ENST00000273854.3	-	13	2860	c.2260G>C	c.(2260-2262)Gag>Cag	p.E754Q	EPHA5_ENST00000354839.4_Missense_Mutation_p.E732Q|EPHA5_ENST00000511294.1_Missense_Mutation_p.E755Q|EPHA5_ENST00000432638.2_Missense_Mutation_p.E591Q	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	754	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TCCATATACTCTGTCACGATC	0.358										TSP Lung(17;0.13)																												uc003hcy.2		NaN																	0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(2260-2262)GAG>CAG		ephrin receptor EphA5 isoform a precursor							108.0	99.0	102.0					4																	66218798		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66218798C>G	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2260G>C	4.37:g.66218798C>G	ENSP00000273854:p.Glu754Gln	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.E686Q|EPHA5_uc003hcz.2_Missense_Mutation_p.E732Q|EPHA5_uc011cah.1_Missense_Mutation_p.E755Q|EPHA5_uc011cai.1_Missense_Mutation_p.E733Q|EPHA5_uc003hda.2_Missense_Mutation_p.E755Q	p.E754Q	NM_004439	NP_004430	P54756	EPHA5_HUMAN			13	2453	-			754			Cytoplasmic (Potential).|Protein kinase.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.2260G>C	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	31	5.073768	0.94000	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.73	5.73	0.89815	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.210173	0.32430	N	0.006101	D	0.91449	0.7301	M	0.92738	3.34	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	D	0.92772	0.6233	10	0.87932	D	0	.	19.907	0.97012	0.0:1.0:0.0:0.0	.	733;755;732;754	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	Q	754;591;732;755	ENSP00000273854:E754Q;ENSP00000389208:E591Q;ENSP00000346899:E732Q;ENSP00000427638:E755Q	ENSP00000273854:E754Q	E	-	1	0	EPHA5	65901393	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.814000	0.86154	2.718000	0.92993	0.585000	0.79938	GAG		0.358	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2		NM_004439		14	26	0	0	0	1	0	14	26		
EPHA5	2044	broad.mit.edu	37	4	66231707	66231707	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:66231707C>A	ENST00000273854.3	-	11	2593	c.1993G>T	c.(1993-1995)Gaa>Taa	p.E665*	EPHA5_ENST00000354839.4_Nonsense_Mutation_p.E643*|EPHA5_ENST00000511294.1_Nonsense_Mutation_p.E666*|EPHA5_ENST00000432638.2_Nonsense_Mutation_p.E502*	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	665					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTAGCAAATTCGTGGACAGCT	0.363										TSP Lung(17;0.13)																												uc003hcy.2		NaN																	0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(1993-1995)GAA>TAA		ephrin receptor EphA5 isoform a precursor							226.0	182.0	197.0					4																	66231707		2203	4300	6503	SO:0001587	stop_gained	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66231707C>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1993G>T	4.37:g.66231707C>A	ENSP00000273854:p.Glu665*	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Nonsense_Mutation_p.E597*|EPHA5_uc003hcz.2_Nonsense_Mutation_p.E643*|EPHA5_uc011cah.1_Nonsense_Mutation_p.E666*|EPHA5_uc011cai.1_Nonsense_Mutation_p.E644*|EPHA5_uc003hda.2_Nonsense_Mutation_p.E666*	p.E665*	NM_004439	NP_004430	P54756	EPHA5_HUMAN			11	2186	-			665			Cytoplasmic (Potential).		Q7Z3F2	Nonsense_Mutation	SNP	ENST00000273854.3	37	c.1993G>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	45	11.854776	0.99610	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	.	.	.	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	19.478	0.94996	0.0:1.0:0.0:0.0	.	.	.	.	X	665;502;643;666	.	ENSP00000273854:E665X	E	-	1	0	EPHA5	65914302	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.925000	0.63425	2.609000	0.88269	0.557000	0.71058	GAA		0.363	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2		NM_004439		21	66	1	0	1.2644e-06	1	1.30368e-06	21	66		
GNRHR	2798	broad.mit.edu	37	4	68619556	68619556	+	Silent	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:68619556G>T	ENST00000226413.4	-	1	522	c.498C>A	c.(496-498)ctC>ctA	p.L166L	GNRHR_ENST00000420975.2_Silent_p.L166L|UBA6-AS1_ENST00000502758.1_RNA|UBA6-AS1_ENST00000500538.2_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	166					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	AGACACTACTGAGGATCCAGG	0.463																																						uc003hdn.2		NaN																	0				ovary(1)	1						c.(496-498)CTC>CTA		gonadotropin-releasing hormone receptor isoform	Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)						55.0	51.0	53.0					4																	68619556		2203	4300	6503	SO:0001819	synonymous_variant	2798				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	g.chr4:68619556G>T		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"""GPCR / Class A : Gonadotropin-releasing hormone receptors"""	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.498C>A	4.37:g.68619556G>T						LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Silent_p.L166L	p.L166L	NM_000406	NP_000397	P30968	GNRHR_HUMAN			1	2249	-			166			Helical; Name=4; (Potential).		O75793|Q14D13|Q92644	Silent	SNP	ENST00000226413.4	37	c.498C>A	CCDS3517.1																																																																																				0.463	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2				9	29	1	0	1.12685e-05	1	1.14925e-05	9	29		
GC	2638	broad.mit.edu	37	4	72649680	72649680	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:72649680C>G	ENST00000273951.8	-	1	399	c.56G>C	c.(55-57)aGa>aCa	p.R19T	GC_ENST00000504199.1_Missense_Mutation_p.R38T|GC_ENST00000513476.1_Missense_Mutation_p.R19T	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	19	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	AATCTTACCTCTCTCTAAAGC	0.363																																						uc003hge.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(55-57)AGA>ACA		vitamin D-binding protein precursor	Cholecalciferol(DB00169)						84.0	81.0	82.0					4																	72649680		2203	4300	6503	SO:0001583	missense	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72649680C>G	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.56G>C	4.37:g.72649680C>G	ENSP00000273951:p.Arg19Thr					GC_uc010iie.2_Missense_Mutation_p.R19T|GC_uc010iif.2_Missense_Mutation_p.R38T	p.R19T	NM_000583	NP_000574	P02774	VTDB_HUMAN	Lung(101;0.148)		1	209	-		all_hematologic(202;0.107)	19			Albumin 1.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	ENST00000273951.8	37	c.56G>C	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	C	7.123	0.578269	0.13686	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476;ENST00000506245	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	5.03	5.03	0.67393	.	0.153887	0.49305	D	0.000148	T	0.65450	0.2692	L	0.38531	1.155	0.41050	D	0.985291	B;B	0.24043	0.096;0.019	B;B	0.17098	0.017;0.006	T	0.65763	-0.6089	10	0.66056	D	0.02	.	13.7261	0.62759	0.0:1.0:0.0:0.0	.	38;19	D6RAK8;D6RF35	.;.	T	19;38;19;19	ENSP00000273951:R19T;ENSP00000421725:R38T;ENSP00000426683:R19T;ENSP00000426718:R19T	ENSP00000273951:R19T	R	-	2	0	GC	72868544	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	3.526000	0.53509	2.621000	0.88768	0.591000	0.81541	AGA		0.363	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2				16	44	0	0	0	1	0	16	44		
CXCL13	10563	broad.mit.edu	37	4	78528941	78528941	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:78528941G>A	ENST00000286758.4	+	3	227	c.149G>A	c.(148-150)cGa>cAa	p.R50Q		NM_006419.2	NP_006410.1	O43927	CXL13_HUMAN	chemokine (C-X-C motif) ligand 13	50					activation of Rap GTPase activity (GO:0032861)|B cell chemotaxis (GO:0035754)|B cell chemotaxis across high endothelial venule (GO:0035769)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|chronic inflammatory response (GO:0002544)|defense response to bacterium (GO:0042742)|endothelial cell chemotaxis to fibroblast growth factor (GO:0035768)|germinal center formation (GO:0002467)|immune response (GO:0006955)|lymph node development (GO:0048535)|lymphocyte chemotaxis across high endothelial venule (GO:0002518)|negative regulation of endothelial cell chemotaxis to fibroblast growth factor (GO:2000545)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of integrin activation (GO:0033625)|positive regulation of T cell chemotaxis (GO:0010820)|regulation of angiogenesis (GO:0045765)|regulation of humoral immune response (GO:0002920)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR10 chemokine receptor binding (GO:0031735)|chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|CXCR5 chemokine receptor binding (GO:0031724)|fibroblast growth factor binding (GO:0017134)|heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|receptor agonist activity (GO:0048018)			large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1)	4						TTCATTGATCGAATTCAAATC	0.393																																						uc003hkr.2		NaN																	0					0						c.(148-150)CGA>CAA		chemokine (C-X-C motif) ligand 13 (B-cell							127.0	117.0	120.0					4																	78528941		2203	4300	6503	SO:0001583	missense	10563				activation of Rap GTPase activity|B cell chemotaxis|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|positive regulation of T cell chemotaxis|regulation of angiogenesis|regulation of humoral immune response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity	g.chr4:78528941G>A	AJ002211	CCDS3582.1	4q21	2013-02-25	2008-08-29	2002-08-23	ENSG00000156234	ENSG00000156234		"""Endogenous ligands"""	10639	protein-coding gene	gene with protein product	"""B-cell chemoattractant"""	605149	"""small inducible cytokine B subfamily (Cys-X-Cys motif), member 13 (B-cell chemoattractant)"""	SCYB13		9463416, 9486651	Standard	NM_006419		Approved	BLC, BCA-1, BLR1L, ANGIE, ANGIE2	uc003hkr.3	O43927	OTTHUMG00000130201	ENST00000286758.4:c.149G>A	4.37:g.78528941G>A	ENSP00000286758:p.Arg50Gln						p.R50Q	NM_006419	NP_006410	O43927	CXL13_HUMAN			3	227	+			50						Missense_Mutation	SNP	ENST00000286758.4	37	c.149G>A	CCDS3582.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640177	0.47153	.	.	ENSG00000156234	ENST00000286758	T	0.04970	3.52	4.73	-1.86	0.07760	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.580895	0.16956	N	0.192699	T	0.05868	0.0153	L	0.54908	1.71	0.09310	N	1	P	0.50528	0.936	B	0.43413	0.419	T	0.40079	-0.9582	10	0.17369	T	0.5	-4.6968	6.3382	0.21309	0.2293:0.1249:0.6458:0.0	.	50	O43927	CXL13_HUMAN	Q	50	ENSP00000286758:R50Q	ENSP00000286758:R50Q	R	+	2	0	CXCL13	78747965	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.421000	0.02455	-0.215000	0.10063	-0.262000	0.10625	CGA		0.393	CXCL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252519.1				21	66	0	0	0	1	0	21	66		
CNOT6L	246175	broad.mit.edu	37	4	78695757	78695757	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:78695757G>A	ENST00000504123.1	-	3	371	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L	CNOT6L_ENST00000264903.4_Silent_p.L81L|CNOT6L_ENST00000506166.1_5'UTR			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	81	Required for interaction with CNOT1, CNOT3 and CNOT7.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						AGGTAAACCAGATTATGAAGC	0.418																																						uc011ccd.1		NaN																	0				large_intestine(1)	1						c.(241-243)CTG>TTG		CCR4-NOT transcription complex, subunit 6-like							112.0	108.0	109.0					4																	78695757		1936	4149	6085	SO:0001819	synonymous_variant	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78695757G>A	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.241C>T	4.37:g.78695757G>A						CNOT6L_uc003hks.2_Silent_p.L81L|CNOT6L_uc011cce.1_Silent_p.L81L	p.L81L	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN			3	372	-			81			LRR 2.		Q9UF92	Silent	SNP	ENST00000504123.1	37	c.241C>T		.	.	.	.	.	.	.	.	.	.	G	9.216	1.032043	0.19590	.	.	ENSG00000138767	ENST00000515506	.	.	.	4.29	2.5	0.30297	.	.	.	.	.	T	0.60287	0.2257	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57230	-0.7847	4	.	.	.	-11.8729	11.0498	0.47880	0.1626:0.0:0.8374:0.0	.	.	.	.	F	109	.	.	S	-	2	0	CNOT6L	78914781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.811000	0.62606	0.902000	0.36520	0.561000	0.74099	TCT		0.418	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1				8	30	0	0	0	1	0	8	30		
GK2	2712	broad.mit.edu	37	4	80328225	80328225	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:80328225C>G	ENST00000358842.3	-	1	1147	c.1130G>C	c.(1129-1131)aGa>aCa	p.R377T		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GAGTATCCCTCTTGCACTGGG	0.428																																						uc003hlu.2		NaN																	0				ovary(2)|skin(2)	4						c.(1129-1131)AGA>ACA		glycerol kinase 2							119.0	114.0	115.0					4																	80328225		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80328225C>G	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.1130G>C	4.37:g.80328225C>G	ENSP00000351706:p.Arg377Thr						p.R377T	NM_033214	NP_149991	Q14410	GLPK2_HUMAN			1	1148	-			377					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.1130G>C	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504557	0.64410	.	.	ENSG00000196475	ENST00000358842	D	0.91996	-2.95	4.04	4.04	0.47022	Carbohydrate kinase, FGGY, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95881	0.8659	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96136	0.9096	10	0.87932	D	0	-5.9477	14.504	0.67741	0.0:1.0:0.0:0.0	.	377	Q14410	GLPK2_HUMAN	T	377	ENSP00000351706:R377T	ENSP00000351706:R377T	R	-	2	0	GK2	80547249	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	6.927000	0.75840	2.558000	0.86282	0.585000	0.79938	AGA		0.428	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2		NM_033214		27	107	0	0	0	1	0	27	107		
PRKG2	5593	broad.mit.edu	37	4	82056420	82056420	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:82056420G>C	ENST00000395578.1	-	14	1781	c.1665C>G	c.(1663-1665)ttC>ttG	p.F555L	PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Missense_Mutation_p.F555L|PRKG2_ENST00000545647.1_Missense_Mutation_p.F135L|PRKG2_ENST00000418486.2_Missense_Mutation_p.F526L			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	555	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AAGCAACGCAGAATTTGGAGG	0.408																																						uc003hmh.2		NaN																	0				breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						c.(1663-1665)TTC>TTG		protein kinase, cGMP-dependent, type II							126.0	121.0	122.0					4																	82056420		2203	4300	6503	SO:0001583	missense	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82056420G>C	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1665C>G	4.37:g.82056420G>C	ENSP00000378945:p.Phe555Leu					PRKG2_uc011ccf.1_Missense_Mutation_p.F135L|PRKG2_uc011ccg.1_Missense_Mutation_p.F135L|PRKG2_uc011cch.1_Missense_Mutation_p.F526L	p.F555L	NM_006259	NP_006250	Q13237	KGP2_HUMAN			13	1679	-			555			Protein kinase.		B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	c.1665C>G	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892756	0.91889	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486;ENST00000545647	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75939	0.3918	L	0.46670	1.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.76790	-0.2829	10	0.87932	D	0	-22.7355	19.5854	0.95488	0.0:0.0:1.0:0.0	.	526;555	E7EPE6;Q13237	.;KGP2_HUMAN	L	555;555;526;135	ENSP00000378945:F555L;ENSP00000264399:F555L;ENSP00000389038:F526L;ENSP00000439967:F135L	ENSP00000264399:F555L	F	-	3	2	PRKG2	82275444	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.466000	0.53071	2.720000	0.93068	0.650000	0.86243	TTC		0.408	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1		NM_006259		21	49	0	0	0	1	0	21	49		
MAPK10	5602	broad.mit.edu	37	4	87023143	87023143	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:87023143C>T	ENST00000359221.3	-	7	994	c.468G>A	c.(466-468)gtG>gtA	p.V156V	MAPK10_ENST00000395161.2_Silent_p.V156V|MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000395169.3_Silent_p.V118V|MAPK10_ENST00000395160.3_Silent_p.V11V|MAPK10_ENST00000361569.2_Silent_p.V156V|MAPK10_ENST00000395166.1_Silent_p.V118V|MAPK10_ENST00000449047.2_Silent_p.V11V|MAPK10_ENST00000395157.3_Silent_p.V11V			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	156	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CCATCTGAATCACTTGACATA	0.408																																						uc003hpq.2		NaN																	0				stomach(1)|breast(1)|central_nervous_system(1)	3						c.(466-468)GTG>GTA		mitogen-activated protein kinase 10 isoform 2							272.0	252.0	259.0					4																	87023143		2203	4300	6503	SO:0001819	synonymous_variant	5602				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding	g.chr4:87023143C>T	U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.468G>A	4.37:g.87023143C>T						MAPK10_uc010ikg.2_Silent_p.V118V|MAPK10_uc003hpr.2_Silent_p.V118V|MAPK10_uc003hps.2_Silent_p.V156V|MAPK10_uc003hpt.2_Silent_p.V156V|MAPK10_uc003hpu.2_Silent_p.V156V|MAPK10_uc003hpv.2_Silent_p.V11V|MAPK10_uc010ikh.1_RNA|MAPK10_uc003hpn.2_5'Flank|MAPK10_uc003hpo.2_Silent_p.V11V|MAPK10_uc011ccw.1_Silent_p.V42V|MAPK10_uc003hpp.2_Silent_p.V11V	p.V156V	NM_138982	NP_620448	P53779	MK10_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.002)	6	535	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)	156			Protein kinase.		A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Silent	SNP	ENST00000359221.3	37	c.468G>A	CCDS34026.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719469	0.68844	.	.	ENSG00000109339	ENST00000515400	.	.	.	5.94	4.07	0.47477	.	.	.	.	.	T	0.71178	0.3309	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73474	-0.3971	5	0.87932	D	0	-18.8434	11.957	0.52986	0.0:0.6666:0.2661:0.0673	.	.	.	.	N	69	.	ENSP00000309857:D137N	D	-	1	0	MAPK10	87242167	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.666000	0.25097	2.824000	0.97209	0.650000	0.86243	GAT		0.408	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2				31	133	0	0	0	1	0	31	133		
PTPN13	5783	broad.mit.edu	37	4	87622524	87622524	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:87622524C>G	ENST00000411767.2	+	7	828	c.765C>G	c.(763-765)ttC>ttG	p.F255L	PTPN13_ENST00000316707.6_Missense_Mutation_p.F255L|PTPN13_ENST00000436978.1_Missense_Mutation_p.F255L|PTPN13_ENST00000511467.1_Missense_Mutation_p.F255L|PTPN13_ENST00000427191.2_Missense_Mutation_p.F255L			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	255					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGAATTATTTCAAGGACATTT	0.378																																						uc003hpz.2		NaN																	0				ovary(4)|breast(1)|kidney(1)	6						c.(763-765)TTC>TTG		protein tyrosine phosphatase, non-receptor type							48.0	45.0	46.0					4																	87622524		1819	4073	5892	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87622524C>G		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.765C>G	4.37:g.87622524C>G	ENSP00000407249:p.Phe255Leu					PTPN13_uc003hpy.2_Missense_Mutation_p.F255L|PTPN13_uc003hqa.2_Missense_Mutation_p.F255L|PTPN13_uc003hqb.2_Missense_Mutation_p.F255L	p.F255L	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	7	1245	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	255					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.765C>G	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	8.291	0.817637	0.16607	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.65	5.65	0.86999	.	0.272809	0.26016	N	0.026856	T	0.19927	0.0479	L	0.29908	0.895	0.31533	N	0.660954	B;B;B;B	0.09022	0.001;0.002;0.001;0.002	B;B;B;B	0.11329	0.005;0.006;0.001;0.003	T	0.13072	-1.0523	10	0.02654	T	1	.	12.9877	0.58602	0.0:0.9265:0.0:0.0735	.	255;255;255;255	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	L	255;255;255;255;255;223	ENSP00000408368:F255L;ENSP00000394794:F255L;ENSP00000322675:F255L;ENSP00000407249:F255L;ENSP00000426626:F255L	ENSP00000322675:F255L	F	+	3	2	PTPN13	87841548	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.791000	0.55469	2.673000	0.90976	0.557000	0.71058	TTC		0.378	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1				5	15	0	0	0	1	0	5	15		
SMARCAD1	56916	broad.mit.edu	37	4	95185963	95185963	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:95185963G>A	ENST00000354268.4	+	10	1460	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.E463K|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.E33K			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	463					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GAACAAATGTGAAGACATTTC	0.348																																						uc003htc.3		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(1387-1389)GAA>AAA		SWI/SNF-related, matrix-associated							93.0	87.0	89.0					4																	95185963		2203	4299	6502	SO:0001583	missense	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95185963G>A	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.1387G>A	4.37:g.95185963G>A	ENSP00000346217:p.Glu463Lys					SMARCAD1_uc003htb.3_Missense_Mutation_p.E463K|SMARCAD1_uc003htd.3_Missense_Mutation_p.E463K|SMARCAD1_uc010ila.2_Missense_Mutation_p.E326K|SMARCAD1_uc011cdw.1_Missense_Mutation_p.E33K	p.E463K	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	10	1642	+			463					B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.1387G>A	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171927	0.38315	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	D;D;D;D	0.91011	-2.42;-2.42;-2.42;-2.77	5.84	5.84	0.93424	.	0.000000	0.49305	D	0.000157	D	0.90195	0.6935	L	0.49350	1.555	0.58432	D	0.999999	B;B	0.28584	0.138;0.216	B;B	0.34824	0.093;0.19	D	0.87090	0.2172	10	0.46703	T	0.11	-22.5847	20.1454	0.98074	0.0:0.0:1.0:0.0	.	463;463	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	K	463;463;463;33	ENSP00000351947:E463K;ENSP00000415576:E463K;ENSP00000346217:E463K;ENSP00000423286:E33K	ENSP00000346217:E463K	E	+	1	0	SMARCAD1	95404986	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.667000	0.68067	2.748000	0.94277	0.650000	0.86243	GAA		0.348	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1		NM_020159		16	48	0	0	0	1	0	16	48		
C4orf17	84103	broad.mit.edu	37	4	100434320	100434320	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:100434320C>G	ENST00000326581.4	+	2	444	c.82C>G	c.(82-84)Cta>Gta	p.L28V	C4orf17_ENST00000514652.1_Missense_Mutation_p.L28V	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	28										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AAGCTGCTTTCTAGTCAGGCA	0.458																																						uc003huw.2		NaN																	0					0						c.(82-84)CTA>GTA		hypothetical protein LOC84103							109.0	93.0	99.0					4																	100434320		2203	4300	6503	SO:0001583	missense	84103							g.chr4:100434320C>G	AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000326581.4:c.82C>G	4.37:g.100434320C>G	ENSP00000322582:p.Leu28Val					C4orf17_uc003hux.2_RNA	p.L28V	NM_032149	NP_115525	Q53FE4	CD017_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)	2	405	+			28					Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Missense_Mutation	SNP	ENST00000326581.4	37	c.82C>G	CCDS3649.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627770	0.46944	.	.	ENSG00000138813	ENST00000326581;ENST00000514652	T;T	0.24538	1.85;1.85	4.88	4.01	0.46588	.	0.569700	0.15346	N	0.267208	T	0.28134	0.0694	L	0.60455	1.87	0.23720	N	0.997027	D	0.56035	0.974	P	0.45506	0.483	T	0.08994	-1.0695	10	0.30854	T	0.27	-7.4747	9.9929	0.41883	0.2104:0.7896:0.0:0.0	.	28	Q53FE4	CD017_HUMAN	V	28	ENSP00000322582:L28V;ENSP00000427663:L28V	ENSP00000322582:L28V	L	+	1	2	C4orf17	100653343	1.000000	0.71417	0.770000	0.31555	0.515000	0.34225	0.773000	0.26661	1.202000	0.43218	0.650000	0.86243	CTA		0.458	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2		NM_032149		22	97	0	0	0	1	0	22	97		
SGMS2	166929	broad.mit.edu	37	4	108820810	108820810	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:108820810C>T	ENST00000394684.4	+	4	1092	c.535C>T	c.(535-537)Cta>Tta	p.L179L	SGMS2_ENST00000394686.3_Silent_p.L179L|SGMS2_ENST00000359079.4_Silent_p.L179L|RP11-286E11.1_ENST00000499098.1_RNA|RP11-286E11.1_ENST00000513071.1_RNA	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	179					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)		TGTTACTACTCTACCTGTGCC	0.398																																						uc003hyl.3		NaN																	0				lung(1)	1						c.(535-537)CTA>TTA		sphingomyelin synthase 2	Choline(DB00122)						181.0	166.0	171.0					4																	108820810		2203	4300	6503	SO:0001819	synonymous_variant	166929				sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	g.chr4:108820810C>T	BC041369	CCDS3677.1	4q25	2008-02-05			ENSG00000164023	ENSG00000164023	2.7.8.27		28395	protein-coding gene	gene with protein product		611574				14685263	Standard	NM_152621		Approved	MGC26963, SMS2	uc003hyl.4	Q8NHU3	OTTHUMG00000131811	ENST00000394684.4:c.535C>T	4.37:g.108820810C>T						uc003hym.1_Intron|SGMS2_uc003hyn.2_Silent_p.L179L|SGMS2_uc003hyo.2_Silent_p.L179L	p.L179L	NM_001136258	NP_001129730	Q8NHU3	SMS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	4	1090	+			179			Helical; (Potential).		A8K2S9|B2RA61	Silent	SNP	ENST00000394684.4	37	c.535C>T	CCDS3677.1																																																																																				0.398	SGMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254752.1		NM_152621		25	81	0	0	0	1	0	25	81		
EGF	1950	broad.mit.edu	37	4	110932606	110932606	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:110932606C>G	ENST00000265171.5	+	24	4064	c.3619C>G	c.(3619-3621)Cag>Gag	p.Q1207E	EGF_ENST00000509793.1_Missense_Mutation_p.Q1165E|EGF_ENST00000503392.1_Missense_Mutation_p.Q1166E	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1207					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GGAGCTGACTCAGTGAAAACT	0.443																																						uc003hzy.3		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(3619-3621)CAG>GAG		epidermal growth factor precursor	Sulindac(DB00605)						87.0	94.0	92.0					4																	110932606		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110932606C>G	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.3619C>G	4.37:g.110932606C>G	ENSP00000265171:p.Gln1207Glu					EGF_uc011cfu.1_Missense_Mutation_p.Q1165E|EGF_uc011cfv.1_Missense_Mutation_p.Q1166E|EGF_uc010imk.2_3'UTR	p.Q1207E	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	24	4071	+		Hepatocellular(203;0.0893)	1207			Cytoplasmic (Potential).		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.3619C>G	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	C	7.023	0.559012	0.13436	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.88354	-2.37;-2.29;-2.03	3.44	1.65	0.23941	.	0.728648	0.11768	N	0.531423	T	0.81079	0.4748	L	0.27053	0.805	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.68542	-0.5381	10	0.44086	T	0.13	.	9.5507	0.39308	0.0:0.5775:0.4225:0.0	.	1166;1165;1207	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	E	1165;1207;1166	ENSP00000424316:Q1165E;ENSP00000265171:Q1207E;ENSP00000421384:Q1166E	ENSP00000265171:Q1207E	Q	+	1	0	EGF	111152055	0.000000	0.05858	0.001000	0.08648	0.297000	0.27493	0.318000	0.19504	0.442000	0.26555	-0.264000	0.10439	CAG		0.443	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1				22	97	0	0	0	1	0	22	97		
ELOVL6	79071	broad.mit.edu	37	4	110972518	110972518	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:110972518C>T	ENST00000394607.3	-	5	937	c.774G>A	c.(772-774)atG>atA	p.M258I	ELOVL6_ENST00000302274.3_Missense_Mutation_p.M258I			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	258					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		TTGTTTTCCTCATTTTGCCGA	0.428																																						uc003hzz.2		NaN																	0				haematopoietic_and_lymphoid_tissue(1)	1						c.(772-774)ATG>ATA		elongation of very long chain fatty acids-like							94.0	91.0	92.0					4																	110972518		2203	4300	6503	SO:0001583	missense	79071				fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding	g.chr4:110972518C>T	AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"""ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"""			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.774G>A	4.37:g.110972518C>T	ENSP00000378105:p.Met258Ile					ELOVL6_uc003iaa.2_Missense_Mutation_p.M258I	p.M258I	NM_001130721	NP_001124193	Q9H5J4	ELOV6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00462)	5	900	-			258					Q4W5L0|Q8NCD1	Missense_Mutation	SNP	ENST00000394607.3	37	c.774G>A	CCDS3690.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.253650	0.22965	.	.	ENSG00000170522	ENST00000394607;ENST00000302274	T;T	0.21543	2.0;2.0	6.17	3.56	0.40772	.	0.943882	0.09074	N	0.852411	T	0.10594	0.0259	N	0.08118	0	0.21652	N	0.999607	B	0.02656	0.0	B	0.04013	0.001	T	0.31806	-0.9930	10	0.44086	T	0.13	-9.7779	4.0204	0.09664	0.1063:0.5323:0.2201:0.1413	.	258	Q9H5J4	ELOV6_HUMAN	I	258	ENSP00000378105:M258I;ENSP00000304736:M258I	ENSP00000304736:M258I	M	-	3	0	ELOVL6	111191967	1.000000	0.71417	0.935000	0.37517	0.956000	0.61745	2.325000	0.43840	0.498000	0.27948	-0.126000	0.14955	ATG		0.428	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255748.1		NM_024090		17	65	0	0	0	1	0	17	65		
ZGRF1	55345	broad.mit.edu	37	4	113507724	113507724	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:113507724C>T	ENST00000505019.1	-	13	3918	c.3793G>A	c.(3793-3795)Gag>Aag	p.E1265K		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1265						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AAGCACAGCTCAGAGCCACTT	0.353																																						uc003iau.2		NaN																	0					0						c.(3793-3795)GAG>AAG		prematurely terminated mRNA decay factor-like							75.0	73.0	74.0					4																	113507724		2203	4300	6503	SO:0001583	missense	55345					integral to membrane	zinc ion binding	g.chr4:113507724C>T																												ENST00000505019.1:c.3793G>A	4.37:g.113507724C>T	ENSP00000424737:p.Glu1265Lys					C4orf21_uc003iav.2_RNA	p.E1265K	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	13	4004	-		Ovarian(17;0.156)	87					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.3793G>A		.	.	.	.	.	.	.	.	.	.	C	16.69	3.191981	0.58017	.	.	ENSG00000138658	ENST00000505019	D	0.84442	-1.85	5.6	4.75	0.60458	.	0.608780	0.14411	N	0.321264	T	0.78848	0.4348	L	0.29908	0.895	0.32321	N	0.562405	P	0.46512	0.879	B	0.41571	0.36	T	0.82735	-0.0310	10	0.56958	D	0.05	-4.3608	12.9279	0.58270	0.0:0.8673:0.0:0.1327	.	1265	G5EA02	.	K	1265	ENSP00000424737:E1265K	ENSP00000404365:E163K	E	-	1	0	C4orf21	113727173	1.000000	0.71417	0.948000	0.38648	0.478000	0.33099	2.745000	0.47459	2.639000	0.89480	0.650000	0.86243	GAG		0.353	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1				7	47	0	0	0	1	0	7	47		
TRPC3	7222	broad.mit.edu	37	4	122853555	122853555	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:122853555C>T	ENST00000379645.3	-	2	931	c.858G>A	c.(856-858)tcG>tcA	p.S286S	TRPC3_ENST00000513531.1_Silent_p.S213S|TRPC3_ENST00000264811.5_Silent_p.S213S	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	201					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CATTGATCCTCGAGCGTGAGT	0.612																																						uc003ieg.2		NaN																	0				ovary(2)	2						c.(856-858)TCG>TCA		transient receptor potential cation channel,							46.0	42.0	43.0					4																	122853555		2203	4300	6503	SO:0001819	synonymous_variant	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122853555C>T	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.858G>A	4.37:g.122853555C>T						TRPC3_uc010inr.2_Silent_p.S213S|TRPC3_uc003ief.2_Silent_p.S213S|TRPC3_uc011cgl.1_5'UTR	p.S286S	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN			2	932	-			201			Cytoplasmic (Potential).		A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Silent	SNP	ENST00000379645.3	37	c.858G>A	CCDS47130.1																																																																																				0.612	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1		NM_003305		13	55	0	0	0	1	0	13	55		
KIAA1109	84162	broad.mit.edu	37	4	123237989	123237989	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:123237989G>A	ENST00000264501.4	+	62	11015	c.10642G>A	c.(10642-10644)Gaa>Aaa	p.E3548K	KIAA1109_ENST00000455637.1_Missense_Mutation_p.E3548K|KIAA1109_ENST00000388738.3_Missense_Mutation_p.E3548K			Q2LD37	K1109_HUMAN	KIAA1109	3548					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGAACTGAATGAACAGGCCAA	0.353																																						uc003ieh.2		NaN																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(10642-10644)GAA>AAA		fragile site-associated protein							104.0	104.0	104.0					4																	123237989		1846	4091	5937	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123237989G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.10642G>A	4.37:g.123237989G>A	ENSP00000264501:p.Glu3548Lys					KIAA1109_uc003iel.1_Missense_Mutation_p.E1483K	p.E3548K	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			60	10687	+			3548					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.10642G>A	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	35	5.504269	0.96371	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637;ENST00000438707	T;T;T;T	0.65732	0.45;0.45;-0.1;-0.17	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.78817	0.4343	M	0.68593	2.085	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.76071	0.987;0.98	T	0.78277	-0.2266	10	0.51188	T	0.08	.	19.6394	0.95751	0.0:0.0:1.0:0.0	.	3548;3548	Q2LD37-6;Q2LD37	.;K1109_HUMAN	K	3548;3548;3548;231	ENSP00000264501:E3548K;ENSP00000373390:E3548K;ENSP00000389925:E3548K;ENSP00000410874:E231K	ENSP00000264501:E3548K	E	+	1	0	KIAA1109	123457439	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.787000	0.99055	2.637000	0.89404	0.655000	0.94253	GAA		0.353	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1		NM_020797		13	52	0	0	0	1	0	13	52		
FAT4	79633	broad.mit.edu	37	4	126238455	126238455	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:126238455C>G	ENST00000394329.3	+	1	902	c.889C>G	c.(889-891)Caa>Gaa	p.Q297E		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	297	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GACCCCCTTCCAAATGGACCC	0.662											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(889-891)CAA>GAA		FAT tumor suppressor homolog 4 precursor							21.0	26.0	25.0					4																	126238455		1992	4141	6133	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126238455C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.889C>G	4.37:g.126238455C>G	ENSP00000377862:p.Gln297Glu		OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.Q297E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	889	+			297			Cadherin 3.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.889C>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	0.248	-1.008646	0.02112	.	.	ENSG00000196159	ENST00000394329	T	0.48836	0.8	5.02	5.02	0.67125	Cadherin (4);Cadherin-like (1);	0.254221	0.19869	U	0.104222	T	0.23688	0.0573	N	0.04746	-0.17	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.12656	-1.0539	10	0.15499	T	0.54	.	9.1383	0.36888	0.1379:0.6587:0.2034:0.0	.	297	Q6V0I7	FAT4_HUMAN	E	297	ENSP00000377862:Q297E	ENSP00000377862:Q297E	Q	+	1	0	FAT4	126457905	1.000000	0.71417	0.997000	0.53966	0.790000	0.44656	4.724000	0.61972	2.303000	0.77524	0.655000	0.94253	CAA		0.662	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		17	63	0	0	0	1	0	17	63		
FAT4	79633	broad.mit.edu	37	4	126370600	126370600	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:126370600C>G	ENST00000394329.3	+	9	8442	c.8429C>G	c.(8428-8430)tCt>tGt	p.S2810C	FAT4_ENST00000335110.5_Missense_Mutation_p.S1108C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2810	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGTAGATATTCTATAATGGAT	0.388																																						uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(8428-8430)TCT>TGT		FAT tumor suppressor homolog 4 precursor							77.0	82.0	81.0					4																	126370600		2134	4277	6411	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126370600C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.8429C>G	4.37:g.126370600C>G	ENSP00000377862:p.Ser2810Cys					FAT4_uc011cgp.1_Missense_Mutation_p.S1108C|FAT4_uc003ifi.1_Missense_Mutation_p.S288C	p.S2810C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	8429	+			2810			Cadherin 27.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.8429C>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745175	0.69418	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.03181	4.02;4.02	5.61	5.61	0.85477	Cadherin (4);Cadherin-like (1);	0.000000	0.34362	U	0.004035	T	0.29256	0.0728	M	0.93375	3.41	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.939;0.992;0.999	T	0.23976	-1.0173	10	0.72032	D	0.01	.	20.0018	0.97417	0.0:1.0:0.0:0.0	.	1108;2810;2810	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	C	2810;1108	ENSP00000377862:S2810C;ENSP00000335169:S1108C	ENSP00000335169:S1108C	S	+	2	0	FAT4	126590050	1.000000	0.71417	0.764000	0.31436	0.482000	0.33219	5.896000	0.69822	2.793000	0.96121	0.655000	0.94253	TCT		0.388	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		18	63	0	0	0	1	0	18	63		
NAA15	80155	broad.mit.edu	37	4	140297588	140297588	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:140297588G>A	ENST00000296543.5	+	16	2340	c.2017G>A	c.(2017-2019)Gag>Aag	p.E673K	NAA15_ENST00000398947.1_Missense_Mutation_p.E673K	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	673	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAACAAGATAGAGACTCATCT	0.338																																						uc003ihu.1		NaN																	0				ovary(1)|skin(1)	2						c.(2017-2019)GAG>AAG		NMDA receptor regulated 1							113.0	106.0	108.0					4																	140297588		1832	4085	5917	SO:0001583	missense	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140297588G>A	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.2017G>A	4.37:g.140297588G>A	ENSP00000296543:p.Glu673Lys						p.E673K	NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN			16	2273	+			673			TPR 8.		D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	c.2017G>A	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	G	34	5.336313	0.95758	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.50277	0.75;0.75	5.62	5.62	0.85841	.	0.052668	0.64402	D	0.000001	T	0.61426	0.2346	M	0.76433	2.335	0.80722	D	1	B	0.31859	0.343	B	0.43155	0.41	T	0.59490	-0.7445	10	0.41790	T	0.15	-17.6725	19.6622	0.95877	0.0:0.0:1.0:0.0	.	673	Q9BXJ9	NAA15_HUMAN	K	673;547;673	ENSP00000296543:E673K;ENSP00000381920:E673K	ENSP00000296543:E673K	E	+	1	0	NAA15	140517038	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.637000	0.89404	0.585000	0.79938	GAG		0.338	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2		NM_057175		18	44	0	0	0	1	0	18	44		
MAML3	55534	broad.mit.edu	37	4	140811578	140811578	+	Missense_Mutation	SNP	C	C	G	rs200257540		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:140811578C>G	ENST00000509479.2	-	2	1868	c.1012G>C	c.(1012-1014)Gag>Cag	p.E338Q	MAML3_ENST00000327122.5_Missense_Mutation_p.E182Q|MAML3_ENST00000398940.1_5'Flank	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					AATTCTGGCTCCTTCTTCTCT	0.512																																						uc003ihz.1		NaN																	0				ovary(1)	1						c.(1012-1014)GAG>CAG		mastermind-like 3							68.0	69.0	69.0					4																	140811578		1961	4155	6116	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.chr4:140811578C>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.1012G>C	4.37:g.140811578C>G	ENSP00000421180:p.Glu338Gln					MAML3_uc011chd.1_Intron	p.E338Q	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN			2	1764	-	all_hematologic(180;0.162)		338						Missense_Mutation	SNP	ENST00000509479.2	37	c.1012G>C	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165039	0.78339	.	.	ENSG00000196782	ENST00000509479;ENST00000327122	T	0.24908	1.83	5.33	5.33	0.75918	.	0.112966	0.64402	D	0.000019	T	0.35422	0.0931	L	0.43152	1.355	0.80722	D	1	D	0.56746	0.977	P	0.50352	0.638	T	0.10520	-1.0626	10	0.72032	D	0.01	.	19.058	0.93074	0.0:1.0:0.0:0.0	.	338	Q96JK9	MAML3_HUMAN	Q	338;182	ENSP00000421180:E338Q	ENSP00000313316:E182Q	E	-	1	0	MAML3	141031028	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.291000	0.78721	2.469000	0.83416	0.650000	0.86243	GAG		0.512	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2				18	56	0	0	0	1	0	18	56		
TBC1D9	23158	broad.mit.edu	37	4	141545369	141545369	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:141545369C>G	ENST00000442267.2	-	20	3053	c.2979G>C	c.(2977-2979)aaG>aaC	p.K993N		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	993							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AATTTGCTCTCTTCCCTACAA	0.353																																						uc010ioj.2		NaN																	0				ovary(1)	1						c.(2977-2979)AAG>AAC		TBC1 domain family, member 9 (with GRAM domain)							130.0	112.0	118.0					4																	141545369		1827	4086	5913	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141545369C>G	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.2979G>C	4.37:g.141545369C>G	ENSP00000411197:p.Lys993Asn						p.K993N	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			20	3251	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	993					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.2979G>C	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901690	0.52227	.	.	ENSG00000109436	ENST00000442267	T	0.09350	2.99	5.84	0.695	0.18070	.	0.000000	0.85682	D	0.000000	T	0.10208	0.0250	L	0.51422	1.61	0.80722	D	1	P	0.36465	0.554	B	0.36418	0.224	T	0.13282	-1.0515	10	0.36615	T	0.2	-8.903	10.2023	0.43092	0.0:0.4536:0.0:0.5464	.	993	Q6ZT07	TBCD9_HUMAN	N	993	ENSP00000411197:K993N	ENSP00000411197:K993N	K	-	3	2	TBC1D9	141764819	1.000000	0.71417	0.782000	0.31804	0.712000	0.41017	0.776000	0.26704	-0.204000	0.10235	-0.808000	0.03180	AAG		0.353	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1		NM_015130		5	10	0	0	0	1	0	5	10		
OTUD4	54726	broad.mit.edu	37	4	146077090	146077090	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:146077090C>T	ENST00000447906.2	-	8	875	c.688G>A	c.(688-690)Gag>Aag	p.E230K	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_Missense_Mutation_p.E165K			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	230					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AAAAATACCTCATTGCCTGAC	0.308																																						uc003ika.3		NaN																	0				ovary(2)|breast(1)	3						c.(493-495)GAG>AAG		OTU domain containing 4 protein isoform 3							53.0	57.0	55.0					4																	146077090		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146077090C>T		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.688G>A	4.37:g.146077090C>T	ENSP00000395487:p.Glu230Lys					OTUD4_uc003ijz.3_Missense_Mutation_p.E165K	p.E165K	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN			8	631	-	all_hematologic(180;0.151)		230	E -> EQ (in Ref. 1; BAG63836, 3; EAX05045/EAX05046 and 7; AAI18573/ AAI18654).				B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.493G>A		.	.	.	.	.	.	.	.	.	.	C	10.50	1.366561	0.24771	.	.	ENSG00000164164	ENST00000454497;ENST00000447906;ENST00000514973	T;T;T	0.32988	1.46;1.51;1.43	5.37	4.53	0.55603	.	0.155920	0.44688	D	0.000433	T	0.12050	0.0293	N	0.04508	-0.205	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.12041	-1.0563	10	0.15952	T	0.53	-7.7778	6.101	0.20047	0.0:0.2724:0.507:0.2206	.	230;230	G3V0I6;Q01804	.;OTUD4_HUMAN	K	165;230;165	ENSP00000409279:E165K;ENSP00000395487:E230K;ENSP00000425972:E165K	ENSP00000395487:E230K	E	-	1	0	OTUD4	146296540	1.000000	0.71417	0.943000	0.38184	0.456000	0.32438	2.007000	0.40883	1.401000	0.46761	0.655000	0.94253	GAG		0.308	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2		NM_017493		7	33	0	0	0	1	0	7	33		
SH3D19	152503	broad.mit.edu	37	4	152096430	152096430	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:152096430G>C	ENST00000409252.2	-	6	793	c.86C>G	c.(85-87)tCa>tGa	p.S29*	SH3D19_ENST00000424281.1_Nonsense_Mutation_p.S29*|SH3D19_ENST00000455740.1_Nonsense_Mutation_p.S29*|SH3D19_ENST00000304527.4_Nonsense_Mutation_p.S29*|SH3D19_ENST00000514152.1_Nonsense_Mutation_p.S29*|SH3D19_ENST00000604030.1_5'Flank|SH3D19_ENST00000427414.2_Nonsense_Mutation_p.S29*|SH3D19_ENST00000409598.4_Nonsense_Mutation_p.S29*			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	29					cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GGGCAGTCCTGAGGTTTCTAT	0.433																																						uc010ipl.1		NaN																	0				ovary(1)|skin(1)	2						c.(85-87)TCA>TGA		SH3 domain containing 19 isoform a							126.0	134.0	132.0					4																	152096430		2203	4300	6503	SO:0001587	stop_gained	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152096430G>C	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.86C>G	4.37:g.152096430G>C	ENSP00000386848:p.Ser29*					SH3D19_uc003imc.2_Nonsense_Mutation_p.S29*|SH3D19_uc003ime.2_Nonsense_Mutation_p.S29*|SH3D19_uc010ipm.2_Nonsense_Mutation_p.S29*	p.S29*	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN			7	1176	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	29					B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Nonsense_Mutation	SNP	ENST00000409252.2	37	c.86C>G	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	G	42	9.744598	0.99253	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	.	.	.	6.17	-1.04	0.10068	.	2.220440	0.01548	N	0.019578	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	3.4033	3.2897	0.06944	0.2802:0.1023:0.5122:0.1053	.	.	.	.	X	29	.	ENSP00000302913:S29X	S	-	2	0	SH3D19	152315880	0.998000	0.40836	0.002000	0.10522	0.894000	0.52154	1.457000	0.35212	-0.589000	0.05874	0.655000	0.94253	TCA		0.433	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3		NM_001009555		38	122	0	0	0	1	0	38	122		
FHDC1	85462	broad.mit.edu	37	4	153897464	153897464	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:153897464C>T	ENST00000511601.1	+	12	3209	c.3021C>T	c.(3019-3021)tcC>tcT	p.S1007S	FHDC1_ENST00000260008.3_Silent_p.S1007S			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1007									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCGCCCACTCCGAGGGCCCTG	0.622																																						uc003inf.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(3019-3021)TCC>TCT		FH2 domain containing 1							43.0	53.0	50.0					4																	153897464		2203	4300	6503	SO:0001819	synonymous_variant	85462				actin cytoskeleton organization		actin binding	g.chr4:153897464C>T	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.3021C>T	4.37:g.153897464C>T							p.S1007S	NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN			11	3096	+	all_hematologic(180;0.093)		1007						Silent	SNP	ENST00000511601.1	37	c.3021C>T	CCDS34081.1																																																																																				0.622	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2		NM_033393		23	83	0	0	0	1	0	23	83		
KIAA0922	23240	broad.mit.edu	37	4	154514972	154514972	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:154514972G>C	ENST00000409663.3	+	19	1993	c.1941G>C	c.(1939-1941)atG>atC	p.M647I	KIAA0922_ENST00000409959.3_Missense_Mutation_p.M648I|KIAA0922_ENST00000440693.1_Missense_Mutation_p.M564I	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	647						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				ATATGCAGATGATTAATTTCA	0.378																																						uc003inm.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1939-1941)ATG>ATC		hypothetical protein LOC23240 isoform 2							115.0	105.0	108.0					4																	154514972		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154514972G>C	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.1941G>C	4.37:g.154514972G>C	ENSP00000386574:p.Met647Ile					KIAA0922_uc010ipp.2_Missense_Mutation_p.M648I|KIAA0922_uc010ipq.2_Missense_Mutation_p.M416I	p.M647I	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN			19	1993	+	all_hematologic(180;0.093)	Renal(120;0.118)	647			Extracellular (Potential).		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.1941G>C	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068317	0.36470	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.17054	2.52;2.3;2.52;2.3	5.36	4.46	0.54185	.	0.677994	0.15965	N	0.236066	T	0.18215	0.0437	L	0.55481	1.735	0.26426	N	0.976017	B;B;B	0.32160	0.358;0.06;0.017	B;B;B	0.32465	0.146;0.048;0.021	T	0.06844	-1.0804	10	0.36615	T	0.2	-7.338	11.7997	0.52120	0.0:0.0:0.662:0.338	.	564;648;647	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	I	647;564;648;425	ENSP00000386574:M647I;ENSP00000409663:M564I;ENSP00000386787:M648I;ENSP00000240487:M425I	ENSP00000240487:M425I	M	+	3	0	KIAA0922	154734422	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	1.670000	0.37502	2.671000	0.90904	0.650000	0.86243	ATG		0.378	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1		NM_015196		8	36	0	0	0	1	0	8	36		
TLR2	7097	broad.mit.edu	37	4	154625437	154625437	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:154625437G>C	ENST00000260010.6	+	1	2786	c.1378G>C	c.(1378-1380)Gaa>Caa	p.E460Q		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	460					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	CAAGACACTGGAAATTTTAGA	0.358																																						uc003inq.2		NaN																	0				ovary(1)|lung(1)|breast(1)	3						c.(1378-1380)GAA>CAA		toll-like receptor 2 precursor							95.0	98.0	97.0					4																	154625437		2203	4300	6503	SO:0001583	missense	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154625437G>C	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1378G>C	4.37:g.154625437G>C	ENSP00000260010:p.Glu460Gln					TLR2_uc003inr.2_Missense_Mutation_p.E460Q|TLR2_uc003ins.2_Missense_Mutation_p.E460Q	p.E460Q	NM_003264	NP_003255	O60603	TLR2_HUMAN			3	1597	+	all_hematologic(180;0.093)	Renal(120;0.117)	460			LRR 12.|Extracellular (Potential).		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	c.1378G>C	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	G	9.604	1.129558	0.21041	.	.	ENSG00000137462	ENST00000260010	T	0.00995	5.46	5.42	4.56	0.56223	.	0.196344	0.43919	N	0.000518	T	0.00967	0.0032	L	0.28115	0.83	0.34354	D	0.690212	B	0.31413	0.322	B	0.20577	0.03	T	0.58059	-0.7703	10	0.49607	T	0.09	.	14.5201	0.67844	0.0:0.2786:0.7214:0.0	.	460	O60603	TLR2_HUMAN	Q	460	ENSP00000260010:E460Q	ENSP00000260010:E460Q	E	+	1	0	TLR2	154844887	0.999000	0.42202	0.871000	0.34182	0.414000	0.31173	1.390000	0.34464	1.253000	0.44018	0.563000	0.77884	GAA		0.358	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1				26	56	0	0	0	1	0	26	56		
SFRP2	6423	broad.mit.edu	37	4	154702903	154702903	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:154702903C>T	ENST00000274063.4	-	3	872	c.588G>A	c.(586-588)ctG>ctA	p.L196L		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	196	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CTTTTATTTTCAGTGCTATGA	0.458																																						uc003inv.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(586-588)CTG>CTA		secreted frizzled-related protein 2 precursor							205.0	188.0	194.0					4																	154702903		2203	4300	6503	SO:0001819	synonymous_variant	6423				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	g.chr4:154702903C>T	AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"""Secreted frizzled-related proteins"""	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.588G>A	4.37:g.154702903C>T							p.L196L	NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN			3	829	-	all_hematologic(180;0.093)	Renal(120;0.117)	196			NTR.		B3KQR2|O14778|Q9HAP5	Silent	SNP	ENST00000274063.4	37	c.588G>A	CCDS34082.1																																																																																				0.458	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1				30	98	0	0	0	1	0	30	98		
DCHS2	54798	broad.mit.edu	37	4	155180751	155180751	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:155180751G>A	ENST00000357232.4	-	20	5369	c.5370C>T	c.(5368-5370)agC>agT	p.S1790S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1790	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCTGGTAAATGCTTTGTTCAA	0.408																																						uc003inw.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(5368-5370)AGC>AGT		dachsous 2 isoform 1							211.0	190.0	197.0					4																	155180751		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155180751G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5370C>T	4.37:g.155180751G>A							p.S1790S	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	20	5370	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1790			Cadherin 16.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.5370C>T	CCDS3785.1																																																																																				0.408	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2		NM_001142552		11	146	0	0	0	1	0	11	146		
ADAM29	11086	broad.mit.edu	37	4	175898316	175898316	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:175898316C>T	ENST00000359240.3	+	5	2310	c.1640C>T	c.(1639-1641)tCa>tTa	p.S547L	ADAM29_ENST00000445694.1_Missense_Mutation_p.S547L|ADAM29_ENST00000404450.4_Missense_Mutation_p.S547L|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.S547L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	547	Cys-rich.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			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)		TGTAATATCTCAGATGTCCAG	0.388																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2		NaN																	0				skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(1639-1641)TCA>TTA		ADAM metallopeptidase domain 29 preproprotein							109.0	111.0	110.0					4																	175898316		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898316C>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.1640C>T	4.37:g.175898316C>T	ENSP00000352177:p.Ser547Leu					ADAM29_uc003iud.2_Missense_Mutation_p.S547L|ADAM29_uc010irr.2_Missense_Mutation_p.S547L|ADAM29_uc011cki.1_Missense_Mutation_p.S547L	p.S547L	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	2310	+		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)	547			Cys-rich.|Extracellular (Potential).		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.1640C>T	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954718	0.34471	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	3.48	0.604	0.17547	ADAM, cysteine-rich (2);	2.505830	0.02438	U	0.084265	T	0.42268	0.1195	M	0.91140	3.18	0.09310	N	1	P	0.40553	0.721	P	0.44422	0.449	T	0.29640	-1.0005	9	.	.	.	.	0.972	0.01418	0.183:0.4205:0.179:0.2175	.	547	Q9UKF5	ADA29_HUMAN	L	547	ENSP00000352177:S547L;ENSP00000414544:S547L;ENSP00000384229:S547L;ENSP00000423517:S547L	.	S	+	2	0	ADAM29	176134891	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.533000	0.23082	0.082000	0.17018	-0.152000	0.13540	TCA		0.388	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding					32	109	0	0	0	1	0	32	109		
SLC6A19	340024	broad.mit.edu	37	5	1208934	1208934	+	Silent	SNP	C	C	T	rs146678323		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:1208934C>T	ENST00000304460.10	+	2	332	c.276C>T	c.(274-276)atC>atT	p.I92I		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	92					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AGTTCGCCATCGGGCAGCGGC	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		16110	0.0		0.0	False		,,,				2504	0.001					uc003jbw.3		NaN																	0					0						c.(274-276)ATC>ATT		solute carrier family 6, member 19		C		3,4403	6.2+/-15.9	0,3,2200	58.0	57.0	57.0		276	-5.6	0.9	5	dbSNP_134	57	12,8588	8.4+/-32.0	0,12,4288	no	coding-synonymous	SLC6A19	NM_001003841.2		0,15,6488	TT,TC,CC		0.1395,0.0681,0.1153		92/635	1208934	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1208934C>T	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.276C>T	5.37:g.1208934C>T							p.I92I	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		2	332	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		92			Cytoplasmic (Potential).		A8K446	Silent	SNP	ENST00000304460.10	37	c.276C>T	CCDS34130.1																																																																																				0.667	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1		XM_291120		36	82	0	0	0	1	0	36	82		
IRX4	50805	broad.mit.edu	37	5	1879900	1879900	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:1879900C>T	ENST00000505790.1	-	5	910	c.454G>A	c.(454-456)Gag>Aag	p.E152K	IRX4_ENST00000231357.2_Missense_Mutation_p.E152K|IRX4_ENST00000513692.1_Missense_Mutation_p.E152K|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	152					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		CTGGTGGTCTCGCGCGTGGCG	0.642																																						uc003jcz.2		NaN																	0					0						c.(454-456)GAG>AAG		iroquois homeobox 4							136.0	101.0	113.0					5																	1879900		2203	4300	6503	SO:0001583	missense	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1879900C>T	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.454G>A	5.37:g.1879900C>T	ENSP00000423161:p.Glu152Lys					IRX4_uc011cmf.1_Missense_Mutation_p.E13K	p.E152K	NM_016358	NP_057442	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	4	573	-			152			Homeobox; TALE-type.		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	ENST00000505790.1	37	c.454G>A	CCDS3867.1	.	.	.	.	.	.	.	.	.	.	C	35	5.440339	0.96168	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692;ENST00000511126	D;D;D;T	0.84944	-1.92;-1.92;-1.92;-0.24	4.55	4.55	0.56014	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.92512	0.7622	M	0.88570	2.965	0.80722	D	1	D	0.76494	0.999	P	0.61533	0.89	D	0.94215	0.7462	10	0.87932	D	0	-19.5272	16.0968	0.81132	0.0:1.0:0.0:0.0	.	152	P78413	IRX4_HUMAN	K	152;152;152;178	ENSP00000231357:E152K;ENSP00000423161:E152K;ENSP00000424235:E152K;ENSP00000421772:E178K	ENSP00000231357:E152K	E	-	1	0	IRX4	1932900	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.376000	0.79658	2.067000	0.61834	0.462000	0.41574	GAG		0.642	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1		NM_016358		40	93	0	0	0	1	0	40	93		
ADCY2	108	broad.mit.edu	37	5	7773074	7773074	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:7773074G>A	ENST00000338316.4	+	18	2333	c.2244G>A	c.(2242-2244)ctG>ctA	p.L748L	ADCY2_ENST00000537121.1_Silent_p.L568L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	748					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTCTGGGACTGATATCCTGTT	0.463																																						uc003jdz.1		NaN																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(2242-2244)CTG>CTA		adenylate cyclase 2							313.0	264.0	281.0					5																	7773074		2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7773074G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2244G>A	5.37:g.7773074G>A						ADCY2_uc011cmo.1_Silent_p.L568L	p.L748L	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			18	2311	+			748			Helical; (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.2244G>A	CCDS3872.2																																																																																				0.463	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2		NM_020546		41	116	0	0	0	1	0	41	116		
SEMA5A	9037	broad.mit.edu	37	5	9136626	9136626	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:9136626G>C	ENST00000382496.5	-	13	2254	c.1589C>G	c.(1588-1590)tCt>tGt	p.S530C		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	530					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CGGACACGCAGAGATGCTCTG	0.577																																						uc003jek.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1588-1590)TCT>TGT		semaphorin 5A precursor							105.0	82.0	89.0					5																	9136626		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9136626G>C	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1589C>G	5.37:g.9136626G>C	ENSP00000371936:p.Ser530Cys						p.S530C	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			13	2301	-			530			Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.1589C>G	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011639	0.75046	.	.	ENSG00000112902	ENST00000382496	T	0.24908	1.83	5.1	5.1	0.69264	.	0.250059	0.39341	N	0.001384	T	0.38161	0.1030	M	0.64404	1.975	0.33195	D	0.551332	P	0.45078	0.85	P	0.49683	0.619	T	0.54689	-0.8256	10	0.66056	D	0.02	.	14.3839	0.66929	0.0:0.0:1.0:0.0	.	530	Q13591	SEM5A_HUMAN	C	530	ENSP00000371936:S530C	ENSP00000371936:S530C	S	-	2	0	SEMA5A	9189626	1.000000	0.71417	0.569000	0.28460	0.771000	0.43674	8.153000	0.89640	2.543000	0.85770	0.655000	0.94253	TCT		0.577	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2				11	46	0	0	0	1	0	11	46		
CDH6	1004	broad.mit.edu	37	5	31316392	31316392	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:31316392G>A	ENST00000265071.2	+	9	1733	c.1468G>A	c.(1468-1470)Gag>Aag	p.E490K	CDH6_ENST00000514738.1_Missense_Mutation_p.E435K	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	490	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGAATTTGCTGAGTTCTATGA	0.333																																						uc003jhe.1		NaN																	0				ovary(4)|skin(2)|large_intestine(1)	7						c.(1468-1470)GAG>AAG		cadherin 6, type 2 preproprotein							67.0	68.0	68.0					5																	31316392		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31316392G>A	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1468G>A	5.37:g.31316392G>A	ENSP00000265071:p.Glu490Lys					CDH6_uc003jhd.1_Missense_Mutation_p.E490K	p.E490K	NM_004932	NP_004923	P55285	CADH6_HUMAN			9	1794	+			490			Extracellular (Potential).|Cadherin 5.		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.1468G>A	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	G	9.255	1.041646	0.19748	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.58797	0.31;0.31	5.25	5.25	0.73442	Cadherin (1);Cadherin-like (1);	0.186950	0.51477	D	0.000095	T	0.27559	0.0677	N	0.04090	-0.28	0.38588	D	0.95035	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.32348	-0.9910	10	0.07482	T	0.82	.	6.5778	0.22577	0.2048:0.0:0.7952:0.0	.	490;490	P55285;P55285-2	CADH6_HUMAN;.	K	435;490	ENSP00000424843:E435K;ENSP00000265071:E490K	ENSP00000265071:E490K	E	+	1	0	CDH6	31352149	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.751000	0.62169	2.894000	0.99253	0.655000	0.94253	GAG		0.333	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2		NM_004932		6	27	0	0	0	1	0	6	27		
PDZD2	23037	broad.mit.edu	37	5	32093126	32093126	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:32093126C>G	ENST00000438447.1	+	21	8229	c.7841C>G	c.(7840-7842)tCa>tGa	p.S2614*	PDZD2_ENST00000282493.3_Nonsense_Mutation_p.S2614*			O15018	PDZD2_HUMAN	PDZ domain containing 2	2614					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAAGCACAATCAGAGGTGAGT	0.537											OREG0016544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jhl.2		NaN																	0				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(7840-7842)TCA>TGA		PDZ domain containing 2							78.0	78.0	78.0					5																	32093126		2203	4300	6503	SO:0001587	stop_gained	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32093126C>G	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.7841C>G	5.37:g.32093126C>G	ENSP00000402033:p.Ser2614*		OREG0016544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	829	PDZD2_uc003jhm.2_Nonsense_Mutation_p.S2614*	p.S2614*	NM_178140	NP_835260	O15018	PDZD2_HUMAN			21	8229	+			2614					Q9BXD4	Nonsense_Mutation	SNP	ENST00000438447.1	37	c.7841C>G	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	51	18.129471	0.99899	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	.	.	.	5.93	5.93	0.95920	.	0.177891	0.27586	N	0.018703	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	13.4336	0.61071	0.0:0.843:0.157:0.0	.	.	.	.	X	2614;2415;2614	.	ENSP00000282493:S2614X	S	+	2	0	PDZD2	32128883	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.542000	0.53625	2.826000	0.97356	0.655000	0.94253	TCA		0.537	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1				19	80	0	0	0	1	0	19	80		
RXFP3	51289	broad.mit.edu	37	5	33937997	33937997	+	Silent	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:33937997C>A	ENST00000330120.3	+	1	1507	c.1152C>A	c.(1150-1152)ctC>ctA	p.L384L		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	384					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						ACAGCTGCCTCAACCCCGTCC	0.617																																						uc003jic.1		NaN																	0				upper_aerodigestive_tract(1)	1						c.(1150-1152)CTC>CTA		relaxin/insulin-like family peptide receptor 3							94.0	94.0	94.0					5																	33937997		2203	4300	6503	SO:0001819	synonymous_variant	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937997C>A	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.1152C>A	5.37:g.33937997C>A							p.L384L	NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN			1	1509	+			384			Cytoplasmic (Potential).		Q14DA5	Silent	SNP	ENST00000330120.3	37	c.1152C>A	CCDS3900.1																																																																																				0.617	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1		NM_016568		51	147	1	0	3.50607e-19	1	3.71915e-19	51	147		
NIPBL	25836	broad.mit.edu	37	5	36953855	36953855	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:36953855C>T	ENST00000282516.8	+	2	556	c.57C>T	c.(55-57)ctC>ctT	p.L19L	NIPBL_ENST00000448238.2_Silent_p.L19L	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	19					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTGCTAGTCTCACAGACCGTA	0.348																																						uc003jkl.3		NaN																	0				ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(55-57)CTC>CTT		delangin isoform A							120.0	111.0	114.0					5																	36953855		2203	4300	6503	SO:0001819	synonymous_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36953855C>T	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.57C>T	5.37:g.36953855C>T						NIPBL_uc003jkk.3_Silent_p.L19L	p.L19L	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)		2	556	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		19					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	c.57C>T	CCDS3920.1																																																																																				0.348	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1		NM_015384		19	52	0	0	0	1	0	19	52		
RICTOR	253260	broad.mit.edu	37	5	38966820	38966820	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:38966820G>C	ENST00000357387.3	-	15	1252	c.1222C>G	c.(1222-1224)Cta>Gta	p.L408V	RICTOR_ENST00000296782.5_Missense_Mutation_p.L408V	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					ACTTCAACTAGACCCTTTGAA	0.274																																						uc003jlp.2		NaN																	0				ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10						c.(1222-1224)CTA>GTA		rapamycin-insensitive companion of mTOR							69.0	66.0	67.0					5																	38966820		2203	4297	6500	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38966820G>C		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.1222C>G	5.37:g.38966820G>C	ENSP00000349959:p.Leu408Val					RICTOR_uc003jlo.2_Missense_Mutation_p.L408V|RICTOR_uc010ivf.2_Missense_Mutation_p.L123V	p.L408V	NM_152756	NP_689969	Q6R327	RICTR_HUMAN			15	1246	-	all_lung(31;0.000396)		408						Missense_Mutation	SNP	ENST00000357387.3	37	c.1222C>G	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.504725	0.44558	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.76839	-1.05;-1.05	5.52	4.25	0.50352	Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	D	0.86493	0.5946	M	0.84219	2.685	0.58432	D	0.99999	D;D	0.76494	0.999;0.996	D;D	0.75484	0.985;0.986	D	0.85795	0.1370	10	0.87932	D	0	-6.5377	7.355	0.26714	0.7446:0.0:0.2554:0.0	.	408;408	Q6R327;Q6R327-3	RICTR_HUMAN;.	V	408	ENSP00000349959:L408V;ENSP00000296782:L408V	ENSP00000296782:L408V	L	-	1	2	RICTOR	39002577	1.000000	0.71417	0.996000	0.52242	0.567000	0.35839	3.013000	0.49582	0.795000	0.33922	-0.225000	0.12378	CTA		0.274	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1		NM_152756		8	19	0	0	0	1	0	8	19		
FYB	2533	broad.mit.edu	37	5	39202544	39202544	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:39202544C>G	ENST00000351578.6	-	2	709	c.519G>C	c.(517-519)ttG>ttC	p.L173F	FYB_ENST00000505428.1_Missense_Mutation_p.L173F|FYB_ENST00000512982.1_Missense_Mutation_p.L173F|FYB_ENST00000540520.1_Missense_Mutation_p.L183F|FYB_ENST00000515010.1_Missense_Mutation_p.L173F	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	173					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TAACCCCAGTCAATTTGGGAA	0.498																																						uc003jls.2		NaN																	0				ovary(2)	2						c.(517-519)TTG>TTC		FYN binding protein (FYB-120/130) isoform 2							121.0	118.0	119.0					5																	39202544		1851	4104	5955	SO:0001583	missense	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39202544C>G	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.519G>C	5.37:g.39202544C>G	ENSP00000316460:p.Leu173Phe					FYB_uc003jlt.2_Missense_Mutation_p.L173F|FYB_uc003jlu.2_Missense_Mutation_p.L173F|FYB_uc011cpl.1_Missense_Mutation_p.L183F	p.L173F	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		1	586	-	all_lung(31;0.000343)		173					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.519G>C	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	C	5.225	0.227051	0.09916	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542;ENST00000510188	T;T;T;T;T;T	0.54479	1.76;1.76;1.76;1.76;1.75;0.57	6.07	1.19	0.21007	.	1.325760	0.04856	N	0.443291	T	0.53642	0.1809	M	0.62723	1.935	0.09310	N	1	P;P	0.46706	0.883;0.664	P;B	0.47402	0.546;0.235	T	0.33445	-0.9868	10	0.49607	T	0.09	2.8709	1.6959	0.02862	0.1308:0.3642:0.1274:0.3776	.	183;173	B4DLN2;O15117	.;FYB_HUMAN	F	173;173;173;173;183;173;173	ENSP00000316460:L173F;ENSP00000426346:L173F;ENSP00000425845:L173F;ENSP00000427114:L173F;ENSP00000442840:L183F;ENSP00000426597:L173F	ENSP00000316460:L173F	L	-	3	2	FYB	39238301	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.134000	0.10436	-0.066000	0.12998	-0.126000	0.14955	TTG		0.498	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1		NM_001465		28	101	0	0	0	1	0	28	101		
FGF10	2255	broad.mit.edu	37	5	44388630	44388630	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:44388630G>C	ENST00000264664.4	-	1	269	c.155C>G	c.(154-156)tCt>tGt	p.S52C	RP11-473L15.2_ENST00000502457.1_RNA	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	52	Poly-Ser.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					GGAGGAAGAAGAGTTGGTGGC	0.547																																						uc003jog.1		NaN																	0				lung(3)	3						c.(154-156)TCT>TGT		fibroblast growth factor 10 precursor							57.0	56.0	56.0					5																	44388630		2203	4300	6503	SO:0001583	missense	2255				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	g.chr5:44388630G>C		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.155C>G	5.37:g.44388630G>C	ENSP00000264664:p.Ser52Cys						p.S52C	NM_004465	NP_004456	O15520	FGF10_HUMAN			1	155	-	Lung NSC(6;1.12e-06)		52			Poly-Ser.		C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Missense_Mutation	SNP	ENST00000264664.4	37	c.155C>G	CCDS3950.1	.	.	.	.	.	.	.	.	.	.	G	9.490	1.100559	0.20552	.	.	ENSG00000070193	ENST00000264664;ENST00000513107	T	0.76709	-1.04	5.24	4.36	0.52297	.	3.908340	0.00639	N	0.000517	T	0.73560	0.3602	L	0.27053	0.805	0.38305	D	0.943082	B	0.02656	0.0	B	0.01281	0.0	T	0.31806	-0.9930	10	0.38643	T	0.18	.	15.7219	0.77718	0.0:0.1368:0.8632:0.0	.	52	O15520	FGF10_HUMAN	C	52	ENSP00000264664:S52C	ENSP00000264664:S52C	S	-	2	0	FGF10	44424387	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	2.795000	0.47861	1.176000	0.42840	0.561000	0.74099	TCT		0.547	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2		NM_004465		28	49	0	0	0	1	0	28	49		
MRPS30	10884	broad.mit.edu	37	5	44811174	44811174	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:44811174G>A	ENST00000507110.1	+	2	703	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	RP11-53O19.1_ENST00000514597.1_RNA|RP11-53O19.1_ENST00000508123.1_RNA|RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000508945.1_RNA|RP11-53O19.1_ENST00000505302.1_RNA|RP11-53O19.1_ENST00000503179.1_RNA|RP11-53O19.1_ENST00000505637.1_RNA|RP11-53O19.1_ENST00000503452.1_RNA	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	222					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					CGTGGTCATCGAAGAGGTCGA	0.373																																						uc003joh.2		NaN																	0					0						c.(664-666)CGA>CAA		mitochondrial ribosomal protein S30							126.0	122.0	123.0					5																	44811174		2203	4300	6503	SO:0001583	missense	10884				apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr5:44811174G>A	AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"""Mitochondrial ribosomal proteins / small subunits"""	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.665G>A	5.37:g.44811174G>A	ENSP00000424328:p.Arg222Gln					MRPS30_uc003joi.1_RNA	p.R222Q	NM_016640	NP_057724	Q9NP92	RT30_HUMAN			2	703	+	Lung NSC(6;8.08e-07)		222					Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Missense_Mutation	SNP	ENST00000507110.1	37	c.665G>A	CCDS3951.1	.	.	.	.	.	.	.	.	.	.	G	34	5.300999	0.95601	.	.	ENSG00000112996	ENST00000507110	T	0.20332	2.08	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.49762	0.1576	M	0.78049	2.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.41840	-0.9486	10	0.37606	T	0.19	-2.9465	19.3411	0.94342	0.0:0.0:1.0:0.0	.	222	Q9NP92	RT30_HUMAN	Q	222	ENSP00000424328:R222Q	ENSP00000424328:R222Q	R	+	2	0	MRPS30	44846931	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	6.707000	0.74654	2.631000	0.89168	0.655000	0.94253	CGA		0.373	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2		NM_016640		15	47	0	0	0	1	0	15	47		
IL31RA	133396	broad.mit.edu	37	5	55206499	55206499	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:55206499C>T	ENST00000447346.2	+	12	1706	c.1641C>T	c.(1639-1641)ttC>ttT	p.F547F	IL31RA_ENST00000396834.1_Splice_Site_p.F528F|IL31RA_ENST00000354961.4_Splice_Site_p.F528F|IL31RA_ENST00000359040.5_Splice_Site_p.F547F|IL31RA_ENST00000490985.1_Splice_Site_p.F405F	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	515					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CATTGTCATTCAGTGAGTATT	0.463																																						uc003jql.2		NaN																	0				ovary(1)	1						c.(1639-1641)TTC>TTT		gp130-like monocyte receptor							169.0	147.0	155.0					5																	55206499		2203	4300	6503	SO:0001630	splice_region_variant	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55206499C>T	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1642+1C>T	5.37:g.55206499C>T						IL31RA_uc003jqm.2_Silent_p.F515F|IL31RA_uc003jqn.2_Silent_p.F547F|IL31RA_uc010iwa.1_Silent_p.F510F|IL31RA_uc003jqo.2_Silent_p.F405F	p.F547F	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN			12	1706	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	515			Extracellular (Potential).		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Silent	SNP	ENST00000447346.2	37	c.1641C>T	CCDS3970.2																																																																																				0.463	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1		NM_139017	Silent	34	106	0	0	0	1	0	34	106		
IL6ST	3572	broad.mit.edu	37	5	55238517	55238517	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:55238517G>A	ENST00000381298.2	-	16	2312	c.2000C>T	c.(1999-2001)tCa>tTa	p.S667L	IL6ST_ENST00000381294.3_Missense_Mutation_p.S606L|IL6ST_ENST00000381286.3_Missense_Mutation_p.H43Y|IL6ST_ENST00000336909.5_Missense_Mutation_p.S667L|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381293.2_Missense_Mutation_p.H180Y|CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000502326.3_Missense_Mutation_p.S667L	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	667					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AGTGTGAGGTGACCACTGGGC	0.368			O		hepatocellular ca																																	uc003jqq.2		NaN		Dom	yes		5	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			E			hepatocellular ca		0				large_intestine(1)|ovary(1)	2						c.(1999-2001)TCA>TTA		interleukin 6 signal transducer isoform 1							98.0	95.0	96.0					5																	55238517		2203	4300	6503	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55238517G>A	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.2000C>T	5.37:g.55238517G>A	ENSP00000370698:p.Ser667Leu					IL6ST_uc010iwb.2_Missense_Mutation_p.S606L|IL6ST_uc010iwc.2_Missense_Mutation_p.H180Y|IL6ST_uc010iwd.2_5'UTR|IL6ST_uc011cqk.1_Missense_Mutation_p.S378L|IL6ST_uc003jqr.2_3'UTR	p.S667L	NM_002184	NP_002175	P40189	IL6RB_HUMAN			16	2255	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	667			Cytoplasmic (Potential).		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.2000C>T	CCDS3971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.78|15.78	2.934670|2.934670	0.52866|0.52866	.|.	.|.	ENSG00000134352|ENSG00000134352	ENST00000381293;ENST00000381286|ENST00000381298;ENST00000336909;ENST00000381294	T;T|T;T;T	0.55588|0.39406	1.98;0.51|1.41;1.41;1.08	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.059046	.|0.64402	.|D	.|0.000001	T|T	0.61160|0.61160	0.2325|0.2325	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	B|D;D;D	0.32693|0.89917	0.38|1.0;1.0;1.0	B|D;D;D	0.34991|0.81914	0.193|0.993;0.995;0.993	T|T	0.57516|0.57516	-0.7798|-0.7798	9|10	0.87932|0.46703	D|T	0|0.11	.|.	19.7971|19.7971	0.96490|0.96490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	180|667;606;667	Q5FC05|Q17RA0;Q5FC04;P40189	.|.;.;IL6RB_HUMAN	Y|L	180;43|667;667;606	ENSP00000370693:H180Y;ENSP00000370686:H43Y|ENSP00000370698:S667L;ENSP00000338799:S667L;ENSP00000370694:S606L	ENSP00000370686:H43Y|ENSP00000338799:S667L	H|S	-|-	1|2	0|0	IL6ST|IL6ST	55274274|55274274	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.173000|8.173000	0.89680|0.89680	2.757000|2.757000	0.94681|0.94681	0.585000|0.585000	0.79938|0.79938	CAC|TCA		0.368	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3		NM_002184		10	34	0	0	0	1	0	10	34		
ADAMTS6	11174	broad.mit.edu	37	5	64520832	64520832	+	IGR	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:64520832C>G								ADAMTS6 (26240 upstream) : ADAMTS6 (72202 downstream)																							CGACATCTATCTTCCCTAGCA	0.443																																						uc003jtp.2		NaN																	0					0						c.(2110-2112)GAT>CAT		ADAM metallopeptidase with thrombospondin type 1							125.0	104.0	111.0					5																	64520832		2203	4300	6503	SO:0001628	intergenic_variant	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64520832C>G																													5.37:g.64520832C>G						ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Missense_Mutation_p.D325H	p.D704H	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	17	2924	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	704						Missense_Mutation	SNP		37	c.2110G>C		.	.	.	.	.	.	.	.	.	.	C	26.3	4.719826	0.89205	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680	T;T	0.76839	-1.05;-1.05	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.98155	4.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95358	0.8453	10	0.87932	D	0	.	19.5212	0.95185	0.0:1.0:0.0:0.0	.	704;704	D6R9L6;Q9UKP5	.;ATS6_HUMAN	H	704;654;704	ENSP00000370443:D704H;ENSP00000423551:D704H	ENSP00000261306:D654H	D	-	1	0	ADAMTS6	64556588	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.417000	0.80156	2.609000	0.88269	0.557000	0.71058	GAT	0	0.443										7	39	0	0	0	1	0	7	39		
PPWD1	23398	broad.mit.edu	37	5	64863366	64863366	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:64863366G>C	ENST00000261308.5	+	2	295	c.223G>C	c.(223-225)Gat>Cat	p.D75H	PPWD1_ENST00000535264.1_Missense_Mutation_p.D45H|PPWD1_ENST00000538977.1_Intron	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	75					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		AGTCTATCTTGATAATCTCCC	0.313																																						uc003jtv.3		NaN																	0				ovary(1)	1						c.(223-225)GAT>CAT		peptidylprolyl isomerase domain and WD repeat							104.0	105.0	105.0					5																	64863366		2203	4300	6503	SO:0001583	missense	23398				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64863366G>C	AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"""WD repeat domain containing"""	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.223G>C	5.37:g.64863366G>C	ENSP00000261308:p.Asp75His					PPWD1_uc011cqv.1_Missense_Mutation_p.D45H|PPWD1_uc011cqw.1_Intron	p.D75H	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN		Lung(70;0.00451)	2	230	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	75					B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	ENST00000261308.5	37	c.223G>C	CCDS3985.1	.	.	.	.	.	.	.	.	.	.	G	32	5.159301	0.94686	.	.	ENSG00000113593	ENST00000261308;ENST00000535264	T;T	0.62364	0.03;0.22	5.62	5.62	0.85841	.	0.251410	0.46145	D	0.000307	T	0.74129	0.3676	M	0.66439	2.03	0.80722	D	1	P;B	0.43542	0.81;0.405	P;B	0.52424	0.698;0.303	T	0.73827	-0.3860	10	0.51188	T	0.08	.	19.6517	0.95819	0.0:0.0:1.0:0.0	.	45;75	F5H7P7;Q96BP3	.;PPWD1_HUMAN	H	75;45	ENSP00000261308:D75H;ENSP00000442371:D45H	ENSP00000261308:D75H	D	+	1	0	PPWD1	64899122	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.837000	0.99465	2.662000	0.90505	0.655000	0.94253	GAT		0.313	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2		NM_015342		11	36	0	0	0	1	0	11	36		
CDK7	1022	broad.mit.edu	37	5	68548244	68548244	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:68548244G>C	ENST00000256443.3	+	3	229		c.e3-1		CDK7_ENST00000513629.1_Splice_Site|CDK7_ENST00000502604.1_Splice_Site|CDK7_ENST00000514676.1_Splice_Site	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7						7-methylguanosine mRNA capping (GO:0006370)|androgen receptor signaling pathway (GO:0030521)|ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA-dependent ATPase activity (GO:0008094)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription coactivator activity (GO:0003713)			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		GTTTCTACCAGATCAAACTTG	0.259								Nucleotide excision repair (NER)																														uc003jvs.3		NaN																	0				lung(1)	1						c.e3-1	NER	cyclin-dependent kinase 7							60.0	66.0	64.0					5																	68548244		2197	4297	6494	SO:0001630	splice_region_variant	1022				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity	g.chr5:68548244G>C		CCDS3999.1	5q12.1	2012-11-05	2007-11-21		ENSG00000134058	ENSG00000134058		"""Cyclin-dependent kinases"", ""General transcription factor IIH complex subunits"""	1778	protein-coding gene	gene with protein product		601955	"""cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase)"", ""cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)"""			8069918	Standard	NM_001799		Approved	CAK1, CDKN7, MO15, STK1, CAK	uc003jvs.4	P50613	OTTHUMG00000099358	ENST00000256443.3:c.127-1G>C	5.37:g.68548244G>C						CDK7_uc010ixd.1_Splice_Site_p.I43_splice|CDK7_uc003jvt.3_Splice_Site_p.I2_splice|CDK7_uc003jvu.3_Splice_Site	p.I43_splice	NM_001799	NP_001790	P50613	CDK7_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)	3	308	+		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)						Q9BS60|Q9UE19	Splice_Site	SNP	ENST00000256443.3	37	c.127_splice	CCDS3999.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244111	0.59103	.	.	ENSG00000134058	ENST00000256443;ENST00000514676	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0487	0.86511	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK7	68584000	1.000000	0.71417	0.994000	0.49952	0.627000	0.37826	9.302000	0.96175	2.315000	0.78130	0.561000	0.74099	.		0.259	CDK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216802.3		NM_001799	Intron	32	116	0	0	0	1	0	32	116		
POLK	51426	broad.mit.edu	37	5	74892360	74892360	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:74892360G>A	ENST00000241436.4	+	13	2014	c.1842G>A	c.(1840-1842)gaG>gaA	p.E614E	POLK_ENST00000352007.5_Silent_p.E416E|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Silent_p.E524E|POLK_ENST00000504026.1_Intron|CTC-366B18.2_ENST00000511329.1_RNA|POLK_ENST00000508526.1_Silent_p.E416E	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	614					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AAATATCAGAGAATTCAGATG	0.368								DNA polymerases (catalytic subunits)																														uc003kdw.2		NaN																	0				ovary(2)|kidney(2)	4						c.(1840-1842)GAG>GAA	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase kappa							108.0	111.0	110.0					5																	74892360		2203	4300	6503	SO:0001819	synonymous_variant	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74892360G>A	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.1842G>A	5.37:g.74892360G>A						POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Silent_p.E416E|POLK_uc003kec.2_Silent_p.E524E|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Silent_p.E524E	p.E614E	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	13	1938	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	614					B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Silent	SNP	ENST00000241436.4	37	c.1842G>A	CCDS4030.1																																																																																				0.368	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3		NM_016218		18	103	0	0	0	1	0	18	103		
DMGDH	29958	broad.mit.edu	37	5	78322343	78322343	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:78322343G>A	ENST00000255189.3	-	13	2122	c.2094C>T	c.(2092-2094)atC>atT	p.I698I	DMGDH_ENST00000380311.4_Silent_p.I497I|DMGDH_ENST00000540686.1_Silent_p.I318I	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	698					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CTGCATTCATGATAGCGTCAT	0.512																																						uc003kfs.2		NaN																	0				ovary(2)|liver(1)|skin(1)	4						c.(2092-2094)ATC>ATT		dimethylglycine dehydrogenase precursor							105.0	95.0	99.0					5																	78322343		2203	4300	6503	SO:0001819	synonymous_variant	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78322343G>A	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.2094C>T	5.37:g.78322343G>A						DMGDH_uc011cte.1_Silent_p.I548I|DMGDH_uc011ctf.1_Silent_p.I497I|DMGDH_uc011ctg.1_Silent_p.I318I	p.I698I	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	13	2100	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	698					B2RBN0|B4E1J9	Silent	SNP	ENST00000255189.3	37	c.2094C>T	CCDS4044.1																																																																																				0.512	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3		NM_013391		22	74	0	0	0	1	0	22	74		
MSH3	4437	broad.mit.edu	37	5	79970869	79970869	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:79970869C>T	ENST00000265081.6	+	7	1175	c.1095C>T	c.(1093-1095)acC>acT	p.T365T		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	365					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATACTTCTACCAGCTATCTTC	0.328								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	uc003kgz.2		NaN																	0				lung(2)|ovary(1)|breast(1)	4						c.(1093-1095)ACC>ACT	MMR	mutS homolog 3							109.0	112.0	111.0					5																	79970869		2203	4300	6503	SO:0001819	synonymous_variant	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79970869C>T	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.1095C>T	5.37:g.79970869C>T							p.T365T	NM_002439	NP_002430	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	7	1348	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	365					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Silent	SNP	ENST00000265081.6	37	c.1095C>T	CCDS34195.1																																																																																				0.328	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1		NM_002439		22	65	0	0	0	1	0	22	65		
CKMT2	1160	broad.mit.edu	37	5	80553673	80553673	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:80553673G>C	ENST00000424301.2	+	8	1115	c.877G>C	c.(877-879)Gaa>Caa	p.E293Q	CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.E293Q|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.E293Q|CKMT2-AS1_ENST00000502041.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	293	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	TGGACTAAAAGAAGTAAGATG	0.358																																						uc003khc.3		NaN																	0					0						c.(877-879)GAA>CAA		sarcomeric mitochondrial creatine kinase	Creatine(DB00148)						83.0	81.0	81.0					5																	80553673		2203	4300	6503	SO:0001583	missense	1160				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr5:80553673G>C		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.877G>C	5.37:g.80553673G>C	ENSP00000404203:p.Glu293Gln					RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Missense_Mutation_p.E293Q|CKMT2_uc003khd.3_Missense_Mutation_p.E293Q|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron	p.E293Q	NM_001825	NP_001816	P17540	KCRS_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	8	1119	+		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)	293			Phosphagen kinase C-terminal.		Q6ICS8|Q8N1E1	Missense_Mutation	SNP	ENST00000424301.2	37	c.877G>C	CCDS4053.1	.	.	.	.	.	.	.	.	.	.	G	9.829	1.187950	0.21954	.	.	ENSG00000131730	ENST00000254035;ENST00000437669;ENST00000424301	T;T;T	0.11821	2.74;2.74;2.74	5.82	5.82	0.92795	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.048619	0.85682	D	0.000000	T	0.10508	0.0257	N	0.16066	0.365	0.58432	D	0.999998	B	0.09022	0.002	B	0.11329	0.006	T	0.28459	-1.0043	10	0.17832	T	0.49	-2.2633	20.0905	0.97816	0.0:0.0:1.0:0.0	.	293	P17540	KCRS_HUMAN	Q	293	ENSP00000254035:E293Q;ENSP00000410289:E293Q;ENSP00000404203:E293Q	ENSP00000254035:E293Q	E	+	1	0	CKMT2	80589429	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	4.712000	0.61888	2.762000	0.94881	0.650000	0.86243	GAA		0.358	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1		NM_001825		8	33	0	0	0	1	0	8	33		
SSBP2	23635	broad.mit.edu	37	5	80742738	80742738	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:80742738G>A	ENST00000320672.4	-	12	937	c.727C>T	c.(727-729)Cct>Tct	p.P243S	SSBP2_ENST00000510060.1_5'UTR|SSBP2_ENST00000505980.1_Missense_Mutation_p.P223S|SSBP2_ENST00000515395.1_Missense_Mutation_p.P221S|SSBP2_ENST00000514493.1_Missense_Mutation_p.P213S|SSBP2_ENST00000509053.1_Missense_Mutation_p.P213S	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	243	Gly-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		CCTCCTGGAGGACCCTAAATA	0.343																																						uc003kho.2		NaN																SSBP2/JAK2(4)	0				haematopoietic_and_lymphoid_tissue(4)|skin(1)	5						c.(727-729)CCT>TCT		single-stranded DNA binding protein 2							39.0	42.0	41.0					5																	80742738		2203	4300	6503	SO:0001583	missense	23635				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding	g.chr5:80742738G>A	AF077048	CCDS4056.1, CCDS58960.1, CCDS58961.1, CCDS58962.1, CCDS58963.1, CCDS75268.1	5q14.1	2012-05-25	2001-11-28		ENSG00000145687	ENSG00000145687			15831	protein-coding gene	gene with protein product		607389	"""single-stranded DNA-binding protein 2"""			11230166, 11042152	Standard	NM_001256732		Approved	HSPC116	uc003khp.4	P81877	OTTHUMG00000119039	ENST00000320672.4:c.727C>T	5.37:g.80742738G>A	ENSP00000322977:p.Pro243Ser					RNU5E_uc011cto.1_Intron|SSBP2_uc010jar.2_Missense_Mutation_p.P131S|SSBP2_uc003khn.2_Missense_Mutation_p.P117S|SSBP2_uc003khp.2_Missense_Mutation_p.P251S|SSBP2_uc011ctp.1_Missense_Mutation_p.P223S|SSBP2_uc011ctq.1_Missense_Mutation_p.P221S|SSBP2_uc011ctr.1_Missense_Mutation_p.P213S	p.P243S	NM_012446	NP_036578	P81877	SSBP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)	12	938	-		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)	243			Gly-rich.|Pro-rich.		B2R5W1|B7Z1J2|B7Z2L9|B7Z665|D6RH18|E9PB74|E9PDA8|Q8N2Q2|Q9BWW6|Q9Y4T7	Missense_Mutation	SNP	ENST00000320672.4	37	c.727C>T	CCDS4056.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796079	0.50208	.	.	ENSG00000145687	ENST00000320672;ENST00000509053;ENST00000514493;ENST00000380182;ENST00000504985;ENST00000512923;ENST00000505980;ENST00000515395	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.79215	0.4408	M	0.72894	2.215	0.80722	D	1	P;P;P;P;D;D	0.59357	0.873;0.923;0.553;0.945;0.985;0.985	P;P;B;P;D;D	0.74023	0.685;0.755;0.259;0.674;0.982;0.982	T	0.74124	-0.3766	9	0.33141	T	0.24	-2.0595	20.2672	0.98462	0.0:0.0:1.0:0.0	.	213;221;223;196;221;243	E9PDA8;E9PB74;B7Z1J2;A6ND70;B7Z665;P81877	.;.;.;.;.;SSBP2_HUMAN	S	243;213;213;196;157;149;223;221	.	ENSP00000322977:P243S	P	-	1	0	SSBP2	80778494	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.405000	0.90213	2.894000	0.99253	0.591000	0.81541	CCT		0.343	SSBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239249.1		NM_012446		14	32	0	0	0	1	0	14	32		
GPR98	84059	broad.mit.edu	37	5	89923556	89923556	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:89923556G>C	ENST00000405460.2	+	7	1297	c.1201G>C	c.(1201-1203)Gaa>Caa	p.E401Q		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	401	Calx-beta 4. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGTTTTGTTTGAAAGGACAGT	0.299																																						uc003kju.2		NaN																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(1201-1203)GAA>CAA		G protein-coupled receptor 98 precursor							44.0	42.0	43.0					5																	89923556		1821	4071	5892	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89923556G>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.1201G>C	5.37:g.89923556G>C	ENSP00000384582:p.Glu401Gln					GPR98_uc003kjt.2_5'UTR	p.E401Q	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	7	1297	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	401			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.1201G>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399187	0.42512	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.27890	1.64	5.85	5.85	0.93711	.	0.162837	0.52532	D	0.000064	T	0.46983	0.1421	L	0.55103	1.725	0.80722	D	1	D	0.71674	0.998	P	0.59221	0.854	T	0.18335	-1.0340	10	0.40728	T	0.16	.	16.4154	0.83732	0.0:0.1313:0.8687:0.0	.	401	Q8WXG9	GPR98_HUMAN	Q	401	ENSP00000384582:E401Q	ENSP00000296619:E401Q	E	+	1	0	GPR98	89959312	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	2.997000	0.49457	2.773000	0.95371	0.585000	0.79938	GAA		0.299	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119		8	39	0	0	0	1	0	8	39		
MCTP1	79772	broad.mit.edu	37	5	94278072	94278072	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:94278072C>G	ENST00000515393.1	-	4	1040	c.1041G>C	c.(1039-1041)ctG>ctC	p.L347L	MCTP1_ENST00000505208.1_Silent_p.L126L|MCTP1_ENST00000429576.2_Silent_p.L126L|MCTP1_ENST00000312216.8_Silent_p.L126L	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	347					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CCAATTGTGTCAGATCCAGAA	0.413																																						uc003kkx.2		NaN																	0				ovary(2)	2						c.(1039-1041)CTG>CTC		multiple C2 domains, transmembrane 1 isoform L							123.0	115.0	118.0					5																	94278072		2203	4300	6503	SO:0001819	synonymous_variant	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94278072C>G		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1041G>C	5.37:g.94278072C>G						MCTP1_uc003kkv.2_Silent_p.L126L|MCTP1_uc003kkw.2_Silent_p.L126L|MCTP1_uc003kkz.2_Silent_p.L8L	p.L347L	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	4	1041	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	347					Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Silent	SNP	ENST00000515393.1	37	c.1041G>C	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	C	8.794	0.931243	0.18131	.	.	ENSG00000175471	ENST00000503301	.	.	.	5.87	3.98	0.46160	.	.	.	.	.	T	0.56202	0.1969	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51068	-0.8752	4	.	.	.	-11.3145	7.1076	0.25372	0.162:0.2711:0.5669:0.0	.	.	.	.	H	156	.	.	D	-	1	0	MCTP1	94303828	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	0.947000	0.29082	0.801000	0.34066	-0.262000	0.10625	GAC		0.413	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3		NM_024717		18	45	0	0	0	1	0	18	45		
ARSK	153642	broad.mit.edu	37	5	94936565	94936565	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:94936565C>T	ENST00000380009.4	+	7	1316	c.1111C>T	c.(1111-1113)Cct>Tct	p.P371S		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	371					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TGCTGGAATTCCTCTGCCTCA	0.333																																						uc003kld.2		NaN																	0				pancreas(1)	1						c.(1111-1113)CCT>TCT		arylsulfatase K precursor							136.0	133.0	134.0					5																	94936565		2203	4300	6503	SO:0001583	missense	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94936565C>T		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"""Arylsulfatase family"""	25239	protein-coding gene	gene with protein product		610011	"""arylsulfatase K"""			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.1111C>T	5.37:g.94936565C>T	ENSP00000369346:p.Pro371Ser					ARSK_uc010jbg.2_Missense_Mutation_p.P212S|ARSK_uc011cum.1_RNA	p.P371S	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	7	1269	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	371					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Missense_Mutation	SNP	ENST00000380009.4	37	c.1111C>T	CCDS4073.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464134	0.26335	.	.	ENSG00000164291	ENST00000380009	D	0.99900	-7.62	5.73	2.77	0.32553	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.394066	0.28901	N	0.013772	D	0.98994	0.9657	L	0.28556	0.865	0.80722	D	1	B	0.20261	0.043	B	0.16722	0.016	D	0.99986	1.3245	10	0.15066	T	0.55	-12.6622	8.074	0.30706	0.0:0.7173:0.1273:0.1553	.	371	Q6UWY0	ARSK_HUMAN	S	371	ENSP00000369346:P371S	ENSP00000369346:P371S	P	+	1	0	ARSK	94962321	0.999000	0.42202	0.872000	0.34217	0.801000	0.45260	1.372000	0.34261	0.251000	0.21505	0.650000	0.86243	CCT		0.333	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2		NM_198150		20	69	0	0	0	1	0	20	69		
ERAP2	64167	broad.mit.edu	37	5	96237258	96237258	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:96237258T>G	ENST00000437043.3	+	11	2332	c.1621T>G	c.(1621-1623)Tgg>Ggg	p.W541G	ERAP2_ENST00000379904.4_Missense_Mutation_p.W496G|ERAP2_ENST00000515095.1_3'UTR|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	541					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GATGACTACATGGACTCTCCA	0.498																																						uc003kmq.2		NaN																	0					0						c.(1621-1623)TGG>GGG		endoplasmic reticulum aminopeptidase 2							98.0	96.0	96.0					5																	96237258		2203	4300	6503	SO:0001583	missense	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96237258T>G	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.1621T>G	5.37:g.96237258T>G	ENSP00000400376:p.Trp541Gly					uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.W541G|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.W490G|ERAP2_uc003kmu.2_RNA	p.W541G	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	11	2331	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	541			Lumenal (Potential).		Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	c.1621T>G	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004824	0.74932	.	.	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000379904	T;T;T	0.21361	2.01;2.01;2.01	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000002	T	0.59891	0.2227	H	0.96720	3.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74334	-0.3699	10	0.87932	D	0	.	13.252	0.60057	0.0:0.0:0.0:1.0	.	496;541	Q6P179-3;Q6P179	.;ERAP2_HUMAN	G	541;541;496	ENSP00000400376:W541G;ENSP00000421175:W541G;ENSP00000369235:W496G	ENSP00000369235:W496G	W	+	1	0	ERAP2	96263014	1.000000	0.71417	0.790000	0.31976	0.961000	0.63080	6.817000	0.75252	1.814000	0.52955	0.450000	0.29827	TGG		0.498	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2		NM_022350		25	76	0	0	0	1	0	25	76		
DCP2	167227	broad.mit.edu	37	5	112321592	112321592	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:112321592G>T	ENST00000389063.2	+	2	312	c.114G>T	c.(112-114)caG>caT	p.Q38H	DCP2_ENST00000515408.1_Missense_Mutation_p.Q38H|DCP2_ENST00000543319.1_Intron	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	38					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TGTGTTTTCAGATTGAACTTG	0.373																																						uc003kqh.2		NaN																	0					0						c.(112-114)CAG>CAT		DCP2 decapping enzyme							257.0	228.0	238.0					5																	112321592		2202	4300	6502	SO:0001583	missense	167227				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|protein binding|RNA binding	g.chr5:112321592G>T	AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"""Nudix motif containing"""	24452	protein-coding gene	gene with protein product	"""nudix (nucleoside diphosphate linked moiety X)-type motif 20"", ""M(7)GpppN-mRNA hydrolase"""	609844	"""DCP2 decapping enzyme homolog (S. cerevisiae)"""			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.114G>T	5.37:g.112321592G>T	ENSP00000373715:p.Gln38His					DCP2_uc011cwa.1_Intron	p.Q38H	NM_152624	NP_689837	Q8IU60	DCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)	2	312	+		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	38					C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Missense_Mutation	SNP	ENST00000389063.2	37	c.114G>T	CCDS34210.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379463	0.82682	.	.	ENSG00000172795	ENST00000515408;ENST00000389063	T;T	0.50548	0.74;0.74	5.24	5.24	0.73138	mRNA decapping protein 2, Box A (1);	0.000000	0.85682	D	0.000000	T	0.64757	0.2627	M	0.66560	2.04	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.63242	-0.6681	10	0.41790	T	0.15	.	12.54	0.56163	0.0767:0.0:0.9233:0.0	.	38	Q8IU60	DCP2_HUMAN	H	38	ENSP00000425770:Q38H;ENSP00000373715:Q38H	ENSP00000373715:Q38H	Q	+	3	2	DCP2	112349491	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.619000	0.61218	2.617000	0.88574	0.591000	0.81541	CAG		0.373	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3		NM_152624		32	86	1	0	4.2108e-06	1	4.32054e-06	32	86		
DMXL1	1657	broad.mit.edu	37	5	118500366	118500366	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:118500366G>C	ENST00000311085.8	+	20	4947	c.4867G>C	c.(4867-4869)Gaa>Caa	p.E1623Q	DMXL1_ENST00000539542.1_Missense_Mutation_p.E1623Q	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1623										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAAATGCATAGAAAAAGTAAG	0.408																																						uc003ksd.2		NaN																	0				ovary(2)	2						c.(4867-4869)GAA>CAA		Dmx-like 1							97.0	104.0	102.0					5																	118500366		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118500366G>C	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.4867G>C	5.37:g.118500366G>C	ENSP00000309690:p.Glu1623Gln					DMXL1_uc010jcl.1_Missense_Mutation_p.E1623Q	p.E1623Q	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	20	5048	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1623						Missense_Mutation	SNP	ENST00000311085.8	37	c.4867G>C	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520546	0.85495	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.56941	0.43;0.43	5.59	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.76891	0.4051	M	0.89601	3.045	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82049	-0.0650	10	0.66056	D	0.02	-21.0443	14.2136	0.65779	0.0716:0.0:0.9284:0.0	.	1623;1623	F5H269;Q9Y485	.;DMXL1_HUMAN	Q	1623	ENSP00000309690:E1623Q;ENSP00000439479:E1623Q	ENSP00000309690:E1623Q	E	+	1	0	DMXL1	118528265	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.744000	0.98853	1.360000	0.45960	0.585000	0.79938	GAA		0.408	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1		NM_005509		21	83	0	0	0	1	0	21	83		
ZNF608	57507	broad.mit.edu	37	5	123982976	123982976	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:123982976G>C	ENST00000306315.5	-	4	3536	c.3101C>G	c.(3100-3102)tCt>tGt	p.S1034C	ZNF608_ENST00000513985.1_5'Flank|ZNF608_ENST00000504926.1_Missense_Mutation_p.S607C	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1034							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		ATCTTCCTCAGACTCCTTCTT	0.493																																						uc003ktq.1		NaN																	0				skin(3)|ovary(2)|lung(1)	6						c.(3100-3102)TCT>TGT		zinc finger protein 608							157.0	147.0	150.0					5																	123982976		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123982976G>C	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.3101C>G	5.37:g.123982976G>C	ENSP00000307746:p.Ser1034Cys					ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.S1034C|ZNF608_uc003ktt.1_Missense_Mutation_p.S1034C|ZNF608_uc003ktp.1_5'Flank	p.S1034C	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	3224	-		all_cancers(142;0.186)|Prostate(80;0.081)	1034					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.3101C>G	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	G	9.911	1.209481	0.22289	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.47177	0.85;0.85	5.87	4.99	0.66335	.	0.309768	0.35838	N	0.002946	T	0.41673	0.1169	L	0.36672	1.1	0.32175	N	0.581158	B	0.06786	0.001	B	0.06405	0.002	T	0.49771	-0.8904	10	0.56958	D	0.05	-8.3025	16.5937	0.84789	0.0:0.1407:0.8593:0.0	.	1034	Q9ULD9	ZN608_HUMAN	C	607;1034	ENSP00000427657:S607C;ENSP00000307746:S1034C	ENSP00000307746:S1034C	S	-	2	0	ZNF608	124010875	0.606000	0.26949	0.999000	0.59377	0.987000	0.75469	2.465000	0.45075	1.450000	0.47717	0.643000	0.83706	TCT		0.493	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1		XM_114432		43	134	0	0	0	1	0	43	134		
FNIP1	96459	broad.mit.edu	37	5	130982830	130982830	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:130982830C>G	ENST00000510461.1	-	17	3470	c.3375G>C	c.(3373-3375)ctG>ctC	p.L1125L	FNIP1_ENST00000307968.7_Silent_p.L1097L|FNIP1_ENST00000307954.8_Silent_p.L1080L|CTC-432M15.3_ENST00000514667.1_Intron	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	1125					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TCTGCCCCCTCAGGTATTCAG	0.468																																						uc003kvs.1		NaN																	0				pancreas(1)|skin(1)	2						c.(3373-3375)CTG>CTC		folliculin interacting protein 1 isoform 1							203.0	181.0	189.0					5																	130982830		2203	4300	6503	SO:0001819	synonymous_variant	96459				regulation of protein phosphorylation	cytoplasm	protein binding	g.chr5:130982830C>G	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.3375G>C	5.37:g.130982830C>G						RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Silent_p.L1097L	p.L1125L	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	17	3517	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	1125					D6RJH5|Q86T47|Q9BUT0	Silent	SNP	ENST00000510461.1	37	c.3375G>C	CCDS34227.1																																																																																				0.468	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1		NM_133372		34	128	0	0	0	1	0	34	128		
FSTL4	23105	broad.mit.edu	37	5	132652162	132652162	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:132652162C>G	ENST00000265342.7	-	5	841	c.592G>C	c.(592-594)Gaa>Caa	p.E198Q		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	198	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAGCCAGTTCGGAGCTGCTG	0.557																																						uc003kyn.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(592-594)GAA>CAA		follistatin-like 4 precursor							66.0	62.0	63.0					5																	132652162		2203	4300	6503	SO:0001583	missense	23105					extracellular region	calcium ion binding	g.chr5:132652162C>G	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.592G>C	5.37:g.132652162C>G	ENSP00000265342:p.Glu198Gln						p.E198Q	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	810	-		all_cancers(142;0.244)	198			Potential.|EF-hand.		Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	c.592G>C	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973666	0.53720	.	.	ENSG00000053108	ENST00000265342	T	0.71341	-0.56	5.41	5.41	0.78517	EF-hand-like domain (1);	0.099482	0.64402	D	0.000002	D	0.88566	0.6471	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91213	0.5000	10	0.72032	D	0.01	-23.322	16.7213	0.85410	0.0:1.0:0.0:0.0	.	198	Q6MZW2	FSTL4_HUMAN	Q	198	ENSP00000265342:E198Q	ENSP00000265342:E198Q	E	-	1	0	FSTL4	132680061	1.000000	0.71417	0.923000	0.36655	0.034000	0.12701	6.478000	0.73596	2.704000	0.92352	0.561000	0.74099	GAA		0.557	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1		XM_048786		17	73	0	0	0	1	0	17	73		
SEC24A	10802	broad.mit.edu	37	5	134060783	134060783	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:134060783G>A	ENST00000398844.2	+	23	3569	c.3281G>A	c.(3280-3282)tGa>tAa	p.*1094*		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	0					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGAATAAATGAATGAATGAA	0.308																																						uc003kzs.2		NaN																	0					0						c.(3280-3282)TGA>TAA		SEC24 related gene family, member A							39.0	37.0	38.0					5																	134060783		1833	4067	5900	SO:0001819	synonymous_variant	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134060783G>A	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.3281G>A	5.37:g.134060783G>A						SEC24A_uc011cxu.1_Silent_p.*858*	p.*1094*	NM_021982	NP_068817	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		23	3569	+			1094					A8MVW3|Q8WUV2|Q96GP7	Silent	SNP	ENST00000398844.2	37	c.3281G>A	CCDS43363.1																																																																																				0.308	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1				6	18	0	0	0	1	0	6	18		
CATSPER3	347732	broad.mit.edu	37	5	134346119	134346119	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:134346119G>C	ENST00000282611.6	+	7	1079	c.993G>C	c.(991-993)ttG>ttC	p.L331F		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	331					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAAGACCTTGAGCCACACTG	0.463																																						uc003lag.2		NaN																	0				ovary(1)	1						c.(991-993)TTG>TTC		cation channel, sperm associated 3							146.0	136.0	139.0					5																	134346119		2203	4300	6503	SO:0001583	missense	347732				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr5:134346119G>C	AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"""Voltage-gated ion channels / Cation channels, sperm associated"""	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.993G>C	5.37:g.134346119G>C	ENSP00000282611:p.Leu331Phe						p.L331F	NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		7	1061	+			331					Q86XS6	Missense_Mutation	SNP	ENST00000282611.6	37	c.993G>C	CCDS4181.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011286	0.35511	.	.	ENSG00000152705	ENST00000282611	D	0.97772	-4.53	4.68	3.79	0.43588	.	0.165528	0.28847	N	0.013948	D	0.98049	0.9357	M	0.65498	2.005	0.26055	N	0.981426	D	0.89917	1.0	D	0.68353	0.957	D	0.94108	0.7368	10	0.87932	D	0	-11.5209	12.1161	0.53866	0.0:0.0:0.8277:0.1723	.	331	Q86XQ3	CTSR3_HUMAN	F	331	ENSP00000282611:L331F	ENSP00000282611:L331F	L	+	3	2	CATSPER3	134374018	0.007000	0.16637	0.508000	0.27688	0.183000	0.23260	0.085000	0.14912	1.526000	0.49068	0.655000	0.94253	TTG		0.463	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2		NM_178019		39	69	0	0	0	1	0	39	69		
DCANP1	140947	broad.mit.edu	37	5	134785491	134785491	+	5'Flank	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:134785491G>A	ENST00000503143.2	-	0	0				TIFAB_ENST00000537858.1_Nonsense_Mutation_p.Q47*|CTB-138E5.1_ENST00000510230.1_RNA	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN								nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCTGCAGCTGGAGGTGGGCG	0.672																																						uc003law.3		NaN																	0					0						c.(139-141)CAG>TAG		TIFA-related protein TIFAB							34.0	42.0	39.0					5																	134785491		2124	4220	6344	SO:0001631	upstream_gene_variant	497189							g.chr5:134785491G>A																													5.37:g.134785491G>A	Exception_encountered					C5orf20_uc003lav.2_5'Flank	p.Q47*	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	340	-			47			FHA.			Nonsense_Mutation	SNP	ENST00000503143.2	37	c.139C>T	CCDS4186.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867603	0.72065	.	.	ENSG00000255833	ENST00000537858	.	.	.	4.91	3.9	0.45041	.	0.820124	0.10515	U	0.665638	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2032	0.37272	0.0:0.0:0.729:0.271	.	.	.	.	X	47	.	ENSP00000440509:Q47X	Q	-	1	0	TIFAB	134813390	0.679000	0.27596	0.946000	0.38457	0.140000	0.21249	1.347000	0.33975	2.426000	0.82243	0.563000	0.77884	CAG		0.672	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1				27	75	0	0	0	1	0	27	75		
SPOCK1	6695	broad.mit.edu	37	5	136403437	136403437	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:136403437G>A	ENST00000394945.1	-	6	725	c.556C>T	c.(556-558)Cct>Tct	p.P186S	SPOCK1_ENST00000282223.7_Missense_Mutation_p.P186S	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	186					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTGGCTCAGGCTCTGGGAGA	0.547																																						uc003lbo.2		NaN																	0				ovary(1)	1						c.(556-558)CCT>TCT		sparc/osteonectin, cwcv and kazal-like domains							171.0	150.0	157.0					5																	136403437		2203	4300	6503	SO:0001583	missense	6695				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr5:136403437G>A	AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.556C>T	5.37:g.136403437G>A	ENSP00000378401:p.Pro186Ser					SPOCK1_uc003lbp.2_Missense_Mutation_p.P186S	p.P186S	NM_004598	NP_004589	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		5	747	-			186					B3KSW3|Q59EW0|Q8N630|Q9UCL8	Missense_Mutation	SNP	ENST00000394945.1	37	c.556C>T	CCDS4191.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557952	0.45590	.	.	ENSG00000152377	ENST00000394945;ENST00000282223;ENST00000510689	T;T;T	0.46819	0.98;0.98;0.86	5.62	5.62	0.85841	EF-hand-like domain (1);	0.699964	0.14013	N	0.347313	T	0.38134	0.1029	L	0.29908	0.895	0.35494	D	0.799219	B	0.30326	0.276	B	0.28553	0.091	T	0.40831	-0.9542	10	0.21540	T	0.41	.	16.3933	0.83546	0.0:0.0:1.0:0.0	.	186	Q08629	TICN1_HUMAN	S	186;186;41	ENSP00000378401:P186S;ENSP00000282223:P186S;ENSP00000421677:P41S	ENSP00000282223:P186S	P	-	1	0	SPOCK1	136431336	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.254000	0.58798	2.648000	0.89879	0.655000	0.94253	CCT		0.547	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1		NM_004598		37	92	0	0	0	1	0	37	92		
MATR3	9782	broad.mit.edu	37	5	138643397	138643397	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:138643397C>T	ENST00000394805.3	+	2	628	c.293C>T	c.(292-294)tCt>tTt	p.S98F	MATR3_ENST00000510056.1_Missense_Mutation_p.S98F|MATR3_ENST00000361059.2_Missense_Mutation_p.S98F|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000502929.1_Missense_Mutation_p.S98F|MATR3_ENST00000394800.2_Missense_Mutation_p.S98F|MATR3_ENST00000509990.1_Missense_Mutation_p.S98F	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	98					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTCCCTTTATCTTCTCAACAC	0.443																																						uc003ldu.2		NaN																	0				ovary(1)	1						c.(292-294)TCT>TTT		matrin 3							91.0	86.0	87.0					5																	138643397		2203	4300	6503	SO:0001583	missense	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138643397C>T	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.293C>T	5.37:g.138643397C>T	ENSP00000378284:p.Ser98Phe					MATR3_uc003lds.2_Missense_Mutation_p.S98F|MATR3_uc010jfb.2_Missense_Mutation_p.S98F|MATR3_uc003ldt.2_Intron|MATR3_uc003ldw.2_Missense_Mutation_p.S98F|MATR3_uc003ldx.2_Missense_Mutation_p.S98F|MATR3_uc010jfc.2_Missense_Mutation_p.S98F|MATR3_uc003ldy.2_Intron|MATR3_uc011czb.1_Intron|MATR3_uc003ldz.2_Missense_Mutation_p.S98F|MATR3_uc003lea.2_Missense_Mutation_p.S98F	p.S98F	NM_199189	NP_954659	P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		5	720	+			98					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	c.293C>T	CCDS4210.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082026	0.55861	.	.	ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000514694;ENST00000502929;ENST00000394800;ENST00000502394;ENST00000394805;ENST00000504045;ENST00000510056;ENST00000514488	T;T;D;T;T;T;T;T;T;T	0.81499	-0.98;-0.98;-1.5;-0.99;-0.99;-1.44;-0.98;-1.37;-0.99;-1.44	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.81659	0.4869	N	0.08118	0	0.52501	D	0.999959	D;P;D	0.65815	0.995;0.86;0.995	D;P;D	0.72982	0.979;0.879;0.979	D	0.85711	0.1319	10	0.87932	D	0	-9.0487	20.114	0.97919	0.0:1.0:0.0:0.0	.	98;98;98	D6REM6;A8MXP9;P43243	.;.;MATR3_HUMAN	F	98	ENSP00000423533:S98F;ENSP00000354346:S98F;ENSP00000422233:S98F;ENSP00000422319:S98F;ENSP00000378279:S98F;ENSP00000427168:S98F;ENSP00000378284:S98F;ENSP00000423290:S98F;ENSP00000426743:S98F;ENSP00000426801:S98F	ENSP00000354346:S98F	S	+	2	0	MATR3	138671296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.443000	0.59994	2.763000	0.94921	0.585000	0.79938	TCT		0.443	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2		NM_018834		24	77	0	0	0	1	0	24	77		
ANKHD1	54882	broad.mit.edu	37	5	139865267	139865267	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:139865267C>T	ENST00000360839.2	+	13	2246	c.2092C>T	c.(2092-2094)Ccc>Tcc	p.P698S	ANKHD1_ENST00000297183.6_Missense_Mutation_p.P698S|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P698S	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	698						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGTCAGTTCCCACCACAGA	0.383																																						uc003lfs.1		NaN																	0				ovary(6)	6						c.(2092-2094)CCC>TCC		ANKHD1-EIF4EBP3 protein							146.0	138.0	141.0					5																	139865267		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139865267C>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.2092C>T	5.37:g.139865267C>T	ENSP00000354085:p.Pro698Ser					ANKHD1_uc003lfq.1_Missense_Mutation_p.P717S|ANKHD1_uc003lfr.2_Missense_Mutation_p.P698S|ANKHD1_uc003lft.1_Missense_Mutation_p.P178S|ANKHD1_uc003lfu.1_Missense_Mutation_p.P178S|ANKHD1_uc003lfv.1_Missense_Mutation_p.P28S	p.P698S	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	2216	+			698					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.2092C>T	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846741	0.71603	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000532219	T;T;T;T;T	0.68025	-0.26;-0.3;-0.25;-0.27;-0.3	5.26	4.38	0.52667	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.74543	0.3730	M	0.61703	1.905	0.80722	D	1	B;P;D;B;B	0.63880	0.012;0.607;0.993;0.307;0.147	B;B;P;B;B	0.55508	0.009;0.187;0.777;0.051;0.035	T	0.75900	-0.3154	10	0.44086	T	0.13	.	15.6089	0.76699	0.1387:0.8613:0.0:0.0	.	178;698;717;698;698	E7ET58;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3	.;.;.;.;ANKH1_HUMAN	S	698;731;698;698;232;178;717;104;698	ENSP00000354085:P698S;ENSP00000297183:P698S;ENSP00000394489:P717S;ENSP00000405602:P104S;ENSP00000432016:P698S	ENSP00000432016:P698S	P	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139845451	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	4.938000	0.63519	1.331000	0.45412	-0.310000	0.09108	CCC		0.383	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1		NM_017747		19	41	0	0	0	1	0	19	41		
ANKHD1	54882	broad.mit.edu	37	5	139907508	139907508	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:139907508G>A	ENST00000360839.2	+	28	5292	c.5138G>A	c.(5137-5139)aGa>aAa	p.R1713K	ANKHD1_ENST00000297183.6_Missense_Mutation_p.R1713K|ANKHD1_ENST00000544120.1_Missense_Mutation_p.R96K|SNORD45_ENST00000363181.1_RNA|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R1713K	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1713	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAATGGGAAGAGGAGGATGC	0.378																																						uc003lfs.1		NaN																	0				ovary(6)	6						c.(5137-5139)AGA>AAA		ANKHD1-EIF4EBP3 protein							119.0	102.0	108.0					5																	139907508		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139907508G>A	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.5138G>A	5.37:g.139907508G>A	ENSP00000354085:p.Arg1713Lys					ANKHD1_uc003lfr.2_Missense_Mutation_p.R1713K|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.R452K|ANKHD1_uc003lfw.2_Missense_Mutation_p.R351K|ANKHD1_uc010jfl.2_Missense_Mutation_p.R148K|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	p.R1713K	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		28	5262	+			1713					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.5138G>A	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354667	0.82243	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000536646;ENST00000433049;ENST00000544120;ENST00000532219	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	5.56	5.56	0.83823	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	N	0.21142	0.635	0.80722	D	1	P;D;D;D;D	0.63046	0.71;0.992;0.992;0.992;0.992	P;D;D;D;D	0.77004	0.679;0.989;0.989;0.987;0.987	T	0.34403	-0.9830	10	0.72032	D	0.01	.	19.534	0.95242	0.0:0.0:1.0:0.0	.	96;143;1713;1713;1713	Q8IWG5;Q9H059;E9PF56;Q8IWZ2;Q8IWZ3	.;.;.;.;ANKH1_HUMAN	K	1713;1713;1713;369;148;235;96;1713	ENSP00000354085:R1713K;ENSP00000297183:R1713K;ENSP00000393204:R369K;ENSP00000390034:R235K;ENSP00000437687:R96K;ENSP00000432016:R1713K	ENSP00000432016:R1713K	R	+	2	0	ANKHD1-EIF4EBP3;ANKHD1	139887692	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.613000	0.88420	0.655000	0.94253	AGA		0.378	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1		NM_017747		7	29	0	0	0	1	0	7	29		
ANKHD1	54882	broad.mit.edu	37	5	139907514	139907514	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:139907514G>T	ENST00000360839.2	+	28	5298	c.5144G>T	c.(5143-5145)gGa>gTa	p.G1715V	ANKHD1_ENST00000297183.6_Missense_Mutation_p.G1715V|ANKHD1_ENST00000544120.1_Missense_Mutation_p.G98V|SNORD45_ENST00000363181.1_RNA|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.G1715V	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1715	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGAGGAGGATGCAACATC	0.378																																						uc003lfs.1		NaN																	0				ovary(6)	6						c.(5143-5145)GGA>GTA		ANKHD1-EIF4EBP3 protein							127.0	108.0	114.0					5																	139907514		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139907514G>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.5144G>T	5.37:g.139907514G>T	ENSP00000354085:p.Gly1715Val					ANKHD1_uc003lfr.2_Missense_Mutation_p.G1715V|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.G454V|ANKHD1_uc003lfw.2_Missense_Mutation_p.G353V|ANKHD1_uc010jfl.2_Missense_Mutation_p.G150V|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	p.G1715V	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		28	5268	+			1715					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.5144G>T	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.02|19.02	3.746291|3.746291	0.69418|0.69418	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000536646;ENST00000433049;ENST00000544120;ENST00000532219|ENST00000435794;ENST00000432301	D;D;D;D;D;D|.	0.94184|.	-3.37;-3.37;-3.37;-3.37;-3.37;-3.37|.	5.56|5.56	5.56|5.56	0.83823|0.83823	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91375|0.91375	0.7279|0.7279	H|H	0.98818|0.98818	4.34|4.34	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0|.	D|D	0.94610|0.94610	0.7803|0.7803	10|5	0.87932|.	D|.	0|.	.|.	19.534|19.534	0.95242|0.95242	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	98;145;1715;1715;1715|.	Q8IWG5;Q9H059;E9PF56;Q8IWZ2;Q8IWZ3|.	.;.;.;.;ANKH1_HUMAN|.	V|S	1715;1715;1715;371;150;237;98;1715|205;165	ENSP00000354085:G1715V;ENSP00000297183:G1715V;ENSP00000393204:G371V;ENSP00000390034:G237V;ENSP00000437687:G98V;ENSP00000432016:G1715V|.	ENSP00000432016:G1715V|.	G|R	+|+	2|3	0|2	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139887698|139887698	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.476000|9.476000	0.97823|0.97823	2.613000|2.613000	0.88420|0.88420	0.655000|0.655000	0.94253|0.94253	GGA|AGG		0.378	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1		NM_017747		8	29	1	0	0.000274275	1	0.00027772	8	29		
EIF4EBP3	8637	broad.mit.edu	37	5	139928595	139928595	+	Missense_Mutation	SNP	C	C	G	rs374525939		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:139928595C>G	ENST00000310331.2	+	2	280	c.208C>G	c.(208-210)Cct>Gct	p.P70A	ANKHD1_ENST00000297183.6_Missense_Mutation_p.S2595C|SRA1_ENST00000520427.1_5'Flank|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S2595C	NM_003732.2	NP_003723.1	O60516	4EBP3_HUMAN	eukaryotic translation initiation factor 4E binding protein 3	70					negative regulation of translational initiation (GO:0045947)	eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	translation repressor activity (GO:0030371)			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCACAACTCCTCCAACAGC	0.567																																						uc003lfs.1		NaN																	0				ovary(6)	6						c.(7783-7785)TCC>TGC		ANKHD1-EIF4EBP3 protein							36.0	37.0	37.0					5																	139928595		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139928595C>G	AF038869	CCDS4226.1	5q31.3	2007-07-18			ENSG00000243056	ENSG00000243056			3290	protein-coding gene	gene with protein product		603483				9593750	Standard	NM_003732		Approved	4E-BP3	uc003lfy.1	O60516	OTTHUMG00000129498	ENST00000310331.2:c.208C>G	5.37:g.139928595C>G	ENSP00000308472:p.Pro70Ala					ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.S1351C|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.S740C|EIF4EBP3_uc003lfy.1_Missense_Mutation_p.P70A	p.S2595C	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		35	7908	+			2595						Missense_Mutation	SNP	ENST00000310331.2	37	c.7784C>G	CCDS4226.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.307475|4.307475	0.81247|0.81247	.|.	.|.	ENSG00000243056|ENSG00000131503;ENSG00000254996;ENSG00000254996	ENST00000310331|ENST00000297183;ENST00000532219;ENST00000437495	.|T;T;T	.|0.72051	.|-0.62;-0.62;0.63	4.39|4.39	4.39|4.39	0.52855|0.52855	.|.	.|.	.|.	.|.	.|.	T|T	0.74397|0.74397	0.3711|0.3711	M|M	0.85197|0.85197	2.74|2.74	0.49389|0.49389	D|D	0.999784|0.999784	P|B	0.35468|0.22480	0.503|0.07	B|B	0.32677|0.30179	0.15|0.112	T|T	0.73199|0.73199	-0.4058|-0.4058	7|8	.|.	.|.	.|.	.|.	13.6956|13.6956	0.62578|0.62578	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	70|2595	O60516|Q8IWZ2	4EBP3_HUMAN|.	A|C	70|2595;2595;614	.|ENSP00000297183:S2595C;ENSP00000432016:S2595C;ENSP00000396882:S614C	.|.	P|S	+|+	1|2	0|0	EIF4EBP3|ANKHD1-EIF4EBP3;ANKHD1	139908779|139908779	0.652000|0.652000	0.27349|0.27349	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.425000|4.425000	0.59875|0.59875	1.997000|1.997000	0.58415|0.58415	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.567	EIF4EBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251668.2		NM_003732		9	41	0	0	0	1	0	9	41		
PCDHA1	56147	broad.mit.edu	37	5	140166574	140166574	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140166574C>T	ENST00000504120.2	+	1	699	c.699C>T	c.(697-699)ctC>ctT	p.L233L	PCDHA1_ENST00000378133.3_Silent_p.L233L|PCDHA1_ENST00000394633.3_Silent_p.L233L	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	233	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACCGTCCTCGACGTTAATG	0.473																																						uc003lhb.2		NaN																	0				skin(1)	1						c.(697-699)CTC>CTT		protocadherin alpha 1 isoform 1 precursor							91.0	90.0	90.0					5																	140166574		2203	4300	6503	SO:0001819	synonymous_variant	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140166574C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.699C>T	5.37:g.140166574C>T						PCDHA1_uc003lha.2_Silent_p.L233L|PCDHA1_uc003lgz.2_Silent_p.L233L	p.L233L	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	699	+			233			Cadherin 2.|Extracellular (Potential).		O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.699C>T	CCDS54913.1																																																																																				0.473	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1		NM_018900		27	89	0	0	0	1	0	27	89		
PCDHA1	56147	broad.mit.edu	37	5	140168060	140168060	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140168060G>A	ENST00000504120.2	+	1	2185	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	PCDHA1_ENST00000378133.3_Missense_Mutation_p.E729K|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	729					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCCCACTGAGGGTGCGTA	0.642																																						uc003lhb.2		NaN																	0				skin(1)	1						c.(2185-2187)GAG>AAG		protocadherin alpha 1 isoform 1 precursor							50.0	45.0	47.0					5																	140168060		2203	4299	6502	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140168060G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.2185G>A	5.37:g.140168060G>A	ENSP00000420840:p.Glu729Lys					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.E729K	p.E729K	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2185	+			729			Cytoplasmic (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.2185G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	10.52	1.372949	0.24857	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.13657	2.57;2.57	4.16	3.2	0.36748	.	0.413619	0.17386	U	0.176106	T	0.20659	0.0497	M	0.89904	3.07	0.19945	N	0.999942	B;B	0.25850	0.009;0.136	B;B	0.23852	0.01;0.049	T	0.19614	-1.0300	10	0.54805	T	0.06	.	5.8616	0.18752	0.1181:0.3426:0.5394:0.0	.	729;729	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	K	729	ENSP00000420840:E729K;ENSP00000367373:E729K	ENSP00000367373:E729K	E	+	1	0	PCDHA1	140148244	0.000000	0.05858	0.147000	0.22382	0.011000	0.07611	-0.047000	0.11963	2.041000	0.60428	0.644000	0.83932	GAG		0.642	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1		NM_018900		24	75	0	0	0	1	0	24	75		
PCDHA4	56144	broad.mit.edu	37	5	140188377	140188377	+	Silent	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140188377G>T	ENST00000530339.1	+	1	1605	c.1605G>T	c.(1603-1605)gtG>gtT	p.V535V	PCDHA4_ENST00000512229.2_Silent_p.V535V|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.V535V|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	535	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTTCAGGTGACCGCTCGCG	0.652																																						uc003lhi.2		NaN																	0				ovary(4)|skin(2)	6						c.(1603-1605)GTG>GTT		protocadherin alpha 4 isoform 1 precursor							63.0	70.0	68.0					5																	140188377		2203	4300	6503	SO:0001819	synonymous_variant	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140188377G>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1605G>T	5.37:g.140188377G>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.V535V|PCDHA4_uc011daa.1_Silent_p.V535V	p.V535V	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1706	+			535			Cadherin 5.|Extracellular (Potential).		O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1605G>T	CCDS54916.1																																																																																				0.652	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2		NM_018907		59	106	1	0	2.66076e-39	1	2.84745e-39	59	106		
PCDHA8	56140	broad.mit.edu	37	5	140220969	140220969	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140220969C>G	ENST00000531613.1	+	1	63	c.63C>G	c.(61-63)ctC>ctG	p.L21L	PCDHA8_ENST00000378123.3_Silent_p.L21L|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	21					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGCTCCTCGCAGCCTGGA	0.567																																						uc003lhs.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(61-63)CTC>CTG		protocadherin alpha 8 isoform 1 precursor							65.0	68.0	67.0					5																	140220969		2203	4299	6502	SO:0001819	synonymous_variant	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140220969C>G	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.63C>G	5.37:g.140220969C>G						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.L21L	p.L21L	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	63	+			21					B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	c.63C>G	CCDS54919.1																																																																																				0.567	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2		NM_018911		50	117	0	0	0	1	0	50	117		
PCDHA11	56138	broad.mit.edu	37	5	140248873	140248873	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140248873G>A	ENST00000398640.2	+	1	185	c.185G>A	c.(184-186)cGc>cAc	p.R62H	PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	62	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGCAGCGCCTGTTCCGG	0.617																																						uc003lia.2		NaN																	0				breast(1)	1						c.(184-186)CGC>CAC		protocadherin alpha 11 isoform 1 precursor							73.0	85.0	81.0					5																	140248873		2203	4300	6503	SO:0001583	missense	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140248873G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.185G>A	5.37:g.140248873G>A	ENSP00000381636:p.Arg62His					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.R62H	p.R62H	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1043	+			62			Extracellular (Potential).|Cadherin 1.		B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.185G>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805944	0.90623	.	.	ENSG00000249158	ENST00000398640	T	0.41400	1.0	5.59	5.59	0.84812	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.73953	0.3653	M	0.93016	3.37	0.43988	D	0.996685	D;D	0.89917	1.0;1.0	D;D	0.72625	0.928;0.978	T	0.80101	-0.1523	9	0.66056	D	0.02	.	19.5993	0.95554	0.0:0.0:1.0:0.0	.	62;62	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	H	62	ENSP00000381636:R62H	ENSP00000381636:R62H	R	+	2	0	PCDHA11	140229057	0.939000	0.31865	1.000000	0.80357	0.995000	0.86356	5.196000	0.65136	2.628000	0.89032	0.655000	0.94253	CGC		0.617	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2		NM_018902		65	257	0	0	0	1	0	65	257		
PCDHA13	56136	broad.mit.edu	37	5	140262519	140262519	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140262519G>A	ENST00000289272.2	+	1	666	c.666G>A	c.(664-666)ctG>ctA	p.L222L	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Silent_p.L222L|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	222	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)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCCGAGCTGACTGGCACAG	0.453																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(664-666)CTG>CTA		protocadherin alpha 13 isoform 1 precursor							62.0	61.0	61.0					5																	140262519		2203	4300	6503	SO:0001819	synonymous_variant	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140262519G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.666G>A	5.37:g.140262519G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.L222L|PCDHA13_uc003lid.2_Silent_p.L222L	p.L222L	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	666	+			222			Extracellular (Potential).|Cadherin 2.		O75277	Silent	SNP	ENST00000289272.2	37	c.666G>A	CCDS4240.1																																																																																				0.453	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1		NM_018904		18	70	0	0	0	1	0	18	70		
PCDHB8	56128	broad.mit.edu	37	5	140559962	140559962	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140559962G>C	ENST00000239444.2	+	1	2592	c.2347G>C	c.(2347-2349)Gaa>Caa	p.E783Q	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	783					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			TTTTGGGCCAGAAATGGAACA	0.378																																						uc011dai.1		NaN																	0				skin(4)	4						c.(2347-2349)GAA>CAA		protocadherin beta 8 precursor							76.0	82.0	80.0					5																	140559962		2203	4300	6503	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559962G>C	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.2347G>C	5.37:g.140559962G>C	ENSP00000239444:p.Glu783Gln					PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	p.E783Q	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2533	+			783			Cytoplasmic (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.2347G>C	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.564104	0.27915	.	.	ENSG00000120322	ENST00000239444	T	0.14516	2.5	4.49	1.36	0.22044	.	.	.	.	.	T	0.18718	0.0449	M	0.85462	2.755	0.09310	N	1	B	0.18741	0.03	B	0.22601	0.04	T	0.30475	-0.9977	9	0.59425	D	0.04	.	4.1526	0.10245	0.0868:0.2957:0.4657:0.1518	.	783	Q9UN66	PCDB8_HUMAN	Q	783	ENSP00000239444:E783Q	ENSP00000239444:E783Q	E	+	1	0	PCDHB8	140540146	0.012000	0.17670	0.002000	0.10522	0.175000	0.22909	1.515000	0.35845	0.306000	0.22856	0.552000	0.68991	GAA		0.378	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2		NM_019120		21	98	0	0	0	1	0	21	98		
PCDHB15	56121	broad.mit.edu	37	5	140625700	140625700	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140625700G>C	ENST00000231173.3	+	1	554	c.554G>C	c.(553-555)cGa>cCa	p.R185P		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	185	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R185Q(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGCACCCGAGGGGATGGC	0.517																																						uc003lje.2		NaN																	1	Substitution - Missense(1)		NS(1)	ovary(2)|breast(2)|skin(1)	5						c.(553-555)CGA>CCA		protocadherin beta 15 precursor							44.0	45.0	45.0					5																	140625700		2203	4300	6503	SO:0001583	missense	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140625700G>C	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.554G>C	5.37:g.140625700G>C	ENSP00000231173:p.Arg185Pro						p.R185P	NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	554	+			185			Extracellular (Potential).|Cadherin 2.		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.554G>C	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.515116	0.27123	.	.	ENSG00000113248	ENST00000231173	T	0.20200	2.09	4.92	-1.61	0.08399	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.40067	0.1102	M	0.85099	2.735	0.09310	N	1	P	0.46656	0.882	P	0.61477	0.889	T	0.24083	-1.0170	9	0.39692	T	0.17	.	5.2054	0.15287	0.2806:0.0:0.4914:0.2281	.	185	Q9Y5E8	PCDBF_HUMAN	P	185	ENSP00000231173:R185P	ENSP00000231173:R185P	R	+	2	0	PCDHB15	140605884	0.000000	0.05858	0.001000	0.08648	0.514000	0.34195	-0.263000	0.08670	-0.308000	0.08792	-1.247000	0.01520	CGA		0.517	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2		NM_018935		27	62	0	0	0	1	0	27	62		
PCDHGC3	5098	broad.mit.edu	37	5	140857358	140857358	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140857358G>A	ENST00000308177.3	+	1	1779	c.1675G>A	c.(1675-1677)Gat>Aat	p.D559N	PCDHGA11_ENST00000398587.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	559	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTGTCACTGATCGCAATGA	0.557											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003lkv.1		NaN																	0				ovary(1)|skin(1)	2						c.(1675-1677)GAT>AAT		protocadherin gamma subfamily C, 3 isoform 1							54.0	57.0	56.0					5																	140857358		2203	4300	6503	SO:0001583	missense	5098				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140857358G>A	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1675G>A	5.37:g.140857358G>A	ENSP00000312070:p.Asp559Asn		OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1659	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_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.D559N|PCDHGC3_uc003lkw.1_Intron	p.D559N	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1790	+			559			Cadherin 5.|Extracellular (Potential).		O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	c.1675G>A	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399937	0.83120	.	.	ENSG00000240184	ENST00000308177	T	0.66638	-0.22	5.13	5.13	0.70059	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.90456	0.7011	H	0.99555	4.625	0.43183	D	0.995006	D;D	0.89917	0.997;1.0	D;D	0.97110	0.989;1.0	D	0.94276	0.7515	9	0.87932	D	0	.	19.1279	0.93393	0.0:0.0:1.0:0.0	.	559;559	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	N	559	ENSP00000312070:D559N	ENSP00000312070:D559N	D	+	1	0	PCDHGC3	140837542	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.601000	0.98297	2.824000	0.97209	0.655000	0.94253	GAT		0.557	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2		NM_002588		26	80	0	0	0	1	0	26	80		
SH3RF2	153769	broad.mit.edu	37	5	145393552	145393552	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:145393552C>T	ENST00000511217.1	+	4	1039	c.987C>T	c.(985-987)atC>atT	p.I329I	SH3RF2_ENST00000359120.4_Silent_p.I329I			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	329					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTGCTCATCAGCTCCAGCA	0.562																																						uc003lnt.2		NaN																	0				ovary(1)|skin(1)	2						c.(985-987)ATC>ATT		SH3 domain containing ring finger 2							115.0	113.0	114.0					5																	145393552		2203	4300	6503	SO:0001819	synonymous_variant	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145393552C>T	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.987C>T	5.37:g.145393552C>T						SH3RF2_uc011dbl.1_Silent_p.I329I	p.I329I	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	1225	+			329					A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	ENST00000511217.1	37	c.987C>T	CCDS4280.1																																																																																				0.562	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1		NM_152550		47	142	0	0	0	1	0	47	142		
PPP2R2B	5521	broad.mit.edu	37	5	145969658	145969658	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:145969658A>C	ENST00000394413.3	-	9	1754	c.1184T>G	c.(1183-1185)gTg>gGg	p.V395G	PPP2R2B_ENST00000356826.3_Missense_Mutation_p.V395G|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.V453G|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.V384G|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.V384G|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.V398G|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.V395G|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.V401G|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.V395G|PPP2R2B_ENST00000530902.1_5'UTR|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.V461G			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	395					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.V398G(2)|p.V453G(1)|p.V395G(1)|p.V384G(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTGCCCCCCACACACACTTT	0.488																																						uc003loe.2		NaN																	5	Substitution - Missense(5)	p.V398G(1)	endometrium(4)|ovary(1)	ovary(1)|prostate(1)	2						c.(1183-1185)GTG>GGG		beta isoform of regulatory subunit B55, protein							136.0	142.0	140.0					5																	145969658		2203	4300	6503	SO:0001583	missense	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:145969658A>C	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.1184T>G	5.37:g.145969658A>C	ENSP00000377935:p.Val395Gly					PPP2R2B_uc010jgm.2_Missense_Mutation_p.V384G|PPP2R2B_uc003log.3_Missense_Mutation_p.V395G|PPP2R2B_uc003lof.3_Missense_Mutation_p.V395G|PPP2R2B_uc003loi.3_Missense_Mutation_p.V398G|PPP2R2B_uc003loh.3_Missense_Mutation_p.V395G|PPP2R2B_uc003loj.3_Missense_Mutation_p.V375G|PPP2R2B_uc003lok.3_Missense_Mutation_p.V384G|PPP2R2B_uc011dbu.1_Missense_Mutation_p.V401G|PPP2R2B_uc011dbv.1_Missense_Mutation_p.V453G	p.V395G	NM_004576	NP_004567	Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1709	-			395					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	c.1184T>G	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.379009	0.42207	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.73897	-0.79;-0.79;1.51;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;1.51	5.82	5.82	0.92795	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.64114	0.2569	L	0.31664	0.95	0.80722	D	1	B;B;B;B;B;B	0.06786	0.001;0.001;0.0;0.001;0.0;0.0	B;B;B;B;B;B	0.10450	0.005;0.003;0.003;0.005;0.001;0.002	T	0.58792	-0.7574	10	0.19147	T	0.46	-8.1571	16.1814	0.81903	1.0:0.0:0.0:0.0	.	453;401;384;461;398;395	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	G	395;384;461;395;395;395;384;398;401;453	ENSP00000377935:V395G;ENSP00000431320:V384G;ENSP00000377936:V461G;ENSP00000377933:V395G;ENSP00000349283:V395G;ENSP00000398779:V395G;ENSP00000377932:V384G;ENSP00000336591:V398G;ENSP00000421396:V401G;ENSP00000377931:V453G	ENSP00000336591:V398G	V	-	2	0	AC011357.1	145949851	0.995000	0.38212	1.000000	0.80357	0.983000	0.72400	3.460000	0.53028	2.234000	0.73211	0.533000	0.62120	GTG		0.488	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2		NM_181678		37	133	0	0	0	1	0	37	133		
ADRB2	154	broad.mit.edu	37	5	148206577	148206577	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:148206577C>T	ENST00000305988.4	+	1	422	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	61					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	TTGCCAAGTTCGAGCGTCTGC	0.582																																						uc003lpr.1		NaN																	0				ovary(1)	1						c.(181-183)TTC>TTT		adrenergic, beta-2-, receptor, surface	Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)						126.0	116.0	119.0					5																	148206577		2203	4300	6503	SO:0001819	synonymous_variant	154				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	g.chr5:148206577C>T	AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"""GPCR / Class A : Adrenoceptors : beta"""	286	protein-coding gene	gene with protein product		109690	"""adrenergic, beta-2-, receptor, surface"""	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.183C>T	5.37:g.148206577C>T						SH3TC2_uc003lpp.1_Intron	p.F61F	NM_000024	NP_000015	P07550	ADRB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	422	+			61			Cytoplasmic.		B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Silent	SNP	ENST00000305988.4	37	c.183C>T	CCDS4292.1																																																																																				0.582	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1		NM_000024		24	75	0	0	0	1	0	24	75		
PDE6A	5145	broad.mit.edu	37	5	149264428	149264428	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:149264428G>C	ENST00000255266.5	-	15	1960	c.1841C>G	c.(1840-1842)tCc>tGc	p.S614C		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	614					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	TGGGTTCTGGGATCTGAATGA	0.468																																						uc003lrg.3		NaN																	0				ovary(1)|pancreas(1)	2						c.(1840-1842)TCC>TGC		phosphodiesterase 6A							74.0	73.0	73.0					5																	149264428		2203	4300	6503	SO:0001583	missense	5145				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr5:149264428G>C		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.1841C>G	5.37:g.149264428G>C	ENSP00000255266:p.Ser614Cys						p.S614C	NM_000440	NP_000431	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		15	1961	-			614					Q0P638	Missense_Mutation	SNP	ENST00000255266.5	37	c.1841C>G	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523139	0.64747	.	.	ENSG00000132915	ENST00000255266	D	0.83837	-1.77	5.42	5.42	0.78866	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.91050	0.7184	M	0.79011	2.435	0.51767	D	0.999934	D	0.89917	1.0	D	0.79108	0.992	D	0.91797	0.5448	10	0.87932	D	0	.	17.0655	0.86558	0.0:0.0:1.0:0.0	.	614	P16499	PDE6A_HUMAN	C	614	ENSP00000255266:S614C	ENSP00000255266:S614C	S	-	2	0	PDE6A	149244621	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	6.989000	0.76219	2.705000	0.92388	0.557000	0.71058	TCC		0.468	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2				16	56	0	0	0	1	0	16	56		
SLC6A7	6534	broad.mit.edu	37	5	149576666	149576666	+	Silent	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:149576666C>A	ENST00000230671.2	+	4	782	c.411C>A	c.(409-411)atC>atA	p.I137I	SLC6A7_ENST00000524041.1_Silent_p.I137I	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	137					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	ACATGATCATCGCCTACGTGC	0.622																																						uc003lrr.2		NaN																	0					0						c.(409-411)ATC>ATA		solute carrier family 6, member 7	L-Proline(DB00172)						145.0	127.0	133.0					5																	149576666		2203	4300	6503	SO:0001819	synonymous_variant	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149576666C>A	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.411C>A	5.37:g.149576666C>A							p.I137I	NM_014228	NP_055043	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	782	+		all_hematologic(541;0.224)	137			Helical; Name=3; (Potential).		Q0VG81|Q52LU6	Silent	SNP	ENST00000230671.2	37	c.411C>A	CCDS4305.1																																																																																				0.622	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1		NM_014228		22	65	1	0	1.2644e-06	1	1.30368e-06	22	65		
NDST1	3340	broad.mit.edu	37	5	149932879	149932879	+	Silent	SNP	C	C	G	rs550785219		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:149932879C>G	ENST00000261797.6	+	15	3136	c.2634C>G	c.(2632-2634)ctC>ctG	p.L878L	NDST1_ENST00000523767.1_Silent_p.L821L|NDST1_ENST00000521752.1_3'UTR	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	878	Heparan sulfate N-sulfotransferase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGAGGACCTCCAGAACACCA	0.567																																						uc003lsk.3		NaN																	0				breast(1)|skin(1)	2						c.(2632-2634)CTC>CTG		N-deacetylase/N-sulfotransferase (heparan							211.0	210.0	210.0					5																	149932879		2203	4300	6503	SO:0001819	synonymous_variant	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149932879C>G	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.2634C>G	5.37:g.149932879C>G						NDST1_uc011dcj.1_Silent_p.L821L	p.L878L	NM_001543	NP_001534	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		15	3136	+		all_hematologic(541;0.224)	878			Heparan sulfate N-sulfotransferase 1.|Lumenal (Potential).		Q96E57	Silent	SNP	ENST00000261797.6	37	c.2634C>G	CCDS34277.1																																																																																				0.567	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2		NM_001543		66	375	0	0	0	1	0	66	375		
ANXA6	309	broad.mit.edu	37	5	150512094	150512094	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:150512094C>T	ENST00000354546.5	-	10	906	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000356496.5_Missense_Mutation_p.E227K|ANXA6_ENST00000523714.1_Missense_Mutation_p.E195K	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	227				IE -> MK (in Ref. 2; AAA35656). {ECO:0000305}.	calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGCTGGCTTCAATCGGCTTC	0.542																																						uc003ltl.1		NaN																	0					0						c.(679-681)GAA>AAA		annexin VI isoform 1							50.0	51.0	51.0					5																	150512094		1926	4138	6064	SO:0001583	missense	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150512094C>T	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.679G>A	5.37:g.150512094C>T	ENSP00000346550:p.Glu227Lys					ANXA6_uc011dcp.1_Missense_Mutation_p.E195K|ANXA6_uc003ltm.1_Missense_Mutation_p.E227K|ANXA6_uc003ltn.1_Intron|ANXA6_uc003lto.1_Intron	p.E227K	NM_001155	NP_001146	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	831	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	227	IE -> MK (in Ref. 2; AAA35656).		Annexin 3.		B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	c.679G>A	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	C	34	5.299348	0.95574	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000356496;ENST00000540153	T;T;T	0.13778	2.56;2.56;2.56	5.31	5.31	0.75309	Annexin repeat, conserved site (1);	0.263482	0.40144	N	0.001162	T	0.37433	0.1003	M	0.80746	2.51	0.80722	D	1	D;D	0.59357	0.985;0.985	P;P	0.60609	0.877;0.877	T	0.22487	-1.0215	10	0.87932	D	0	.	15.8962	0.79336	0.0:1.0:0.0:0.0	.	227;227	A6NN80;P08133	.;ANXA6_HUMAN	K	227;195;227;101	ENSP00000346550:E227K;ENSP00000430517:E195K;ENSP00000348889:E227K	ENSP00000346550:E227K	E	-	1	0	ANXA6	150492287	1.000000	0.71417	0.992000	0.48379	0.950000	0.60333	6.927000	0.75840	2.487000	0.83934	0.650000	0.86243	GAA		0.542	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2		NM_001155		10	26	0	0	0	1	0	10	26		
LARP1	23367	broad.mit.edu	37	5	154181594	154181594	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:154181594C>G	ENST00000336314.4	+	11	1537	c.1513C>G	c.(1513-1515)Ctg>Gtg	p.L505V		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	582					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATTTTCCCACCTGACCTCTCT	0.498																																						uc003lvp.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1744-1746)CTG>GTG		la related protein isoform 2							69.0	69.0	69.0					5																	154181594		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154181594C>G	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1513C>G	5.37:g.154181594C>G	ENSP00000336721:p.Leu505Val					LARP1_uc003lvo.2_Missense_Mutation_p.L505V|LARP1_uc010jie.1_Missense_Mutation_p.L377V	p.L582V	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		11	2173	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	582					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.1744C>G	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	C	3.633	-0.075182	0.07184	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248;ENST00000518742	T;T;T;T	0.41758	1.98;1.57;1.58;0.99	6.02	3.2	0.36748	.	0.702414	0.15425	N	0.262986	T	0.14313	0.0346	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25467	-1.0131	10	0.13470	T	0.59	-0.0229	5.2361	0.15446	0.148:0.6314:0.1428:0.0778	.	582;505	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	V	505;582;377;180	ENSP00000336721:L505V;ENSP00000428589:L582V;ENSP00000429904:L377V;ENSP00000431072:L180V	ENSP00000336721:L505V	L	+	1	2	LARP1	154161787	0.004000	0.15560	0.493000	0.27502	0.337000	0.28794	0.405000	0.21015	0.881000	0.35993	0.655000	0.94253	CTG		0.498	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1		NM_033551		16	62	0	0	0	1	0	16	62		
ATP10B	23120	broad.mit.edu	37	5	159992533	159992533	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:159992533C>G	ENST00000327245.5	-	26	5159	c.4313G>C	c.(4312-4314)aGa>aCa	p.R1438T		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1438					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTCTGTCCTCTTGAGTAGGC	0.537																																						uc003lym.1		NaN																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(4312-4314)AGA>ACA		ATPase, class V, type 10B							142.0	140.0	141.0					5																	159992533		2028	4195	6223	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:159992533C>G	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.4313G>C	5.37:g.159992533C>G	ENSP00000313600:p.Arg1438Thr					ATP10B_uc010jit.1_Missense_Mutation_p.R688T	p.R1438T	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		26	5160	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	1438			Cytoplasmic (Potential).		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.4313G>C	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	6.707	0.499173	0.12762	.	.	ENSG00000118322	ENST00000327245	T	0.41758	0.99	4.73	1.73	0.24493	.	1.176180	0.06034	N	0.653635	T	0.28001	0.0690	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.23154	-1.0196	9	.	.	.	.	6.2887	0.21047	0.0:0.5401:0.3544:0.1055	.	1438	O94823	AT10B_HUMAN	T	1438	ENSP00000313600:R1438T	.	R	-	2	0	ATP10B	159925111	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.073000	0.11468	0.234000	0.21139	0.655000	0.94253	AGA		0.537	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1		NM_025153		47	116	0	0	0	1	0	47	116		
SLIT3	6586	broad.mit.edu	37	5	168175380	168175380	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:168175380C>G	ENST00000519560.1	-	20	2616	c.2197G>C	c.(2197-2199)Gag>Cag	p.E733Q	SLIT3_ENST00000332966.8_Missense_Mutation_p.E733Q|SLIT3_ENST00000404867.3_Missense_Mutation_p.E733Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	733	LRRNT 4.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCACTGTCTCCATACAGGTG	0.632																																					Ovarian(29;311 847 10864 17279 24903)	uc003mab.2		NaN																	0				ovary(3)|skin(1)	4						c.(2197-2199)GAG>CAG		slit homolog 3 precursor							63.0	62.0	62.0					5																	168175380		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168175380C>G	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2197G>C	5.37:g.168175380C>G	ENSP00000430333:p.Glu733Gln					SLIT3_uc010jjg.2_Missense_Mutation_p.E733Q	p.E733Q	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		20	2617	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	733			LRRNT 4.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.2197G>C	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.048940	0.75846	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.96427	-4.01;-4.01;-4.01	5.3	5.3	0.74995	Leucine-rich repeat-containing N-terminal (2);	0.618655	0.18251	N	0.146933	D	0.95614	0.8574	L	0.37850	1.14	0.51012	D	0.999909	B	0.26041	0.14	B	0.40410	0.328	D	0.93595	0.6925	10	0.51188	T	0.08	.	19.0096	0.92868	0.0:1.0:0.0:0.0	.	733	O75094	SLIT3_HUMAN	Q	733	ENSP00000430333:E733Q;ENSP00000332164:E733Q;ENSP00000384890:E733Q	ENSP00000332164:E733Q	E	-	1	0	SLIT3	168107958	1.000000	0.71417	0.998000	0.56505	0.890000	0.51754	7.485000	0.81204	2.483000	0.83821	0.550000	0.68814	GAG		0.632	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4		NM_003062		28	94	0	0	0	1	0	28	94		
SIMC1	375484	broad.mit.edu	37	5	175772332	175772332	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:175772332G>T	ENST00000443967.1	+	12	2910	c.2503G>T	c.(2503-2505)Gag>Tag	p.E835*	SIMC1_ENST00000430704.2_Nonsense_Mutation_p.E420*|KIAA1191_ENST00000393728.2_5'Flank|RP11-843P14.2_ENST00000508187.1_RNA|SIMC1_ENST00000332772.4_Nonsense_Mutation_p.E296*|SIMC1_ENST00000341199.6_Nonsense_Mutation_p.E420*			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	835							SUMO polymer binding (GO:0032184)										GATGCTGGGGGAGCCTCTTGT	0.537																																						uc003mds.3		NaN																	0					0						c.(2503-2505)GAG>TAG		RecName: Full=Uncharacterized protein C5orf25;							72.0	73.0	73.0					5																	175772332		2203	4300	6503	SO:0001587	stop_gained	375484							g.chr5:175772332G>T	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.2503G>T	5.37:g.175772332G>T	ENSP00000406571:p.Glu835*					C5orf25_uc003mdt.3_Nonsense_Mutation_p.E420*|C5orf25_uc003mdr.3_RNA|C5orf25_uc003mdv.2_Nonsense_Mutation_p.E296*	p.E835*			Q8NDZ2	CE025_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)	12	2910	+	all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	835					J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Nonsense_Mutation	SNP	ENST00000443967.1	37	c.2503G>T		.	.	.	.	.	.	.	.	.	.	G	42	9.658723	0.99231	.	.	ENSG00000170085	ENST00000341199;ENST00000430704;ENST00000443967;ENST00000332772	.	.	.	5.44	4.53	0.55603	.	0.179201	0.36101	N	0.002796	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-13.8242	10.7833	0.46390	0.0:0.1396:0.7157:0.1447	.	.	.	.	X	420;420;835;296	.	ENSP00000331311:E296X	E	+	1	0	C5orf25	175704938	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.398000	0.20899	2.831000	0.97527	0.650000	0.86243	GAG		0.537	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2		NM_198567		26	56	1	0	5.45024e-15	1	5.74907e-15	26	56		
SNCB	6620	broad.mit.edu	37	5	176047844	176047844	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:176047844C>T	ENST00000310112.3	-	7	623	c.373G>A	c.(373-375)Gag>Aag	p.E125K	SNCB_ENST00000393693.2_Splice_Site_p.E125K|SNCB_ENST00000506696.1_Splice_Site_p.E125K|SNCB_ENST00000510387.1_Splice_Site_p.E125K	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	125					dopamine metabolic process (GO:0042417)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)|phospholipase inhibitor activity (GO:0004859)			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGATATTCCTCCTGCATCACC	0.622																																						uc003mep.2		NaN																	0				ovary(1)	1						c.(373-375)GAG>AAG		beta-synuclein							41.0	47.0	45.0					5																	176047844		2203	4300	6503	SO:0001630	splice_region_variant	6620						calcium ion binding|phospholipase inhibitor activity	g.chr5:176047844C>T	AF053134	CCDS4406.1	5q35	2008-07-18			ENSG00000074317	ENSG00000074317			11140	protein-coding gene	gene with protein product		602569				7558013, 9806846	Standard	NM_003085		Approved		uc003meq.3	Q16143	OTTHUMG00000130661	ENST00000310112.3:c.373-1G>A	5.37:g.176047844C>T						SNCB_uc003meq.2_Missense_Mutation_p.E125K	p.E125K	NM_001001502	NP_001001502	Q16143	SYUB_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	816	-	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	125					Q6IAX7	Missense_Mutation	SNP	ENST00000310112.3	37	c.373G>A	CCDS4406.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153742	0.57259	.	.	ENSG00000074317	ENST00000310112;ENST00000393693;ENST00000510387;ENST00000506696	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	4.18	3.31	0.37934	.	0.069360	0.56097	D	0.000030	T	0.80727	0.4678	L	0.55990	1.75	0.41705	D	0.989429	B	0.14438	0.01	B	0.08055	0.003	T	0.77469	-0.2576	10	0.62326	D	0.03	-11.708	10.6553	0.45671	0.0:0.9095:0.0:0.0905	.	125	Q16143	SYUB_HUMAN	K	125	ENSP00000308057:E125K;ENSP00000377296:E125K;ENSP00000424073:E125K;ENSP00000422223:E125K	ENSP00000308057:E125K	E	-	1	0	SNCB	175980450	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.972000	0.40540	0.958000	0.37956	0.655000	0.94253	GAG		0.622	SNCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253152.2		NM_001001502	Missense_Mutation	14	54	0	0	0	1	0	14	54		
MGAT1	4245	broad.mit.edu	37	5	180219580	180219580	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:180219580G>A	ENST00000446023.2	-	3	1142	c.392C>T	c.(391-393)tCg>tTg	p.S131L	MGAT1_ENST00000333055.3_Missense_Mutation_p.S131L|MGAT1_ENST00000427865.2_Missense_Mutation_p.S131L|MGAT1_ENST00000307826.4_Missense_Mutation_p.S131L|MGAT1_ENST00000393340.3_Missense_Mutation_p.S131L	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	131					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCTCAGCCGAGGGCCGATA	0.672																																						uc003mmg.3		NaN																	0				ovary(1)	1						c.(391-393)TCG>TTG		mannosyl (alpha-1,3-)-glycoprotein							35.0	34.0	34.0					5																	180219580		2202	4297	6499	SO:0001583	missense	4245				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:180219580G>A	M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.392C>T	5.37:g.180219580G>A	ENSP00000404718:p.Ser131Leu					MGAT1_uc010jlf.2_Missense_Mutation_p.S131L|MGAT1_uc010jlg.2_Missense_Mutation_p.S131L|MGAT1_uc003mmh.3_Missense_Mutation_p.S131L|MGAT1_uc010jlh.2_Missense_Mutation_p.S131L|MGAT1_uc003mmi.3_Missense_Mutation_p.S131L	p.S131L	NM_002406	NP_002397	P26572	MGAT1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	887	-	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	131			Lumenal (Potential).		A8K404|B3KRU8|D3DWR1|Q6IBE3	Missense_Mutation	SNP	ENST00000446023.2	37	c.392C>T	CCDS4458.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060530	0.55432	.	.	ENSG00000131446	ENST00000333055;ENST00000307826;ENST00000446023;ENST00000393340;ENST00000427865;ENST00000504671;ENST00000506889	D;D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02	4.68	3.8	0.43715	.	0.000000	0.64402	D	0.000001	D	0.90752	0.7097	M	0.86097	2.795	0.58432	D	0.999999	D	0.67145	0.996	P	0.61275	0.886	D	0.90906	0.4772	10	0.59425	D	0.04	-9.2109	10.6538	0.45663	0.0964:0.0:0.9036:0.0	.	131	P26572	MGAT1_HUMAN	L	131	ENSP00000332073:S131L;ENSP00000311888:S131L;ENSP00000404718:S131L;ENSP00000377010:S131L;ENSP00000402838:S131L;ENSP00000424891:S131L;ENSP00000425988:S131L	ENSP00000311888:S131L	S	-	2	0	MGAT1	180152186	1.000000	0.71417	0.389000	0.26208	0.155000	0.21991	6.758000	0.74929	2.604000	0.88044	0.462000	0.41574	TCG		0.672	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1		NM_001114618		19	65	0	0	0	1	0	19	65		
IRF4	3662	broad.mit.edu	37	6	397158	397158	+	Silent	SNP	C	C	T	rs558061652		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:397158C>T	ENST00000380956.4	+	5	669	c.543C>T	c.(541-543)taC>taT	p.Y181Y	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	181					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GGAGGGACTACGTCCCGGATC	0.572			T	IGH@	MM								c|||	1	0.000199681	0.0	0.0	5008	,	,		21147	0.0		0.0	False		,,,				2504	0.001					uc003msz.3		NaN		Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM 		0				ovary(1)	1						c.(541-543)TAC>TAT		interferon regulatory factor 4							114.0	117.0	116.0					6																	397158		2203	4300	6503	SO:0001819	synonymous_variant	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:397158C>T	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.543C>T	6.37:g.397158C>T						IRF4_uc010jne.1_Silent_p.Y181Y|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Silent_p.Y180Y|IRF4_uc003mtc.1_Silent_p.Y11Y	p.Y181Y	NM_002460	NP_002451	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	5	656	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	181					Q5VUI7|Q99660	Silent	SNP	ENST00000380956.4	37	c.543C>T	CCDS4469.1																																																																																				0.572	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1				42	179	0	0	0	1	0	42	179		
RPP40	10799	broad.mit.edu	37	6	5002362	5002362	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:5002362C>T	ENST00000380051.2	-	2	285	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	RPP40_ENST00000464646.1_Missense_Mutation_p.E21K|RPP40_ENST00000319533.5_Missense_Mutation_p.E81K	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	81					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)			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)				CTGATGAATTCAGGTGTAATT	0.403																																						uc003mwl.2		NaN																	0					0						c.(241-243)GAA>AAA		ribonuclease P 40kDa subunit							131.0	136.0	134.0					6																	5002362		2203	4300	6503	SO:0001583	missense	10799				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr6:5002362C>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.241G>A	6.37:g.5002362C>T	ENSP00000369391:p.Glu81Lys					uc003mwn.1_5'Flank|RPP40_uc003mwm.2_Missense_Mutation_p.E81K	p.E81K	NM_006638	NP_006629	O75818	RPP40_HUMAN			2	276	-	Ovarian(93;0.11)	all_hematologic(90;0.0895)	81					Q5VX97|Q8WVK8	Missense_Mutation	SNP	ENST00000380051.2	37	c.241G>A	CCDS34333.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352521	0.41700	.	.	ENSG00000124787	ENST00000380051;ENST00000319533;ENST00000464646	T;T;T	0.51325	0.71;0.83;0.71	5.35	4.48	0.54585	.	0.339289	0.36972	N	0.002311	T	0.44498	0.1296	M	0.80183	2.485	0.25354	N	0.988842	P;P	0.52316	0.952;0.936	P;P	0.50082	0.6;0.63	T	0.43426	-0.9392	10	0.56958	D	0.05	-7.3548	11.4103	0.49921	0.0:0.9172:0.0:0.0828	.	81;81	O75818-2;O75818	.;RPP40_HUMAN	K	81;81;21	ENSP00000369391:E81K;ENSP00000317998:E81K;ENSP00000419431:E21K	ENSP00000317998:E81K	E	-	1	0	RPP40	4947361	0.985000	0.35326	0.102000	0.21198	0.025000	0.11179	3.959000	0.56744	1.264000	0.44198	-0.136000	0.14681	GAA		0.403	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039733.2		NM_006638		21	103	0	0	0	1	0	21	103		
F13A1	2162	broad.mit.edu	37	6	6152170	6152170	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:6152170G>A	ENST00000264870.3	-	14	2186	c.1921C>T	c.(1921-1923)Cag>Tag	p.Q641*		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	641					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCAACTACCTGAGTGCCACGG	0.438																																						uc003mwv.2		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6						c.(1921-1923)CAG>TAG		coagulation factor XIII A1 subunit precursor	L-Glutamine(DB00130)						68.0	60.0	63.0					6																	6152170		2203	4300	6503	SO:0001587	stop_gained	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6152170G>A	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1921C>T	6.37:g.6152170G>A	ENSP00000264870:p.Gln641*					F13A1_uc011dib.1_Nonsense_Mutation_p.Q578*	p.Q641*	NM_000129	NP_000120	P00488	F13A_HUMAN			14	2044	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	641					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Nonsense_Mutation	SNP	ENST00000264870.3	37	c.1921C>T	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	G	40	7.929886	0.98565	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	.	.	.	5.37	-8.43	0.00953	.	1.670540	0.03008	N	0.149049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	6.9933	0.24767	0.0733:0.0916:0.1435:0.6916	.	.	.	.	X	641;578	.	ENSP00000264870:Q641X	Q	-	1	0	F13A1	6097169	0.000000	0.05858	0.000000	0.03702	0.950000	0.60333	-0.064000	0.11636	-1.384000	0.02103	-0.284000	0.09977	CAG		0.438	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3		NM_000129		22	23	0	0	0	1	0	22	23		
SSR1	6745	broad.mit.edu	37	6	7303849	7303849	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:7303849C>T	ENST00000244763.4	-	3	300	c.214G>A	c.(214-216)Gat>Aat	p.D72N	SSR1_ENST00000479365.1_Missense_Mutation_p.D72N|SSR1_ENST00000534851.1_Intron|SSR1_ENST00000474597.1_Missense_Mutation_p.D72N|SSR1_ENST00000462112.1_Missense_Mutation_p.D72N|SSR1_ENST00000488834.1_5'UTR|SSR1_ENST00000489567.1_Missense_Mutation_p.D72N|SSR1_ENST00000397511.2_Missense_Mutation_p.D72N	NM_003144.3	NP_003135.2	P43307	SSRA_HUMAN	signal sequence receptor, alpha	72					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|positive regulation of cell proliferation (GO:0008284)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					CCAGACACATCTTCTTCCTCT	0.333																																						uc003mxf.3		NaN																	0					0						c.(214-216)GAT>AAT		signal sequence receptor, alpha precursor							103.0	102.0	102.0					6																	7303849		2203	4300	6503	SO:0001583	missense	6745				cotranslational protein targeting to membrane|positive regulation of cell proliferation	endoplasmic reticulum membrane|integral to membrane	signal sequence binding	g.chr6:7303849C>T		CCDS4499.1	6p24.3	2010-11-24	2008-08-26		ENSG00000124783	ENSG00000124783			11323	protein-coding gene	gene with protein product	"""translocon-associated protein alpha"""	600868					Standard	NM_001292008		Approved	TRAPA	uc003mxf.4	P43307	OTTHUMG00000014202	ENST00000244763.4:c.214G>A	6.37:g.7303849C>T	ENSP00000244763:p.Asp72Asn					SSR1_uc003mxg.3_Missense_Mutation_p.D72N|SSR1_uc010jny.2_Missense_Mutation_p.D72N	p.D72N	NM_003144	NP_003135	P43307	SSRA_HUMAN			3	402	-	Ovarian(93;0.0398)		72			Lumenal (Potential).		A8K685|Q53GX2|Q53H19|Q5TAM3|Q6IB43|Q8NBH9|Q96IA2|Q9TNQ8|Q9UN49	Missense_Mutation	SNP	ENST00000244763.4	37	c.214G>A	CCDS4499.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882868	0.91740	.	.	ENSG00000124783	ENST00000474597;ENST00000244763;ENST00000397511;ENST00000489567;ENST00000479365;ENST00000462112	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	5.82	4.91	0.64330	.	0.299545	0.36034	N	0.002828	T	0.49729	0.1574	L	0.53561	1.675	0.80722	D	1	D;P;D	0.71674	0.998;0.586;0.995	D;B;D	0.69307	0.963;0.303;0.946	T	0.23691	-1.0181	10	0.27082	T	0.32	.	17.696	0.88282	0.0:0.8672:0.1328:0.0	.	72;72;72	C9J5W0;C9JBX5;P43307	.;.;SSRA_HUMAN	N	72	ENSP00000418617:D72N;ENSP00000244763:D72N;ENSP00000380647:D72N;ENSP00000420730:D72N;ENSP00000417911:D72N;ENSP00000417290:D72N	ENSP00000244763:D72N	D	-	1	0	SSR1	7248848	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.293000	0.78740	2.739000	0.93911	0.655000	0.94253	GAT		0.333	SSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039775.2				55	57	0	0	0	1	0	55	57		
BLOC1S5	63915	broad.mit.edu	37	6	8041426	8041426	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:8041426G>A	ENST00000397457.2	-	3	308	c.271C>T	c.(271-273)Ctt>Ttt	p.L91F	BLOC1S5-TXNDC5_ENST00000439343.2_Missense_Mutation_p.L87F|EEF1E1-BLOC1S5_ENST00000397456.2_3'UTR|BLOC1S5_ENST00000543936.1_Missense_Mutation_p.L27F	NM_001199323.1|NM_201280.2	NP_001186252.1|NP_958437.1	Q8TDH9	BL1S5_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 5, muted	91					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to melanosome transport (GO:0035646)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuron projection development (GO:0031175)|otolith morphogenesis (GO:0032474)|positive regulation of pigment cell differentiation (GO:0050942)	BLOC-1 complex (GO:0031083)|transport vesicle (GO:0030133)											CATTTGGGAAGAGTATGTTCA	0.368																																						uc003mxy.2		NaN																	0					0						c.(271-273)CTT>TTT		muted							132.0	129.0	130.0					6																	8041426		2203	4300	6503	SO:0001583	missense	63915					BLOC-1 complex	protein binding	g.chr6:8041426G>A	AF426434	CCDS4506.1, CCDS75394.1	6p25.1-p24.3	2012-08-01	2012-08-01	2012-08-01		ENSG00000188428		"""Biogenesis of lysosomal organelles complex-1 subunits"""	18561	protein-coding gene	gene with protein product		607289	"""muted homolog (mouse)"""	MUTED		11912185	Standard	NM_001199322		Approved	MU, dJ303A1.3		Q8TDH9	OTTHUMG00000014220	ENST00000397457.2:c.271C>T	6.37:g.8041426G>A	ENSP00000380598:p.Leu91Phe					TXNDC5_uc003mxw.2_Silent_p.L7L|MUTED_uc010joc.2_Missense_Mutation_p.L27F|MUTED_uc010job.2_RNA	p.L91F	NM_201280	NP_958437	Q8TDH9	MUTED_HUMAN			3	309	-	Ovarian(93;0.0398)		91					B4DVM2|Q0VDJ6|Q0VDJ7|Q5THS1|Q68D56|Q8N5F9|Q9NU16	Missense_Mutation	SNP	ENST00000397457.2	37	c.271C>T	CCDS4506.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400007	0.83120	.	.	ENSG00000188428	ENST00000397457;ENST00000543936	.	.	.	5.81	4.94	0.65067	.	.	.	.	.	T	0.72301	0.3443	M	0.80183	2.485	0.47037	D	0.999299	D;D	0.64830	0.994;0.973	P;P	0.60886	0.88;0.723	T	0.78437	-0.2204	8	0.72032	D	0.01	.	15.951	0.79840	0.0:0.0:0.8637:0.1363	.	27;91	Q0VDJ6;Q8TDH9	.;MUTED_HUMAN	F	91;27	.	ENSP00000244777:L91F	L	-	1	0	MUTED	7986425	0.998000	0.40836	0.939000	0.37840	0.991000	0.79684	2.740000	0.47418	1.447000	0.47661	0.591000	0.81541	CTT		0.368	BLOC1S5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039797.2		NM_201280		28	77	0	0	0	1	0	28	77		
GCM2	9247	broad.mit.edu	37	6	10874680	10874680	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:10874680G>A	ENST00000379491.4	-	5	1216	c.1069C>T	c.(1069-1071)Cgc>Tgc	p.R357C	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	357					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|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 (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TAATAAGGGCGAGTGGCCATG	0.532																																						uc003mzn.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1069-1071)CGC>TGC		glial cells missing homolog 2							134.0	134.0	134.0					6																	10874680		2203	4300	6503	SO:0001583	missense	9247				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	g.chr6:10874680G>A	AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.1069C>T	6.37:g.10874680G>A	ENSP00000368805:p.Arg357Cys					SYCP2L_uc011dim.1_Intron	p.R357C	NM_004752	NP_004743	O75603	GCM2_HUMAN			5	1141	-	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	357					D3GDV6|Q5THN5	Missense_Mutation	SNP	ENST00000379491.4	37	c.1069C>T	CCDS4517.1	.	.	.	.	.	.	.	.	.	.	G	4.991	0.184000	0.09495	.	.	ENSG00000124827	ENST00000379491	T	0.68025	-0.3	5.6	-4.14	0.03892	.	0.990465	0.08210	N	0.980893	T	0.29652	0.0740	L	0.48642	1.525	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.23368	-1.0190	10	0.54805	T	0.06	6.0934	2.5023	0.04637	0.3768:0.1031:0.4033:0.1168	.	357	O75603	GCM2_HUMAN	C	357	ENSP00000368805:R357C	ENSP00000368805:R357C	R	-	1	0	GCM2	10982666	0.012000	0.17670	0.000000	0.03702	0.011000	0.07611	0.417000	0.21214	-1.123000	0.02940	-0.145000	0.13849	CGC		0.532	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1				89	78	0	0	0	1	0	89	78		
HIVEP1	3096	broad.mit.edu	37	6	12124515	12124515	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:12124515C>G	ENST00000379388.2	+	4	4819	c.4487C>G	c.(4486-4488)tCa>tGa	p.S1496*	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1496					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)			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)				GCAGAAACATCAAACTCCAGC	0.448																																						uc003nac.2		NaN																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(4486-4488)TCA>TGA		human immunodeficiency virus type I enhancer							106.0	100.0	102.0					6																	12124515		1944	4156	6100	SO:0001587	stop_gained	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12124515C>G	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.4487C>G	6.37:g.12124515C>G	ENSP00000368698:p.Ser1496*					HIVEP1_uc011diq.1_RNA	p.S1496*	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	4666	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1496					B2RTU3|Q14122|Q5MPB1|Q5VW60	Nonsense_Mutation	SNP	ENST00000379388.2	37	c.4487C>G	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	44	10.831449	0.99475	.	.	ENSG00000095951	ENST00000379388	.	.	.	6.17	2.49	0.30216	.	0.597181	0.12823	N	0.436312	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.001	5.651	0.17616	0.1571:0.5689:0.0:0.2739	.	.	.	.	X	1496	.	.	S	+	2	0	HIVEP1	12232501	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	1.039000	0.30266	0.498000	0.27948	0.655000	0.94253	TCA		0.448	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2		NM_002114		21	71	0	0	0	1	0	21	71		
KIF13A	63971	broad.mit.edu	37	6	17781078	17781078	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:17781078G>A	ENST00000259711.6	-	31	3834	c.3729C>T	c.(3727-3729)gtC>gtT	p.V1243V	KIF13A_ENST00000378826.2_Silent_p.V1243V|KIF13A_ENST00000378843.2_Silent_p.V1230V|KIF13A_ENST00000378814.5_Silent_p.V1230V|KIF13A_ENST00000378816.5_Silent_p.V1243V	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1243					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCTGTGGTGTGACCCTATTCA	0.448																																						uc003ncg.3		NaN																	0				large_intestine(2)|ovary(2)	4						c.(3727-3729)GTC>GTT		kinesin family member 13A isoform a							130.0	126.0	127.0					6																	17781078		1952	4150	6102	SO:0001819	synonymous_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17781078G>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3729C>T	6.37:g.17781078G>A						KIF13A_uc003ncf.2_Silent_p.V1230V|KIF13A_uc003nch.3_Silent_p.V1243V|KIF13A_uc003nci.3_Silent_p.V1230V|KIF13A_uc003nce.1_5'Flank	p.V1243V	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		31	3834	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1243					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	c.3729C>T	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	9.759	1.169440	0.21621	.	.	ENSG00000137177	ENST00000358380	.	.	.	5.58	3.68	0.42216	.	.	.	.	.	T	0.33556	0.0867	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34875	-0.9811	4	.	.	.	.	3.455	0.07512	0.0847:0.2395:0.4775:0.1983	.	.	.	.	L	637	.	.	S	-	2	0	KIF13A	17889057	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.965000	0.29319	2.797000	0.96272	0.561000	0.74099	TCA		0.448	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4				18	54	0	0	0	1	0	18	54		
DEK	7913	broad.mit.edu	37	6	18249902	18249902	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:18249902C>G	ENST00000397239.3	-	7	1189	c.742G>C	c.(742-744)Gat>Cat	p.D248H	DEK_ENST00000244776.7_Missense_Mutation_p.D214H	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	248	Asp/Glu-rich (acidic).				chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CTTTCTTTATCTTCATCATCT	0.333			T	NUP214	AML																																	uc003ncr.1		NaN		Dom	yes		6	6p23	7913	T	DEK oncogene (DNA binding)			L	NUP214		AML		0				kidney(1)	1						c.(742-744)GAT>CAT		DEK oncogene isoform 1							75.0	69.0	71.0					6																	18249902		2203	4299	6502	SO:0001583	missense	7913				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding	g.chr6:18249902C>G	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.742G>C	6.37:g.18249902C>G	ENSP00000380414:p.Asp248His					DEK_uc011djf.1_Missense_Mutation_p.D214H|DEK_uc011djg.1_RNA	p.D248H	NM_003472	NP_003463	P35659	DEK_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)		7	935	-	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	248			Asp/Glu-rich (acidic).		B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	ENST00000397239.3	37	c.742G>C	CCDS34344.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414973	0.62511	.	.	ENSG00000124795	ENST00000397239;ENST00000244776;ENST00000507591	T;T	0.52754	0.65;0.65	6.17	6.17	0.99709	.	0.536311	0.21976	N	0.066380	T	0.35128	0.0921	L	0.29908	0.895	0.45161	D	0.998174	D;P	0.53151	0.958;0.481	B;B	0.44278	0.445;0.299	T	0.21621	-1.0240	10	0.59425	D	0.04	0.0528	20.8794	0.99867	0.0:1.0:0.0:0.0	.	214;248	B4DN37;P35659	.;DEK_HUMAN	H	248;214;24	ENSP00000380414:D248H;ENSP00000244776:D214H	ENSP00000244776:D214H	D	-	1	0	DEK	18357881	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.322000	0.59215	2.941000	0.99782	0.655000	0.94253	GAT		0.333	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4				7	23	0	0	0	1	0	7	23		
CDKAL1	54901	broad.mit.edu	37	6	21201376	21201376	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:21201376G>C	ENST00000378610.1	+	13	1429	c.1419G>C	c.(1417-1419)aaG>aaC	p.K473N	CDKAL1_ENST00000274695.4_Missense_Mutation_p.K473N|CDKAL1_ENST00000378624.4_Missense_Mutation_p.K382N|CDKAL1_ENST00000476517.1_3'UTR			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	473	TRAM. {ECO:0000255|PROSITE- ProRule:PRU00208}.				maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TCATGGGGAAGATGGTTGAAG	0.393																																						uc003ndc.1		NaN																	0				ovary(2)	2						c.(1417-1419)AAG>AAC		CDK5 regulatory subunit associated protein							120.0	117.0	118.0					6																	21201376		2203	4300	6503	SO:0001583	missense	54901				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	g.chr6:21201376G>C	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.1419G>C	6.37:g.21201376G>C	ENSP00000367873:p.Lys473Asn					CDKAL1_uc003ndd.1_Missense_Mutation_p.K473N|CDKAL1_uc003nde.1_Missense_Mutation_p.K382N|CDKAL1_uc003ndf.1_Intron|CDKAL1_uc003ndg.2_RNA	p.K473N	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)		15	1593	+	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		473			TRAM.		A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Missense_Mutation	SNP	ENST00000378610.1	37	c.1419G>C	CCDS4546.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.280955	0.59758	.	.	ENSG00000145996	ENST00000274695;ENST00000378624;ENST00000378610	T;T;T	0.49432	0.78;0.78;0.78	6.17	1.24	0.21308	Deoxyribonuclease/rho motif-related TRAM (2);	0.000000	0.85682	D	0.000000	T	0.58163	0.2103	M	0.86953	2.85	0.41630	D	0.989016	D;P	0.67145	0.996;0.792	D;B	0.66979	0.948;0.411	T	0.64647	-0.6358	10	0.62326	D	0.03	.	10.6987	0.45913	0.6933:0.0:0.3067:0.0	.	382;473	Q5VV42-2;Q5VV42	.;CDKAL_HUMAN	N	473;382;473	ENSP00000274695:K473N;ENSP00000367889:K382N;ENSP00000367873:K473N	ENSP00000274695:K473N	K	+	3	2	CDKAL1	21309355	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.142000	0.31540	0.197000	0.20387	-0.294000	0.09567	AAG		0.393	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1		NM_017774		31	109	0	0	0	1	0	31	109		
DCDC2	51473	broad.mit.edu	37	6	24175047	24175047	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:24175047G>A	ENST00000378454.3	-	10	1643	c.1342C>T	c.(1342-1344)Caa>Taa	p.Q448*	DCDC2_ENST00000378450.3_Nonsense_Mutation_p.Q201*	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	448					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GGTGGTCTTTGAGGGTCTACA	0.353																																						uc003ndx.2		NaN																	0				ovary(1)	1						c.(1342-1344)CAA>TAA		doublecortin domain containing 2							145.0	128.0	134.0					6																	24175047		2203	4300	6503	SO:0001587	stop_gained	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24175047G>A	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.1342C>T	6.37:g.24175047G>A	ENSP00000367715:p.Gln448*					DCDC2_uc003ndy.2_Nonsense_Mutation_p.Q448*|DCDC2_uc003ndw.2_Nonsense_Mutation_p.Q199*	p.Q448*	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN			10	1644	-		Ovarian(999;0.101)	448					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Nonsense_Mutation	SNP	ENST00000378454.3	37	c.1342C>T	CCDS4550.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903331	0.92035	.	.	ENSG00000146038	ENST00000378454;ENST00000378450	.	.	.	5.67	5.67	0.87782	.	0.322215	0.26474	N	0.024175	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-6.9556	15.2731	0.73720	0.0:0.0:1.0:0.0	.	.	.	.	X	448;201	.	ENSP00000367711:Q201X	Q	-	1	0	DCDC2	24283026	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	1.218000	0.32467	2.677000	0.91161	0.655000	0.94253	CAA		0.353	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1		NM_016356		12	72	0	0	0	1	0	12	72		
HIST1H3B	8358	broad.mit.edu	37	6	26031895	26031895	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:26031895G>C	ENST00000244661.2	-	1	393	c.394C>G	c.(394-396)Cgc>Ggc	p.R132G		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	132					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CTTTCTCCGCGAATGCGGCGA	0.478																																						uc003nfs.1		NaN																	0				ovary(2)	2						c.(394-396)CGC>GGC		histone cluster 1, H3b							62.0	65.0	64.0					6																	26031895		2203	4300	6503	SO:0001583	missense	8358				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26031895G>C	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.394C>G	6.37:g.26031895G>C	ENSP00000244661:p.Arg132Gly						p.R132G	NM_003537	NP_003528	P68431	H31_HUMAN			1	394	-			132					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000244661.2	37	c.394C>G	CCDS4573.1	.	.	.	.	.	.	.	.	.	.	g	14.95	2.688583	0.48097	.	.	ENSG00000124693	ENST00000244661	T	0.70045	-0.45	5.17	5.17	0.71159	.	.	.	.	.	T	0.77384	0.4122	.	.	.	0.47183	D	0.999347	.	.	.	.	.	.	T	0.80491	-0.1359	6	0.87932	D	0	.	18.0207	0.89253	0.0:0.0:1.0:0.0	.	.	.	.	G	132	ENSP00000244661:R132G	ENSP00000244661:R132G	R	-	1	0	HIST1H3B	26139874	1.000000	0.71417	1.000000	0.80357	0.222000	0.24845	9.444000	0.97578	2.545000	0.85829	0.561000	0.74099	CGC		0.478	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1		NM_003537		32	57	0	0	0	1	0	32	57		
HIST1H3C	8352	broad.mit.edu	37	6	26045914	26045914	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:26045914G>A	ENST00000540144.1	+	1	276	c.276G>A	c.(274-276)gcG>gcA	p.A92A	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	92					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						CGGTGATGGCGCTGCAGGAGG	0.582																																						uc003nfv.2		NaN																	0				ovary(1)	1						c.(274-276)GCG>GCA		histone cluster 1, H3c							60.0	57.0	58.0					6																	26045914		2203	4300	6503	SO:0001819	synonymous_variant	8352				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26045914G>A	X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"""Histones / Replication-dependent"""	4768	protein-coding gene	gene with protein product		602812	"""H3 histone family, member C"", ""histone 1, H3c"""	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.276G>A	6.37:g.26045914G>A						HIST1H2BB_uc003nfu.2_5'Flank	p.A92A	NM_003531	NP_003522	P68431	H31_HUMAN			1	276	+			92					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000540144.1	37	c.276G>A	CCDS4576.1																																																																																				0.582	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040078.1		NM_003531		22	80	0	0	0	1	0	22	80		
HIST1H2AE	3012	broad.mit.edu	37	6	26217568	26217568	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:26217568G>C	ENST00000303910.2	+	1	404	c.366G>C	c.(364-366)gaG>gaC	p.E122D	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	122						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				AGAAGACGGAGAGCCACCATA	0.542																																						uc003nha.1		NaN																	0				ovary(1)|skin(1)	2						c.(364-366)GAG>GAC		histone cluster 1, H2ae							52.0	53.0	53.0					6																	26217568		2203	4300	6503	SO:0001583	missense	3012				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26217568G>C	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.366G>C	6.37:g.26217568G>C	ENSP00000303373:p.Glu122Asp					HIST1H2BG_uc003ngz.2_5'Flank	p.E122D	NM_021052	NP_066390	P04908	H2A1B_HUMAN			1	421	+		all_hematologic(11;0.196)	122					P28001|Q76P63	Missense_Mutation	SNP	ENST00000303910.2	37	c.366G>C	CCDS4595.1	.	.	.	.	.	.	.	.	.	.	.	9.571	1.120932	0.20877	.	.	ENSG00000168274	ENST00000303910	T	0.42900	0.96	4.07	3.2	0.36748	.	0.000000	0.34314	U	0.004071	T	0.15435	0.0372	N	0.16862	0.45	0.33544	D	0.595293	.	.	.	.	.	.	T	0.06232	-1.0838	8	0.42905	T	0.14	.	7.9438	0.29974	0.0959:0.1758:0.7283:0.0	.	.	.	.	D	122	ENSP00000303373:E122D	ENSP00000303373:E122D	E	+	3	2	HIST1H2AE	26325547	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	2.914000	0.48797	1.061000	0.40601	-0.142000	0.14014	GAG		0.542	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1		NM_021052		19	59	0	0	0	1	0	19	59		
HIST1H4H	8365	broad.mit.edu	37	6	26285723	26285723	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:26285723G>C	ENST00000377727.1	-	1	14	c.5C>G	c.(4-6)tCt>tGt	p.S2C	HIST1H4H_ENST00000289352.1_Missense_Mutation_p.S2C	NM_003543.3	NP_003534.1	P62805	H4_HUMAN	histone cluster 1, H4h	2					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.S2C(1)		lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						ACCACGGCCAGACATGACTAA	0.473										HNSCC(76;0.23)																												uc003nhm.2		NaN																	1	Substitution - Missense(1)	p.S2C(1)	ovary(1)	ovary(2)	2						c.(4-6)TCT>TGT		histone cluster 1, H4h							61.0	63.0	62.0					6																	26285723		2203	4300	6503	SO:0001583	missense	8365				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26285723G>C	X60487	CCDS4604.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158406	ENSG00000158406		"""Histones / Replication-dependent"""	4788	protein-coding gene	gene with protein product		602828	"""H4 histone family, member H"", ""histone 1, H4h"""	H4FH		9119399, 12408966	Standard	NM_003543		Approved	H4/h	uc003nhm.2	P62805	OTTHUMG00000014454	ENST00000377727.1:c.5C>G	6.37:g.26285723G>C	ENSP00000366956:p.Ser2Cys	HNSCC(76;0.23)				HIST1H4H_uc003nhl.1_RNA	p.S2C	NM_003543	NP_003534	P62805	H4_HUMAN			1	5	-			2					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377727.1	37	c.5C>G	CCDS4604.1	.	.	.	.	.	.	.	.	.	.	.	12.92	2.081418	0.36758	.	.	ENSG00000158406	ENST00000289352;ENST00000377727	.	.	.	4.4	4.4	0.53042	.	0.284296	0.23252	U	0.050228	T	0.51736	0.1692	.	.	.	0.30514	N	0.769126	.	.	.	.	.	.	T	0.54490	-0.8286	6	0.87932	D	0	.	14.8602	0.70376	0.0:0.0:1.0:0.0	.	.	.	.	C	2	.	ENSP00000289352:S2C	S	-	2	0	HIST1H4H	26393702	1.000000	0.71417	1.000000	0.80357	0.160000	0.22226	7.493000	0.81493	2.181000	0.69327	0.491000	0.48974	TCT		0.473	HIST1H4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040119.1		NM_003543		17	71	0	0	0	1	0	17	71		
BTN2A1	11120	broad.mit.edu	37	6	26465586	26465586	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:26465586G>A	ENST00000312541.5	+	5	1134	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	BTN2A1_ENST00000541522.1_Missense_Mutation_p.E235K|BTN2A1_ENST00000469185.1_Missense_Mutation_p.E296K|BTN2A1_ENST00000429381.1_Missense_Mutation_p.E296K	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	296					lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				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						TGCTCTAAAGGAACTGGAGAA	0.423																																						uc003nib.1		NaN																	0				ovary(1)|skin(1)	2						c.(886-888)GAA>AAA		butyrophilin, subfamily 2, member A1 isoform 1							104.0	101.0	102.0					6																	26465586		2203	4300	6503	SO:0001583	missense	11120				lipid metabolic process	integral to plasma membrane		g.chr6:26465586G>A	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.886G>A	6.37:g.26465586G>A	ENSP00000312158:p.Glu296Lys					BTN2A1_uc003nic.1_Missense_Mutation_p.E296K|BTN2A1_uc003nid.1_Missense_Mutation_p.E144K|BTN2A1_uc011dko.1_Missense_Mutation_p.E235K|BTN2A1_uc010jqk.1_Missense_Mutation_p.E56K	p.E296K	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN			5	1098	+			296			Cytoplasmic (Potential).		B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Missense_Mutation	SNP	ENST00000312541.5	37	c.886G>A	CCDS4613.1	.	.	.	.	.	.	.	.	.	.	G	9.357	1.067066	0.20067	.	.	ENSG00000112763	ENST00000312541;ENST00000541522;ENST00000429381;ENST00000265424;ENST00000469185	T;T;T;T	0.76186	-0.47;1.11;-1.0;-0.99	3.78	0.939	0.19506	.	.	.	.	.	T	0.37489	0.1005	L	0.42245	1.32	0.09310	N	1	B;B;B	0.17038	0.02;0.006;0.001	B;B;B	0.14578	0.011;0.003;0.001	T	0.20773	-1.0265	9	0.13470	T	0.59	.	5.3233	0.15893	0.3777:0.0:0.6223:0.0	.	235;296;296	B4DLP9;Q96AV7;Q7KYR7	.;.;BT2A1_HUMAN	K	296;235;296;282;296	ENSP00000312158:E296K;ENSP00000443909:E235K;ENSP00000416945:E296K;ENSP00000419043:E296K	ENSP00000265424:E282K	E	+	1	0	BTN2A1	26573565	0.796000	0.28864	0.096000	0.21009	0.016000	0.09150	0.327000	0.19663	0.339000	0.23719	0.455000	0.32223	GAA		0.423	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2		NM_007049		58	69	0	0	0	1	0	58	69		
ZNF184	7738	broad.mit.edu	37	6	27420524	27420524	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:27420524G>C	ENST00000211936.6	-	6	1098	c.814C>G	c.(814-816)Cat>Gat	p.H272D	ZNF184_ENST00000377419.1_Missense_Mutation_p.H272D	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	272					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCTCCAGTATGAATTCTTTGA	0.378																																						uc003njj.2		NaN																	0				ovary(1)	1						c.(814-816)CAT>GAT		zinc finger protein 184							95.0	100.0	99.0					6																	27420524		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420524G>C	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.814C>G	6.37:g.27420524G>C	ENSP00000211936:p.His272Asp					ZNF184_uc010jqv.2_Missense_Mutation_p.H272D|ZNF184_uc003nji.2_Missense_Mutation_p.H272D	p.H272D	NM_007149	NP_009080	Q99676	ZN184_HUMAN			5	1625	-			272			C2H2-type 2.		B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.814C>G	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170922	0.57584	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	D;D	0.88975	-2.45;-2.45	4.99	4.99	0.66335	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000157	D	0.94072	0.8100	M	0.89715	3.055	0.43852	D	0.996449	D	0.71674	0.998	D	0.73708	0.981	D	0.94590	0.7787	10	0.87932	D	0	.	11.4795	0.50318	0.0:0.1814:0.8186:0.0	.	272	Q99676	ZN184_HUMAN	D	272	ENSP00000211936:H272D;ENSP00000366636:H272D	ENSP00000211936:H272D	H	-	1	0	ZNF184	27528503	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.362000	0.97126	2.591000	0.87537	0.455000	0.32223	CAT		0.378	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1		NM_007149		17	85	0	0	0	1	0	17	85		
HIST1H4L	8368	broad.mit.edu	37	6	27840978	27840978	+	Nonstop_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:27840978C>A	ENST00000355981.2	-	1	311	c.311G>T	c.(310-312)tGa>tTa	p.*104L	HIST1H3I_ENST00000328488.2_5'Flank	NM_003546.2	NP_003537.1	P62805	H4_HUMAN	histone cluster 1, H4l	0					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						GTAAAACACTCAGCCGCCAAA	0.512																																						uc003njz.2		NaN																	0				ovary(1)|breast(1)	2						c.(310-312)TGA>TTA		histone cluster 1, H4l							55.0	54.0	54.0					6																	27840978		2203	4300	6503	SO:0001578	stop_lost	8368				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27840978C>A	X83548	CCDS4637.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198558	ENSG00000275126		"""Histones / Replication-dependent"""	4791	protein-coding gene	gene with protein product		602831	"""H4 histone family, member K"", ""histone 1, H4l"""	H4FK		9031620, 9439656, 12408966	Standard	NM_003546		Approved	H4.k, H4/k	uc003njz.3	P62805	OTTHUMG00000016211	ENST00000355981.2:c.311G>T	6.37:g.27840978C>A						HIST1H3I_uc003njy.2_5'Flank	p.*104L	NM_003546	NP_003537	P62805	H4_HUMAN			1	312	-			104					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Nonstop_Mutation	SNP	ENST00000355981.2	37	c.311G>T	CCDS4637.1	.	.	.	.	.	.	.	.	.	.	c	4.806	0.149857	0.09185	.	.	ENSG00000198558	ENST00000355981	.	.	.	4.24	-4.13	0.03904	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7931	0.52080	0.0:0.5487:0.0:0.4513	.	.	.	.	L	104	.	.	X	-	2	2	HIST1H4L	27948957	0.749000	0.28305	0.012000	0.15200	0.008000	0.06430	0.542000	0.23222	-0.792000	0.04480	-0.394000	0.06481	TGA		0.512	HIST1H4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043513.1		NM_003546		9	57	1	0	2.17888e-05	1	2.22085e-05	9	57		
C6orf136	221545	broad.mit.edu	37	6	30619214	30619214	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:30619214C>T	ENST00000376473.5	+	4	894	c.735C>T	c.(733-735)ttC>ttT	p.F245F	C6orf136_ENST00000376471.4_Silent_p.F111F|AL662800.2_ENST00000583820.1_RNA|C6orf136_ENST00000528347.2_Silent_p.F102F|C6orf136_ENST00000293604.6_Silent_p.F426F	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	245						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TTTTGCGGTTCTACAAGCGTG	0.498																																						uc003nqw.3		NaN																	0					0						c.(733-735)TTC>TTT		hypothetical protein LOC221545 isoform 1							121.0	138.0	132.0					6																	30619214		2203	4300	6503	SO:0001819	synonymous_variant	221545							g.chr6:30619214C>T	BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221	ENST00000376473.5:c.735C>T	6.37:g.30619214C>T						C6orf136_uc003nqx.3_Silent_p.F426F|C6orf136_uc011dmn.1_Silent_p.F111F	p.F245F	NM_001109938	NP_001103408	Q5SQH8	CF136_HUMAN			4	928	+			245					A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Silent	SNP	ENST00000376473.5	37	c.735C>T	CCDS43443.1																																																																																				0.498	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076457.4		NM_145029		103	366	0	0	0	1	0	103	366		
TNF	7124	broad.mit.edu	37	6	31544355	31544355	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:31544355C>T	ENST00000449264.2	+	2	406	c.231C>T	c.(229-231)gtC>gtT	p.V77V		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	77		Cleavage; by ADAM17.			activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nicotine (GO:0071316)|cellular response to organic cyclic compound (GO:0071407)|chronic inflammatory response to antigenic stimulus (GO:0002439)|defense response to Gram-positive bacterium (GO:0050830)|embryonic digestive tract development (GO:0048566)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glucose metabolic process (GO:0006006)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JNK cascade (GO:0007254)|leukocyte tethering or rolling (GO:0050901)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|necroptotic signaling pathway (GO:0097527)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of branching involved in lung morphogenesis (GO:0061048)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of glucose import (GO:0046325)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of L-glutamate transport (GO:0002037)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid storage (GO:0010888)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|organ morphogenesis (GO:0009887)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle development (GO:0051798)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of mononuclear cell migration (GO:0071677)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of podosome assembly (GO:0071803)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein transport (GO:0051222)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translational initiation by iron (GO:0045994)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|receptor biosynthetic process (GO:0032800)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of immunoglobulin secretion (GO:0051023)|regulation of insulin secretion (GO:0050796)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to salt stress (GO:0009651)|response to virus (GO:0009615)|sequestering of triglyceride (GO:0030730)|skeletal muscle contraction (GO:0003009)|transformed cell apoptotic process (GO:0006927)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	cytokine activity (GO:0005125)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|transcription regulatory region DNA binding (GO:0044212)|tumor necrosis factor receptor binding (GO:0005164)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Amrinone(DB01427)|Certolizumab pegol(DB08904)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Epinephrine(DB00668)|Etanercept(DB00005)|Glucosamine(DB01296)|golimumab(DB06674)|Infliximab(DB00065)|Pomalidomide(DB08910)|Pranlukast(DB01411)|Pseudoephedrine(DB00852)|Thalidomide(DB01041)	CCCAGGCAGTCAGTAAGTGTC	0.502									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													uc003nui.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(229-231)GTC>GTT		tumor necrosis factor alpha	Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)						106.0	102.0	104.0					6																	31544355		2203	4300	6503	SO:0001630	splice_region_variant	7124	Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding	g.chr6:31544355C>T	X02910	CCDS4702.1	6p21.3	2013-05-22	2010-05-04		ENSG00000232810	ENSG00000232810		"""Tumor necrosis factor (ligand) superfamily"""	11892	protein-coding gene	gene with protein product	"""TNF superfamily, member 2"""	191160	"""tumor necrosis factor (TNF superfamily, member 2)"""	TNFA		2413547, 6392892	Standard	NM_000594		Approved	TNFSF2, DIF, TNF-alpha	uc003nui.4	P01375	OTTHUMG00000031194	ENST00000449264.2:c.232+1C>T	6.37:g.31544355C>T						TNF_uc003nuj.2_5'UTR	p.V77V	NM_000594	NP_000585	P01375	TNFA_HUMAN			2	400	+		Ovarian(999;0.00556)	77			Extracellular (Potential).	Cleavage; by ADAM17.	O43647|Q9P1Q2|Q9UIV3	Silent	SNP	ENST00000449264.2	37	c.231C>T	CCDS4702.1																																																																																				0.502	TNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076390.2			Silent	38	112	0	0	0	1	0	38	112		
TNXB	7148	broad.mit.edu	37	6	32010104	32010104	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:32010104G>A	ENST00000375244.3	-	41	12447	c.12246C>T	c.(12244-12246)ttC>ttT	p.F4082F	TNXB_ENST00000451343.1_Silent_p.F511F|TNXB_ENST00000375247.2_Silent_p.F4080F			P22105	TENX_HUMAN	tenascin XB	4127	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGTCCCTCCAGAAGTCTGTCT	0.612																																						uc003nzl.2		NaN																	0					0						c.(12238-12240)TTC>TTT		tenascin XB isoform 1 precursor							21.0	25.0	24.0					6																	32010104		2190	4272	6462	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32010104G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.12246C>T	6.37:g.32010104G>A						TNXB_uc003nzg.1_Silent_p.F511F|TNXB_uc003nzh.1_Silent_p.F549F	p.F4080F	NM_019105	NP_061978	P22105	TENX_HUMAN			41	12442	-			4127			Fibrinogen C-terminal.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.12240C>T																																																																																					0.612	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2		NM_019105		9	45	0	0	0	1	0	9	45		
TNXB	7148	broad.mit.edu	37	6	32021477	32021477	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:32021477C>T	ENST00000375244.3	-	25	8680	c.8479G>A	c.(8479-8481)Gaa>Aaa	p.E2827K	TNXB_ENST00000375247.2_Missense_Mutation_p.E2825K			P22105	TENX_HUMAN	tenascin XB	2885	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTCTCTGCTTCATCCTCTGGA	0.587																																						uc003nzl.2		NaN																	0					0						c.(8473-8475)GAA>AAA		tenascin XB isoform 1 precursor							69.0	82.0	77.0					6																	32021477		1381	2626	4007	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32021477C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8479G>A	6.37:g.32021477C>T	ENSP00000364393:p.Glu2827Lys						p.E2825K	NM_019105	NP_061978	P22105	TENX_HUMAN			25	8675	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.8473G>A		.	.	.	.	.	.	.	.	.	.	c	12.06	1.824989	0.32237	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56103	0.63;0.48	4.28	1.36	0.22044	.	.	.	.	.	T	0.18923	0.0454	L	0.53561	1.675	0.09310	N	1	P	0.39940	0.696	B	0.41412	0.356	T	0.29640	-1.0005	9	0.05833	T	0.94	.	4.6059	0.12378	0.0:0.6078:0.1805:0.2117	.	2825	P22105-3	.	K	2827;2825	ENSP00000364393:E2827K;ENSP00000364396:E2825K	ENSP00000364393:E2827K	E	-	1	0	TNXB	32129455	0.672000	0.27530	0.000000	0.03702	0.049000	0.14656	3.834000	0.55798	-0.043000	0.13513	0.536000	0.68110	GAA		0.587	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2		NM_019105		16	62	0	0	0	1	0	16	62		
NOTCH4	4855	broad.mit.edu	37	6	32170230	32170230	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:32170230C>T	ENST00000375023.3	-	21	3516	c.3378G>A	c.(3376-3378)ctG>ctA	p.L1126L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1126	EGF-like 28. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTGGTGGGGTCAGGCAGTCAG	0.642																																						uc003obb.2		NaN																	0				lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(3376-3378)CTG>CTA		notch4 preproprotein							16.0	17.0	17.0					6																	32170230		1504	2704	4208	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32170230C>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3378G>A	6.37:g.32170230C>T						NOTCH4_uc003oba.2_5'UTR|NOTCH4_uc011dpu.1_Intron|NOTCH4_uc011dpv.1_Intron	p.L1126L	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			21	3517	-			1126			EGF-like 28.|Extracellular (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.3378G>A	CCDS34420.1																																																																																				0.642	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2				5	32	0	0	0	1	0	5	32		
HLA-DQA2	3118	broad.mit.edu	37	6	32713004	32713004	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:32713004G>A	ENST00000374940.3	+	2	253	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	51	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	GTACACCCATGAATTTGATGG	0.502																																						uc003obx.2		NaN																	0					0						c.(151-153)GAA>AAA		major histocompatibility complex, class II, DQ	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						196.0	192.0	193.0					6																	32713004		1511	2709	4220	SO:0001583	missense	3118				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32713004G>A		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.151G>A	6.37:g.32713004G>A	ENSP00000364076:p.Glu51Lys						p.E51K	NM_020056	NP_064440	P01906	DQA2_HUMAN			2	209	+			51			Extracellular (Potential).|Alpha-1.		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	ENST00000374940.3	37	c.151G>A	CCDS4753.1	.	.	.	.	.	.	.	.	.	.	.	14.93	2.681115	0.47886	.	.	ENSG00000237541	ENST00000374940	T	0.00856	5.61	3.2	3.2	0.36748	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	0.134780	0.49305	U	0.000143	T	0.04497	0.0123	H	0.97659	4.05	0.30039	N	0.812784	D	0.67145	0.996	D	0.69824	0.966	T	0.05699	-1.0869	10	0.87932	D	0	.	10.0095	0.41977	0.0:0.0:1.0:0.0	.	51	P01906	DQA2_HUMAN	K	51	ENSP00000364076:E51K	ENSP00000364076:E51K	E	+	1	0	HLA-DQA2	32820982	0.998000	0.40836	0.957000	0.39632	0.051000	0.14879	3.888000	0.56204	1.773000	0.52216	0.390000	0.25778	GAA		0.502	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2		NM_020056		46	143	0	0	0	1	0	46	143		
COL11A2	1302	broad.mit.edu	37	6	33135226	33135226	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:33135226G>A	ENST00000374708.4	-	54	4099	c.3841C>T	c.(3841-3843)Ctg>Ttg	p.L1281L	COL11A2_ENST00000374713.1_Silent_p.L1320L|COL11A2_ENST00000361917.1_Silent_p.L1260L|COL11A2_ENST00000357486.1_Silent_p.L1346L|COL11A2_ENST00000341947.2_Silent_p.L1367L|COL11A2_ENST00000374714.1_Silent_p.L1341L|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Silent_p.L1286L|COL11A2_ENST00000395197.1_Silent_p.L1307L	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1367	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						AGCCCCCTCAGACCATCAGGG	0.662																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1		NaN																	0				ovary(3)|skin(2)	5						c.(4099-4101)CTG>TTG		collagen, type XI, alpha 2 isoform 1							31.0	30.0	31.0					6																	33135226		1508	2709	4217	SO:0001819	synonymous_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33135226G>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.3841C>T	6.37:g.33135226G>A						COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.L1281L|COL11A2_uc003ocz.1_Silent_p.L1260L	p.L1367L	NM_080680	NP_542411	P13942	COBA2_HUMAN			56	4327	-			1367			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP	ENST00000374708.4	37	c.4099C>T	CCDS43452.1																																																																																				0.662	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2				20	53	0	0	0	1	0	20	53		
COL11A2	1302	broad.mit.edu	37	6	33154506	33154506	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:33154506C>T	ENST00000374708.4	-	5	954	c.696G>A	c.(694-696)caG>caA	p.Q232Q	COL11A2_ENST00000374713.1_Silent_p.Q232Q|COL11A2_ENST00000395194.1_Silent_p.Q232Q|COL11A2_ENST00000361917.1_Silent_p.Q232Q|COL11A2_ENST00000357486.1_Silent_p.Q232Q|COL11A2_ENST00000341947.2_Silent_p.Q232Q|COL11A2_ENST00000374714.1_Silent_p.Q232Q|COL11A2_ENST00000374712.1_Silent_p.Q232Q|COL11A2_ENST00000395197.1_Silent_p.Q232Q	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	232	Nonhelical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GTCTTTCCCTCTGGCCCCCCT	0.562																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1		NaN																	0				ovary(3)|skin(2)	5						c.(694-696)CAG>CAA		collagen, type XI, alpha 2 isoform 1							231.0	211.0	218.0					6																	33154506		2203	4300	6503	SO:0001819	synonymous_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33154506C>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.696G>A	6.37:g.33154506C>T						COL11A2_uc003ocy.1_Silent_p.Q232Q|COL11A2_uc003ocz.1_Silent_p.Q232Q|COL11A2_uc003oda.2_Silent_p.Q232Q	p.Q232Q	NM_080680	NP_542411	P13942	COBA2_HUMAN			5	924	-			232			Nonhelical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP	ENST00000374708.4	37	c.696G>A	CCDS43452.1																																																																																				0.562	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2				36	122	0	0	0	1	0	36	122		
RXRB	6257	broad.mit.edu	37	6	33165597	33165597	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:33165597C>T	ENST00000374680.3	-	4	973	c.762G>A	c.(760-762)cgG>cgA	p.R254R	RXRB_ENST00000374685.4_Silent_p.R254R|RNY4P10_ENST00000365571.1_RNA|RXRB_ENST00000544186.1_Silent_p.R64R|RXRB_ENST00000413614.2_Silent_p.R158R	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	254					cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	GACAGCGGTTCCGCTGGCGCT	0.582																																						uc003odb.2		NaN																	0				ovary(3)	3						c.(760-762)CGG>CGA		retinoid X receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						76.0	65.0	69.0					6																	33165597		1511	2709	4220	SO:0001819	synonymous_variant	6257				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr6:33165597C>T	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.762G>A	6.37:g.33165597C>T						RXRB_uc003odc.2_Silent_p.R254R|RXRB_uc003odd.2_Silent_p.R158R|RXRB_uc011dqr.1_Silent_p.R64R|RXRB_uc011dqs.1_Silent_p.R137R|RXRB_uc003ode.1_Silent_p.R118R|RXRB_uc011dqt.1_Silent_p.R254R|RXRB_uc011dqu.1_Silent_p.R158R	p.R254R	NM_021976	NP_068811	P28702	RXRB_HUMAN			4	941	-			254			NR C4-type.|Nuclear receptor.		P28703|Q59G65|Q5JP92|Q5STQ1	Silent	SNP	ENST00000374680.3	37	c.762G>A	CCDS4768.1																																																																																				0.582	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2		NM_021976		9	48	0	0	0	1	0	9	48		
HSD17B8	7923	broad.mit.edu	37	6	33173242	33173242	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:33173242C>G	ENST00000374662.3	+	4	433	c.406C>G	c.(406-408)Cag>Gag	p.Q136E	MIR219-1_ENST00000362166.1_RNA|HSD17B8_ENST00000469186.1_3'UTR	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	136					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|fatty acid biosynthetic process (GO:0006633)	mitochondrial envelope (GO:0005740)|mitochondrial matrix (GO:0005759)|plasma membrane (GO:0005886)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9						CCTAGTCACTCAGGCTGCAGC	0.572																																						uc003odi.1		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(406-408)CAG>GAG		estradiol 17 beta-dehydrogenase 8	NADH(DB00157)						166.0	158.0	161.0					6																	33173242		1510	2709	4219	SO:0001583	missense	7923				estrogen biosynthetic process|fatty acid biosynthetic process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr6:33173242C>G	D82061	CCDS4769.1	6p21.3	2011-09-14	2002-02-19	2002-02-22	ENSG00000204228	ENSG00000204228	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	3554	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 30C, member 1"""	601417	"""FabG (beta-ketoacyl-[acyl-carrier-protein] reductase, E coli) like (E. coli)"""	FABGL		8812499, 19027726	Standard	NM_014234		Approved	HKE6, D6S2245E, RING2, KE6, H2-KE6, SDR30C1	uc003odi.2	Q92506	OTTHUMG00000031117	ENST00000374662.3:c.406C>G	6.37:g.33173242C>G	ENSP00000363794:p.Gln136Glu					uc003odj.1_5'Flank|MIR219-1_hsa-mir-219-1|MI0000296_5'Flank	p.Q136E	NM_014234	NP_055049	Q92506	DHB8_HUMAN			4	433	+			136					A6NLX7|Q5STP7|Q9UIQ1	Missense_Mutation	SNP	ENST00000374662.3	37	c.406C>G	CCDS4769.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247535	0.80024	.	.	ENSG00000204228	ENST00000374662	T	0.25749	1.78	4.52	4.52	0.55395	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.39253	0.1071	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.28744	-1.0034	10	0.87932	D	0	.	12.6122	0.56558	0.0:1.0:0.0:0.0	.	136	Q92506	DHB8_HUMAN	E	136	ENSP00000363794:Q136E	ENSP00000363794:Q136E	Q	+	1	0	HSD17B8	33281220	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.725000	0.68507	2.349000	0.79799	0.643000	0.83706	CAG		0.572	HSD17B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076196.1		NM_014234		29	104	0	0	0	1	0	29	104		
KIF6	221458	broad.mit.edu	37	6	39513460	39513460	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:39513460C>G	ENST00000287152.7	-	11	1280	c.1186G>C	c.(1186-1188)Gaa>Caa	p.E396Q	KIF6_ENST00000373215.3_Missense_Mutation_p.E396Q|KIF6_ENST00000373213.4_Missense_Mutation_p.E235Q|KIF6_ENST00000538893.1_Missense_Mutation_p.E396Q|KIF6_ENST00000373216.3_Missense_Mutation_p.E396Q	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	396					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATTAGTTTTTCCAGCCTAAAA	0.338																																						uc003oot.2		NaN																	0				breast(2)|central_nervous_system(1)	3						c.(1186-1188)GAA>CAA		kinesin family member 6							96.0	95.0	95.0					6																	39513460		2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39513460C>G	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1186G>C	6.37:g.39513460C>G	ENSP00000287152:p.Glu396Gln					KIF6_uc010jxa.1_Missense_Mutation_p.E187Q|KIF6_uc011dua.1_Missense_Mutation_p.E396Q|KIF6_uc010jxb.1_Missense_Mutation_p.E396Q	p.E396Q	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN			11	1281	-			396					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.1186G>C	CCDS4844.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.11|14.11	2.438016|2.438016	0.43326|0.43326	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893|ENST00000458470	T;T;T;T;T|.	0.72505|.	-0.59;-0.6;-0.45;-0.59;-0.66|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|.	.|.	.|.	.|.	T|T	0.50667|0.50667	0.1629|0.1629	L|L	0.45137|0.45137	1.4|1.4	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.32350|.	0.36;0.054;0.12;0.366|.	B;B;B;B|.	0.37267|.	0.245;0.061;0.143;0.164|.	T|T	0.47222|0.47222	-0.9134|-0.9134	9|5	0.27082|.	T|.	0.32|.	.|.	14.7721|14.7721	0.69688|0.69688	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	396;396;396;396|.	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9|.	.;.;.;KIF6_HUMAN|.	Q|C	396;396;235;396;396|287	ENSP00000287152:E396Q;ENSP00000362312:E396Q;ENSP00000362309:E235Q;ENSP00000362311:E396Q;ENSP00000441435:E396Q|.	ENSP00000287152:E396Q|.	E|W	-|-	1|3	0|0	KIF6|KIF6	39621438|39621438	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	2.654000|2.654000	0.46699|0.46699	2.549000|2.549000	0.85964|0.85964	0.561000|0.561000	0.74099|0.74099	GAA|TGG		0.338	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2		NM_145027		14	41	0	0	0	1	0	14	41		
PGC	5225	broad.mit.edu	37	6	41707611	41707611	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:41707611G>C	ENST00000373025.3	-	7	903	c.841C>G	c.(841-843)Ctg>Gtg	p.L281V		NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	281					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			ACAGTGAGCAGAGAGGTGCCT	0.612																																						uc003ora.1		NaN																	0					0						c.(841-843)CTG>GTG		progastricsin (pepsinogen C) precursor							94.0	88.0	90.0					6																	41707611		2203	4300	6503	SO:0001583	missense	5225				digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	g.chr6:41707611G>C		CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.841C>G	6.37:g.41707611G>C	ENSP00000362116:p.Leu281Val						p.L281V	NM_002630	NP_002621	P20142	PEPC_HUMAN	Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		7	890	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		281					B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	ENST00000373025.3	37	c.841C>G	CCDS4859.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982904	0.34942	.	.	ENSG00000096088	ENST00000373025	T	0.62639	0.01	5.14	4.28	0.50868	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.305040	0.28635	N	0.014647	T	0.60235	0.2253	M	0.91140	3.18	0.80722	D	1	B	0.31859	0.343	B	0.33295	0.161	T	0.69935	-0.5010	10	0.66056	D	0.02	.	13.5053	0.61481	0.0755:0.0:0.9245:0.0	.	281	P20142	PEPC_HUMAN	V	281	ENSP00000362116:L281V	ENSP00000362116:L281V	L	-	1	2	PGC	41815589	0.997000	0.39634	1.000000	0.80357	0.355000	0.29361	3.038000	0.49783	1.418000	0.47098	0.555000	0.69702	CTG		0.612	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2				35	87	0	0	0	1	0	35	87		
PEX6	5190	broad.mit.edu	37	6	42936706	42936706	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:42936706C>T	ENST00000304611.8	-	6	1454	c.1385G>A	c.(1384-1386)gGa>gAa	p.G462E	PEX6_ENST00000244546.4_Missense_Mutation_p.G462E	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	462					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|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;0.0562)			ACTGCTAGTTCCTGTCAGCAG	0.537																																						uc003otf.2		NaN																	0				ovary(1)	1						c.(1384-1386)GGA>GAA		peroxisomal biogenesis factor 6							66.0	62.0	64.0					6																	42936706		2203	4300	6503	SO:0001583	missense	5190				protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr6:42936706C>T	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.1385G>A	6.37:g.42936706C>T	ENSP00000303511:p.Gly462Glu					PEX6_uc010jya.2_RNA	p.G462E	NM_000287	NP_000278	Q13608	PEX6_HUMAN	all cancers(41;0.00235)|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;0.0562)		6	1478	-			462					Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	ENST00000304611.8	37	c.1385G>A	CCDS4877.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959659	0.53400	.	.	ENSG00000124587	ENST00000304611;ENST00000244546	T;T	0.78003	-1.14;-1.14	5.37	5.37	0.77165	ATPase, AAA+ type, core (1);	0.345891	0.34133	N	0.004236	T	0.55625	0.1932	N	0.19112	0.55	0.43351	D	0.995418	B	0.21905	0.062	B	0.17433	0.018	T	0.59220	-0.7495	10	0.72032	D	0.01	-5.7564	16.1333	0.81461	0.0:1.0:0.0:0.0	.	462	Q13608	PEX6_HUMAN	E	462	ENSP00000303511:G462E;ENSP00000244546:G462E	ENSP00000244546:G462E	G	-	2	0	PEX6	43044684	0.859000	0.29813	0.988000	0.46212	0.975000	0.68041	2.405000	0.44548	2.793000	0.96121	0.655000	0.94253	GGA		0.537	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1		NM_000287		23	73	0	0	0	1	0	23	73		
RRP36	88745	broad.mit.edu	37	6	42995194	42995194	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:42995194C>T	ENST00000244496.5	+	6	632	c.622C>T	c.(622-624)Cgg>Tgg	p.R208W		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	208					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						GCAGGGCCATCGGCCATACTT	0.572																																						uc003otp.1		NaN																	0					0						c.(622-624)CGG>TGG		hypothetical protein LOC88745							62.0	61.0	61.0					6																	42995194		2203	4300	6503	SO:0001583	missense	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42995194C>T	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.622C>T	6.37:g.42995194C>T	ENSP00000244496:p.Arg208Trp						p.R208W	NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		6	630	+			208					Q9BRF6|Q9P0C8	Missense_Mutation	SNP	ENST00000244496.5	37	c.622C>T	CCDS34453.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613146	0.46631	.	.	ENSG00000124541	ENST00000244496	T	0.48201	0.82	5.26	3.32	0.38043	.	0.089313	0.42294	D	0.000726	T	0.50990	0.1648	L	0.52905	1.665	0.35967	D	0.834998	D	0.89917	1.0	D	0.75484	0.986	T	0.58612	-0.7606	10	0.87932	D	0	.	11.2901	0.49245	0.4643:0.5357:0.0:0.0	.	208	Q96EU6	RRP36_HUMAN	W	208	ENSP00000244496:R208W	ENSP00000244496:R208W	R	+	1	2	RRP36	43103172	1.000000	0.71417	1.000000	0.80357	0.169000	0.22640	1.991000	0.40727	1.327000	0.45338	0.563000	0.77884	CGG		0.572	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1		NM_033112		29	76	0	0	0	1	0	29	76		
ABCC10	89845	broad.mit.edu	37	6	43415550	43415550	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:43415550C>T	ENST00000372530.4	+	18	4049	c.3834C>T	c.(3832-3834)atC>atT	p.I1278I	ABCC10_ENST00000244533.3_Silent_p.I1250I	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1278	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	AGTTGGGCATCGTGGGCCGCA	0.642																																						uc003ouy.1		NaN																	0				ovary(6)|central_nervous_system(1)	7						c.(3832-3834)ATC>ATT		ATP-binding cassette, sub-family C, member 10							123.0	113.0	117.0					6																	43415550		2203	4300	6503	SO:0001819	synonymous_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43415550C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3834C>T	6.37:g.43415550C>T						ABCC10_uc003ouz.1_Silent_p.I1250I|ABCC10_uc010jyo.1_Silent_p.I384I	p.I1278I	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		18	4049	+	all_lung(25;0.00536)		1278			ABC transporter 2.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	c.3834C>T	CCDS56430.1																																																																																				0.642	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2		NM_033450		70	211	0	0	0	1	0	70	211		
XPO5	57510	broad.mit.edu	37	6	43495465	43495465	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:43495465C>T	ENST00000265351.7	-	26	3037	c.2827G>A	c.(2827-2829)Gaa>Aaa	p.E943K	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	943					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GCCTCATCTTCTCCACTGCAG	0.498																																						uc003ovp.2		NaN																	0				skin(2)|breast(1)|kidney(1)	4						c.(2827-2829)GAA>AAA		exportin 5							75.0	72.0	73.0					6																	43495465		1939	4150	6089	SO:0001583	missense	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43495465C>T	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.2827G>A	6.37:g.43495465C>T	ENSP00000265351:p.Glu943Lys					POLR1C_uc003ovo.1_Intron	p.E943K	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		26	3038	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		943					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	c.2827G>A	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844859	0.71603	.	.	ENSG00000124571	ENST00000265351;ENST00000436943;ENST00000372258;ENST00000439465	T	0.32753	1.44	5.3	5.3	0.74995	Armadillo-type fold (1);	0.095110	0.64402	D	0.000001	T	0.23926	0.0579	L	0.59436	1.845	0.58432	D	0.999998	P	0.48694	0.914	P	0.46452	0.517	T	0.04976	-1.0914	10	0.09084	T	0.74	-19.0363	19.3285	0.94273	0.0:1.0:0.0:0.0	.	943	Q9HAV4	XPO5_HUMAN	K	943;648;483;571	ENSP00000265351:E943K	ENSP00000265351:E943K	E	-	1	0	XPO5	43603443	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.573000	0.67417	2.636000	0.89361	0.655000	0.94253	GAA		0.498	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2		NM_020750		18	50	0	0	0	1	0	18	50		
POLH	5429	broad.mit.edu	37	6	43578408	43578408	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:43578408G>T	ENST00000372236.4	+	10	1487	c.1192G>T	c.(1192-1194)Gat>Tat	p.D398Y	POLH_ENST00000372226.1_Missense_Mutation_p.D398Y|POLH_ENST00000535400.1_Missense_Mutation_p.D336Y	NM_006502.2	NP_006493.1	O75417	DPOLQ_HUMAN	polymerase (DNA directed), eta	0	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GATGAGCCATGATGCATTTAC	0.468								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum																													uc003ovq.3		NaN																	0				breast(2)	2						c.(1192-1194)GAT>TAT	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase eta							82.0	64.0	70.0					6																	43578408		2203	4300	6503	SO:0001583	missense	5429	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr6:43578408G>T	AB024313	CCDS4902.1	6p21	2014-09-17			ENSG00000170734	ENSG00000170734			9181	protein-coding gene	gene with protein product		603968				10385124, 10398605	Standard	NM_006502		Approved	RAD30A, XP-V	uc003ovq.4	Q9Y253	OTTHUMG00000014743	ENST00000372236.4:c.1192G>T	6.37:g.43578408G>T	ENSP00000361310:p.Asp398Tyr					POLH_uc010jyu.2_Missense_Mutation_p.D274Y|POLH_uc011dvl.1_RNA|POLH_uc003ovr.3_Missense_Mutation_p.D299Y	p.D398Y	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		10	1496	+	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		398					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000372236.4	37	c.1192G>T	CCDS4902.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714057	0.89112	.	.	ENSG00000170734	ENST00000372236;ENST00000535400;ENST00000372226	T;T;T	0.63580	-0.05;-0.05;-0.05	5.92	5.92	0.95590	DNA polymerase, Y-family, little finger domain (2);	0.000000	0.85682	D	0.000000	T	0.78084	0.4228	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.78417	-0.2212	10	0.56958	D	0.05	-24.9953	18.5012	0.90882	0.0:0.0:1.0:0.0	.	336;398	B4DG64;Q9Y253	.;POLH_HUMAN	Y	398;336;398	ENSP00000361310:D398Y;ENSP00000442102:D336Y;ENSP00000361300:D398Y	ENSP00000361300:D398Y	D	+	1	0	POLH	43686386	1.000000	0.71417	0.975000	0.42487	0.987000	0.75469	7.162000	0.77515	2.813000	0.96785	0.561000	0.74099	GAT		0.468	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040666.1		NM_006502		19	44	1	0	2.4624e-09	1	2.56544e-09	19	44		
GTPBP2	54676	broad.mit.edu	37	6	43591732	43591732	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:43591732G>T	ENST00000307126.5	-	8	1173	c.1174C>A	c.(1174-1176)Ctg>Atg	p.L392M	GTPBP2_ENST00000307114.7_Missense_Mutation_p.L304M|GTPBP2_ENST00000476510.1_5'UTR	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AGTGGCGGCAGAATATTCAGA	0.512																																					GBM(116;405 1620 28302 32150 44768)	uc003ovs.2		NaN																	0				liver(1)|skin(1)	2						c.(1174-1176)CTG>ATG		GTP binding protein 2							111.0	109.0	110.0					6																	43591732		2203	4300	6503	SO:0001583	missense	54676						GTP binding|GTPase activity	g.chr6:43591732G>T	AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.1174C>A	6.37:g.43591732G>T	ENSP00000303997:p.Leu392Met					GTPBP2_uc010jyv.2_Missense_Mutation_p.L304M|GTPBP2_uc003ovt.1_Missense_Mutation_p.L392M	p.L392M	NM_019096	NP_061969	Q9BX10	GTPB2_HUMAN	all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		8	1211	-	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		392						Missense_Mutation	SNP	ENST00000307126.5	37	c.1174C>A	CCDS4903.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613054	0.66672	.	.	ENSG00000172432	ENST00000393882;ENST00000307126;ENST00000307114	T;T	0.73897	-0.79;-0.79	5.59	-0.0737	0.13734	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.81837	0.4907	M	0.90650	3.135	0.51012	D	0.999907	D;P	0.69078	0.997;0.922	D;P	0.68765	0.96;0.746	D	0.83762	0.0215	10	0.72032	D	0.01	-10.8994	10.8862	0.46968	0.4435:0.0:0.5565:0.0	.	384;392	Q9BX10-4;Q9BX10	.;GTPB2_HUMAN	M	34;392;304	ENSP00000303997:L392M;ENSP00000304893:L304M	ENSP00000304893:L304M	L	-	1	2	GTPBP2	43699710	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	2.027000	0.41078	0.031000	0.15407	0.655000	0.94253	CTG		0.512	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040679.1				31	86	1	0	2.61193e-14	1	2.75343e-14	31	86		
TMEM63B	55362	broad.mit.edu	37	6	44104156	44104156	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:44104156G>C	ENST00000259746.9	+	5	532	c.349G>C	c.(349-351)Gac>Cac	p.D117H	TMEM63B_ENST00000323267.6_Missense_Mutation_p.D117H			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	117					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CAGCTCCGTTGACTTTGACCA	0.577																																						uc003owr.2		NaN																	0				pancreas(2)|central_nervous_system(1)	3						c.(349-351)GAC>CAC		transmembrane protein 63B							119.0	98.0	105.0					6																	44104156		2203	4300	6503	SO:0001583	missense	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44104156G>C	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.349G>C	6.37:g.44104156G>C	ENSP00000259746:p.Asp117His					TMEM63B_uc003owq.1_Missense_Mutation_p.D117H|TMEM63B_uc010jyy.1_Missense_Mutation_p.D20H|TMEM63B_uc003ows.2_Missense_Mutation_p.D20H	p.D117H	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		5	413	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		117					B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	ENST00000259746.9	37	c.349G>C	CCDS34461.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	17.10|17.10	3.302471|3.302471	0.60195|0.60195	.|.	.|.	ENSG00000137216|ENSG00000137216	ENST00000259746;ENST00000532634;ENST00000323267|ENST00000371893	T;T;T|.	0.36878|.	1.23;1.23;1.23|.	4.6|4.6	4.6|4.6	0.57074|0.57074	.|.	0.054635|.	0.64402|.	D|.	0.000001|.	T|T	0.63462|0.63462	0.2513|0.2513	L|L	0.60455|0.60455	1.87|1.87	0.58432|0.58432	D|D	0.999996|0.999996	B;B;D|.	0.89917|.	0.372;0.386;1.0|.	B;B;D|.	0.91635|.	0.161;0.319;0.999|.	T|T	0.62558|0.62558	-0.6829|-0.6829	10|5	0.44086|.	T|.	0.13|.	.|.	16.5775|16.5775	0.84705|0.84705	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	117;117;117|.	Q5T3F8-3;Q5T3F8;Q5T3F8-2|.	.;TM63B_HUMAN;.|.	H|F	117|45	ENSP00000259746:D117H;ENSP00000437163:D117H;ENSP00000327154:D117H|.	ENSP00000259746:D117H|.	D|L	+|+	1|3	0|2	TMEM63B|TMEM63B	44212134|44212134	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.855000|8.855000	0.92236|0.92236	2.393000|2.393000	0.81446|0.81446	0.556000|0.556000	0.70494|0.70494	GAC|TTG		0.577	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2		XM_166410		18	54	0	0	0	1	0	18	54		
TMEM63B	55362	broad.mit.edu	37	6	44107235	44107235	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:44107235G>A	ENST00000259746.9	+	7	622	c.439G>A	c.(439-441)Gat>Aat	p.D147N	TMEM63B_ENST00000527188.1_3'UTR|TMEM63B_ENST00000323267.6_Missense_Mutation_p.D147N			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	147					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			ATGTGGGGGCGATGCCGTGCA	0.582																																						uc003owr.2		NaN																	0				pancreas(2)|central_nervous_system(1)	3						c.(439-441)GAT>AAT		transmembrane protein 63B							141.0	114.0	123.0					6																	44107235		2203	4300	6503	SO:0001583	missense	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44107235G>A	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.439G>A	6.37:g.44107235G>A	ENSP00000259746:p.Asp147Asn					TMEM63B_uc003owq.1_Missense_Mutation_p.D147N|TMEM63B_uc010jyy.1_Missense_Mutation_p.D50N|TMEM63B_uc003ows.2_Missense_Mutation_p.D50N|TMEM63B_uc010jyz.2_5'Flank	p.D147N	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		7	503	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		147					B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	ENST00000259746.9	37	c.439G>A	CCDS34461.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.074141	0.55646	.	.	ENSG00000137216	ENST00000259746;ENST00000532634;ENST00000323267	D;D;D	0.90133	-2.62;-2.62;-2.62	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.94118	0.8114	M	0.77486	2.375	0.58432	D	0.999995	D;D;P	0.69078	0.997;0.994;0.921	D;P;B	0.67382	0.951;0.891;0.387	D	0.94822	0.7988	10	0.87932	D	0	.	16.4147	0.83730	0.0:0.0:1.0:0.0	.	147;147;147	Q5T3F8-3;Q5T3F8;Q5T3F8-2	.;TM63B_HUMAN;.	N	147	ENSP00000259746:D147N;ENSP00000437163:D147N;ENSP00000327154:D147N	ENSP00000259746:D147N	D	+	1	0	TMEM63B	44215213	1.000000	0.71417	0.808000	0.32385	0.141000	0.21300	9.583000	0.98217	2.356000	0.79943	0.561000	0.74099	GAT		0.582	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2		XM_166410		21	73	0	0	0	1	0	21	73		
TNFRSF21	27242	broad.mit.edu	37	6	47254118	47254118	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:47254118C>G	ENST00000296861.2	-	2	703	c.310G>C	c.(310-312)Gag>Cag	p.E104Q		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	104					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TGGCATTTCTCTATGCCATTC	0.522																																						uc003oyv.2		NaN																	0					0						c.(310-312)GAG>CAG		tumor necrosis factor receptor superfamily,							134.0	118.0	124.0					6																	47254118		2203	4300	6503	SO:0001583	missense	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47254118C>G	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.310G>C	6.37:g.47254118C>G	ENSP00000296861:p.Glu104Gln						p.E104Q	NM_014452	NP_055267	O75509	TNR21_HUMAN	Lung(136;0.189)		2	743	-			104			TNFR-Cys 2.|Extracellular (Potential).		B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	c.310G>C	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668929	0.29604	.	.	ENSG00000146072	ENST00000296861	D	0.87571	-2.27	5.65	4.73	0.59995	TNFR/CD27/30/40/95 cysteine-rich region (2);	0.196432	0.53938	D	0.000050	T	0.72748	0.3499	N	0.25201	0.72	0.46222	D	0.998931	B	0.12013	0.005	B	0.12837	0.008	T	0.68247	-0.5459	10	0.40728	T	0.16	.	17.2405	0.87011	0.0:0.8746:0.1254:0.0	.	104	O75509	TNR21_HUMAN	Q	104	ENSP00000296861:E104Q	ENSP00000296861:E104Q	E	-	1	0	TNFRSF21	47362077	0.998000	0.40836	0.999000	0.59377	0.996000	0.88848	3.577000	0.53885	2.826000	0.97356	0.563000	0.77884	GAG		0.522	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1		NM_014452		46	124	0	0	0	1	0	46	124		
HMGCLL1	54511	broad.mit.edu	37	6	55406893	55406893	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:55406893C>G	ENST00000398661.2	-	3	375	c.244G>C	c.(244-246)Gaa>Caa	p.E82Q	HMGCLL1_ENST00000370850.2_Missense_Mutation_p.E52Q|HMGCLL1_ENST00000428842.1_Missense_Mutation_p.E52Q|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.E52Q|HMGCLL1_ENST00000508459.1_Missense_Mutation_p.E52Q|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.E52Q	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	82					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGCCCAACTTCTACTATTTTA	0.318																																					Ovarian(35;840 893 7837 15538 42887)	uc003pcn.2		NaN																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(244-246)GAA>CAA		3-hydroxymethyl-3-methylglutaryl-Coenzyme A							88.0	82.0	84.0					6																	55406893		1823	4084	5907	SO:0001583	missense	54511						hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr6:55406893C>G	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.244G>C	6.37:g.55406893C>G	ENSP00000381654:p.Glu82Gln					HMGCLL1_uc003pco.2_Missense_Mutation_p.E52Q|HMGCLL1_uc010jzx.2_5'UTR|HMGCLL1_uc011dxc.1_Missense_Mutation_p.E52Q|HMGCLL1_uc011dxd.1_Missense_Mutation_p.E52Q|HMGCLL1_uc011dxe.1_Missense_Mutation_p.E52Q|HMGCLL1_uc003pcp.2_Missense_Mutation_p.E52Q	p.E82Q	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		3	403	-	Lung NSC(77;0.0875)		82					B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	ENST00000398661.2	37	c.244G>C	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244617	0.79912	.	.	ENSG00000146151	ENST00000274901;ENST00000398661;ENST00000370850;ENST00000508459;ENST00000308161;ENST00000428842	D;D;D;D;D;D	0.99150	-5.17;-5.17;-5.49;-4.82;-5.17;-4.66	5.97	5.11	0.69529	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.98403	0.9469	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;1.0;0.984;0.997;0.995;1.0	D;D;P;D;P;D	0.85130	0.986;0.997;0.902;0.945;0.907;0.995	D	0.99936	1.1358	10	0.87932	D	0	-1.7816	15.0728	0.72053	0.0:0.9322:0.0:0.0678	.	52;52;52;52;52;82	B7Z4D4;B7Z212;F8W793;G5E9S9;Q8TB92-2;Q8TB92	.;.;.;.;.;HMGC2_HUMAN	Q	52;82;52;52;52;52	ENSP00000274901:E52Q;ENSP00000381654:E82Q;ENSP00000359887:E52Q;ENSP00000424309:E52Q;ENSP00000309737:E52Q;ENSP00000412924:E52Q	ENSP00000274901:E52Q	E	-	1	0	HMGCLL1	55514852	1.000000	0.71417	0.997000	0.53966	0.909000	0.53808	5.228000	0.65310	1.525000	0.49052	0.655000	0.94253	GAA		0.318	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1		XM_166383		4	25	0	0	0	1	0	4	25		
DST	667	broad.mit.edu	37	6	56507261	56507261	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:56507261C>T	ENST00000361203.3	-	12	1193	c.1186G>A	c.(1186-1188)Gac>Aac	p.D396N	DST_ENST00000370788.2_Missense_Mutation_p.D396N|DST_ENST00000370765.6_Missense_Mutation_p.D70N|DST_ENST00000446842.2_Missense_Mutation_p.D70N|DST_ENST00000370769.4_Missense_Mutation_p.D396N|DST_ENST00000370754.5_Missense_Mutation_p.D574N|DST_ENST00000312431.6_Missense_Mutation_p.D396N|DST_ENST00000421834.2_Missense_Mutation_p.D396N|DST_ENST00000244364.6_Missense_Mutation_p.D70N|DST_ENST00000518935.1_Missense_Mutation_p.D70N			Q03001	DYST_HUMAN	dystonin	396					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATGACACTGTCCCTCTGAACT	0.403																																						uc003pdf.2		NaN																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(1720-1722)GAC>AAC		dystonin isoform 2							106.0	103.0	104.0					6																	56507261		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56507261C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1186G>A	6.37:g.56507261C>T	ENSP00000354508:p.Asp396Asn					DST_uc003pcz.3_Missense_Mutation_p.D396N|DST_uc011dxj.1_Missense_Mutation_p.D425N|DST_uc011dxk.1_Missense_Mutation_p.D436N|DST_uc011dxl.1_Missense_Mutation_p.D425N|DST_uc003pcy.3_Missense_Mutation_p.D70N|DST_uc003pdb.2_Missense_Mutation_p.D70N|DST_uc003pdc.3_Missense_Mutation_p.D70N|DST_uc003pdd.3_Missense_Mutation_p.D70N|DST_uc003pde.2_Missense_Mutation_p.D512N	p.D574N	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		15	1748	-	Lung NSC(77;0.103)		396					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.1720G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.238220	0.95240	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935;ENST00000449297	D;D;D;D;D;D;D;D;D;D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06;-3.06;-3.06;-3.06;-3.06;-3.06;-3.06;-3.06;-3.06;-3.06	5.34	5.34	0.76211	.	0.224023	0.30584	N	0.009309	D	0.94108	0.8111	L	0.56769	1.78	0.32310	N	0.563843	D;P;P;P;D;D;D;D;P;B	0.76494	0.997;0.457;0.877;0.457;0.999;0.986;0.995;0.999;0.457;0.226	D;B;B;B;D;P;P;D;B;B	0.80764	0.989;0.227;0.398;0.227;0.994;0.835;0.885;0.968;0.227;0.137	D	0.90716	0.4631	9	0.23302	T	0.38	.	19.5946	0.95530	0.0:1.0:0.0:0.0	.	425;396;396;574;512;70;70;70;396;70	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	N	70;574;396;396;70;396;396;396;70;436;70;70;574	ENSP00000244364:D70N;ENSP00000359790:D574N;ENSP00000359805:D396N;ENSP00000400883:D396N;ENSP00000393645:D70N;ENSP00000307959:D396N;ENSP00000359824:D396N;ENSP00000354508:D396N;ENSP00000404924:D70N;ENSP00000431030:D436N;ENSP00000359801:D70N;ENSP00000431003:D70N;ENSP00000393082:D574N	ENSP00000244364:D70N	D	-	1	0	DST	56615220	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.189000	0.77747	2.937000	0.99478	0.650000	0.86243	GAC		0.403	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3		NM_001723		11	58	0	0	0	1	0	11	58		
PHF3	23469	broad.mit.edu	37	6	64389966	64389966	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:64389966G>A	ENST00000262043.3	+	3	650	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	PHF3_ENST00000509330.1_Missense_Mutation_p.E104K|PHF3_ENST00000393387.1_Missense_Mutation_p.E104K			Q92576	PHF3_HUMAN	PHD finger protein 3	104					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TACCATTGATGAAGAAGAACT	0.333																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1		NaN																	0				ovary(3)|lung(1)|skin(1)	5						c.(310-312)GAA>AAA		PHD finger protein 3							140.0	139.0	139.0					6																	64389966		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64389966G>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.310G>A	6.37:g.64389966G>A	ENSP00000262043:p.Glu104Lys					PHF3_uc010kaf.1_Missense_Mutation_p.E104K|PHF3_uc003pem.2_Missense_Mutation_p.E57K|PHF3_uc010kag.1_Missense_Mutation_p.E16K|PHF3_uc010kah.1_Intron|PHF3_uc003pen.2_Missense_Mutation_p.E16K|PHF3_uc011dxs.1_5'UTR|PHF3_uc003peo.2_Missense_Mutation_p.E104K	p.E104K	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		2	336	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		104					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.310G>A	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602547	0.46423	.	.	ENSG00000118482	ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387;ENST00000514822	T;T;T;T;T	0.57273	1.11;1.77;1.21;0.41;1.77	5.65	4.78	0.61160	.	0.197547	0.24920	N	0.034558	T	0.37237	0.0996	L	0.59436	1.845	0.46149	D	0.998893	B;B	0.22003	0.027;0.063	B;B	0.22152	0.018;0.038	T	0.43081	-0.9413	10	0.72032	D	0.01	-19.4997	14.5298	0.67917	0.0705:0.0:0.9295:0.0	.	104;104	Q92576;D6R9X2	PHF3_HUMAN;.	K	16;104;57;104;104;34	ENSP00000425227:E16K;ENSP00000262043:E104K;ENSP00000424078:E57K;ENSP00000422841:E104K;ENSP00000377048:E104K	ENSP00000262043:E104K	E	+	1	0	PHF3	64447925	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.596000	0.74113	1.395000	0.46643	0.591000	0.81541	GAA		0.333	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2				15	74	0	0	0	1	0	15	74		
PHF3	23469	broad.mit.edu	37	6	64389977	64389977	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:64389977G>C	ENST00000262043.3	+	3	661	c.321G>C	c.(319-321)ctG>ctC	p.L107L	PHF3_ENST00000509330.1_Silent_p.L107L|PHF3_ENST00000393387.1_Silent_p.L107L			Q92576	PHF3_HUMAN	PHD finger protein 3	107					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAGAAGAACTGATTTTACCTA	0.353																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1		NaN																	0				ovary(3)|lung(1)|skin(1)	5						c.(319-321)CTG>CTC		PHD finger protein 3							144.0	143.0	143.0					6																	64389977		2203	4300	6503	SO:0001819	synonymous_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64389977G>C	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.321G>C	6.37:g.64389977G>C						PHF3_uc010kaf.1_Silent_p.L107L|PHF3_uc003pem.2_Silent_p.L60L|PHF3_uc010kag.1_Silent_p.L19L|PHF3_uc010kah.1_Intron|PHF3_uc003pen.2_Silent_p.L19L|PHF3_uc011dxs.1_5'UTR|PHF3_uc003peo.2_Silent_p.L107L	p.L107L	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		2	347	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		107					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	ENST00000262043.3	37	c.321G>C	CCDS4966.1																																																																																				0.353	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2				16	77	0	0	0	1	0	16	77		
BAI3	577	broad.mit.edu	37	6	69653779	69653779	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:69653779G>C	ENST00000370598.1	+	6	1909	c.1088G>C	c.(1087-1089)cGa>cCa	p.R363P		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	363	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACATGTGGTCGAGGCCAAAGA	0.438																																						uc003pev.3		NaN																	0				lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(1087-1089)CGA>CCA		brain-specific angiogenesis inhibitor 3							246.0	193.0	211.0					6																	69653779		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69653779G>C	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1088G>C	6.37:g.69653779G>C	ENSP00000359630:p.Arg363Pro					BAI3_uc010kak.2_Missense_Mutation_p.R363P	p.R363P	NM_001704	NP_001695	O60242	BAI3_HUMAN			6	1536	+		all_lung(197;0.212)	363			Extracellular (Potential).|TSP type-1 2.		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.1088G>C	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960073	0.92791	.	.	ENSG00000135298	ENST00000370598	T	0.53423	0.62	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000002	T	0.47893	0.1470	N	0.26130	0.795	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	T	0.38373	-0.9664	10	0.34782	T	0.22	.	18.8518	0.92235	0.0:0.0:1.0:0.0	.	363	O60242	BAI3_HUMAN	P	363	ENSP00000359630:R363P	ENSP00000359630:R363P	R	+	2	0	BAI3	69710500	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.678000	0.91216	0.655000	0.94253	CGA		0.438	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1				22	68	0	0	0	1	0	22	68		
LMBRD1	55788	broad.mit.edu	37	6	70411792	70411792	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:70411792G>A	ENST00000370577.3	-	10	1198	c.969C>T	c.(967-969)ctC>ctT	p.L323L	LMBRD1_ENST00000370570.1_Silent_p.L250L	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	323					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						TTGACAAGAAGAGAGAAATTA	0.289																																						uc003pfa.2		NaN																	0				ovary(1)	1						c.(967-969)CTC>CTT		liver regeneration p-53 related protein							55.0	56.0	56.0					6																	70411792		2202	4288	6490	SO:0001819	synonymous_variant	55788				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	g.chr6:70411792G>A	AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.969C>T	6.37:g.70411792G>A						LMBRD1_uc003pey.2_Silent_p.L119L|LMBRD1_uc003pez.2_Silent_p.L250L|LMBRD1_uc010kal.2_Silent_p.L250L|LMBRD1_uc003pfb.2_RNA	p.L323L	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN			10	1084	-			323			Helical; Name=6; (Potential).		A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Silent	SNP	ENST00000370577.3	37	c.969C>T	CCDS4969.1																																																																																				0.289	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1		NM_018368		9	26	0	0	0	1	0	9	26		
COL19A1	1310	broad.mit.edu	37	6	70639408	70639408	+	Missense_Mutation	SNP	G	G	C	rs151153446		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:70639408G>C	ENST00000322773.4	+	6	584	c.482G>C	c.(481-483)cGa>cCa	p.R161P		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	161	Laminin G-like.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTTAGAAATCGAGAACTCCGT	0.378																																						uc003pfc.1		NaN																	0				ovary(2)|breast(2)	4						c.(481-483)CGA>CCA		alpha 1 type XIX collagen precursor							113.0	111.0	112.0					6																	70639408		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70639408G>C		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.482G>C	6.37:g.70639408G>C	ENSP00000316030:p.Arg161Pro					COL19A1_uc010kam.1_Missense_Mutation_p.R57P	p.R161P	NM_001858	NP_001849	Q14993	COJA1_HUMAN			6	599	+			161			TSP N-terminal.		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.482G>C	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.504939	0.26949	.	.	ENSG00000082293	ENST00000322773	T	0.13778	2.56	5.52	4.65	0.58169	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000011	T	0.09992	0.0245	L	0.47190	1.495	0.80722	D	1	D	0.56287	0.975	P	0.52217	0.693	T	0.15549	-1.0433	10	0.22109	T	0.4	.	11.4382	0.50081	0.1451:0.0:0.8549:0.0	.	161	Q14993	COJA1_HUMAN	P	161	ENSP00000316030:R161P	ENSP00000316030:R161P	R	+	2	0	COL19A1	70696129	1.000000	0.71417	0.985000	0.45067	0.788000	0.44548	5.137000	0.64789	1.332000	0.45431	0.467000	0.42956	CGA		0.378	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1				19	65	0	0	0	1	0	19	65		
RIMS1	22999	broad.mit.edu	37	6	72957812	72957812	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:72957812C>T	ENST00000521978.1	+	12	2223	c.2223C>T	c.(2221-2223)gtC>gtT	p.V741V	RIMS1_ENST00000425662.2_Silent_p.V134V|RIMS1_ENST00000264839.7_Silent_p.V741V|RIMS1_ENST00000517960.1_Silent_p.V741V|RIMS1_ENST00000523963.1_Silent_p.V215V|RIMS1_ENST00000517827.1_Silent_p.V200V|RIMS1_ENST00000401910.3_Silent_p.V215V|RIMS1_ENST00000491071.2_Silent_p.V741V|RIMS1_ENST00000348717.5_Silent_p.V741V|RIMS1_ENST00000518273.1_Silent_p.V741V|RIMS1_ENST00000522291.1_Silent_p.V741V|RIMS1_ENST00000520567.1_Silent_p.V741V	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	741					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCCCACAAGTCTTACCAGGGC	0.398																																						uc003pga.2		NaN																	0				ovary(7)|pancreas(2)|breast(1)	10						c.(2221-2223)GTC>GTT		regulating synaptic membrane exocytosis 1							117.0	112.0	113.0					6																	72957812		1829	4082	5911	SO:0001819	synonymous_variant	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72957812C>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2223C>T	6.37:g.72957812C>T						RIMS1_uc011dyb.1_Silent_p.V367V|RIMS1_uc003pgc.2_Silent_p.V367V|RIMS1_uc010kaq.2_Silent_p.V215V|RIMS1_uc011dyc.1_Silent_p.V215V|RIMS1_uc010kar.2_Silent_p.V134V|RIMS1_uc011dyd.1_Silent_p.V200V|RIMS1_uc003pgf.2_5'Flank|RIMS1_uc003pgg.2_5'Flank|RIMS1_uc003pgi.2_5'Flank|RIMS1_uc003pgh.2_5'Flank|RIMS1_uc003pgd.2_5'Flank|RIMS1_uc003pge.2_5'Flank|RIMS1_uc003pgb.3_Silent_p.V367V|RIMS1_uc010kas.1_Silent_p.V200V	p.V741V	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			12	2300	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	741					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	ENST00000521978.1	37	c.2223C>T	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	C	8.499	0.863712	0.17250	.	.	ENSG00000079841	ENST00000517433	.	.	.	5.73	0.719	0.18208	.	.	.	.	.	T	0.27098	0.0664	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.14309	-1.0477	4	.	.	.	-14.0465	3.2545	0.06827	0.1111:0.4909:0.2153:0.1827	.	.	.	.	F	315	.	.	L	+	1	0	RIMS1	73014533	0.987000	0.35691	0.995000	0.50966	0.992000	0.81027	0.553000	0.23391	-0.081000	0.12662	-0.259000	0.10710	CTT		0.398	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1				13	43	0	0	0	1	0	13	43		
SLC17A5	26503	broad.mit.edu	37	6	74363522	74363522	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:74363522C>T	ENST00000355773.5	-	1	356	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	SLC17A5_ENST00000393019.3_Missense_Mutation_p.E30K	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	30					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTACCGGCTTCGGCCCGTGGG	0.726																																						uc003phn.3		NaN																	0				skin(5)|central_nervous_system(1)	6						c.(88-90)GAA>AAA		sialin							8.0	10.0	9.0					6																	74363522		2073	4155	6228	SO:0001583	missense	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74363522C>T	AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.88G>A	6.37:g.74363522C>T	ENSP00000348019:p.Glu30Lys					SLC17A5_uc010kay.2_RNA|SLC17A5_uc011dyo.1_5'UTR	p.E30K	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN			1	216	-			30					Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	ENST00000355773.5	37	c.88G>A	CCDS4981.1	.	.	.	.	.	.	.	.	.	.	C	9.099	1.003638	0.19121	.	.	ENSG00000119899	ENST00000355773;ENST00000393019	T;T	0.59083	0.29;0.29	4.34	3.48	0.39840	Major facilitator superfamily domain, general substrate transporter (1);	1.821550	0.02326	N	0.073460	T	0.15955	0.0384	N	0.08118	0	0.23016	N	0.998428	B	0.28880	0.226	B	0.17098	0.017	T	0.14337	-1.0476	10	0.15066	T	0.55	.	9.9022	0.41355	0.0:0.9029:0.0:0.0971	.	30	Q9NRA2	S17A5_HUMAN	K	30	ENSP00000348019:E30K;ENSP00000376742:E30K	ENSP00000348019:E30K	E	-	1	0	SLC17A5	74420243	0.473000	0.25878	0.731000	0.30826	0.006000	0.05464	1.231000	0.32624	1.172000	0.42781	-0.224000	0.12420	GAA		0.726	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1				4	9	0	0	0	1	0	4	9		
FILIP1	27145	broad.mit.edu	37	6	76023801	76023801	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:76023801C>T	ENST00000237172.7	-	5	2077	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	FILIP1_ENST00000393004.2_Missense_Mutation_p.E583K|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.E484K	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	583										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GATTTTTCTTCTTCACTTTTC	0.338																																						uc003pia.2		NaN																	0				skin(3)|ovary(1)	4						c.(1747-1749)GAA>AAA		filamin A interacting protein 1							136.0	136.0	136.0					6																	76023801		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76023801C>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.1747G>A	6.37:g.76023801C>T	ENSP00000237172:p.Glu583Lys					FILIP1_uc003phy.1_Missense_Mutation_p.E583K|FILIP1_uc003phz.2_Missense_Mutation_p.E484K|FILIP1_uc010kbe.2_Missense_Mutation_p.E586K|FILIP1_uc003pib.1_Missense_Mutation_p.E335K	p.E583K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			5	2120	-			583			Potential.		B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.1747G>A	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270993	0.59540	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.20738	2.05;2.05;2.07	6.11	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	M	0.79123	2.44	0.51482	D	0.999922	D;D;D	0.76494	0.958;0.998;0.999	P;D;D	0.72075	0.531;0.947;0.976	T	0.32587	-0.9901	10	0.42905	T	0.14	-21.9257	17.3656	0.87363	0.0:0.8751:0.1249:0.0	.	583;583;583	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	K	583;583;484	ENSP00000376728:E583K;ENSP00000237172:E583K;ENSP00000359037:E484K	ENSP00000237172:E583K	E	-	1	0	FILIP1	76080521	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.956000	0.49129	1.557000	0.49525	0.655000	0.94253	GAA		0.338	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1		XM_029179		23	50	0	0	0	1	0	23	50		
FILIP1	27145	broad.mit.edu	37	6	76063265	76063265	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:76063265C>G	ENST00000237172.7	-	4	949	c.619G>C	c.(619-621)Gag>Cag	p.E207Q	FILIP1_ENST00000393004.2_Missense_Mutation_p.E207Q|FILIP1_ENST00000370020.1_Missense_Mutation_p.E108Q	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	207										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTCTCCCGCTCCTGCTCCAGC	0.527																																						uc003pia.2		NaN																	0				skin(3)|ovary(1)	4						c.(619-621)GAG>CAG		filamin A interacting protein 1							221.0	199.0	206.0					6																	76063265		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76063265C>G	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.619G>C	6.37:g.76063265C>G	ENSP00000237172:p.Glu207Gln					FILIP1_uc003phy.1_Missense_Mutation_p.E207Q|FILIP1_uc003phz.2_Missense_Mutation_p.E108Q|FILIP1_uc010kbe.2_Missense_Mutation_p.E210Q	p.E207Q	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			4	992	-			207			Potential.		B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.619G>C	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	33	5.261564	0.95368	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.52754	0.65;0.65;0.65	5.79	5.79	0.91817	Cortactin-binding protein-2, N-terminal (1);	0.051285	0.85682	D	0.000000	T	0.69314	0.3097	M	0.85777	2.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.993;0.988	T	0.69359	-0.5166	10	0.45353	T	0.12	-26.9555	20.0366	0.97561	0.0:1.0:0.0:0.0	.	207;207;207	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	Q	207;207;108	ENSP00000376728:E207Q;ENSP00000237172:E207Q;ENSP00000359037:E108Q	ENSP00000237172:E207Q	E	-	1	0	FILIP1	76119985	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.601000	0.82783	2.736000	0.93811	0.561000	0.74099	GAG		0.527	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1		XM_029179		42	151	0	0	0	1	0	42	151		
FILIP1	27145	broad.mit.edu	37	6	76124427	76124427	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:76124427C>A	ENST00000237172.7	-	2	592	c.262G>T	c.(262-264)Gaa>Taa	p.E88*	FILIP1_ENST00000393004.2_Nonsense_Mutation_p.E88*	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	88				ELSKEDLIQLLSIMEGE -> AQYAIYIVSRLILLHFL (in Ref. 2; BAA86589). {ECO:0000305}.						breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AACTCCCCTTCCATTATACTG	0.388																																						uc003pia.2		NaN																	0				skin(3)|ovary(1)	4						c.(262-264)GAA>TAA		filamin A interacting protein 1							179.0	172.0	174.0					6																	76124427		2203	4300	6503	SO:0001587	stop_gained	27145							g.chr6:76124427C>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.262G>T	6.37:g.76124427C>A	ENSP00000237172:p.Glu88*					FILIP1_uc003phy.1_Nonsense_Mutation_p.E88*|FILIP1_uc010kbe.2_Nonsense_Mutation_p.E91*	p.E88*	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			2	635	-			88	ELSKEDLIQLLSIMEGE -> AQYAIYIVSRLILLHFL (in Ref. 2; BAA86589).				B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Nonsense_Mutation	SNP	ENST00000237172.7	37	c.262G>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	40	7.978672	0.98591	.	.	ENSG00000118407	ENST00000393004;ENST00000237172	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.8533	19.9353	0.97137	0.0:1.0:0.0:0.0	.	.	.	.	X	88	.	ENSP00000237172:E88X	E	-	1	0	FILIP1	76181147	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.743000	0.68655	2.704000	0.92352	0.655000	0.94253	GAA		0.388	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1		XM_029179		47	145	1	0	4.10826e-27	1	4.38543e-27	47	145		
FAM46A	55603	broad.mit.edu	37	6	82461733	82461733	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:82461733G>A	ENST00000320172.6	-	2	440	c.126C>T	c.(124-126)ttC>ttT	p.F42F	FAM46A_ENST00000369756.3_Silent_p.F123F|FAM46A_ENST00000369754.3_Silent_p.F61F	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	42			Missing. {ECO:0000269|PubMed:12054608, ECO:0000269|PubMed:16545789}.		regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		cgccaccgccgaagtcgccgc	0.677																																						uc003pjg.2		NaN																	0					0						c.(124-126)TTC>TTT		hypothetical protein LOC55603							9.0	11.0	10.0					6																	82461733		1789	3682	5471	SO:0001819	synonymous_variant	55603							g.chr6:82461733G>A	AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"""chromosome 6 open reading frame 37"""	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.126C>T	6.37:g.82461733G>A						FAM46A_uc003pjf.2_Silent_p.F61F|FAM46A_uc003pjh.1_Silent_p.F42F	p.F42F	NM_017633	NP_060103	Q96IP4	FA46A_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0428)	2	444	-		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)	42		Missing.	4.		A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Silent	SNP	ENST00000320172.6	37	c.126C>T	CCDS34489.1																																																																																				0.677	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041331.1				20	32	0	0	0	1	0	20	32		
TPBG	7162	broad.mit.edu	37	6	83075366	83075366	+	Missense_Mutation	SNP	C	C	G	rs187936619		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:83075366C>G	ENST00000369750.3	+	2	1305	c.688C>G	c.(688-690)Ctg>Gtg	p.L230V	TPBG_ENST00000543496.1_Missense_Mutation_p.L230V|TPBG_ENST00000535040.1_Missense_Mutation_p.L230V			Q13641	TPBG_HUMAN	trophoblast glycoprotein	230					cell adhesion (GO:0007155)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GCGGGATGTGCTGGCCCAACT	0.627																																						uc003pjn.3		NaN																	0				central_nervous_system(1)	1						c.(688-690)CTG>GTG		trophoblast glycoprotein precursor							60.0	67.0	65.0					6																	83075366		2203	4300	6503	SO:0001583	missense	7162				cell adhesion	integral to plasma membrane		g.chr6:83075366C>G	AJ012159	CCDS4995.1	6q14-q15	2008-07-29			ENSG00000146242	ENSG00000146242			12004	protein-coding gene	gene with protein product		190920				8132670	Standard	NM_006670		Approved	5T4-AG, 5T4	uc003pjo.3	Q13641	OTTHUMG00000015103	ENST00000369750.3:c.688C>G	6.37:g.83075366C>G	ENSP00000358765:p.Leu230Val					TPBG_uc010kbj.2_Missense_Mutation_p.L230V|TPBG_uc003pjo.2_Missense_Mutation_p.L230V	p.L230V	NM_006670	NP_006661	Q13641	TPBG_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.107)	3	1624	+		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)	230			Extracellular (Potential).|LRR 4.		A8K555	Missense_Mutation	SNP	ENST00000369750.3	37	c.688C>G	CCDS4995.1	.	.	.	.	.	.	.	.	.	.	C	5.595	0.294627	0.10567	.	.	ENSG00000146242	ENST00000535040;ENST00000369750;ENST00000543496	T;T;T	0.61510	0.1;0.1;0.1	5.97	2.76	0.32466	.	0.202169	0.40640	N	0.001041	T	0.26846	0.0657	L	0.33710	1.025	0.09310	N	1	P	0.39576	0.679	B	0.41946	0.371	T	0.09509	-1.0671	10	0.72032	D	0.01	-8.1812	4.663	0.12652	0.0:0.5037:0.1694:0.3269	.	230	Q13641	TPBG_HUMAN	V	230	ENSP00000441219:L230V;ENSP00000358765:L230V;ENSP00000440049:L230V	ENSP00000358765:L230V	L	+	1	2	TPBG	83132085	0.980000	0.34600	0.003000	0.11579	0.024000	0.10985	2.166000	0.42406	0.808000	0.34231	0.655000	0.94253	CTG		0.627	TPBG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041340.1				42	128	0	0	0	1	0	42	128		
PREP	5550	broad.mit.edu	37	6	105800901	105800901	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:105800901G>A	ENST00000369110.3	-	7	961	c.769C>T	c.(769-771)Cca>Tca	p.P257S		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	257					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	CGGTTTACTGGATCACATCCT	0.378																																						uc003prc.2		NaN																	0				ovary(3)	3						c.(769-771)CCA>TCA		prolyl endopeptidase	Oxytocin(DB00107)						165.0	170.0	168.0					6																	105800901		2203	4300	6503	SO:0001583	missense	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105800901G>A		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.769C>T	6.37:g.105800901G>A	ENSP00000358106:p.Pro257Ser						p.P257S	NM_002726	NP_002717	P48147	PPCE_HUMAN			7	972	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)	257					Q8N6D4	Missense_Mutation	SNP	ENST00000369110.3	37	c.769C>T	CCDS5053.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451601	0.84209	.	.	ENSG00000085377	ENST00000369110	T	0.40225	1.04	5.56	5.56	0.83823	Peptidase S9A, oligopeptidase, N-terminal (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (2);	0.000000	0.85682	D	0.000000	T	0.42245	0.1194	L	0.45698	1.435	0.80722	D	1	D	0.54397	0.966	P	0.54372	0.75	T	0.05068	-1.0908	10	0.32370	T	0.25	-9.6577	18.6602	0.91469	0.0:0.0:1.0:0.0	.	257	P48147	PPCE_HUMAN	S	257	ENSP00000358106:P257S	ENSP00000358106:P257S	P	-	1	0	PREP	105907594	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.894000	0.87336	2.775000	0.95449	0.655000	0.94253	CCA		0.378	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1				35	124	0	0	0	1	0	35	124		
MICAL1	64780	broad.mit.edu	37	6	109771587	109771587	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:109771587C>G	ENST00000358807.3	-	8	1418	c.1107G>C	c.(1105-1107)atG>atC	p.M369I	MICAL1_ENST00000358577.3_Intron|MICAL1_ENST00000368952.4_Missense_Mutation_p.M388I|MICAL1_ENST00000483856.1_5'Flank	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	369	Monooxygenase domain. {ECO:0000250}.				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)			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)		CTGCCCGCATCATGCTCGTGA	0.607																																						uc003ptj.2		NaN																	0				breast(2)|ovary(1)	3						c.(1105-1107)ATG>ATC		microtubule associated monoxygenase, calponin							53.0	56.0	55.0					6																	109771587		2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109771587C>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.1107G>C	6.37:g.109771587C>G	ENSP00000351664:p.Met369Ile					MICAL1_uc003ptk.2_Missense_Mutation_p.M369I|MICAL1_uc010kdr.2_Intron|MICAL1_uc011eaq.1_Missense_Mutation_p.M388I	p.M369I	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)	7	1361	-		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)	369					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.1107G>C	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457230	0.63401	.	.	ENSG00000135596	ENST00000358807;ENST00000368952	T;T	0.10860	2.83;2.83	4.5	4.5	0.54988	.	0.049259	0.85682	D	0.000000	T	0.16642	0.0400	L	0.61387	1.9	0.80722	D	1	B;D	0.52996	0.013;0.957	B;P	0.57101	0.008;0.813	T	0.00339	-1.1805	10	0.52906	T	0.07	.	15.0887	0.72177	0.0:1.0:0.0:0.0	.	388;369	B7Z3R5;Q8TDZ2	.;MICA1_HUMAN	I	369;388	ENSP00000351664:M369I;ENSP00000357948:M388I	ENSP00000351664:M369I	M	-	3	0	MICAL1	109878280	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.521000	0.81832	2.497000	0.84241	0.563000	0.77884	ATG		0.607	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2		NM_022765		30	83	0	0	0	1	0	30	83		
CDC40	51362	broad.mit.edu	37	6	110531931	110531931	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:110531931G>A	ENST00000368932.1	+	7	753	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	CDC40_ENST00000307731.1_Missense_Mutation_p.E218K|CDC40_ENST00000368930.1_Missense_Mutation_p.E218K			O60508	PRP17_HUMAN	cell division cycle 40	218					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		AGAATTGGATGAAATCACAGC	0.318																																						uc003pua.2		NaN																	0					0						c.(652-654)GAA>AAA		cell division cycle 40 homolog							81.0	88.0	86.0					6																	110531931		2203	4300	6503	SO:0001583	missense	51362				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm		g.chr6:110531931G>A	AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"""WD repeat domain containing"""	17350	protein-coding gene	gene with protein product		605585	"""cell division cycle 40 homolog (yeast)"", ""cell division cycle 40 homolog (S. cerevisiae)"""			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.652G>A	6.37:g.110531931G>A	ENSP00000357928:p.Glu218Lys						p.E218K	NM_015891	NP_056975	O60508	PRP17_HUMAN		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)	6	676	+		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	218					B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	ENST00000368932.1	37	c.652G>A	CCDS5081.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077519	0.94000	.	.	ENSG00000168438	ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731	T;T;T;T	0.63744	0.09;-0.06;-0.06;0.09	5.92	5.06	0.68205	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.61813	0.2377	M	0.78344	2.41	0.80722	D	1	P	0.47677	0.899	P	0.47891	0.56	T	0.69030	-0.5253	10	0.59425	D	0.04	-16.0349	15.218	0.73285	0.0674:0.0:0.9326:0.0	.	218	O60508	PRP17_HUMAN	K	218	ENSP00000357928:E218K;ENSP00000357929:E218K;ENSP00000357926:E218K;ENSP00000304370:E218K	ENSP00000304370:E218K	E	+	1	0	CDC40	110638624	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.044000	0.93805	1.517000	0.48917	0.585000	0.79938	GAA		0.318	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041791.1		NM_015891		8	10	0	0	0	1	0	8	10		
CDK19	23097	broad.mit.edu	37	6	111136325	111136325	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:111136325G>A	ENST00000368911.3	-	1	194	c.15C>T	c.(13-15)ttC>ttT	p.F5F	CDK19_ENST00000497709.1_Intron|CDK19_ENST00000323817.3_Intron	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	5							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						GCTTCGCCTTGAAATCATAAT	0.652																																						uc003puh.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(13-15)TTC>TTT		cell division cycle 2-like 6 (CDK8-like)							73.0	71.0	72.0					6																	111136325		2203	4300	6503	SO:0001819	synonymous_variant	23097						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr6:111136325G>A	AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.15C>T	6.37:g.111136325G>A						AMD1_uc011eay.1_Intron|CDK19_uc003pui.1_Intron|uc003puj.1_5'Flank|CDK19_uc010kdv.1_RNA	p.F5F	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN			1	88	-			5					Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Silent	SNP	ENST00000368911.3	37	c.15C>T	CCDS5085.1																																																																																				0.652	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1		NM_015076		20	49	0	0	0	1	0	20	49		
REV3L	5980	broad.mit.edu	37	6	111632423	111632423	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:111632423C>G	ENST00000358835.3	-	30	9098	c.8644G>C	c.(8644-8646)Gat>Cat	p.D2882H	RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000368805.1_Missense_Mutation_p.D2882H|REV3L_ENST00000368802.3_Missense_Mutation_p.D2882H|REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000435970.1_Missense_Mutation_p.D2804H			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2882					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AGACTTATATCTCTCGTTTCA	0.348								DNA polymerases (catalytic subunits)																														uc003puy.3		NaN																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(8644-8646)GAT>CAT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							173.0	177.0	176.0					6																	111632423		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111632423C>G	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.8644G>C	6.37:g.111632423C>G	ENSP00000351697:p.Asp2882His					REV3L_uc003pux.3_Missense_Mutation_p.D2804H|REV3L_uc003puz.3_Missense_Mutation_p.D2804H|REV3L_uc003pva.1_RNA|REV3L_uc003puw.3_5'Flank	p.D2882H	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	29	8967	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	2882					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.8644G>C	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917165	0.92249	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.48	5.48	0.80851	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.164261	0.53938	D	0.000056	T	0.57184	0.2036	H	0.97023	3.925	0.80722	D	1	D	0.69078	0.997	D	0.69479	0.964	T	0.73588	-0.3935	10	0.87932	D	0	-10.2504	19.3434	0.94355	0.0:1.0:0.0:0.0	.	2882	O60673	DPOLZ_HUMAN	H	2882;2882;2882;2804	ENSP00000357792:D2882H;ENSP00000357795:D2882H;ENSP00000351697:D2882H;ENSP00000402003:D2804H	ENSP00000351697:D2882H	D	-	1	0	REV3L	111739116	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.758000	0.85224	2.580000	0.87095	0.557000	0.71058	GAT		0.348	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1		NM_002912		30	89	0	0	0	1	0	30	89		
RFPL4B	442247	broad.mit.edu	37	6	112671523	112671523	+	Missense_Mutation	SNP	C	C	G	rs143103700		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:112671523C>G	ENST00000441065.2	+	3	925	c.613C>G	c.(613-615)Cgc>Ggc	p.R205G	RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	205	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CCCTCGCCTTCGCCGTGTGGG	0.448																																						uc003pvx.1		NaN																	0					0						c.(613-615)CGC>GGC		ret finger protein-like 4B							72.0	67.0	69.0					6																	112671523		2203	4300	6503	SO:0001583	missense	442247						zinc ion binding	g.chr6:112671523C>G	AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"""RING-type (C3HC4) zinc fingers"""	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.613C>G	6.37:g.112671523C>G	ENSP00000423391:p.Arg205Gly						p.R205G	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)	3	925	+		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)	205			B30.2/SPRY.		A2RU91	Missense_Mutation	SNP	ENST00000441065.2	37	c.613C>G	CCDS34515.1	.	.	.	.	.	.	.	.	.	.	C	4.100	0.016653	0.07959	.	.	ENSG00000251258	ENST00000441065	T	0.71103	-0.54	4.48	-8.96	0.00761	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	2.793520	0.01584	N	0.021247	T	0.27765	0.0683	L	0.37561	1.115	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.10451	-1.0629	10	0.31617	T	0.26	.	3.2915	0.06950	0.086:0.3126:0.279:0.3224	.	205	Q6ZWI9	RFPLB_HUMAN	G	205	ENSP00000423391:R205G	ENSP00000423391:R205G	R	+	1	0	RFPL4B	112778216	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.751000	0.01821	-3.174000	0.00224	-0.885000	0.02943	CGC		0.448	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2		NM_001013734		21	50	0	0	0	1	0	21	50		
HS3ST5	222537	broad.mit.edu	37	6	114379227	114379227	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:114379227C>G	ENST00000312719.5	-	5	1423	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	HS3ST5_ENST00000411826.1_Missense_Mutation_p.E79Q|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	79					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		CGAACCTGCTCCTTGGAAGCG	0.597																																						uc003pwg.3		NaN																	0				ovary(1)|pancreas(1)	2						c.(235-237)GAG>CAG		heparan sulfate (glucosamine)							62.0	57.0	59.0					6																	114379227		2203	4300	6503	SO:0001583	missense	222537				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	g.chr6:114379227C>G	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.235G>C	6.37:g.114379227C>G	ENSP00000427888:p.Glu79Gln					uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.E79Q	p.E79Q	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)	2	267	-		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)	79			Lumenal (Potential).		A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	ENST00000312719.5	37	c.235G>C	CCDS34517.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513722	0.27123	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	T;T	0.46819	0.86;0.86	5.62	4.76	0.60689	.	0.284356	0.39210	N	0.001425	T	0.28532	0.0706	L	0.46157	1.445	0.46416	D	0.999036	B	0.06786	0.001	B	0.06405	0.002	T	0.17379	-1.0371	10	0.54805	T	0.06	.	15.1642	0.72807	0.0:0.9321:0.0:0.0679	.	79	Q8IZT8	HS3S5_HUMAN	Q	79	ENSP00000427888:E79Q;ENSP00000440332:E79Q	ENSP00000427888:E79Q	E	-	1	0	HS3ST5	114485920	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.529000	0.67135	1.525000	0.49052	-0.123000	0.14984	GAG		0.597	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2		NM_153612		14	69	0	0	0	1	0	14	69		
MAN1A1	4121	broad.mit.edu	37	6	119669725	119669725	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:119669725C>G	ENST00000368468.3	-	2	947	c.506G>C	c.(505-507)aGa>aCa	p.R169T	MAN1A1_ENST00000368466.2_Missense_Mutation_p.R169T	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	169					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GGGCAGGCCTCTGAACGGCGC	0.632																																					Ovarian(136;8 1825 12608 33541 47587)	uc003pym.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(505-507)AGA>ACA		mannosidase, alpha, class 1A, member 1							50.0	55.0	53.0					6																	119669725		2203	4300	6503	SO:0001583	missense	4121				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119669725C>G	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.506G>C	6.37:g.119669725C>G	ENSP00000357453:p.Arg169Thr					MAN1A1_uc010kei.1_Missense_Mutation_p.R169T	p.R169T	NM_005907	NP_005898	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	2	948	-		all_epithelial(87;0.173)	169			Lumenal (Potential).		E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	37	c.506G>C	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	C	9.655	1.142699	0.21205	.	.	ENSG00000111885	ENST00000368468;ENST00000368466	T;T	0.77229	-0.65;-1.08	5.24	2.36	0.29203	.	0.992958	0.08188	N	0.984302	T	0.51958	0.1705	L	0.47716	1.5	0.09310	N	1	B;B	0.23377	0.084;0.034	B;B	0.27887	0.084;0.047	T	0.46005	-0.9222	9	.	.	.	-12.5937	7.5491	0.27786	0.0:0.4606:0.39:0.1494	.	169;169	Q6P052;P33908	.;MA1A1_HUMAN	T	169	ENSP00000357453:R169T;ENSP00000357451:R169T	.	R	-	2	0	MAN1A1	119711424	0.000000	0.05858	0.000000	0.03702	0.855000	0.48748	1.025000	0.30090	0.179000	0.19938	0.455000	0.32223	AGA		0.632	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1		NM_005907		28	99	0	0	0	1	0	28	99		
SOGA3	387104	broad.mit.edu	37	6	127796494	127796494	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:127796494C>G	ENST00000525778.1	-	6	3422	c.2677G>C	c.(2677-2679)Gag>Cag	p.E893Q	SOGA3_ENST00000556132.1_Missense_Mutation_p.E893Q|SOGA3_ENST00000465909.2_Missense_Mutation_p.E893Q|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000481848.2_Missense_Mutation_p.E893Q|SOGA3_ENST00000368268.2_Missense_Mutation_p.E893Q			Q5TF21	SOGA3_HUMAN	SOGA family member 3	893					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TTGGGCACCTCGAGGCGGTCG	0.657																																						uc003qbd.2		NaN																	0				breast(3)|ovary(2)|skin(1)	6						c.(2677-2679)GAG>CAG		hypothetical protein LOC387104 precursor							47.0	54.0	52.0					6																	127796494		2141	4237	6378	SO:0001583	missense	387104					integral to membrane		g.chr6:127796494C>G	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2677G>C	6.37:g.127796494C>G	ENSP00000434570:p.Glu893Gln					C6orf174_uc003qbc.2_5'UTR	p.E893Q	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)	6	3542	-			893						Missense_Mutation	SNP	ENST00000525778.1	37	c.2677G>C	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335152	0.81801	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.37752	1.18;1.18;1.18;1.19	5.73	4.87	0.63330	.	0.045848	0.85682	D	0.000000	T	0.42562	0.1208	L	0.55481	1.735	0.58432	D	0.999996	D	0.71674	0.998	D	0.63033	0.91	T	0.44952	-0.9294	10	0.62326	D	0.03	-21.9728	14.7408	0.69451	0.0:0.9306:0.0:0.0694	.	893	Q5TF21	CF174_HUMAN	Q	893	ENSP00000451768:E893Q;ENSP00000357251:E893Q;ENSP00000434570:E893Q;ENSP00000435559:E893Q	ENSP00000435559:E893Q	E	-	1	0	C6orf174	127838187	1.000000	0.71417	0.972000	0.41901	0.989000	0.77384	7.770000	0.85390	1.429000	0.47314	0.561000	0.74099	GAG		0.657	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1		NM_001012279		39	124	0	0	0	1	0	39	124		
LAMA2	3908	broad.mit.edu	37	6	129636636	129636636	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:129636636G>A	ENST00000421865.2	+	25	3620	c.3571G>A	c.(3571-3573)Gag>Aag	p.E1191K		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1191	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCTGAAGGCTGAGCAGACCAT	0.463																																						uc003qbn.2		NaN																	0				ovary(8)|breast(1)|skin(1)	10						c.(3571-3573)GAG>AAG		laminin alpha 2 subunit isoform a precursor							94.0	90.0	91.0					6																	129636636		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129636636G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3571G>A	6.37:g.129636636G>A	ENSP00000400365:p.Glu1191Lys					LAMA2_uc003qbo.2_Missense_Mutation_p.E1191K	p.E1191K	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	25	3676	+			1191			Laminin IV type A 2.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.3571G>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.227025	0.58668	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.33654	1.4	5.87	2.06	0.26882	Laminin B type IV (1);	0.314304	0.33631	N	0.004717	T	0.18509	0.0444	L	0.59436	1.845	0.52501	D	0.999959	P;P	0.47762	0.9;0.9	B;B	0.43331	0.416;0.416	T	0.02560	-1.1141	10	0.29301	T	0.29	.	8.9079	0.35535	0.1226:0.2301:0.6473:0.0	.	1191;1191	A6NF00;P24043	.;LAMA2_HUMAN	K	1191	ENSP00000400365:E1191K	ENSP00000346769:E1191K	E	+	1	0	LAMA2	129678329	1.000000	0.71417	0.185000	0.23176	0.961000	0.63080	4.547000	0.60712	0.162000	0.19483	0.655000	0.94253	GAG		0.463	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1				22	71	0	0	0	1	0	22	71		
SAMD3	154075	broad.mit.edu	37	6	130535486	130535486	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:130535486G>C	ENST00000368134.2	-	6	873	c.265C>G	c.(265-267)Cga>Gga	p.R89G	SAMD3_ENST00000532763.1_Missense_Mutation_p.R89G|SAMD3_ENST00000324172.6_Missense_Mutation_p.R89G|SAMD3_ENST00000439090.2_Missense_Mutation_p.R89G|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000437477.2_Missense_Mutation_p.R89G|SAMD3_ENST00000457563.2_Missense_Mutation_p.R113G	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	89										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		ACTCACTCTCGAGCTGCTTCT	0.423																																						uc003qbv.2		NaN																	0				ovary(1)	1						c.(265-267)CGA>GGA		sterile alpha motif domain containing 3 isoform							116.0	119.0	118.0					6																	130535486		2203	4300	6503	SO:0001583	missense	154075							g.chr6:130535486G>C	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.265C>G	6.37:g.130535486G>C	ENSP00000357116:p.Arg89Gly					SAMD3_uc003qbx.2_Missense_Mutation_p.R89G|SAMD3_uc003qbw.2_Missense_Mutation_p.R89G|SAMD3_uc010kfg.1_Missense_Mutation_p.R89G|SAMD3_uc003qby.2_Missense_Mutation_p.R89G|SAMD3_uc003qbz.1_Missense_Mutation_p.R48G	p.R89G	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	5	591	-			89					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	c.265C>G	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	G	7.507	0.653877	0.14580	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763;ENST00000324172;ENST00000532309;ENST00000531544;ENST00000529723	T;T;T;T;T;T;T;T;T	0.42900	0.97;0.96;0.97;0.97;0.96;0.96;0.97;0.97;0.97	5.41	3.62	0.41486	.	1.194660	0.06062	N	0.658611	T	0.08133	0.0203	N	0.08118	0	0.09310	N	1	B;B;B;B	0.16396	0.003;0.017;0.001;0.0	B;B;B;B	0.15052	0.008;0.012;0.001;0.0	T	0.33292	-0.9874	10	0.20046	T	0.44	.	6.7266	0.23361	0.0835:0.0:0.5818:0.3347	.	113;89;89;89	B4DY20;Q4VXD9;Q8N6K7-2;Q8N6K7	.;.;.;SAMD3_HUMAN	G	89;113;89;89;89;89;89;89;87	ENSP00000357116:R89G;ENSP00000402092:R113G;ENSP00000403565:R89G;ENSP00000391163:R89G;ENSP00000436088:R89G;ENSP00000324874:R89G;ENSP00000436115:R89G;ENSP00000435875:R89G;ENSP00000434139:R87G	ENSP00000324874:R89G	R	-	1	2	SAMD3	130577179	0.011000	0.17503	0.008000	0.14137	0.094000	0.18550	0.767000	0.26575	0.652000	0.30806	0.573000	0.79308	CGA		0.423	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3		NM_152552		34	121	0	0	0	1	0	34	121		
SLC2A12	154091	broad.mit.edu	37	6	134350213	134350213	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:134350213G>C	ENST00000275230.5	-	2	905	c.750C>G	c.(748-750)ctC>ctG	p.L250L		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	250					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TGATCACAGTGAGTTCCTCAG	0.443																																					Melanoma(122;1663 1672 14489 35294 41228)	uc003qem.1		NaN																	0				ovary(1)	1						c.(748-750)CTC>CTG		solute carrier family 2 (facilitated glucose							75.0	74.0	74.0					6																	134350213		2203	4300	6503	SO:0001819	synonymous_variant	154091					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity	g.chr6:134350213G>C	AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.750C>G	6.37:g.134350213G>C							p.L250L	NM_145176	NP_660159	Q8TD20	GTR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)	2	921	-	Breast(56;0.214)|Colorectal(23;0.221)		250			Cytoplasmic (Potential).		B3KV17|Q7Z6U3|Q96MR8	Silent	SNP	ENST00000275230.5	37	c.750C>G	CCDS5169.1																																																																																				0.443	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1				18	67	0	0	0	1	0	18	67		
MAP7	9053	broad.mit.edu	37	6	136683622	136683622	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:136683622C>G	ENST00000354570.3	-	11	1902	c.1492G>C	c.(1492-1494)Gaa>Caa	p.E498Q	MAP7_ENST00000432797.2_Missense_Mutation_p.E352Q|RP3-406A7.3_ENST00000571188.1_RNA|MAP7_ENST00000544465.1_Missense_Mutation_p.E483Q|MAP7_ENST00000454590.1_Missense_Mutation_p.E520Q|MAP7_ENST00000438100.2_Missense_Mutation_p.E483Q	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	498					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTCTCCCTTTCTTCCTTTTCT	0.527																																						uc003qgz.2		NaN																	0					0						c.(1492-1494)GAA>CAA		microtubule-associated protein 7							189.0	184.0	186.0					6																	136683622		2203	4300	6503	SO:0001583	missense	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136683622C>G	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1492G>C	6.37:g.136683622C>G	ENSP00000346581:p.Glu498Gln					MAP7_uc011edf.1_Missense_Mutation_p.E483Q|MAP7_uc011edg.1_Missense_Mutation_p.E528Q|MAP7_uc010kgu.2_Missense_Mutation_p.E520Q|MAP7_uc011edh.1_Missense_Mutation_p.E483Q|MAP7_uc010kgv.2_Missense_Mutation_p.E520Q|MAP7_uc010kgs.2_Missense_Mutation_p.E352Q|MAP7_uc011edi.1_Missense_Mutation_p.E352Q|MAP7_uc010kgq.1_Missense_Mutation_p.E404Q|MAP7_uc003qha.1_Missense_Mutation_p.E461Q	p.E498Q	NM_003980	NP_003971	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	11	1738	-	Colorectal(23;0.24)		498			Potential.		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	c.1492G>C	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980574	0.74474	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	5.94	5.94	0.96194	.	0.000000	0.56097	D	0.000026	T	0.65749	0.2721	M	0.90759	3.145	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.998;0.999;0.998;0.998;0.999	T	0.71616	-0.4539	10	0.87932	D	0	-19.8835	20.3552	0.98837	0.0:1.0:0.0:0.0	.	483;520;483;520;404;461;498	B7Z290;B7ZB64;F5H1E2;E9PCP3;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;MAP7_HUMAN	Q	498;520;483;483;352;404	ENSP00000346581:E498Q;ENSP00000414712:E520Q;ENSP00000445737:E483Q;ENSP00000400790:E483Q;ENSP00000414879:E352Q	ENSP00000344217:E404Q	E	-	1	0	MAP7	136725315	1.000000	0.71417	0.998000	0.56505	0.738000	0.42128	7.414000	0.80117	2.812000	0.96745	0.557000	0.71058	GAA		0.527	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2		NM_003980		47	150	0	0	0	1	0	47	150		
HECA	51696	broad.mit.edu	37	6	139487792	139487792	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:139487792C>T	ENST00000367658.2	+	2	928	c.643C>T	c.(643-645)Cct>Tct	p.P215S	RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	215					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		AGGGAGGCCTCCTGGTGAGGC	0.597																																						uc003qin.2		NaN																	0					0						c.(643-645)CCT>TCT		headcase							31.0	37.0	35.0					6																	139487792		2203	4300	6503	SO:0001583	missense	51696				respiratory tube development			g.chr6:139487792C>T	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.643C>T	6.37:g.139487792C>T	ENSP00000356630:p.Pro215Ser						p.P215S	NM_016217	NP_057301	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	2	928	+			215						Missense_Mutation	SNP	ENST00000367658.2	37	c.643C>T	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	C	2.587	-0.296111	0.05532	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.13	2.16	0.27623	.	0.518891	0.20944	N	0.082866	T	0.03871	0.0109	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42515	-0.9447	9	0.06891	T	0.86	.	4.8789	0.13670	0.3138:0.5031:0.0:0.1831	.	215	Q9UBI9	HDC_HUMAN	S	215	.	ENSP00000356630:P215S	P	+	1	0	HECA	139529485	0.968000	0.33430	0.025000	0.17156	0.829000	0.46940	1.883000	0.39658	0.760000	0.33108	0.655000	0.94253	CCT		0.597	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1		NM_016217		14	48	0	0	0	1	0	14	48		
SHPRH	257218	broad.mit.edu	37	6	146275900	146275900	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:146275900C>G	ENST00000367505.2	-	2	823	c.559G>C	c.(559-561)Gaa>Caa	p.E187Q	SHPRH_ENST00000438092.2_Missense_Mutation_p.E187Q|SHPRH_ENST00000367503.3_Missense_Mutation_p.E187Q|SHPRH_ENST00000275233.7_Missense_Mutation_p.E187Q			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	187					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CCCAAATCTTCTAACATTTCA	0.363																																						uc003qlf.2		NaN																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(559-561)GAA>CAA		SNF2 histone linker PHD RING helicase isoform a							116.0	110.0	112.0					6																	146275900		1841	4099	5940	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146275900C>G	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.559G>C	6.37:g.146275900C>G	ENSP00000356475:p.Glu187Gln					SHPRH_uc003qld.2_Missense_Mutation_p.E187Q|SHPRH_uc003qle.2_Missense_Mutation_p.E187Q|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Missense_Mutation_p.E76Q|SHPRH_uc003qlk.1_Missense_Mutation_p.E187Q	p.E187Q	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	2	958	-		Ovarian(120;0.0365)	187					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.559G>C	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	15.10	2.731790	0.48939	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.66	3.78	0.43462	.	0.152179	0.42682	N	0.000674	T	0.42040	0.1185	L	0.34521	1.04	0.43195	D	0.995035	B;B;B;P	0.36909	0.121;0.19;0.288;0.573	B;B;B;B	0.37346	0.072;0.066;0.139;0.247	T	0.33085	-0.9882	10	0.31617	T	0.26	-15.4216	15.6416	0.77009	0.0:0.7306:0.2694:0.0	.	76;187;187;76	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	Q	187;187;187;187;76	ENSP00000356475:E187Q;ENSP00000356473:E187Q;ENSP00000412797:E187Q;ENSP00000275233:E187Q	ENSP00000275233:E187Q	E	-	1	0	SHPRH	146317593	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	2.798000	0.47884	0.665000	0.31066	0.655000	0.94253	GAA		0.363	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2		NM_173082		15	70	0	0	0	1	0	15	70		
SLC22A3	6581	broad.mit.edu	37	6	160769463	160769463	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:160769463C>G	ENST00000275300.2	+	1	164	c.12C>G	c.(10-12)ttC>ttG	p.F4L	SLC22A3_ENST00000392145.1_Missense_Mutation_p.F4L	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	4					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	TGCCCTCCTTCGACGAGGCGC	0.731																																						uc003qti.2		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(10-12)TTC>TTG		solute carrier family 22 member 3							16.0	15.0	15.0					6																	160769463		2110	4164	6274	SO:0001583	missense	6581					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	g.chr6:160769463C>G	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"""Solute carriers"""	10967	protein-coding gene	gene with protein product		604842	"""solute carrier family 22 (extraneuronal monoamine transporter), member 3"""			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.12C>G	6.37:g.160769463C>G	ENSP00000275300:p.Phe4Leu					SLC22A3_uc011efx.1_RNA	p.F4L	NM_021977	NP_068812	O75751	S22A3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	1	39	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	4					Q5SYN6|Q9UP02	Missense_Mutation	SNP	ENST00000275300.2	37	c.12C>G	CCDS5277.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.772528	0.31411	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.78003	-1.14;-1.09	3.42	1.53	0.23141	Major facilitator superfamily domain, general substrate transporter (1);	0.107669	0.37906	U	0.001887	T	0.47838	0.1467	L	0.46885	1.475	0.45676	D	0.998596	B	0.28026	0.198	B	0.24269	0.052	T	0.40905	-0.9538	10	0.33940	T	0.23	.	4.4295	0.11520	0.0:0.5864:0.1983:0.2153	.	4	O75751	S22A3_HUMAN	L	4	ENSP00000275300:F4L;ENSP00000375989:F4L	ENSP00000275300:F4L	F	+	3	2	SLC22A3	160689453	0.000000	0.05858	0.994000	0.49952	0.830000	0.47004	-2.494000	0.00972	0.414000	0.25790	0.306000	0.20318	TTC		0.731	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1		NM_021977		12	33	0	0	0	1	0	12	33		
LPA	4018	broad.mit.edu	37	6	161015047	161015047	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:161015047G>A	ENST00000316300.5	-	22	3616	c.3572C>T	c.(3571-3573)tCt>tTt	p.S1191F	LPA_ENST00000447678.1_Missense_Mutation_p.S1191F			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3699	Kringle 11. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGAGGACCAAGACTGACATGT	0.498																																						uc003qtl.2		NaN																	0				ovary(3)|skin(2)|pancreas(1)	6						c.(3571-3573)TCT>TTT		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						153.0	154.0	154.0					6																	161015047		2071	4242	6313	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161015047G>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3572C>T	6.37:g.161015047G>A	ENSP00000321334:p.Ser1191Phe						p.S1191F	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	23	3692	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3699			Kringle 33.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.3572C>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	10.14	1.267673	0.23136	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.67523	-0.27;-0.27	2.56	2.56	0.30785	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.60753	0.2293	L	0.38838	1.175	0.09310	N	0.999997	D	0.76494	0.999	D	0.91635	0.999	T	0.48958	-0.8988	9	0.62326	D	0.03	.	8.6141	0.33820	0.0:0.0:1.0:0.0	.	3699	P08519	APOA_HUMAN	F	1191	ENSP00000321334:S1191F;ENSP00000395608:S1191F	ENSP00000321334:S1191F	S	-	2	0	LPA	160935037	0.004000	0.15560	0.389000	0.26208	0.234000	0.25298	1.291000	0.33330	1.415000	0.47037	0.436000	0.28706	TCT		0.498	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1		NM_005577		34	84	0	0	0	1	0	34	84		
TTLL2	83887	broad.mit.edu	37	6	167754887	167754887	+	Nonsense_Mutation	SNP	C	C	G	rs190195718	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:167754887C>G	ENST00000239587.5	+	3	1587	c.1499C>G	c.(1498-1500)tCa>tGa	p.S500*		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	500					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TTTCATCTGTCAACAAGGGAG	0.567													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19921	0.0		0.0	False		,,,				2504	0.0					uc003qvs.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1498-1500)TCA>TGA		tubulin tyrosine ligase-like family, member 2							123.0	105.0	111.0					6																	167754887		2203	4300	6503	SO:0001587	stop_gained	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167754887C>G	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1499C>G	6.37:g.167754887C>G	ENSP00000239587:p.Ser500*					TTLL2_uc011egr.1_RNA	p.S500*	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	1587	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	500					B2RB11|B3KS77|Q7Z6R8|Q86X22	Nonsense_Mutation	SNP	ENST00000239587.5	37	c.1499C>G	CCDS5301.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	17.84	3.488784	0.64074	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	.	.	.	3.48	1.65	0.23941	.	2.475010	0.01697	N	0.026967	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	8.7891	0.34839	0.0:0.7904:0.0:0.2096	.	.	.	.	X	500;427	.	ENSP00000239587:S500X	S	+	2	0	TTLL2	167674877	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.224000	0.09164	0.792000	0.33850	0.491000	0.48974	TCA		0.567	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3		NM_031949		18	91	0	0	0	1	0	18	91		
GET4	51608	broad.mit.edu	37	7	926275	926275	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:926275G>A	ENST00000265857.3	+	3	398	c.304G>A	c.(304-306)Gac>Aac	p.D102N	RP11-449P15.2_ENST00000609998.1_RNA|GET4_ENST00000407192.1_Missense_Mutation_p.D49N	NM_015949.2	NP_057033.2	Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	102					tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)				breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGAGGTGGCTGACGAGCTGCT	0.607																																						uc003sjl.1		NaN																	0					0						c.(304-306)GAC>AAC		hypothetical protein LOC51608							114.0	111.0	112.0					7																	926275		2202	4300	6502	SO:0001583	missense	51608				tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding	g.chr7:926275G>A	AK023560	CCDS5317.1	7p22.3	2010-08-05	2010-03-24	2010-03-24	ENSG00000239857	ENSG00000239857			21690	protein-coding gene	gene with protein product	"""CGI-20 protein"", ""conserved edge protein"", ""transmembrane domain recognition complex, 35kDa"""	612056	"""chromosome 7 open reading frame 20"""	C7orf20		10810093, 20106980, 20676083	Standard	NM_015949		Approved	CGI-20, H_NH1244M04.5, CEE, TRC35	uc003sjl.1	Q7L5D6	OTTHUMG00000112459	ENST00000265857.3:c.304G>A	7.37:g.926275G>A	ENSP00000265857:p.Asp102Asn					GET4_uc003sjj.1_RNA	p.D102N	NM_015949	NP_057033	Q7L5D6	GET4_HUMAN			3	396	+			102					A4D2Q1|B3KNC7|Q9UFC9|Q9Y309	Missense_Mutation	SNP	ENST00000265857.3	37	c.304G>A	CCDS5317.1	.	.	.	.	.	.	.	.	.	.	g	13.74	2.328294	0.41197	.	.	ENSG00000239857	ENST00000265857;ENST00000412734;ENST00000407192;ENST00000441491	T	0.74632	-0.86	5.58	3.78	0.43462	.	0.222920	0.52532	N	0.000064	T	0.72590	0.3479	M	0.69358	2.11	0.58432	D	0.999998	P	0.37594	0.601	B	0.40506	0.331	T	0.68040	-0.5514	10	0.30078	T	0.28	-13.1235	12.0257	0.53368	0.1401:0.0:0.8599:0.0	.	102	Q7L5D6	GET4_HUMAN	N	102;56;49;114	ENSP00000265857:D102N	ENSP00000265857:D102N	D	+	1	0	GET4	892801	1.000000	0.71417	0.026000	0.17262	0.003000	0.03518	9.540000	0.98080	0.720000	0.32209	-0.156000	0.13503	GAC		0.607	GET4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000231930.1		NM_015949		30	76	0	0	0	1	0	30	76		
RBAK	57786	broad.mit.edu	37	7	5104113	5104113	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:5104113G>C	ENST00000353796.3	+	6	1350	c.1026G>C	c.(1024-1026)gaG>gaC	p.E342D	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000396912.1_Missense_Mutation_p.E342D|RBAK-RBAKDN_ENST00000407184.1_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	342					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		ATTCAGGAGAGAAACCCTACG	0.443																																						uc010kss.1		NaN																	0				ovary(3)|kidney(1)|skin(1)	5						c.(1024-1026)GAG>GAC		RB-associated KRAB repressor							132.0	134.0	133.0					7																	5104113		2203	4300	6503	SO:0001583	missense	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5104113G>C	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1026G>C	7.37:g.5104113G>C	ENSP00000275423:p.Glu342Asp					LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.E342D	p.E342D	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	6	1350	+		Ovarian(82;0.0175)	342					A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	c.1026G>C	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301508	0.60195	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.26810	1.71;1.71	3.76	1.94	0.25998	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000070	T	0.32556	0.0833	L	0.33753	1.03	0.35313	D	0.784115	P	0.52061	0.95	D	0.68765	0.96	T	0.36553	-0.9743	8	.	.	.	.	8.0936	0.30816	0.21:0.0:0.79:0.0	.	342	Q9NYW8	RBAK_HUMAN	D	342	ENSP00000275423:E342D;ENSP00000380120:E342D	.	E	+	3	2	RBAK	5070639	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.994000	0.56994	0.560000	0.29169	0.555000	0.69702	GAG		0.443	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2		NM_021163		40	104	0	0	0	1	0	40	104		
RBAK	57786	broad.mit.edu	37	7	5104735	5104735	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:5104735G>C	ENST00000353796.3	+	6	1972	c.1648G>C	c.(1648-1650)Gag>Cag	p.E550Q	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000396912.1_Missense_Mutation_p.E550Q|RBAK-RBAKDN_ENST00000407184.1_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	550	Interaction with AR.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E550K(1)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GTTATTCAATGAGTTGTCATA	0.388																																						uc010kss.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)|skin(1)	5						c.(1648-1650)GAG>CAG		RB-associated KRAB repressor							63.0	63.0	63.0					7																	5104735		2203	4299	6502	SO:0001583	missense	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5104735G>C	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1648G>C	7.37:g.5104735G>C	ENSP00000275423:p.Glu550Gln					LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.E550Q	p.E550Q	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	6	1972	+		Ovarian(82;0.0175)	550			Interaction with AR.|C2H2-type 11.		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	c.1648G>C	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.466798	0.01053	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.13778	2.56;2.56	3.76	2.87	0.33458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.572849	0.15837	N	0.242235	T	0.04543	0.0124	N	0.01405	-0.89	0.23909	N	0.996495	B	0.10296	0.003	B	0.15484	0.013	T	0.24261	-1.0165	8	.	.	.	.	11.6126	0.51069	0.0:0.1819:0.8181:0.0	.	550	Q9NYW8	RBAK_HUMAN	Q	550	ENSP00000275423:E550Q;ENSP00000380120:E550Q	.	E	+	1	0	RBAK	5071261	0.000000	0.05858	0.770000	0.31555	0.894000	0.52154	-1.498000	0.02287	1.146000	0.42352	0.555000	0.69702	GAG		0.388	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2		NM_021163		15	44	0	0	0	1	0	15	44		
ACTB	60	broad.mit.edu	37	7	5567464	5567464	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:5567464G>C	ENST00000331789.5	-	6	1234	c.1043C>G	c.(1042-1044)tCg>tGg	p.S348W	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'UTR	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	348					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GGTGGACAGCGAGGCCAGGAT	0.587																																						uc003sos.3		NaN																	0					0						c.(1042-1044)TCG>TGG		beta actin							71.0	74.0	73.0					7																	5567464		2203	4300	6503	SO:0001583	missense	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5567464G>C	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.1043C>G	7.37:g.5567464G>C	ENSP00000349960:p.Ser348Trp					ACTB_uc003sor.3_Missense_Mutation_p.S226W|ACTB_uc003sot.3_Missense_Mutation_p.S348W|ACTB_uc003soq.3_Missense_Mutation_p.S226W|ACTB_uc010ksy.2_Missense_Mutation_p.S226W	p.S348W	NM_001101	NP_001092	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	5	1079	-		Ovarian(82;0.0606)	348					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	c.1043C>G	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.005489	0.54254	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.95588	-3.75	5.55	4.66	0.58398	.	0.000000	0.53938	D	0.000041	D	0.98782	0.9590	H	0.99590	4.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98652	1.0680	10	0.87932	D	0	.	13.966	0.64209	0.0744:0.0:0.9255:0.0	.	348	P60709	ACTB_HUMAN	W	348;324;320;267	ENSP00000349960:S348W	ENSP00000440549:S267W	S	-	2	0	ACTB	5533990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.659000	0.83766	2.617000	0.88574	0.650000	0.86243	TCG		0.587	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4		NM_001101		34	137	0	0	0	1	0	34	137		
USP42	84132	broad.mit.edu	37	7	6193699	6193699	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:6193699G>A	ENST00000306177.5	+	15	2672	c.2514G>A	c.(2512-2514)atG>atA	p.M838I		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	838	Pro-rich.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CAAAGGGGATGATCGCGGAGG	0.701																																						uc011jwo.1		NaN																	0				skin(2)|ovary(1)|pancreas(1)|breast(1)	5						c.(2512-2514)ATG>ATA		ubiquitin specific peptidase 42							29.0	35.0	33.0					7																	6193699		1863	3990	5853	SO:0001583	missense	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6193699G>A	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.2514G>A	7.37:g.6193699G>A	ENSP00000301962:p.Met838Ile					USP42_uc011jwp.1_Missense_Mutation_p.M838I|USP42_uc011jwq.1_Missense_Mutation_p.M645I|USP42_uc011jwr.1_Missense_Mutation_p.M683I	p.M838I	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	15	2637	+		Ovarian(82;0.0423)	838			Pro-rich.		A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	c.2514G>A	CCDS47535.1	.	.	.	.	.	.	.	.	.	.	G	8.906	0.957580	0.18507	.	.	ENSG00000106346	ENST00000306177;ENST00000426246	T;T	0.13420	2.59;3.0	4.98	-8.41	0.00961	.	1.683730	0.02782	N	0.121018	T	0.04318	0.0119	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30060	-0.9991	10	0.33940	T	0.23	.	1.3317	0.02136	0.4247:0.1035:0.1447:0.3272	.	838;838	Q9H9J4-2;Q9H9J4	.;UBP42_HUMAN	I	838;684	ENSP00000301962:M838I;ENSP00000408217:M684I	ENSP00000301962:M838I	M	+	3	0	USP42	6160224	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.484000	0.02316	-1.357000	0.02180	-1.267000	0.01435	ATG		0.701	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3		XM_166526		32	94	0	0	0	1	0	32	94		
ZNF12	7559	broad.mit.edu	37	7	6731839	6731839	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:6731839C>G	ENST00000405858.1	-	5	1275	c.734G>C	c.(733-735)gGa>gCa	p.G245A	ZNF12_ENST00000342651.5_Missense_Mutation_p.G207A|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.G171A|AC073343.2_ENST00000577401.1_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	245					negative regulation of transcription, DNA-templated (GO:0045892)|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)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TATTTCAGATCCATTCCACTT	0.393																																						uc003sqt.1		NaN																	0					0						c.(733-735)GGA>GCA		zinc finger protein 12 isoform a							54.0	58.0	56.0					7																	6731839		2113	4261	6374	SO:0001583	missense	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6731839C>G	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.734G>C	7.37:g.6731839C>G	ENSP00000385939:p.Gly245Ala					ZNF12_uc011jxa.1_Missense_Mutation_p.G83A|ZNF12_uc003sqs.1_Missense_Mutation_p.G207A	p.G245A	NM_016265	NP_057349	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	5	1288	-		Ovarian(82;0.0776)	245					A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	c.734G>C	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473424	0.26423	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476;ENST00000330442	T;T;T	0.59638	0.25;1.69;1.69	4.03	1.6	0.23607	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.325939	0.22414	N	0.060362	T	0.29256	0.0728	N	0.04508	-0.205	0.22571	N	0.998975	B;B	0.27498	0.113;0.18	B;B	0.26310	0.05;0.068	T	0.15665	-1.0429	10	0.51188	T	0.08	.	5.0318	0.14413	0.0:0.1063:0.1848:0.7089	.	245;207	P17014;P17014-5	ZNF12_HUMAN;.	A	171;245;207;303;209	ENSP00000384405:G171A;ENSP00000385939:G245A;ENSP00000344745:G207A	ENSP00000331039:G209A	G	-	2	0	ZNF12	6698364	0.000000	0.05858	0.852000	0.33557	0.982000	0.71751	-0.308000	0.08156	0.338000	0.23692	-0.471000	0.05019	GGA		0.393	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2		NM_016265		11	32	0	0	0	1	0	11	32		
ZNF12	7559	broad.mit.edu	37	7	6731904	6731904	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:6731904C>G	ENST00000405858.1	-	5	1210	c.669G>C	c.(667-669)caG>caC	p.Q223H	ZNF12_ENST00000342651.5_Missense_Mutation_p.Q185H|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.Q149H|AC073343.2_ENST00000577401.1_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	223					negative regulation of transcription, DNA-templated (GO:0045892)|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)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GGAAGGCTTTCTGGCATTCAA	0.348																																						uc003sqt.1		NaN																	0					0						c.(667-669)CAG>CAC		zinc finger protein 12 isoform a							49.0	49.0	49.0					7																	6731904		1890	4142	6032	SO:0001583	missense	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6731904C>G	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.669G>C	7.37:g.6731904C>G	ENSP00000385939:p.Gln223His					ZNF12_uc011jxa.1_Missense_Mutation_p.Q61H|ZNF12_uc003sqs.1_Missense_Mutation_p.Q185H	p.Q223H	NM_016265	NP_057349	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	5	1223	-		Ovarian(82;0.0776)	223					A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	c.669G>C	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877302	0.51801	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476;ENST00000330442	T;T;T	0.60548	0.18;1.63;1.63	4.03	2.21	0.28008	.	0.000000	0.41001	D	0.000980	T	0.48696	0.1514	L	0.27053	0.805	0.33529	D	0.593387	D;D	0.57899	0.967;0.981	P;P	0.49953	0.525;0.627	T	0.61647	-0.7020	10	0.72032	D	0.01	.	8.4166	0.32674	0.0:0.8014:0.0:0.1986	.	223;185	P17014;P17014-5	ZNF12_HUMAN;.	H	149;223;185;281;187	ENSP00000384405:Q149H;ENSP00000385939:Q223H;ENSP00000344745:Q185H	ENSP00000331039:Q187H	Q	-	3	2	ZNF12	6698429	0.000000	0.05858	0.999000	0.59377	0.997000	0.91878	0.300000	0.19156	0.649000	0.30751	0.563000	0.77884	CAG		0.348	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2		NM_016265		3	26	0	0	0	1	0	3	26		
SNX13	23161	broad.mit.edu	37	7	17931249	17931249	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:17931249C>T	ENST00000409389.1	-	4	410	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	SNX13_ENST00000428135.3_Missense_Mutation_p.E80K|SNX13_ENST00000409604.1_Missense_Mutation_p.E80K			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	80					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CGTTTCATTTCTTCTAAGCAC	0.368																																						uc003stw.1		NaN																	0				central_nervous_system(2)|kidney(1)	3						c.(238-240)GAA>AAA		SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;							88.0	83.0	85.0					7																	17931249		1816	4072	5888	SO:0001583	missense	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17931249C>T	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.238G>A	7.37:g.17931249C>T	ENSP00000386705:p.Glu80Lys					SNX13_uc003stv.2_Missense_Mutation_p.E80K|SNX13_uc010kuc.2_5'UTR|SNX13_uc003stx.1_5'UTR|SNX13_uc003sty.2_Missense_Mutation_p.E80K	p.E80K			Q9Y5W8	SNX13_HUMAN			4	451	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		80					B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	37	c.238G>A		.	.	.	.	.	.	.	.	.	.	C	16.91	3.253108	0.59212	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044;ENST00000409604	T;T	0.17054	2.3;2.56	5.5	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.10294	0.0252	N	0.19112	0.55	0.80722	D	1	P;B;P	0.38020	0.615;0.179;0.48	B;B;B	0.32211	0.1;0.039;0.142	T	0.19418	-1.0306	10	0.18276	T	0.48	-17.8032	14.2728	0.66162	0.0:0.9284:0.0:0.0716	.	80;80;80	Q9NSH0;B8ZZT9;Q9Y5W8-2	.;.;.	K	80;80;128;80	ENSP00000386705:E80K;ENSP00000398789:E80K	ENSP00000242044:E128K	E	-	1	0	SNX13	17897774	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	7.166000	0.77553	1.335000	0.45486	-0.142000	0.14014	GAA		0.368	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1		NM_015132		5	21	0	0	0	1	0	5	21		
DNAH11	8701	broad.mit.edu	37	7	21640356	21640356	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:21640356G>A	ENST00000409508.3	+	16	3094	c.3063G>A	c.(3061-3063)gtG>gtA	p.V1021V	DNAH11_ENST00000328843.6_Silent_p.V1021V	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1021	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACAGAGTGGTGAATGTCATCA	0.428									Kartagener syndrome																													uc003svc.2		NaN																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(3061-3063)GTG>GTA		dynein, axonemal, heavy chain 11							206.0	203.0	204.0					7																	21640356		1981	4178	6159	SO:0001819	synonymous_variant	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21640356G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3063G>A	7.37:g.21640356G>A							p.V1021V	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			16	3094	+			1021			Stem (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.3063G>A																																																																																					0.428	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		NM_003777		47	145	0	0	0	1	0	47	145		
DNAH11	8701	broad.mit.edu	37	7	21856220	21856220	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:21856220G>A	ENST00000409508.3	+	64	10499	c.10468G>A	c.(10468-10470)Gag>Aag	p.E3490K	DNAH11_ENST00000328843.6_Missense_Mutation_p.E3497K	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3497	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AACACACTGTGAGCGCTGGCC	0.488									Kartagener syndrome																													uc003svc.2		NaN																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(10489-10491)GAG>AAG		dynein, axonemal, heavy chain 11							96.0	91.0	93.0					7																	21856220		1966	4151	6117	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21856220G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10468G>A	7.37:g.21856220G>A	ENSP00000475939:p.Glu3490Lys						p.E3497K	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			65	10520	+			3497			AAA 5 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.10489G>A		.	.	.	.	.	.	.	.	.	.	G	15.82	2.946759	0.53186	.	.	ENSG00000105877	ENST00000328843	T	0.25250	1.81	5.52	4.63	0.57726	.	0.141743	0.64402	N	0.000006	T	0.20820	0.0501	.	.	.	0.52099	D	0.999946	B	0.31241	0.315	B	0.32289	0.143	T	0.03394	-1.1041	9	0.20046	T	0.44	.	15.0426	0.71803	0.0694:0.0:0.9306:0.0	.	3497	Q96DT5	DYH11_HUMAN	K	3497	ENSP00000330671:E3497K	ENSP00000330671:E3497K	E	+	1	0	DNAH11	21822745	0.998000	0.40836	0.978000	0.43139	0.829000	0.46940	2.582000	0.46085	1.440000	0.47531	0.563000	0.77884	GAG		0.488	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		NM_003777		9	27	0	0	0	1	0	9	27		
HNRNPA2B1	3181	broad.mit.edu	37	7	26236541	26236541	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:26236541C>G	ENST00000354667.4	-	5	565	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.E121Q	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	133	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CCATATTCCTCAAAGTAATCT	0.383			T	ETV1	prostate																																	uc003sxr.3		NaN		Dom	yes		7	7p15	3181	T	heterogeneous nuclear ribonucleoprotein A2/B1			E	ETV1		prostate		0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(397-399)GAG>CAG		heterogeneous nuclear ribonucleoprotein A2/B1							161.0	161.0	161.0					7																	26236541		2203	4300	6503	SO:0001583	missense	3181				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding	g.chr7:26236541C>G	D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"""RNA binding motif (RRM) containing"""	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.397G>C	7.37:g.26236541C>G	ENSP00000346694:p.Glu133Gln					HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.E121Q	p.E133Q	NM_031243	NP_112533	P22626	ROA2_HUMAN			5	613	-			133			RRM 2.		A8K064|P22627|Q9UC98|Q9UDJ2	Missense_Mutation	SNP	ENST00000354667.4	37	c.397G>C	CCDS43557.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321260	0.81580	.	.	ENSG00000122566	ENST00000354667;ENST00000356674;ENST00000409814	D;D	0.88896	-2.44;-2.44	6.06	5.19	0.71726	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000001	D	0.87884	0.6290	N	0.25286	0.73	0.32560	N	0.531197	D;D	0.69078	0.996;0.997	P;P	0.59546	0.801;0.859	D	0.89549	0.3798	10	0.49607	T	0.09	.	10.9309	0.47217	0.13:0.8033:0.0:0.0667	.	121;133	P22626-2;P22626	.;ROA2_HUMAN	Q	133;121;121	ENSP00000346694:E133Q;ENSP00000349101:E121Q	ENSP00000346694:E133Q	E	-	1	0	HNRNPA2B1	26203066	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	3.862000	0.56009	1.579000	0.49836	0.650000	0.86243	GAG		0.383	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214109.1		NM_002137		43	90	0	0	0	1	0	43	90		
HNRNPA2B1	3181	broad.mit.edu	37	7	26240221	26240221	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:26240221G>C	ENST00000354667.4	-	0	145				CBX3_ENST00000396386.2_5'Flank|CBX3_ENST00000409747.1_5'Flank|HNRNPA2B1_ENST00000356674.7_De_novo_Start_OutOfFrame|CBX3_ENST00000337620.4_5'Flank	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1						gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						GCTTCAGCCCGATTTCCCGCA	0.577			T	ETV1	prostate																																	uc003sxr.3		NaN		Dom	yes		7	7p15	3181	T	heterogeneous nuclear ribonucleoprotein A2/B1			E	ETV1		prostate		0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(-25--21)ATCGG>ATGGG		heterogeneous nuclear ribonucleoprotein A2/B1							93.0	99.0	97.0					7																	26240221		2203	4300	6503			3181				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding	g.chr7:26240221G>C	D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"""RNA binding motif (RRM) containing"""	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.-24C>G	7.37:g.26240221G>C						HNRNPA2B1_uc003sxs.3_Translation_Start_Site|CBX3_uc003sxt.2_5'Flank|CBX3_uc003sxu.2_5'Flank|CBX3_uc003sxv.2_5'Flank		NM_031243	NP_112533	P22626	ROA2_HUMAN			1	193	-								A8K064|P22627|Q9UC98|Q9UDJ2	Translation_Start_Site	SNP	ENST00000354667.4	37	c.-23C>G	CCDS43557.1																																																																																				0.577	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214109.1		NM_002137		48	166	0	0	0	1	0	48	166		
CHN2	1124	broad.mit.edu	37	7	29440222	29440222	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:29440222G>C	ENST00000222792.6	+	6	884	c.354G>C	c.(352-354)aaG>aaC	p.K118N	CHN2_ENST00000495789.2_Missense_Mutation_p.K131N|CHN2_ENST00000539406.1_Missense_Mutation_p.K193N|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000546235.1_Missense_Mutation_p.K103N|CHN2_ENST00000539389.1_Intron	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	118	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TGGGTGAGAAGAGGTTTGAGT	0.448																																					Ovarian(1;44 48 13232 18918 31480)	uc003szz.2		NaN																	0				ovary(2)	2						c.(352-354)AAG>AAC		beta chimerin isoform 2							111.0	104.0	106.0					7																	29440222		2203	4300	6503	SO:0001583	missense	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29440222G>C	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.354G>C	7.37:g.29440222G>C	ENSP00000222792:p.Lys118Asn					CHN2_uc011jzs.1_Missense_Mutation_p.K193N|CHN2_uc010kva.2_Intron|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Missense_Mutation_p.K83N|CHN2_uc011jzt.1_Missense_Mutation_p.K131N|CHN2_uc010kvd.2_Intron|CHN2_uc011jzu.1_Missense_Mutation_p.K103N	p.K118N	NM_004067	NP_004058	P52757	CHIO_HUMAN			6	791	+			118			SH2.		A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	c.354G>C	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898020	0.72639	.	.	ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000409350;ENST00000495789;ENST00000546235	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	6.17	4.34	0.51931	SH2 motif (4);	0.047164	0.85682	D	0.000000	T	0.70631	0.3246	L	0.54908	1.71	0.80722	D	1	D;B;P;B;B	0.76494	0.999;0.121;0.859;0.051;0.031	D;B;B;B;B	0.87578	0.998;0.069;0.189;0.028;0.038	T	0.69764	-0.5057	9	.	.	.	.	7.6389	0.28282	0.1762:0.1297:0.6942:0.0	.	103;131;193;118;118	B7Z1W9;B7Z1V0;F5H003;A4D1A2;P52757	.;.;.;.;CHIO_HUMAN	N	193;118;131;131;103	ENSP00000444063:K193N;ENSP00000222792:K118N;ENSP00000386968:K131N;ENSP00000438587:K131N;ENSP00000442812:K103N	.	K	+	3	2	CHN2	29406747	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.867000	0.56047	1.604000	0.50143	0.655000	0.94253	AAG		0.448	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2		NM_004067		24	65	0	0	0	1	0	24	65		
GHRHR	2692	broad.mit.edu	37	7	31013635	31013635	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:31013635C>T	ENST00000326139.2	+	7	679	c.633C>T	c.(631-633)ttC>ttT	p.F211F	GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000409904.3_Silent_p.F147F	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	211					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	CCTCCCATTTCGCCACCATGA	0.627																																						uc003tbx.2		NaN																	0				ovary(2)|lung(1)|breast(1)|large_intestine(1)	5						c.(631-633)TTC>TTT		growth hormone releasing hormone receptor	Sermorelin(DB00010)						74.0	72.0	72.0					7																	31013635		2203	4300	6503	SO:0001819	synonymous_variant	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31013635C>T		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.633C>T	7.37:g.31013635C>T						GHRHR_uc003tbw.1_Silent_p.F211F|GHRHR_uc003tby.2_Silent_p.F147F|GHRHR_uc003tbz.2_Intron	p.F211F	NM_000823	NP_000814	Q02643	GHRHR_HUMAN			7	681	+			211			Helical; Name=3; (Potential).		Q99863	Silent	SNP	ENST00000326139.2	37	c.633C>T	CCDS5432.1																																																																																				0.627	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2				40	85	0	0	0	1	0	40	85		
ADCYAP1R1	117	broad.mit.edu	37	7	31126105	31126105	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:31126105C>T	ENST00000304166.4	+	10	1066	c.777C>T	c.(775-777)ttC>ttT	p.F259F	ADCYAP1R1_ENST00000396211.2_Silent_p.F259F|ADCYAP1R1_ENST00000409489.1_Silent_p.F259F|ADCYAP1R1_ENST00000409363.1_Silent_p.F238F	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	259					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TGGAGACCTTCTTCCCTGAAA	0.532																																					Ovarian(44;225 1186 2158 11092)	uc003tca.1		NaN																	0				ovary(1)	1						c.(775-777)TTC>TTT		adenylate cyclase activating polypeptide 1							197.0	156.0	170.0					7																	31126105		2203	4300	6503	SO:0001819	synonymous_variant	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31126105C>T		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.777C>T	7.37:g.31126105C>T						ADCYAP1R1_uc003tcb.1_Silent_p.F238F|ADCYAP1R1_uc003tcc.1_Silent_p.F259F|ADCYAP1R1_uc003tcd.1_Silent_p.F259F|ADCYAP1R1_uc003tce.1_Silent_p.F259F|ADCYAP1R1_uc003tcf.1_5'Flank	p.F259F	NM_001118	NP_001109	P41586	PACR_HUMAN			10	1000	+			259			Cytoplasmic (Potential).		A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Silent	SNP	ENST00000304166.4	37	c.777C>T	CCDS5433.1																																																																																				0.532	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3		NM_001118		9	48	0	0	0	1	0	9	48		
KBTBD2	25948	broad.mit.edu	37	7	32914744	32914744	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:32914744C>T	ENST00000304056.4	-	3	895	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	KBTBD2_ENST00000485611.1_5'UTR|AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	66	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TGTTTGCTTTCACTTAGTCCA	0.393																																						uc003tdb.2		NaN																	0					0						c.(196-198)GAA>AAA		kelch repeat and BTB (POZ) domain containing 2							258.0	212.0	227.0					7																	32914744		2203	4300	6503	SO:0001583	missense	25948							g.chr7:32914744C>T	AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"""BTB/POZ domain containing"""	21751	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 1"""	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.196G>A	7.37:g.32914744C>T	ENSP00000302586:p.Glu66Lys					AVL9_uc011kai.1_Intron	p.E66K	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	GBM - Glioblastoma multiforme(11;0.0499)		3	855	-			66			BTB.		A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Missense_Mutation	SNP	ENST00000304056.4	37	c.196G>A	CCDS34614.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687271	0.88639	.	.	ENSG00000170852	ENST00000304056	T	0.75154	-0.91	5.61	5.61	0.85477	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.88983	0.6586	M	0.89353	3.025	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.90470	0.4452	10	0.87932	D	0	.	19.6236	0.95670	0.0:1.0:0.0:0.0	.	66	Q8IY47	KBTB2_HUMAN	K	66	ENSP00000302586:E66K	ENSP00000302586:E66K	E	-	1	0	KBTBD2	32881269	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.721000	0.84768	2.636000	0.89361	0.585000	0.79938	GAA		0.393	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328890.1		XM_291224		35	142	0	0	0	1	0	35	142		
ELMO1	9844	broad.mit.edu	37	7	37298857	37298857	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:37298857G>A	ENST00000310758.4	-	6	989	c.342C>T	c.(340-342)gtC>gtT	p.V114V	ELMO1_ENST00000448602.1_Silent_p.V114V|ELMO1_ENST00000442504.1_Silent_p.V114V	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	114					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGGCAAACGTGACATCCCGGG	0.547																																						uc003tfk.1		NaN																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(340-342)GTC>GTT		engulfment and cell motility 1 isoform 1							62.0	57.0	58.0					7																	37298857		2203	4300	6503	SO:0001819	synonymous_variant	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37298857G>A	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.342C>T	7.37:g.37298857G>A						ELMO1_uc011kbc.1_Silent_p.V18V|ELMO1_uc010kxg.1_Silent_p.V114V	p.V114V	NM_014800	NP_055615	Q92556	ELMO1_HUMAN			6	649	-			114					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	ENST00000310758.4	37	c.342C>T	CCDS5449.1																																																																																				0.547	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4		NM_130442		11	40	0	0	0	1	0	11	40		
CAMK2B	816	broad.mit.edu	37	7	44364973	44364973	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:44364973G>C	ENST00000395749.2	-	1	124	c.48C>G	c.(46-48)ctC>ctG	p.L16L	CAMK2B_ENST00000358707.3_Silent_p.L16L|CAMK2B_ENST00000440254.2_Silent_p.L16L|CAMK2B_ENST00000502837.2_5'UTR|CAMK2B_ENST00000395747.2_Silent_p.L16L|CAMK2B_ENST00000457475.1_Silent_p.L16L|CAMK2B_ENST00000258682.6_Silent_p.L16L|CAMK2B_ENST00000350811.3_Silent_p.L16L|CAMK2B_ENST00000346990.4_Silent_p.L16L|CAMK2B_ENST00000347193.4_Silent_p.L16L|CAMK2B_ENST00000353625.4_Silent_p.L16L	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	16	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						TATCCTCGTAGAGCTGGTACT	0.756																																						uc003tkq.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(46-48)CTC>CTG		calcium/calmodulin-dependent protein kinase II							15.0	15.0	15.0					7																	44364973		2198	4292	6490	SO:0001819	synonymous_variant	816				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr7:44364973G>C	U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.48C>G	7.37:g.44364973G>C						CAMK2B_uc003tkp.2_Silent_p.L16L|CAMK2B_uc003tkx.2_Silent_p.L16L|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Silent_p.L16L|CAMK2B_uc003tks.2_Silent_p.L16L|CAMK2B_uc003tku.2_Silent_p.L16L|CAMK2B_uc003tkv.2_Silent_p.L16L|CAMK2B_uc003tkt.2_Silent_p.L16L|CAMK2B_uc003tkw.2_Silent_p.L16L|CAMK2B_uc010kyc.2_Silent_p.L16L	p.L16L	NM_001220	NP_001211	Q13554	KCC2B_HUMAN			1	258	-			16			Protein kinase.		A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Silent	SNP	ENST00000395749.2	37	c.48C>G	CCDS5483.1																																																																																				0.756	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2		NM_172084		6	10	0	0	0	1	0	6	10		
NPC1L1	29881	broad.mit.edu	37	7	44576463	44576463	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:44576463G>T	ENST00000289547.4	-	3	1714	c.1659C>A	c.(1657-1659)ttC>ttA	p.F553L	NPC1L1_ENST00000423141.1_Missense_Mutation_p.F553L|NPC1L1_ENST00000381160.3_Missense_Mutation_p.F553L|NPC1L1_ENST00000546276.1_Missense_Mutation_p.F553L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	553					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CAATGGCAAGGAAGGGGAAGA	0.597																																						uc003tlb.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1657-1659)TTC>TTA		Niemann-Pick C1-like protein 1 isoform 1	Ezetimibe(DB00973)						53.0	52.0	53.0					7																	44576463		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44576463G>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1659C>A	7.37:g.44576463G>T	ENSP00000289547:p.Phe553Leu					NPC1L1_uc003tlc.2_Missense_Mutation_p.F553L|NPC1L1_uc011kbw.1_Missense_Mutation_p.F553L|NPC1L1_uc003tld.2_Missense_Mutation_p.F553L	p.F553L	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			3	1715	-			553			Extracellular (Potential).		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.1659C>A	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	g	16.04	3.009677	0.54361	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8	4.94	2.1	0.27182	.	0.000000	0.85682	D	0.000000	D	0.93200	0.7834	M	0.80982	2.52	0.42638	D	0.993407	P;D;P;D	0.89917	0.65;1.0;0.643;0.991	B;D;B;P	0.85130	0.306;0.997;0.306;0.777	D	0.90406	0.4406	10	0.10636	T	0.68	-40.0356	8.9088	0.35541	0.2602:0.0:0.7398:0.0	.	553;553;553;553	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	L	553	ENSP00000289547:F553L;ENSP00000370552:F553L;ENSP00000438033:F553L;ENSP00000404670:F553L	ENSP00000289547:F553L	F	-	3	2	NPC1L1	44542988	1.000000	0.71417	0.948000	0.38648	0.891000	0.51852	2.626000	0.46460	0.498000	0.27948	0.457000	0.33378	TTC		0.597	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1		NM_013389		23	62	1	0	1.9806e-07	1	2.0496e-07	23	62		
ABCA13	154664	broad.mit.edu	37	7	48273724	48273724	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:48273724G>A	ENST00000435803.1	+	8	897	c.873G>A	c.(871-873)ctG>ctA	p.L291L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	291					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AACAGATCCTGAACTCTTCAG	0.502																																						uc003toq.2		NaN																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(871-873)CTG>CTA		ATP binding cassette, sub-family A (ABC1),							136.0	135.0	135.0					7																	48273724		2044	4202	6246	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48273724G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.873G>A	7.37:g.48273724G>A						ABCA13_uc010kyr.2_5'UTR	p.L291L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			8	898	+			291					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.873G>A	CCDS47584.1																																																																																				0.502	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701		26	78	0	0	0	1	0	26	78		
EGFR	1956	broad.mit.edu	37	7	55270282	55270282	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:55270282G>A	ENST00000275493.2	+	27	3412	c.3235G>A	c.(3235-3237)Gag>Aag	p.E1079K	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.E1026K|EGFR_ENST00000455089.1_Missense_Mutation_p.E1034K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1079					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CGCCTTGACTGAGGACAGCAT	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0				lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(3235-3237)GAG>AAG		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						131.0	92.0	105.0					7																	55270282		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55270282G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.3235G>A	7.37:g.55270282G>A	ENSP00000275493:p.Glu1079Lys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_Missense_Mutation_p.E1034K|EGFR_uc011kco.1_Missense_Mutation_p.E1026K	p.E1079K	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		27	3481	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		1079			Cytoplasmic (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.3235G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441034	0.63067	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.75589	-0.86;-0.95;-0.94	5.67	5.67	0.87782	.	0.047415	0.85682	D	0.000000	T	0.77896	0.4199	M	0.78049	2.395	0.43936	D	0.996596	P;B	0.45594	0.862;0.07	B;B	0.41917	0.37;0.046	T	0.81169	-0.1055	10	0.56958	D	0.05	.	18.3247	0.90250	0.0:0.0:1.0:0.0	.	1034;1079	Q504U8;P00533	.;EGFR_HUMAN	K	1034;949;1079;1026	ENSP00000415559:E1034K;ENSP00000275493:E1079K;ENSP00000395243:E1026K	ENSP00000275493:E1079K	E	+	1	0	EGFR	55237776	1.000000	0.71417	0.910000	0.35882	0.792000	0.44763	6.107000	0.71517	2.655000	0.90218	0.650000	0.86243	GAG		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2		NM_005228		8	18	0	0	0	1	0	8	18		
ZNF107	51427	broad.mit.edu	37	7	64168318	64168318	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:64168318C>T	ENST00000395391.1	+	4	3011	c.1636C>T	c.(1636-1638)Cat>Tat	p.H546Y	ZNF107_ENST00000423627.1_Missense_Mutation_p.H546Y|ZNF107_ENST00000344930.3_Missense_Mutation_p.H546Y			Q9UII5	ZN107_HUMAN	zinc finger protein 107	546					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TAAAATTATTCATACTGGAGA	0.348																																						uc003ttd.2		NaN																	0				ovary(1)	1						c.(1636-1638)CAT>TAT		zinc finger protein 107							38.0	41.0	40.0					7																	64168318		2202	4287	6489	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64168318C>T	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1636C>T	7.37:g.64168318C>T	ENSP00000378789:p.His546Tyr					ZNF107_uc003tte.2_Missense_Mutation_p.H546Y	p.H546Y	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN			7	2422	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	546			C2H2-type 17; atypical.			Missense_Mutation	SNP	ENST00000395391.1	37	c.1636C>T	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	11.66	1.704813	0.30232	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.28895	1.59;1.59;1.59	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51346	0.1669	M	0.83692	2.655	0.27326	N	0.956907	D	0.67145	0.996	D	0.63703	0.917	T	0.37267	-0.9713	8	.	.	.	.	7.9559	0.30042	0.0:1.0:0.0:0.0	.	546	Q9UII5	ZN107_HUMAN	Y	546	ENSP00000343443:H546Y;ENSP00000400037:H546Y;ENSP00000378789:H546Y	.	H	+	1	0	ZNF107	63805753	1.000000	0.71417	0.366000	0.25914	0.066000	0.16364	5.348000	0.66004	0.635000	0.30488	0.313000	0.20887	CAT		0.348	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1		NM_016220		11	35	0	0	0	1	0	11	35		
SBDS	51119	broad.mit.edu	37	7	66453431	66453431	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:66453431T>C	ENST00000246868.2	-	5	863	c.680A>G	c.(679-681)gAa>gGa	p.E227G		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	227					bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						GCCTTTAGTTTCCTTTTTTAT	0.388			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome																													uc003tvm.1		NaN	yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Gene Conversion	Shwachman-Bodian-Diamond syndrome protein			L		AML|MDS			0				ovary(1)	1						c.(679-681)GAA>GGA		Shwachman-Bodian-Diamond syndrome protein							147.0	134.0	138.0					7																	66453431		2203	4300	6503	SO:0001583	missense	51119	Shwachman-Diamond_syndrome	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding	g.chr7:66453431T>C	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.680A>G	7.37:g.66453431T>C	ENSP00000246868:p.Glu227Gly						p.E227G	NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN			5	864	-			227					A8K0P4|Q96FX0|Q9NV53	Missense_Mutation	SNP	ENST00000246868.2	37	c.680A>G	CCDS5537.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.866883	0.91511	.	.	ENSG00000126524	ENST00000246868	D	0.96802	-4.13	5.05	5.05	0.67936	Ribosome maturation protein SBDS, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98185	0.9400	M	0.93638	3.44	0.80722	D	1	P	0.48162	0.906	D	0.63192	0.912	D	0.98370	1.0553	10	0.25751	T	0.34	-28.6087	12.7954	0.57556	0.0:0.0:0.0:1.0	.	227	Q9Y3A5	SBDS_HUMAN	G	227	ENSP00000246868:E227G	ENSP00000246868:E227G	E	-	2	0	SBDS	66090866	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.082000	0.76851	2.134000	0.65973	0.455000	0.32223	GAA		0.388	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251746.2		NM_016038		16	48	0	0	0	1	0	16	48		
CACNA2D1	781	broad.mit.edu	37	7	81600022	81600022	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:81600022C>G	ENST00000356253.5	-	27	2464	c.2209G>C	c.(2209-2211)Gat>Cat	p.D737H	CACNA2D1_ENST00000535308.1_5'UTR|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.D725H			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	737					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ATCCCACCATCAGTCACAACA	0.353																																						uc003uhr.1		NaN																	0				ovary(5)|pancreas(1)	6						c.(2173-2175)GAT>CAT		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						146.0	141.0	142.0					7																	81600022		2203	4299	6502	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81600022C>G	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2209G>C	7.37:g.81600022C>G	ENSP00000348589:p.Asp737His					CACNA2D1_uc011kgy.1_5'UTR	p.D725H	NM_000722	NP_000713	P54289	CA2D1_HUMAN			27	2429	-			737			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.2173G>C		.	.	.	.	.	.	.	.	.	.	C	23.6	4.433811	0.83776	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	T;T	0.72835	-0.69;-0.69	5.54	5.54	0.83059	.	0.113703	0.64402	D	0.000016	D	0.83524	0.5273	M	0.74258	2.255	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	T	0.81156	-0.1061	10	0.31617	T	0.26	-24.0121	19.1021	0.93277	0.0:1.0:0.0:0.0	.	725	P54289-2	.	H	725;744;737	ENSP00000349320:D725H;ENSP00000348589:D737H	ENSP00000284088:D744H	D	-	1	0	CACNA2D1	81437958	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.402000	0.79972	2.607000	0.88179	0.585000	0.79938	GAT		0.353	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding					12	73	0	0	0	1	0	12	73		
STEAP1	26872	broad.mit.edu	37	7	89790200	89790200	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:89790200G>C	ENST00000297205.2	+	3	366	c.166G>C	c.(166-168)Gac>Cac	p.D56H	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	56					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					TGATGAATTTGACTGCCCTTC	0.423																																						uc003ujx.2		NaN																	0					0						c.(166-168)GAC>CAC		six transmembrane epithelial antigen of the							130.0	127.0	128.0					7																	89790200		2203	4300	6503	SO:0001583	missense	26872				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:89790200G>C	AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"""Serine peptidases / Serine peptidases"""	11378	protein-coding gene	gene with protein product		604415	"""six transmembrane epithelial antigen of the prostate"""	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.166G>C	7.37:g.89790200G>C	ENSP00000297205:p.Asp56His					STEAP1_uc010lem.2_Missense_Mutation_p.D56H	p.D56H	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN			3	366	+	all_hematologic(106;0.112)		56					A4D1E0|O95034	Missense_Mutation	SNP	ENST00000297205.2	37	c.166G>C	CCDS5614.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392027	0.62066	.	.	ENSG00000164647	ENST00000297205	T	0.08896	3.04	5.02	5.02	0.67125	.	0.412552	0.22954	N	0.053626	T	0.27278	0.0669	M	0.83483	2.645	0.44439	D	0.997366	D;D	0.62365	0.966;0.991	P;P	0.54401	0.707;0.751	T	0.05241	-1.0897	10	0.72032	D	0.01	-3.7412	18.5232	0.90962	0.0:0.0:1.0:0.0	.	56;56	B4E221;Q9UHE8	.;STEA1_HUMAN	H	56	ENSP00000297205:D56H	ENSP00000297205:D56H	D	+	1	0	STEAP1	89628136	1.000000	0.71417	0.983000	0.44433	0.235000	0.25334	7.101000	0.76997	2.598000	0.87819	0.655000	0.94253	GAC		0.423	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059327.3		NM_012449		40	155	0	0	0	1	0	40	155		
SAMD9	54809	broad.mit.edu	37	7	92732279	92732279	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:92732279T>A	ENST00000379958.2	-	3	3401	c.3132A>T	c.(3130-3132)gaA>gaT	p.E1044D		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1044						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGTTTCACCTTCATGTTCAT	0.378																																						uc003umf.2		NaN																	0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(3130-3132)GAA>GAT		sterile alpha motif domain containing 9							110.0	99.0	103.0					7																	92732279		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92732279T>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3132A>T	7.37:g.92732279T>A	ENSP00000369292:p.Glu1044Asp					SAMD9_uc003umg.2_Missense_Mutation_p.E1044D	p.E1044D	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	3388	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1044					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.3132A>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	5.619	0.298940	0.10622	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.23950	1.88;2.69	4.65	-0.685	0.11328	.	0.257038	0.29459	N	0.012094	T	0.11665	0.0284	L	0.36672	1.1	0.22796	N	0.998725	P	0.43477	0.808	B	0.30855	0.121	T	0.21484	-1.0244	10	0.46703	T	0.11	-15.4014	3.6701	0.08270	0.358:0.1707:0.0:0.4713	.	1044	Q5K651	SAMD9_HUMAN	D	1044	ENSP00000369292:E1044D;ENSP00000414529:E1044D	ENSP00000369292:E1044D	E	-	3	2	SAMD9	92570215	0.001000	0.12720	0.987000	0.45799	0.417000	0.31264	-1.061000	0.03472	0.287000	0.22375	0.418000	0.28097	GAA		0.378	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1		NM_017654		19	35	0	0	0	1	0	19	35		
TFPI2	7980	broad.mit.edu	37	7	93516176	93516176	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:93516176G>A	ENST00000222543.5	-	5	976	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Missense_Mutation_p.R111C	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		11	52	0	0	0	1	0	11	52		
PEG10	23089	broad.mit.edu	37	7	94293511	94293511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:94293511C>T	ENST00000482108.1	+	2	1122	c.643C>T	c.(643-645)Cag>Tag	p.Q215*	PEG10_ENST00000488574.1_Nonsense_Mutation_p.Q215*	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	215	Necessary for interaction with ALK1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CGACCACATTCAGGAGGAGCT	0.582																																						uc011kie.1		NaN																	0				central_nervous_system(1)	1						c.(871-873)CAG>TAG		paternally expressed 10 isoform RF1							99.0	107.0	104.0					7																	94293511		2107	4210	6317	SO:0001587	stop_gained	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94293511C>T	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.643C>T	7.37:g.94293511C>T	ENSP00000417587:p.Gln215*						p.Q291*	NM_001040152	NP_001035242	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	1088	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		215			Necessary for interaction with ALK1.		Q96A68|Q9UPV1	Nonsense_Mutation	SNP	ENST00000482108.1	37	c.871C>T	CCDS55126.1	.	.	.	.	.	.	.	.	.	.	C	38	7.101559	0.98063	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	.	.	.	4.05	4.05	0.47172	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3744	0.38275	0.2134:0.7866:0.0:0.0	.	.	.	.	X	215	.	ENSP00000417587:Q215X	Q	+	1	0	PEG10	94131447	0.861000	0.29849	0.928000	0.36995	0.943000	0.58893	1.480000	0.35464	2.276000	0.75962	0.555000	0.69702	CAG		0.582	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1		NM_015068		38	131	0	0	0	1	0	38	131		
PON1	5444	broad.mit.edu	37	7	94935662	94935662	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:94935662C>G	ENST00000222381.3	-	7	946	c.715G>C	c.(715-717)Gag>Cag	p.E239Q	PON1_ENST00000542556.1_Missense_Mutation_p.E239Q	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	239					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	GCCAGCAACTCAGCTATATAG	0.353																																					GBM(119;715 1622 17358 22490 33240)	uc003uns.2		NaN																	0				pancreas(1)	1						c.(715-717)GAG>CAG		paraoxonase 1 precursor	Atorvastatin(DB01076)|Cefazolin(DB01327)						135.0	131.0	133.0					7																	94935662		2203	4300	6503	SO:0001583	missense	5444				aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	g.chr7:94935662C>G	AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"""Paraoxonases"""	9204	protein-coding gene	gene with protein product	"""esterase A"", ""arylesterase 1"""	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.715G>C	7.37:g.94935662C>G	ENSP00000222381:p.Glu239Gln					PON1_uc011kih.1_Missense_Mutation_p.E239Q	p.E239Q	NM_000446	NP_000437	P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		7	812	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		239					B2RA40|Q16052|Q6B0J6|Q9UCB1	Missense_Mutation	SNP	ENST00000222381.3	37	c.715G>C	CCDS5638.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809797	0.70797	.	.	ENSG00000005421	ENST00000222381;ENST00000542556	T;T	0.46063	0.88;0.88	4.95	4.95	0.65309	Six-bladed beta-propeller, TolB-like (1);	0.091974	0.64402	D	0.000001	T	0.46425	0.1392	L	0.58925	1.835	0.41580	D	0.988737	P;P	0.41910	0.764;0.587	B;B	0.41619	0.361;0.357	T	0.53373	-0.8448	10	0.66056	D	0.02	-28.0649	18.7457	0.91792	0.0:1.0:0.0:0.0	.	239;239	F5H4W9;P27169	.;PON1_HUMAN	Q	239	ENSP00000222381:E239Q;ENSP00000444854:E239Q	ENSP00000222381:E239Q	E	-	1	0	PON1	94773598	1.000000	0.71417	0.988000	0.46212	0.939000	0.58152	5.190000	0.65104	2.729000	0.93468	0.561000	0.74099	GAG		0.353	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2		NM_000446		20	64	0	0	0	1	0	20	64		
TRRAP	8295	broad.mit.edu	37	7	98533223	98533223	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:98533223G>A	ENST00000359863.4	+	28	4245	c.4036G>A	c.(4036-4038)Gaa>Aaa	p.E1346K	TRRAP_ENST00000446306.3_Missense_Mutation_p.E1345K|TRRAP_ENST00000355540.3_Missense_Mutation_p.E1346K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1346					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTGTGAGGCTGAAGATTCAGC	0.388																																						uc003upp.2		NaN																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(4036-4038)GAA>AAA		transformation/transcription domain-associated							103.0	98.0	100.0					7																	98533223		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98533223G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.4036G>A	7.37:g.98533223G>A	ENSP00000352925:p.Glu1346Lys					TRRAP_uc011kis.1_Missense_Mutation_p.E1346K|TRRAP_uc003upr.2_Missense_Mutation_p.E1038K	p.E1346K	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		28	4245	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1346					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.4036G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	37	5.992059	0.97179	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.03831	3.79;3.79	6.17	6.17	0.99709	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.22704	0.0548	M	0.77103	2.36	0.80722	D	1	D;D;D	0.63880	0.993;0.967;0.983	P;P;P	0.60886	0.88;0.582;0.748	T	0.00007	-1.2493	10	0.66056	D	0.02	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1346;1060;1346	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	K	1346;1346;1344	ENSP00000352925:E1346K;ENSP00000347733:E1346K	ENSP00000347733:E1346K	E	+	1	0	TRRAP	98371159	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.619000	0.98369	2.941000	0.99782	0.655000	0.94253	GAA		0.388	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1		NM_003496		7	30	0	0	0	1	0	7	30		
PDAP1	11333	broad.mit.edu	37	7	99002548	99002548	+	Silent	SNP	C	C	T	rs139029496		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:99002548C>T	ENST00000350498.3	-	2	322	c.42G>A	c.(40-42)gcG>gcA	p.A14A		NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	14					cell proliferation (GO:0008283)|signal transduction (GO:0007165)		poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TATACTGCCTCGCCCGGCCTT	0.632																																						uc003uqe.2		NaN																	0					0						c.(40-42)GCG>GCA		PDGFA associated protein 1	Becaplermin(DB00102)	C		2,4404	4.2+/-10.8	0,2,2201	85.0	70.0	75.0		42	-4.6	1.0	7	dbSNP_134	75	0,8600		0,0,4300	no	coding-synonymous	PDAP1	NM_014891.6		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		14/182	99002548	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	11333				cell proliferation|signal transduction			g.chr7:99002548C>T	U41745	CCDS5662.1	7q	2008-07-18			ENSG00000106244	ENSG00000106244			14634	protein-coding gene	gene with protein product	"""PDGF associated protein"""	607075				8780057	Standard	NM_014891		Approved	PAP1, PAP, HASPP28	uc003uqe.3	Q13442	OTTHUMG00000154629	ENST00000350498.3:c.42G>A	7.37:g.99002548C>T							p.A14A	NM_014891	NP_055706	Q13442	HAP28_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		2	163	-	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		14					D6W5S5|Q92906	Silent	SNP	ENST00000350498.3	37	c.42G>A	CCDS5662.1																																																																																				0.632	PDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336388.2		NM_014891		15	62	0	0	0	1	0	15	62		
BUD31	8896	broad.mit.edu	37	7	99013816	99013816	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:99013816C>G	ENST00000403633.2	+	4	679	c.150C>G	c.(148-150)ttC>ttG	p.F50L	BUD31_ENST00000431419.1_Missense_Mutation_p.F21L|BUD31_ENST00000456893.1_Intron|BUD31_ENST00000222969.5_Missense_Mutation_p.F50L|snoU13_ENST00000458831.1_RNA			P41223	BUD31_HUMAN	BUD31 homolog (S. cerevisiae)	50					regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	4	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GGCCCATCTTCAGGATCCACC	0.493																																						uc003uqf.2		NaN																	0				ovary(1)	1						c.(148-150)TTC>TTG		G10 protein							146.0	129.0	134.0					7																	99013816		2203	4300	6503	SO:0001583	missense	8896				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr7:99013816C>G	BC022821	CCDS5663.1	7q22.1	2012-06-07	2007-01-12	2006-03-16	ENSG00000106245	ENSG00000106245			29629	protein-coding gene	gene with protein product	"""G10 maternal transcript homolog (Xenopus laevis)"", ""functional spliceosome-associated protein 17"""	603477	"""BUD31 homolog (yeast)"""			7841202	Standard	NM_003910		Approved	YCR063W, EDG-2, EDG2, G10, fSAP17, Cwc14	uc003uqg.4	P41223	OTTHUMG00000154602	ENST00000403633.2:c.150C>G	7.37:g.99013816C>G	ENSP00000386023:p.Phe50Leu					BUD31_uc011kiu.1_Missense_Mutation_p.F50L|BUD31_uc011kiv.1_Missense_Mutation_p.F50L|BUD31_uc003uqg.3_Missense_Mutation_p.F50L	p.F50L	NM_003910	NP_003901	P41223	BUD31_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	351	+	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		50					A4D274|B7Z4S9|D6W5S6|Q6IB53|Q9UDV1	Missense_Mutation	SNP	ENST00000403633.2	37	c.150C>G	CCDS5663.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577580	0.86645	.	.	ENSG00000106245	ENST00000403633;ENST00000222969;ENST00000431419	.	.	.	5.78	3.98	0.46160	.	0.000000	0.85682	D	0.000000	T	0.69878	0.3160	M	0.84433	2.695	0.80722	D	1	P;B	0.36354	0.549;0.087	B;B	0.42214	0.38;0.344	T	0.72134	-0.4382	9	0.59425	D	0.04	-27.7648	12.5473	0.56208	0.0:0.8655:0.0:0.1345	.	50;50	B7Z4S9;P41223	.;BUD31_HUMAN	L	50;50;21	.	ENSP00000222969:F50L	F	+	3	2	BUD31	98851752	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.714000	0.68422	0.805000	0.34159	0.650000	0.86243	TTC		0.493	BUD31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336275.1		NM_003910		30	79	0	0	0	1	0	30	79		
CPSF4	10898	broad.mit.edu	37	7	99050001	99050001	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:99050001G>C	ENST00000292476.5	+	6	518	c.508G>C	c.(508-510)Gaa>Caa	p.E170Q	ATP5J2-PTCD1_ENST00000437572.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000471455.1_3'UTR|CPSF4_ENST00000451876.1_Missense_Mutation_p.E138Q|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000436336.2_Missense_Mutation_p.E170Q|CPSF4_ENST00000441580.1_Missense_Mutation_p.E117Q|ATP5J2_ENST00000466753.1_Intron			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	170					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCCTCGATTTGAACTGCCCAT	0.592																																						uc003uqj.2		NaN																	0				central_nervous_system(1)	1						c.(508-510)GAA>CAA		cleavage and polyadenylation specific factor 4,							138.0	141.0	140.0					7																	99050001		2203	4300	6503	SO:0001583	missense	10898				modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding	g.chr7:99050001G>C		CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"""cleavage and polyadenylation specific factor 4, 30kD subunit"""			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.508G>C	7.37:g.99050001G>C	ENSP00000292476:p.Glu170Gln					PTCD1_uc011kiw.1_Intron|CPSF4_uc003uqi.2_Missense_Mutation_p.E170Q|CPSF4_uc003uqk.2_Missense_Mutation_p.E170Q|CPSF4_uc011kix.1_Missense_Mutation_p.E117Q	p.E170Q	NM_006693	NP_006684	O95639	CPSF4_HUMAN			6	651	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		170					D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Missense_Mutation	SNP	ENST00000292476.5	37	c.508G>C	CCDS5664.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	27.8|27.8|27.8	4.867008|4.867008|4.867008	0.91511|0.91511|0.91511	.|.|.	.|.|.	ENSG00000160917|ENSG00000160917|ENSG00000160917	ENST00000436336;ENST00000451876;ENST00000292476;ENST00000441580|ENST00000452047|ENST00000440514	T;T;T;T|T|.	0.33216|0.33216|.	1.85;1.87;1.77;1.42|1.42|.	5.53|5.53|5.53	5.53|5.53|5.53	0.82687|0.82687|0.82687	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.60418|0.60418|.	0.2267|0.2267|.	L|L|L	0.32530|0.32530|0.32530	0.975|0.975|0.975	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;B;P;B|.|.	0.64830|.|.	0.994;0.363;0.638;0.363|.|.	P;B;B;B|.|.	0.60286|.|.	0.872;0.187;0.15;0.187|.|.	T|T|.	0.54029|0.54029|.	-0.8354|-0.8354|.	9|6|.	.|.|.	.|.|.	.|.|.	-15.9423|-15.9423|-15.9423	19.4582|19.4582|19.4582	0.94904|0.94904|0.94904	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	117;170;170;170|.|.	B7Z7B0;O95639-3;O95639;O95639-2|.|.	.;.;CPSF4_HUMAN;.|.|.	Q|F|S	170;138;170;117|105|51	ENSP00000395311:E170Q;ENSP00000396060:E138Q;ENSP00000292476:E170Q;ENSP00000402224:E117Q|ENSP00000392584:L105F|.	.|.|.	E|L|X	+|+|+	1|3|2	0|2|2	CPSF4|CPSF4|CPSF4	98887937|98887937|98887937	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.996000|0.996000|0.996000	0.88848|0.88848|0.88848	8.930000|8.930000|8.930000	0.92872|0.92872|0.92872	2.607000|2.607000|2.607000	0.88179|0.88179|0.88179	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|TTG|TGA		0.592	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1				71	243	0	0	0	1	0	71	243		
CYP3A43	64816	broad.mit.edu	37	7	99453289	99453289	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:99453289T>A	ENST00000354829.2	+	8	849	c.746T>A	c.(745-747)tTa>tAa	p.L249*	CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000417625.1_Nonsense_Mutation_p.L139*|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000312017.5_Nonsense_Mutation_p.L249*|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000222382.5_Nonsense_Mutation_p.L249*	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	249			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	ACCCATTTTTTAAAAAATTCC	0.313																																						uc003urx.1		NaN																	0				ovary(1)|skin(1)	2						c.(745-747)TTA>TAA		cytochrome P450, family 3, subfamily A,	Cetirizine(DB00341)|Doxycycline(DB00254)						51.0	49.0	50.0					7																	99453289		2201	4298	6499	SO:0001587	stop_gained	64816				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr7:99453289T>A	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.746T>A	7.37:g.99453289T>A	ENSP00000346887:p.Leu249*					CYP3A43_uc003ury.1_Nonsense_Mutation_p.L249*|CYP3A43_uc003urz.1_Nonsense_Mutation_p.L249*|CYP3A43_uc003usa.1_RNA|CYP3A43_uc010lgi.1_Nonsense_Mutation_p.L139*|CYP3A43_uc003usb.1_Intron	p.L249*	NM_057095	NP_476436	Q9HB55	CP343_HUMAN			8	849	+	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		249		Missing (in allele CYP3A43*2).			Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Nonsense_Mutation	SNP	ENST00000354829.2	37	c.746T>A	CCDS5676.1	.	.	.	.	.	.	.	.	.	.	T	36	5.862772	0.97036	.	.	ENSG00000021461	ENST00000354829;ENST00000417625;ENST00000312017;ENST00000222382	.	.	.	2.69	2.69	0.31865	.	0.161416	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	9.1105	0.36725	0.0:0.0:0.0:1.0	.	.	.	.	X	249;139;249;249	.	ENSP00000222382:L249X	L	+	2	0	CYP3A43	99291225	1.000000	0.71417	0.011000	0.14972	0.726000	0.41606	4.174000	0.58256	1.166000	0.42689	0.164000	0.16699	TTA		0.313	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1				7	17	0	0	0	1	0	7	17		
PILRB	29990	broad.mit.edu	37	7	99957061	99957061	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:99957061C>T	ENST00000452089.1	+	8	1615	c.556C>T	c.(556-558)Ctg>Ttg	p.L186L	PILRB_ENST00000609309.1_Silent_p.L186L|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000610247.1_Silent_p.L186L|PILRB_ENST00000444073.1_Silent_p.L186L|PILRB_ENST00000448382.1_Missense_Mutation_p.S238F			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	186					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCACCTAAGTCTGGACACTGC	0.562																																						uc003uuk.2		NaN																	0					0						c.(556-558)CTG>TTG		paired immunoglobulin-like type 2 receptor beta							113.0	124.0	120.0					7																	99957061		2203	4300	6503	SO:0001819	synonymous_variant	29990				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity	g.chr7:99957061C>T	AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"""Immunoglobulin superfamily / V-set domain containing"""	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.556C>T	7.37:g.99957061C>T						PILRB_uc003uul.2_Missense_Mutation_p.S116F|PILRB_uc003uun.2_Silent_p.L186L	p.L186L	NM_013440	NP_038468	Q9UKJ0	PILRB_HUMAN			17	3052	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		186			Extracellular (Potential).		Q69YF9|Q9HBS0	Silent	SNP	ENST00000452089.1	37	c.556C>T	CCDS43622.1	.	.	.	.	.	.	.	.	.	.	C	4.355	0.065445	0.08388	.	.	ENSG00000121716	ENST00000444874;ENST00000448382	.	.	.	2.32	-1.01	0.10169	.	.	.	.	.	T	0.17789	0.0427	.	.	.	0.09310	N	1	B	0.22541	0.071	B	0.26310	0.068	T	0.27502	-1.0072	6	.	.	.	.	0.9422	0.01358	0.2344:0.3801:0.2304:0.1551	.	116	Q9UKJ0-2	.	F	116;238	.	.	S	+	2	0	PILRB	99794997	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.373000	0.07494	-0.248000	0.09583	0.536000	0.68110	TCT		0.562	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339923.2		NM_178238		22	76	0	0	0	1	0	22	76		
NYAP1	222950	broad.mit.edu	37	7	100084635	100084635	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:100084635C>T	ENST00000300179.2	+	3	419	c.260C>T	c.(259-261)tCg>tTg	p.S87L	NYAP1_ENST00000423930.1_Missense_Mutation_p.S87L|NYAP1_ENST00000454988.1_Missense_Mutation_p.S30L	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	87	Involved in CYFIP1- and NCKAP1-binding. {ECO:0000250}.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TCCTGCCACTCGGTGGGCAGC	0.711																																						uc003uvd.1		NaN																	0				skin(1)	1						c.(259-261)TCG>TTG		hypothetical protein FLJ37538							13.0	16.0	15.0					7																	100084635		2158	4224	6382	SO:0001583	missense	222950							g.chr7:100084635C>T	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.260C>T	7.37:g.100084635C>T	ENSP00000300179:p.Ser87Leu					C7orf51_uc003uve.1_5'Flank	p.S87L	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN			3	419	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		87					Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.260C>T	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962671	0.92791	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.55413	0.52;0.52;0.52	5.55	4.62	0.57501	.	0.000000	0.44097	D	0.000494	T	0.60676	0.2287	M	0.67700	2.07	0.46609	D	0.999123	D	0.60575	0.988	P	0.51385	0.668	T	0.66260	-0.5968	10	0.87932	D	0	-9.92	13.586	0.61931	0.0:0.8429:0.1571:0.0	.	87	Q6ZVC0	CG051_HUMAN	L	87;87;30	ENSP00000300179:S87L;ENSP00000411861:S87L;ENSP00000394424:S30L	ENSP00000300179:S87L	S	+	2	0	C7orf51	99922571	0.998000	0.40836	0.957000	0.39632	0.988000	0.76386	3.992000	0.56980	2.606000	0.88127	0.462000	0.41574	TCG		0.711	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2		NM_173564		7	34	0	0	0	1	0	7	34		
NYAP1	222950	broad.mit.edu	37	7	100086600	100086600	+	Missense_Mutation	SNP	G	G	A	rs376633711		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:100086600G>A	ENST00000300179.2	+	4	1415	c.1256G>A	c.(1255-1257)cGg>cAg	p.R419Q	NYAP1_ENST00000423930.1_Missense_Mutation_p.R419Q|NYAP1_ENST00000454988.1_Missense_Mutation_p.R362Q	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	419	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GGCCAGCCCCGGGGGGAGCGG	0.766													G|||	1	0.000199681	0.0008	0.0	5008	,	,		11219	0.0		0.0	False		,,,				2504	0.0					uc003uvd.1		NaN																	0				skin(1)	1						c.(1255-1257)CGG>CAG		hypothetical protein FLJ37538		G	GLN/ARG	2,3800		0,2,1899	6.0	8.0	7.0		1256	3.3	1.0	7		7	0,7880		0,0,3940	no	missense	C7orf51	NM_173564.2	43	0,2,5839	AA,AG,GG		0.0,0.0526,0.0171	probably-damaging	419/842	100086600	2,11680	1901	3940	5841	SO:0001583	missense	222950							g.chr7:100086600G>A	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.1256G>A	7.37:g.100086600G>A	ENSP00000300179:p.Arg419Gln					C7orf51_uc003uve.1_Missense_Mutation_p.R201Q	p.R419Q	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN			4	1415	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		419			Pro-rich.		Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.1256G>A	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431688	0.62844	5.26E-4	0.0	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.31510	1.5;1.49;1.5	4.18	3.29	0.37713	.	0.196730	0.25264	N	0.031934	T	0.31482	0.0798	N	0.19112	0.55	0.37695	D	0.923993	D;P	0.67145	0.996;0.876	P;B	0.59221	0.854;0.292	T	0.17167	-1.0378	10	0.44086	T	0.13	-4.4013	9.3466	0.38111	0.106:0.0:0.8939:0.0	.	362;419	C9JS30;Q6ZVC0	.;CG051_HUMAN	Q	419;419;362	ENSP00000300179:R419Q;ENSP00000411861:R419Q;ENSP00000394424:R362Q	ENSP00000300179:R419Q	R	+	2	0	C7orf51	99924536	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	1.762000	0.38451	0.962000	0.38057	0.462000	0.41574	CGG		0.766	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2		NM_173564		6	31	0	0	0	1	0	6	31		
ACTL6B	51412	broad.mit.edu	37	7	100245112	100245112	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:100245112C>T	ENST00000160382.5	-	8	820	c.714G>A	c.(712-714)gaG>gaA	p.E238E		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	238					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGGGTAGCTTCTCCTTCTTCT	0.612																																						uc003uvy.2		NaN																	0				ovary(1)	1						c.(712-714)GAG>GAA		actin-like 6B							85.0	79.0	81.0					7																	100245112		2203	4300	6503	SO:0001819	synonymous_variant	51412				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton	g.chr7:100245112C>T	AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"""actin-like 6"""	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.714G>A	7.37:g.100245112C>T						ACTL6B_uc003uvx.1_Silent_p.E29E|ACTL6B_uc003uvz.2_RNA	p.E238E	NM_016188	NP_057272	O94805	ACL6B_HUMAN			8	821	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		238					A4D2D0|O75421	Silent	SNP	ENST00000160382.5	37	c.714G>A	CCDS5702.1																																																																																				0.612	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356745.1		NM_016188		27	99	0	0	0	1	0	27	99		
EPO	2056	broad.mit.edu	37	7	100320678	100320678	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:100320678C>G	ENST00000252723.2	+	5	685	c.504C>G	c.(502-504)ctC>ctG	p.L168L		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	168					aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein kinase activator activity (GO:0030295)			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCCGCAAACTCTTCCGAGTCT	0.567																																						uc003uwi.2		NaN																	0				central_nervous_system(2)	2						c.(502-504)CTC>CTG		erythropoietin precursor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						123.0	126.0	125.0					7																	100320678		2203	4300	6503	SO:0001819	synonymous_variant	2056				blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity	g.chr7:100320678C>G	X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427		"""Endogenous ligands"""	3415	protein-coding gene	gene with protein product		133170				9799793, 3838366	Standard	NM_000799		Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	ENST00000252723.2:c.504C>G	7.37:g.100320678C>G						EPO_uc011kkc.1_Silent_p.L167L	p.L168L	NM_000799	NP_000790	P01588	EPO_HUMAN			5	685	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		168					Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	Silent	SNP	ENST00000252723.2	37	c.504C>G	CCDS5705.1																																																																																				0.567	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325323.1		NM_000799		57	169	0	0	0	1	0	57	169		
PLOD3	8985	broad.mit.edu	37	7	100856159	100856159	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:100856159G>A	ENST00000223127.3	-	8	1241	c.843C>T	c.(841-843)ttC>ttT	p.F281F		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	281					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CCTGGTTGCAGAAGCCACAGC	0.647																																						uc003uyd.2		NaN																	0				ovary(1)|skin(1)	2						c.(841-843)TTC>TTT		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Succinic acid(DB00139)|Vitamin C(DB00126)						46.0	44.0	45.0					7																	100856159		2203	4300	6503	SO:0001819	synonymous_variant	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100856159G>A	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.843C>T	7.37:g.100856159G>A						PLOD3_uc010lhs.2_5'Flank	p.F281F	NM_001084	NP_001075	O60568	PLOD3_HUMAN			8	1299	-	Lung NSC(181;0.168)|all_lung(186;0.215)		281					B2R6W6|Q540C3	Silent	SNP	ENST00000223127.3	37	c.843C>T	CCDS5715.1	.	.	.	.	.	.	.	.	.	.	G	9.503	1.103839	0.20632	.	.	ENSG00000106397	ENST00000421736	.	.	.	4.98	4.1	0.47936	.	.	.	.	.	T	0.55465	0.1922	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51911	-0.8645	4	.	.	.	-1.485	6.1783	0.20457	0.0956:0.0:0.7193:0.185	.	.	.	.	F	114	.	.	S	-	2	0	PLOD3	100642879	0.995000	0.38212	0.840000	0.33206	0.949000	0.60115	1.540000	0.36115	1.096000	0.41439	0.462000	0.41574	TCT		0.647	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1				19	43	0	0	0	1	0	19	43		
FBXL13	222235	broad.mit.edu	37	7	102462632	102462632	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:102462632C>G	ENST00000313221.4	-	19	2299	c.1873G>C	c.(1873-1875)Gag>Cag	p.E625Q	FBXL13_ENST00000379306.3_Missense_Mutation_p.E343Q|FBXL13_ENST00000379305.3_Missense_Mutation_p.E597Q|FBXL13_ENST00000455112.2_Missense_Mutation_p.E580Q|FBXL13_ENST00000456695.1_Missense_Mutation_p.E343Q|FBXL13_ENST00000393772.2_Missense_Mutation_p.E597Q|FBXL13_ENST00000436908.1_Missense_Mutation_p.E625Q|FBXL13_ENST00000379308.3_Missense_Mutation_p.E580Q	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	625										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GATAACATCTCCATTGCTGAG	0.428																																						uc003vaq.2		NaN																	0					0						c.(1873-1875)GAG>CAG		F-box and leucine-rich repeat protein 13 isoform							149.0	132.0	138.0					7																	102462632		2203	4300	6503	SO:0001583	missense	222235							g.chr7:102462632C>G	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.1873G>C	7.37:g.102462632C>G	ENSP00000321927:p.Glu625Gln					FBXL13_uc010liq.1_Missense_Mutation_p.E158Q|FBXL13_uc010lir.1_Missense_Mutation_p.E580Q|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.E597Q|FAM185A_uc011klh.1_Intron	p.E625Q	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN			19	2300	-			625			LRR 16.		C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	c.1873G>C	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180966	0.38511	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	T;T;T;T;T;T;T;T	0.32272	1.46;3.14;4.31;1.46;1.46;1.46;4.31;3.14	6.17	4.14	0.48551	.	0.146385	0.44688	D	0.000425	T	0.18964	0.0455	L	0.39147	1.195	0.09310	N	0.999992	B;B;B;B	0.31227	0.054;0.021;0.314;0.011	B;B;B;B	0.26310	0.061;0.029;0.068;0.008	T	0.10989	-1.0606	10	0.14252	T	0.57	.	6.9884	0.24741	0.0:0.6075:0.3:0.0925	.	580;343;597;625	Q8NEE6-3;Q8NEE6-4;Q8NEE6-2;Q8NEE6	.;.;.;FXL13_HUMAN	Q	597;580;343;346;597;625;625;343;580	ENSP00000377367:E597Q;ENSP00000368610:E580Q;ENSP00000368608:E343Q;ENSP00000368607:E597Q;ENSP00000388608:E625Q;ENSP00000321927:E625Q;ENSP00000409716:E343Q;ENSP00000391550:E580Q	ENSP00000321927:E625Q	E	-	1	0	FBXL13	102249868	0.987000	0.35691	0.978000	0.43139	0.948000	0.59901	2.464000	0.45067	2.941000	0.99782	0.655000	0.94253	GAG		0.428	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1		NM_145032		19	56	0	0	0	1	0	19	56		
SLC26A5	375611	broad.mit.edu	37	7	103017300	103017300	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:103017300C>G	ENST00000306312.3	-	19	2257	c.1996G>C	c.(1996-1998)Gaa>Caa	p.E666Q	SLC26A5_ENST00000432958.2_Missense_Mutation_p.E634Q|SLC26A5_ENST00000393727.1_Missense_Mutation_p.E668Q|SLC26A5_ENST00000339444.6_Missense_Mutation_p.E666Q|SLC26A5_ENST00000393723.1_Missense_Mutation_p.E636Q|SLC26A5_ENST00000393730.1_Missense_Mutation_p.E634Q|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.E99Q|SLC26A5_ENST00000393729.1_Missense_Mutation_p.E629Q|SLC26A5_ENST00000356767.4_Intron	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	666	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TCTCCATATTCTTTTACAATC	0.328																																						uc003vbz.2		NaN																	0				ovary(1)	1						c.(1996-1998)GAA>CAA		prestin isoform a							102.0	105.0	104.0					7																	103017300		2203	4297	6500	SO:0001583	missense	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103017300C>G	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1996G>C	7.37:g.103017300C>G	ENSP00000304783:p.Glu666Gln					SLC26A5_uc003vbt.1_Missense_Mutation_p.E666Q|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.E634Q|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	p.E666Q	NM_198999	NP_945350	P58743	S26A5_HUMAN			19	2232	-			666			Cytoplasmic (Potential).|STAS.		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	c.1996G>C	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817156	0.90790	.	.	ENSG00000170615	ENST00000339444;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000354356;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	5.98	5.98	0.97165	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.000000	0.85682	D	0.000000	D	0.92941	0.7754	L	0.43152	1.355	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.985;1.0;0.999	D	0.92813	0.6266	10	0.72032	D	0.01	.	20.5176	0.99214	0.0:1.0:0.0:0.0	.	666;634;666	P58743;Q496J2;P58743-2	S26A5_HUMAN;.;.	Q	666;666;634;634;99;629;668;636	ENSP00000342396:E666Q;ENSP00000304783:E666Q;ENSP00000377331:E634Q;ENSP00000389733:E634Q;ENSP00000346325:E99Q;ENSP00000377330:E629Q;ENSP00000377328:E668Q;ENSP00000377324:E636Q	ENSP00000304783:E666Q	E	-	1	0	SLC26A5	102804536	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.912000	0.69948	2.852000	0.98041	0.644000	0.83932	GAA		0.328	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1		NM_198999		5	34	0	0	0	1	0	5	34		
DOCK4	9732	broad.mit.edu	37	7	111541796	111541796	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:111541796C>T	ENST00000437633.1	-	14	1510	c.1254G>A	c.(1252-1254)aaG>aaA	p.K418K	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Silent_p.K418K	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	418	DHR-1.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGGCCACGCTCTTCCCTCCTT	0.358																																						uc003vfx.2		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(1252-1254)AAG>AAA		dedicator of cytokinesis 4							84.0	79.0	80.0					7																	111541796		1857	4096	5953	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111541796C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.1254G>A	7.37:g.111541796C>T						DOCK4_uc003vfy.2_Silent_p.K418K|DOCK4_uc003vga.1_Silent_p.K23K	p.K418K	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			14	1523	-		Acute lymphoblastic leukemia(1;0.0441)	418			DHR-1.		O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.1254G>A	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	C	5.873	0.345288	0.11126	.	.	ENSG00000128512	ENST00000445943	.	.	.	5.86	4.99	0.66335	.	.	.	.	.	T	0.58323	0.2114	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57429	-0.7813	4	.	.	.	.	7.4894	0.27452	0.0:0.7281:0.0:0.2719	.	.	.	.	K	406	.	.	R	-	2	0	DOCK4	111329032	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	2.264000	0.43302	1.629000	0.50426	-0.143000	0.13931	AGA		0.358	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4		NM_014705		7	24	0	0	0	1	0	7	24		
MDFIC	29969	broad.mit.edu	37	7	114655760	114655760	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:114655760T>C	ENST00000393486.1	+	5	1102	c.512T>C	c.(511-513)aTc>aCc	p.I171T	MDFIC_ENST00000257724.3_Missense_Mutation_p.I280T	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						GTCCACTGTATCCTGGCTTGC	0.443																																						uc003vhf.2		NaN																	0				ovary(1)	1						c.(838-840)ATC>ACC		MyoD family inhibitor domain containing protein							418.0	403.0	408.0					7																	114655760		2203	4300	6503	SO:0001583	missense	29969				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleolus|nucleolus|nucleus	cyclin binding|Tat protein binding	g.chr7:114655760T>C	AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.512T>C	7.37:g.114655760T>C	ENSP00000377126:p.Ile171Thr						p.I280T	NM_199072	NP_951038	Q9P1T7	MDFIC_HUMAN			5	1102	+			171			Cys-rich.			Missense_Mutation	SNP	ENST00000393486.1	37	c.839T>C	CCDS55155.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.528326	0.85706	.	.	ENSG00000135272	ENST00000257724;ENST00000393486;ENST00000498196	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.81173	0.4767	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83635	0.0147	9	0.66056	D	0.02	-7.042	16.4237	0.83790	0.0:0.0:0.0:1.0	.	171	Q9P1T7	MDFIC_HUMAN	T	280;171;116	.	ENSP00000257724:I280T	I	+	2	0	MDFIC	114442996	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.698000	0.84413	2.279000	0.76181	0.533000	0.62120	ATC		0.443	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059968.4		NM_199072		92	317	0	0	0	1	0	92	317		
CTTNBP2	83992	broad.mit.edu	37	7	117431347	117431347	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:117431347G>A	ENST00000160373.3	-	4	1994	c.1903C>T	c.(1903-1905)Cag>Tag	p.Q635*	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	635					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GCACCCACCTGAGACGTGGCC	0.552																																						uc003vjf.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(1903-1905)CAG>TAG		cortactin binding protein 2							83.0	76.0	78.0					7																	117431347		2203	4300	6503	SO:0001587	stop_gained	83992							g.chr7:117431347G>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1903C>T	7.37:g.117431347G>A	ENSP00000160373:p.Gln635*						p.Q635*	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	1995	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		635					O43389|Q7LG11|Q9C0A5	Nonsense_Mutation	SNP	ENST00000160373.3	37	c.1903C>T	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.222860|6.222860	0.97390|0.97390	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	.|T	.|0.69435	.|-0.4	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|D	.|0.82375	.|0.5023	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.83190	.|-0.0084	.|5	0.62326|0.72032	D|D	0.03|0.01	0.8027|0.8027	20.2982|20.2982	0.98569|0.98569	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	635|163	.|ENSP00000389576:S163L	ENSP00000160373:Q635X|ENSP00000389576:S163L	Q|S	-|-	1|2	0|0	CTTNBP2|CTTNBP2	117218583|117218583	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.011000|9.011000	0.93618|0.93618	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	CAG|TCA		0.552	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4		NM_033427		15	55	0	0	0	1	0	15	55		
CPED1	79974	broad.mit.edu	37	7	120764493	120764493	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:120764493G>A	ENST00000310396.5	+	8	1494	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	CPED1_ENST00000423795.1_Missense_Mutation_p.E123K|CPED1_ENST00000450913.2_Missense_Mutation_p.E343K	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	343						endoplasmic reticulum (GO:0005783)											AGTATTCAGTGAAACATCTAC	0.343																																						uc003vjq.3		NaN																	0				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(1027-1029)GAA>AAA		hypothetical protein LOC79974 isoform 1							71.0	69.0	70.0					7																	120764493		2203	4300	6503	SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120764493G>A		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1027G>A	7.37:g.120764493G>A	ENSP00000309772:p.Glu343Lys					C7orf58_uc003vjr.1_Missense_Mutation_p.E343K|C7orf58_uc003vjs.3_Missense_Mutation_p.E343K|C7orf58_uc003vjt.3_Missense_Mutation_p.E123K|C7orf58_uc010lkk.1_Missense_Mutation_p.E123K	p.E343K	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			8	1474	+	all_neural(327;0.117)		343					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.1027G>A	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709420	0.48517	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	5.08	4.18	0.49190	.	0.678397	0.15258	N	0.271978	T	0.36880	0.0983	L	0.54323	1.7	0.80722	D	1	P;B;P	0.40250	0.617;0.301;0.709	B;B;B	0.37601	0.124;0.082;0.254	T	0.09618	-1.0666	10	0.32370	T	0.25	.	10.2607	0.43425	0.0768:0.1384:0.7848:0.0	.	123;343;343	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	K	343;343;343;123;123	ENSP00000309772:E343K;ENSP00000398082:E343K;ENSP00000406122:E343K;ENSP00000415573:E123K;ENSP00000391952:E123K	ENSP00000309772:E343K	E	+	1	0	C7orf58	120551729	1.000000	0.71417	0.802000	0.32245	0.921000	0.55340	2.805000	0.47939	1.237000	0.43756	0.591000	0.81541	GAA		0.343	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1		NM_024913		7	35	0	0	0	1	0	7	35		
AASS	10157	broad.mit.edu	37	7	121738811	121738811	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:121738811C>G	ENST00000393376.1	-	13	1611	c.1516G>C	c.(1516-1518)Gaa>Caa	p.E506Q	AASS_ENST00000417368.2_Missense_Mutation_p.E506Q|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	506	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						ACTGTTATTTCTATATTGCCA	0.333																																						uc003vka.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1516-1518)GAA>CAA		aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						53.0	60.0	58.0					7																	121738811		2203	4298	6501	SO:0001583	missense	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121738811C>G	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1516G>C	7.37:g.121738811C>G	ENSP00000377040:p.Glu506Gln					AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.E506Q|AASS_uc011knw.1_Intron	p.E506Q	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			13	1612	-			506			Saccharopine dehydrogenase.		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	c.1516G>C	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650389	0.29336	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	T;T	0.44083	0.93;0.93	5.87	4.98	0.66077	NAD(P)-binding domain (1);	0.237979	0.49916	D	0.000129	T	0.25606	0.0623	N	0.14661	0.345	0.35728	D	0.817666	B	0.06786	0.001	B	0.15052	0.012	T	0.19031	-1.0318	10	0.17369	T	0.5	-14.1968	13.3551	0.60623	0.0:0.9231:0.0:0.0769	.	506	Q9UDR5	AASS_HUMAN	Q	506	ENSP00000377040:E506Q;ENSP00000403768:E506Q	ENSP00000351834:E506Q	E	-	1	0	AASS	121526047	1.000000	0.71417	0.988000	0.46212	0.931000	0.56810	1.785000	0.38684	2.776000	0.95493	0.585000	0.79938	GAA		0.333	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1		NM_005763		14	33	0	0	0	1	0	14	33		
CPA2	1358	broad.mit.edu	37	7	129916530	129916530	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:129916530C>T	ENST00000222481.4	+	7	703	c.648C>T	c.(646-648)ttC>ttT	p.F216F		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	216					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TGGATATCTTCCTCCTGCCAG	0.453																																						uc003vpq.2		NaN																	0				ovary(1)	1						c.(646-648)TTC>TTT		carboxypeptidase A2 (pancreatic) precursor							219.0	199.0	206.0					7																	129916530		2203	4300	6503	SO:0001819	synonymous_variant	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129916530C>T	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.648C>T	7.37:g.129916530C>T						CPA2_uc011kpc.1_Silent_p.F216F	p.F216F	NM_001869	NP_001860	P48052	CBPA2_HUMAN			7	667	+	Melanoma(18;0.0435)		216					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Silent	SNP	ENST00000222481.4	37	c.648C>T	CCDS5817.2																																																																																				0.453	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2		NM_001869		24	89	0	0	0	1	0	24	89		
CPA1	1357	broad.mit.edu	37	7	130027841	130027841	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:130027841C>T	ENST00000011292.3	+	10	1399	c.1249C>T	c.(1249-1251)Cac>Tac	p.H417Y	CPA1_ENST00000484324.1_Missense_Mutation_p.H329Y	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	417					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CACCCTGAATCACCCCTACTG	0.567																																						uc003vpx.2		NaN																	0				ovary(1)	1						c.(1249-1251)CAC>TAC		carboxypeptidase A1 precursor							207.0	188.0	194.0					7																	130027841		2203	4300	6503	SO:0001583	missense	1357				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130027841C>T		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.1249C>T	7.37:g.130027841C>T	ENSP00000011292:p.His417Tyr						p.H417Y	NM_001868	NP_001859	P15085	CBPA1_HUMAN			10	1321	+	Melanoma(18;0.0435)		417					A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP	ENST00000011292.3	37	c.1249C>T	CCDS5820.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.386733	0.61956	.	.	ENSG00000091704	ENST00000011292;ENST00000484324	T;T	0.15017	2.82;2.46	5.86	1.89	0.25635	.	0.227965	0.51477	D	0.000088	T	0.25938	0.0632	M	0.70275	2.135	0.30471	N	0.773306	D	0.59767	0.986	P	0.45538	0.484	T	0.42050	-0.9474	10	0.87932	D	0	.	16.9723	0.86303	0.6688:0.3312:0.0:0.0	.	417	P15085	CBPA1_HUMAN	Y	417;329	ENSP00000011292:H417Y;ENSP00000419497:H329Y	ENSP00000011292:H417Y	H	+	1	0	CPA1	129815077	0.007000	0.16637	0.177000	0.23020	0.956000	0.61745	0.134000	0.15932	0.130000	0.18549	0.650000	0.86243	CAC		0.567	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2		NM_001868		66	233	0	0	0	1	0	66	233		
TMEM140	55281	broad.mit.edu	37	7	134849404	134849404	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:134849404G>A	ENST00000275767.3	+	2	434	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	71						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(2)	5						CCCTGAGCTGGAAGCCCTGGG	0.622																																						uc003vsi.2		NaN																	0				large_intestine(1)	1						c.(211-213)GAA>AAA		transmembrane protein 140							79.0	82.0	81.0					7																	134849404		2203	4300	6503	SO:0001583	missense	55281					integral to membrane		g.chr7:134849404G>A	AK001862	CCDS5837.1	7q33	2006-03-17			ENSG00000146859	ENSG00000146859			21870	protein-coding gene	gene with protein product							Standard	NM_018295		Approved	FLJ11000	uc003vsi.3	Q9NV12	OTTHUMG00000155413	ENST00000275767.3:c.211G>A	7.37:g.134849404G>A	ENSP00000275767:p.Glu71Lys					C7orf49_uc003vsh.2_Intron	p.E71K	NM_018295	NP_060765	Q9NV12	TM140_HUMAN			2	492	+			71			Extracellular (Potential).		A4D1P9|Q8WUC3	Missense_Mutation	SNP	ENST00000275767.3	37	c.211G>A	CCDS5837.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475060	0.84640	.	.	ENSG00000146859	ENST00000275767;ENST00000456488	T	0.20332	2.08	5.28	4.41	0.53225	.	0.583249	0.16559	N	0.209102	T	0.21674	0.0522	M	0.65975	2.015	0.24583	N	0.993869	P	0.35793	0.521	B	0.28916	0.096	T	0.13656	-1.0501	10	0.49607	T	0.09	-7.2537	10.87	0.46877	0.0871:0.0:0.9129:0.0	.	71	Q9NV12	TM140_HUMAN	K	71	ENSP00000275767:E71K	ENSP00000275767:E71K	E	+	1	0	TMEM140	134499944	0.998000	0.40836	1.000000	0.80357	0.939000	0.58152	1.470000	0.35354	1.462000	0.47948	0.655000	0.94253	GAA		0.622	TMEM140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340017.2		NM_018295		48	115	0	0	0	1	0	48	115		
MGAM	8972	broad.mit.edu	37	7	141721466	141721466	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:141721466G>C	ENST00000549489.2	+	6	734	c.639G>C	c.(637-639)ttG>ttC	p.L213F	MGAM_ENST00000475668.2_Missense_Mutation_p.L213F	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	213	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGCTTCTTTGACCTACCAAG	0.428																																						uc003vwy.2		NaN																	0				ovary(2)	2						c.(637-639)TTG>TTC		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						124.0	116.0	119.0					7																	141721466		1912	4146	6058	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141721466G>C	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.639G>C	7.37:g.141721466G>C	ENSP00000447378:p.Leu213Phe						p.L213F	NM_004668	NP_004659	O43451	MGA_HUMAN			6	693	+	Melanoma(164;0.0272)		213			Lumenal (Potential).|Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.639G>C	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777304	0.31411	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.81739	-1.53	5.65	4.77	0.60923	Glycoside hydrolase-type carbohydrate-binding (1);	1.462930	0.04400	N	0.364053	T	0.78355	0.4270	L	0.49126	1.545	0.28001	N	0.935264	B	0.21753	0.06	B	0.23852	0.049	T	0.62770	-0.6784	10	0.42905	T	0.14	.	8.4136	0.32657	0.1698:0.0:0.8302:0.0	.	213	O43451	MGA_HUMAN	F	213;213;90	ENSP00000447378:L213F	ENSP00000316431:L90F	L	+	3	2	MGAM	141367935	0.355000	0.24921	0.065000	0.19835	0.020000	0.10135	1.618000	0.36954	1.621000	0.50320	0.655000	0.94253	TTG		0.428	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3				16	64	0	0	0	1	0	16	64		
EPHB6	2051	broad.mit.edu	37	7	142566063	142566063	+	Silent	SNP	T	T	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:142566063T>C	ENST00000392957.2	+	14	2770	c.1983T>C	c.(1981-1983)ctT>ctC	p.L661L	EPHB6_ENST00000411471.2_Silent_p.L384L|EPHB6_ENST00000442129.1_Silent_p.L661L	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	661						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TCCGAGAACTTGCCCGGGAAG	0.567																																						uc011kst.1		NaN																	0				lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19						c.(1981-1983)CTT>CTC		ephrin receptor EphB6 precursor							106.0	99.0	101.0					7																	142566063		2203	4300	6503	SO:0001819	synonymous_variant	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142566063T>C	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1983T>C	7.37:g.142566063T>C						EPHB6_uc011ksu.1_Silent_p.L661L|EPHB6_uc003wbs.2_Silent_p.L369L|EPHB6_uc003wbt.2_Silent_p.L135L|EPHB6_uc003wbu.2_Silent_p.L369L|EPHB6_uc003wbv.2_Silent_p.L45L	p.L661L	NM_004445	NP_004436	O15197	EPHB6_HUMAN			14	2770	+	Melanoma(164;0.059)		661			Cytoplasmic (Potential).		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	c.1983T>C	CCDS5873.2																																																																																				0.567	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1				20	79	0	0	0	1	0	20	79		
TRPV5	56302	broad.mit.edu	37	7	142612712	142612712	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:142612712G>A	ENST00000265310.1	-	9	1497	c.1149C>T	c.(1147-1149)atC>atT	p.I383I		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	383					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCAGCCTGATGATATCTTCAC	0.527																																						uc003wby.1		NaN																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(1147-1149)ATC>ATT		transient receptor potential cation channel,							111.0	88.0	96.0					7																	142612712		2203	4300	6503	SO:0001819	synonymous_variant	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142612712G>A	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1149C>T	7.37:g.142612712G>A							p.I383I	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			9	1413	-	Melanoma(164;0.059)		383			Extracellular (Potential).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP	ENST00000265310.1	37	c.1149C>T	CCDS5875.1																																																																																				0.527	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1		NM_019841		16	50	0	0	0	1	0	16	50		
CUL1	8454	broad.mit.edu	37	7	148457547	148457547	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:148457547G>T	ENST00000325222.4	+	7	1027	c.748G>T	c.(748-750)Gaa>Taa	p.E250*	CUL1_ENST00000602748.1_Nonsense_Mutation_p.E250*|CUL1_ENST00000409469.1_Nonsense_Mutation_p.E250*	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	250					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AGAGAGTACTGAATTCTTGCA	0.348																																						uc010lpg.2		NaN																	0				lung(1)	1						c.(748-750)GAA>TAA		cullin 1							118.0	134.0	128.0					7																	148457547		2203	4300	6503	SO:0001587	stop_gained	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148457547G>T	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.748G>T	7.37:g.148457547G>T	ENSP00000326804:p.Glu250*					CUL1_uc003wey.2_Nonsense_Mutation_p.E250*|CUL1_uc003wez.2_Nonsense_Mutation_p.E140*	p.E250*	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		7	1274	+	Melanoma(164;0.15)		250					D3DWG3|O60719|Q08AL6|Q8IYW1	Nonsense_Mutation	SNP	ENST00000325222.4	37	c.748G>T	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	41	8.552379	0.98859	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	.	.	.	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-3.4878	17.2933	0.87163	0.0:0.0:1.0:0.0	.	.	.	.	X	250;250;208;177	.	ENSP00000326804:E250X	E	+	1	0	CUL1	148088480	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.993000	0.93524	2.377000	0.81083	0.585000	0.79938	GAA		0.348	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1		NM_003592		42	99	1	0	3.7052e-28	1	3.95767e-28	42	99		
EZH2	2146	broad.mit.edu	37	7	148512132	148512132	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:148512132C>G	ENST00000460911.1	-	14	1620		c.e14-1		EZH2_ENST00000478654.1_Intron|EZH2_ENST00000541220.1_Intron|EZH2_ENST00000350995.2_Splice_Site|EZH2_ENST00000476773.1_Intron|EZH2_ENST00000483967.1_Splice_Site|EZH2_ENST00000320356.2_Splice_Site			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit						cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GAGGAGCCGTCTGAGTAAAGA	0.443			Mis		DLBCL																																	uc003wfd.1		NaN		Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183						c.e14-1		enhancer of zeste 2 isoform a							68.0	57.0	60.0					7																	148512132		2203	4300	6503	SO:0001630	splice_region_variant	2146				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148512132C>G		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1532-1G>C	7.37:g.148512132C>G						EZH2_uc011kug.1_Intron|EZH2_uc003wfb.1_Splice_Site_p.D516_splice|EZH2_uc003wfc.1_Splice_Site_p.D472_splice|EZH2_uc011kuh.1_Splice_Site_p.D502_splice	p.D511_splice	NM_004456	NP_004447	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		14	1698	-	Melanoma(164;0.15)							B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Splice_Site	SNP	ENST00000460911.1	37	c.1532_splice	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671802	0.88348	.	.	ENSG00000106462	ENST00000320356;ENST00000460911;ENST00000350995;ENST00000483967	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7648	0.91868	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EZH2	148143065	1.000000	0.71417	0.996000	0.52242	0.956000	0.61745	7.503000	0.81632	2.421000	0.82119	0.563000	0.77884	.		0.443	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1		NM_004456	Intron	8	25	0	0	0	1	0	8	25		
EZH2	2146	broad.mit.edu	37	7	148514356	148514356	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:148514356G>A	ENST00000460911.1	-	11	1441	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F	EZH2_ENST00000478654.1_Silent_p.F442F|EZH2_ENST00000541220.1_Silent_p.F442F|EZH2_ENST00000350995.2_Silent_p.F412F|EZH2_ENST00000476773.1_Silent_p.F442F|EZH2_ENST00000483967.1_Silent_p.F442F|EZH2_ENST00000320356.2_Silent_p.F456F			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	451	Interaction with CDYL.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			CAATGGCACAGAAATTGTCAT	0.378			Mis		DLBCL																																	uc003wfd.1		NaN		Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183						c.(1351-1353)TTC>TTT		enhancer of zeste 2 isoform a							101.0	83.0	89.0					7																	148514356		2203	4300	6503	SO:0001819	synonymous_variant	2146				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148514356G>A		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1353C>T	7.37:g.148514356G>A						EZH2_uc011kug.1_Silent_p.F442F|EZH2_uc003wfb.1_Silent_p.F456F|EZH2_uc003wfc.1_Silent_p.F412F|EZH2_uc011kuh.1_Silent_p.F442F|EZH2_uc011kui.1_3'UTR	p.F451F	NM_004456	NP_004447	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		11	1519	-	Melanoma(164;0.15)		451					B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Silent	SNP	ENST00000460911.1	37	c.1353C>T	CCDS56516.1																																																																																				0.378	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1		NM_004456		7	23	0	0	0	1	0	7	23		
SSPO	23145	broad.mit.edu	37	7	149503891	149503891	+	RNA	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:149503891C>G	ENST00000378016.2	+	0	8719							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCCTTGCCCTCGGCTATGCCT	0.612																																						uc010lpk.2		NaN																	0					0						c.(8719-8721)CGG>GGG		SCO-spondin precursor							23.0	31.0	28.0					7																	149503891		1932	4108	6040			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149503891C>G	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149503891C>G							p.R2907G	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		60	8719	+	Melanoma(164;0.165)|Ovarian(565;0.177)		2907					Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.8719C>G																																																																																					0.612	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript					4	12	0	0	0	1	0	4	12		
ABCB8	11194	broad.mit.edu	37	7	150738289	150738289	+	Silent	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:150738289C>A	ENST00000297504.6	+	14	1704	c.1638C>A	c.(1636-1638)ctC>ctA	p.L546L	ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000542328.1_Silent_p.L441L|ABCB8_ENST00000498578.1_Silent_p.L529L|ABCB8_ENST00000358849.4_Silent_p.L529L			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	546	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	CCTCCTGGCTCCGGGGCCAGG	0.697																																						uc003wil.3		NaN																	0				breast(2)|upper_aerodigestive_tract(1)	3						c.(1636-1638)CTC>CTA		ATP-binding cassette, sub-family B, member 8							36.0	37.0	37.0					7																	150738289		2203	4299	6502	SO:0001819	synonymous_variant	11194					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr7:150738289C>A	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.1638C>A	7.37:g.150738289C>A						ABCB8_uc010lpw.1_3'UTR|ABCB8_uc010lpx.2_Silent_p.L529L|ABCB8_uc011kvd.1_Silent_p.L441L|ABCB8_uc003wim.3_Silent_p.L324L|ABCB8_uc003wik.3_Silent_p.L529L	p.L546L	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	14	1731	+			546			ABC transporter.		A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Silent	SNP	ENST00000297504.6	37	c.1638C>A																																																																																					0.697	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2		NM_007188		13	71	1	0	4.3838e-07	1	4.52823e-07	13	71		
AGAP3	116988	broad.mit.edu	37	7	150835257	150835257	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:150835257C>T	ENST00000397238.2	+	12	1523	c.1523C>T	c.(1522-1524)tCc>tTc	p.S508F	AGAP3_ENST00000463381.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	472	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						AGCAGCGCATCCCTGCACTCT	0.682																																						uc003wjg.1		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(1522-1524)TCC>TTC		centaurin, gamma 3 isoform a							8.0	10.0	9.0					7																	150835257		1969	4110	6079	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150835257C>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000397238.2:c.1523C>T	7.37:g.150835257C>T	ENSP00000380413:p.Ser508Phe					AGAP3_uc003wje.1_Intron|AGAP3_uc003wjj.1_Intron|AGAP3_uc003wjk.1_5'Flank	p.S508F	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN			12	1526	+			472			PH.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000397238.2	37	c.1523C>T	CCDS43681.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793697	0.70452	.	.	ENSG00000133612	ENST00000397238;ENST00000335355	T	0.70986	-0.53	3.39	2.48	0.30137	.	4.560350	0.00982	N	0.003381	T	0.72162	0.3426	L	0.34521	1.04	0.80722	D	1	P	0.47545	0.897	P	0.49799	0.622	T	0.57335	-0.7829	10	0.52906	T	0.07	.	11.2622	0.49089	0.0:0.7863:0.2137:0.0	.	508	Q96P47-4	.	F	508;472	ENSP00000380413:S508F	ENSP00000334157:S472F	S	+	2	0	AGAP3	150466190	1.000000	0.71417	0.846000	0.33378	0.817000	0.46193	3.676000	0.54612	0.591000	0.29711	0.462000	0.41574	TCC		0.682	AGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351908.3		NM_031946		7	27	0	0	0	1	0	7	27		
GALNT11	63917	broad.mit.edu	37	7	151802337	151802337	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:151802337G>A	ENST00000434507.1	+	7	1031	c.594G>A	c.(592-594)ttG>ttA	p.L198L	GALNT11_ENST00000422997.2_3'UTR|GALNT11_ENST00000320311.2_Silent_p.L198L|GALNT11_ENST00000452146.2_Silent_p.L117L|GALNT11_ENST00000430044.2_Silent_p.L198L			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	198	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		CAGATGATTTGAAAGGAGAAC	0.328																																						uc010lqg.1		NaN																	0					0						c.(592-594)TTG>TTA		N-acetylgalactosaminyltransferase 11							61.0	66.0	64.0					7																	151802337		2203	4300	6503	SO:0001819	synonymous_variant	63917					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:151802337G>A	AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19875	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 11"""	615130	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"""			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.594G>A	7.37:g.151802337G>A						GALNT11_uc011kvm.1_Silent_p.L117L|GALNT11_uc003wku.2_Silent_p.L198L|GALNT11_uc011kvn.1_RNA|GALNT11_uc003wkw.1_5'Flank	p.L198L	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)	5	824	+	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	198			Lumenal (Potential).|Catalytic subdomain A.		B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Silent	SNP	ENST00000434507.1	37	c.594G>A	CCDS5930.1																																																																																				0.328	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1		NM_022087		10	44	0	0	0	1	0	10	44		
KMT2C	58508	broad.mit.edu	37	7	151859702	151859702	+	Nonsense_Mutation	SNP	G	G	A	rs573832297		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:151859702G>A	ENST00000262189.6	-	43	11178	c.10960C>T	c.(10960-10962)Caa>Taa	p.Q3654*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q3654*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3654					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCGGCTTGTTGAGGAAGCTCA	0.532																																						uc003wla.2		NaN								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(10960-10962)CAA>TAA		myeloid/lymphoid or mixed-lineage leukemia 3							116.0	115.0	115.0					7																	151859702		2203	4300	6503	SO:0001587	stop_gained	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151859702G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.10960C>T	7.37:g.151859702G>A	ENSP00000262189:p.Gln3654*					MLL3_uc003wkz.2_Nonsense_Mutation_p.Q2715*|MLL3_uc003wky.2_Nonsense_Mutation_p.Q1163*	p.Q3654*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	43	11179	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	3654					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.10960C>T	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	52|52	19.814342|19.814342	0.99924|0.99924	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	.|.	.|.	.|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	1.035100|.	0.07763|.	U|.	0.950392|.	.|T	.|0.42359	.|0.1199	.|.	.|.	.|.	0.22903|0.22903	N|N	0.998589|0.998589	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.31280	.|-0.9949	.|4	0.10111|.	T|.	0.7|.	.|.	12.3626|12.3626	0.55211|0.55211	0.0768:0.0:0.9232:0.0|0.0768:0.0:0.9232:0.0	.|.	.|.	.|.	.|.	X|L	3654;3654;240|1159	.|.	ENSP00000262189:Q3654X|.	Q|S	-|-	1|2	0|0	MLL3|MLL3	151490635|151490635	0.782000|0.782000	0.28689|0.28689	0.021000|0.021000	0.16686|0.16686	0.065000|0.065000	0.16274|0.16274	5.040000|5.040000	0.64191|0.64191	2.484000|2.484000	0.83849|0.83849	0.650000|0.650000	0.86243|0.86243	CAA|TCA		0.532	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				35	100	0	0	0	1	0	35	100		
NCAPG2	54892	broad.mit.edu	37	7	158456891	158456891	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:158456891C>T	ENST00000409423.1	-	16	1972	c.1800G>A	c.(1798-1800)gaG>gaA	p.E600E	NCAPG2_ENST00000275830.10_Silent_p.E392E|NCAPG2_ENST00000356309.3_Silent_p.E600E|NCAPG2_ENST00000409339.3_Silent_p.E600E|NCAPG2_ENST00000449727.2_Silent_p.E600E|NCAPG2_ENST00000541468.1_Silent_p.E101E	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	600					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CATTCTCCTTCTCCCTTCCGT	0.512																																						uc003wnv.1		NaN																	0				ovary(1)|breast(1)|kidney(1)	3						c.(1798-1800)GAG>GAA		leucine zipper protein 5							104.0	110.0	108.0					7																	158456891		2066	4196	6262	SO:0001819	synonymous_variant	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158456891C>T	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.1800G>A	7.37:g.158456891C>T						NCAPG2_uc010lqu.1_Silent_p.E392E|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Silent_p.E600E|NCAPG2_uc011kwe.1_Silent_p.E600E|NCAPG2_uc011kwc.1_Silent_p.E101E|NCAPG2_uc011kwd.1_Silent_p.E101E	p.E600E	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	15	1945	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	600					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Silent	SNP	ENST00000409423.1	37	c.1800G>A	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	C	0.550	-0.849825	0.02651	.	.	ENSG00000146918	ENST00000441982	.	.	.	5.16	2.92	0.33932	.	.	.	.	.	T	0.47637	0.1456	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39014	-0.9634	4	.	.	.	.	4.4172	0.11463	0.0:0.4936:0.0:0.5064	.	.	.	.	K	402	.	.	R	-	2	0	NCAPG2	158149652	1.000000	0.71417	0.976000	0.42696	0.025000	0.11179	0.876000	0.28092	1.252000	0.44001	0.563000	0.77884	AGA		0.512	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1		NM_017760		11	82	0	0	0	1	0	11	82		
WDR60	55112	broad.mit.edu	37	7	158723187	158723187	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:158723187C>T	ENST00000407559.3	+	21	2685	c.2527C>T	c.(2527-2529)Ctg>Ttg	p.L843L		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	843					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		ACATAGTGCTCTGATCCAGTT	0.408																																						uc003woe.3		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(2527-2529)CTG>TTG		WD repeat domain 60							172.0	163.0	166.0					7																	158723187		1977	4156	6133	SO:0001819	synonymous_variant	55112							g.chr7:158723187C>T		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.2527C>T	7.37:g.158723187C>T						WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Silent_p.L475L	p.L843L	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	21	2685	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	843					Q9NW58	Silent	SNP	ENST00000407559.3	37	c.2527C>T	CCDS47757.1																																																																																				0.408	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1		NM_018051		4	16	0	0	0	1	0	4	16		
CSMD1	64478	broad.mit.edu	37	8	4851876	4851876	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:4851876C>T	ENST00000520002.1	-	1	618	c.63G>A	c.(61-63)gcG>gcA	p.A21A	CSMD1_ENST00000602557.1_Silent_p.A21A|CSMD1_ENST00000537824.1_Silent_p.A21A|CSMD1_ENST00000602723.1_Silent_p.A21A|CSMD1_ENST00000400186.3_Silent_p.A21A|CSMD1_ENST00000542608.1_Silent_p.A21A|CSMD1_ENST00000539096.1_Silent_p.A21A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	21						integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGAGGAGCCTCGCGCACAGCA	0.647																																						uc011kwk.1		NaN																	0				breast(20)|large_intestine(5)	25						c.(61-63)GCG>GCA		CUB and Sushi multiple domains 1 precursor							50.0	61.0	57.0					8																	4851876		2195	4295	6490	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:4851876C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.63G>A	8.37:g.4851876C>T							p.A21A	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	1	453	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	21					Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.63G>A																																																																																					0.647	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2		NM_033225		7	46	0	0	0	1	0	7	46		
SGK223	157285	broad.mit.edu	37	8	8175697	8175697	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:8175697C>T	ENST00000520004.1	-	6	4452	c.4188G>A	c.(4186-4188)ctG>ctA	p.L1396L	SGK223_ENST00000330777.4_Silent_p.L1396L			Q86YV5	SG223_HUMAN		0							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GCAGGAGCTTCAGCGACTGTA	0.657																																					GBM(34;731 755 10259 33573 33867)	uc003wsh.3		NaN																	0					0						c.(4186-4188)CTG>CTA		pragmin							21.0	28.0	26.0					8																	8175697		1985	4149	6134	SO:0001819	synonymous_variant	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8175697C>T																												ENST00000520004.1:c.4188G>A	8.37:g.8175697C>T							p.L1396L	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			5	4188	-			1396					Q8N3N5	Silent	SNP	ENST00000520004.1	37	c.4188G>A	CCDS43706.1																																																																																				0.657	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1				26	57	0	0	0	1	0	26	57		
SGK223	157285	broad.mit.edu	37	8	8176545	8176545	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:8176545C>T	ENST00000520004.1	-	6	3604	c.3340G>A	c.(3340-3342)Gag>Aag	p.E1114K	SGK223_ENST00000330777.4_Missense_Mutation_p.E1114K			Q86YV5	SG223_HUMAN		1116	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TCGTACGCCTCGGGCTCCGCC	0.672																																					GBM(34;731 755 10259 33573 33867)	uc003wsh.3		NaN																	0					0						c.(3340-3342)GAG>AAG		pragmin							74.0	83.0	80.0					8																	8176545		2075	4203	6278	SO:0001583	missense	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8176545C>T																												ENST00000520004.1:c.3340G>A	8.37:g.8176545C>T	ENSP00000428054:p.Glu1114Lys						p.E1114K	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			5	3340	-			1114			Protein kinase.		Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.3340G>A	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	35	5.462724	0.96257	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.63913	-0.07;-0.07	5.48	5.48	0.80851	Serine/threonine-protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78162	0.4240	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79077	-0.1951	10	0.72032	D	0.01	.	18.7121	0.91661	0.0:1.0:0.0:0.0	.	1114	Q86YV5	SG223_HUMAN	K	1114	ENSP00000330930:E1114K;ENSP00000428054:E1114K	ENSP00000330930:E1114K	E	-	1	0	AC068353.1	8213955	1.000000	0.71417	0.850000	0.33497	0.825000	0.46686	7.651000	0.83577	2.750000	0.94351	0.467000	0.42956	GAG		0.672	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1				78	203	0	0	0	1	0	78	203		
MFHAS1	9258	broad.mit.edu	37	8	8750290	8750290	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:8750290G>C	ENST00000276282.6	-	1	865	c.279C>G	c.(277-279)gtC>gtG	p.V93V		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	93										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TCCTGCGCAGGACCAGGACGC	0.721																																					Melanoma(103;1201 2045 17515 28966)	uc003wsj.1		NaN																	0					0						c.(277-279)GTC>GTG		malignant fibrous histiocytoma amplified							9.0	12.0	11.0					8																	8750290		2159	4262	6421	SO:0001819	synonymous_variant	9258							g.chr8:8750290G>C	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.279C>G	8.37:g.8750290G>C							p.V93V	NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	842	-		Hepatocellular(245;0.217)	93			LRR 2.		Q96CI0	Silent	SNP	ENST00000276282.6	37	c.279C>G	CCDS34844.1																																																																																				0.721	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2		NM_004225		5	14	0	0	0	1	0	5	14		
TNFRSF10A	8797	broad.mit.edu	37	8	23049437	23049437	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:23049437C>T	ENST00000221132.3	-	10	1241	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	RP11-1149O23.2_ENST00000518308.1_RNA	NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	393	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)	p.E393K(1)		NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		ACATCGATCTCATTTTTCGTG	0.522																																						uc003xda.2		NaN																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(2)|skin(1)	6						c.(1177-1179)GAG>AAG		tumor necrosis factor receptor superfamily,							140.0	116.0	124.0					8																	23049437		2203	4300	6503	SO:0001583	missense	8797				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding	g.chr8:23049437C>T	U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.1177G>A	8.37:g.23049437C>T	ENSP00000221132:p.Glu393Lys						p.E393K	NM_003844	NP_003835	O00220	TR10A_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)	10	1242	-		Prostate(55;0.0421)|Breast(100;0.14)	393			Cytoplasmic (Potential).|Death.		A8K5I4|Q53Y72|Q96E62	Missense_Mutation	SNP	ENST00000221132.3	37	c.1177G>A	CCDS6039.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954900	0.53293	.	.	ENSG00000104689	ENST00000221132	T	0.46063	0.88	3.43	2.51	0.30379	Death (3);DEATH-like (2);	0.786081	0.11102	U	0.599520	T	0.61324	0.2338	M	0.79475	2.455	0.19945	N	0.999946	D	0.76494	0.999	D	0.69654	0.965	T	0.46456	-0.9190	10	0.72032	D	0.01	.	8.1172	0.30950	0.0:0.7343:0.2657:0.0	.	393	O00220	TR10A_HUMAN	K	393	ENSP00000221132:E393K	ENSP00000221132:E393K	E	-	1	0	TNFRSF10A	23105382	0.675000	0.27558	0.036000	0.18154	0.002000	0.02628	0.714000	0.25808	0.567000	0.29293	0.462000	0.41574	GAG		0.522	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215133.2		NM_003844		47	51	0	0	0	1	0	47	51		
TNFRSF10A	8797	broad.mit.edu	37	8	23049482	23049482	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:23049482C>T	ENST00000221132.3	-	10	1196	c.1132G>A	c.(1132-1134)Gac>Aac	p.D378N	RP11-1149O23.2_ENST00000518308.1_RNA	NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	378	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TCCCAGGAGTCAAAGGGCACG	0.527																																						uc003xda.2		NaN																	0				central_nervous_system(3)|ovary(2)|skin(1)	6						c.(1132-1134)GAC>AAC		tumor necrosis factor receptor superfamily,							88.0	74.0	79.0					8																	23049482		2203	4300	6503	SO:0001583	missense	8797				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding	g.chr8:23049482C>T	U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.1132G>A	8.37:g.23049482C>T	ENSP00000221132:p.Asp378Asn						p.D378N	NM_003844	NP_003835	O00220	TR10A_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)	10	1197	-		Prostate(55;0.0421)|Breast(100;0.14)	378			Cytoplasmic (Potential).|Death.		A8K5I4|Q53Y72|Q96E62	Missense_Mutation	SNP	ENST00000221132.3	37	c.1132G>A	CCDS6039.1	.	.	.	.	.	.	.	.	.	.	C	0.035	-1.314107	0.01331	.	.	ENSG00000104689	ENST00000221132	D	0.85088	-1.94	3.58	-7.16	0.01516	Death (2);DEATH-like (2);	4.409850	0.02357	N	0.076461	T	0.68906	0.3052	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.62029	-0.6940	10	0.27082	T	0.32	.	9.7064	0.40218	0.0:0.4422:0.4081:0.1497	.	378	O00220	TR10A_HUMAN	N	378	ENSP00000221132:D378N	ENSP00000221132:D378N	D	-	1	0	TNFRSF10A	23105427	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-2.368000	0.01077	-2.531000	0.00491	-0.487000	0.04747	GAC		0.527	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215133.2		NM_003844		19	60	0	0	0	1	0	19	60		
NEFM	4741	broad.mit.edu	37	8	24775109	24775109	+	Missense_Mutation	SNP	G	G	A	rs368542205		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:24775109G>A	ENST00000221166.5	+	3	2523	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	NEFM_ENST00000521540.1_Intron|NEFM_ENST00000437366.2_Missense_Mutation_p.E581K|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000518131.1_Missense_Mutation_p.E581K|NEFM_ENST00000433454.2_Missense_Mutation_p.E205K			P07197	NFM_HUMAN	neurofilament, medium polypeptide	581	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		agaggaagccgaagctaaaga	0.502																																						uc003xed.3		NaN																	0				breast(1)	1						c.(1741-1743)GAA>AAA		neurofilament, medium polypeptide 150kDa isoform		G	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	34.0	38.0	36.0		1741,613	4.8	0.1	8		36	0,8600		0,0,4300	no	missense,missense	NEFM	NM_005382.2,NM_001105541.1	56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	581/917,205/541	24775109	1,13005	2203	4300	6503	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24775109G>A	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1741G>A	8.37:g.24775109G>A	ENSP00000221166:p.Glu581Lys					NEFM_uc011lac.1_Missense_Mutation_p.E581K|NEFM_uc010lue.2_Missense_Mutation_p.E205K	p.E581K	NM_005382	NP_005373	P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	3	1774	+		Prostate(55;0.157)	581			Tail.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.1741G>A	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.955590	0.00470	2.27E-4	0.0	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	D;D;D;D	0.93811	-1.71;-1.73;-1.64;-3.29	4.81	4.81	0.61882	.	0.291062	0.23819	N	0.044246	D	0.91791	0.7403	M	0.81682	2.555	0.09310	N	1	B;B	0.25312	0.001;0.123	B;B	0.10450	0.001;0.005	D	0.85759	0.1348	10	0.56958	D	0.05	.	8.9408	0.35729	0.1703:0.0:0.8297:0.0	.	581;581	E7EMV2;P07197	.;NFM_HUMAN	K	581;581;581;205	ENSP00000221166:E581K;ENSP00000427872:E581K;ENSP00000410137:E581K;ENSP00000412295:E205K	ENSP00000221166:E581K	E	+	1	0	NEFM	24831014	0.991000	0.36638	0.051000	0.19133	0.083000	0.17756	3.551000	0.53698	2.209000	0.71365	0.313000	0.20887	GAA		0.502	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2		NM_005382		5	23	0	0	0	1	0	5	23		
NEFL	4747	broad.mit.edu	37	8	24811727	24811727	+	RNA	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:24811727C>G	ENST00000221169.5	-	0	1731				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CCAAAGCCATCTTCACGTTGA	0.393																																						uc003xee.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1135-1137)AAG>AAC		neurofilament, light polypeptide 68kDa							286.0	280.0	282.0					8																	24811727		1927	4181	6108			4747				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	g.chr8:24811727C>G		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24811727C>G							p.K379N	NM_006158	NP_006149	P07196	NFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	2	1239	-		Ovarian(32;0.00965)|Prostate(55;0.157)	379			Rod.|Coil 2B.		B9ZVN2|Q16154|Q8IU72	Missense_Mutation	SNP	ENST00000221169.5	37	c.1137G>C																																																																																					0.393	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4		NM_006158		36	139	0	0	0	1	0	36	139		
SCARA5	286133	broad.mit.edu	37	8	27729502	27729502	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:27729502C>T	ENST00000354914.3	-	9	1922	c.1437G>A	c.(1435-1437)gtG>gtA	p.V479V	SCARA5_ENST00000380385.2_Silent_p.V254V	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	479	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		CACAGTTTGTCACCCCCCATT	0.577																																						uc003xgj.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1435-1437)GTG>GTA		scavenger receptor class A, member 5							162.0	116.0	131.0					8																	27729502		2203	4300	6503	SO:0001819	synonymous_variant	286133				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	g.chr8:27729502C>T	AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.1437G>A	8.37:g.27729502C>T						SCARA5_uc010luz.2_Silent_p.V254V	p.V479V	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)	9	1877	-		Ovarian(32;0.0218)	479			SRCR.|Extracellular (Potential).		Q6UXZ1|Q7Z4A1|Q8N4Z7	Silent	SNP	ENST00000354914.3	37	c.1437G>A	CCDS6064.1																																																																																				0.577	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2		NM_173833		23	78	0	0	0	1	0	23	78		
INTS9	55756	broad.mit.edu	37	8	28671062	28671062	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:28671062C>G	ENST00000521022.1	-	7	637	c.556G>C	c.(556-558)Gag>Cag	p.E186Q	INTS9_ENST00000521777.1_Missense_Mutation_p.E162Q|INTS9_ENST00000397363.4_Missense_Mutation_p.E80Q|INTS9_ENST00000416984.2_Missense_Mutation_p.E165Q	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	186					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GAGTTCACCTCTTGCATTGTA	0.413																																						uc003xha.2		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(556-558)GAG>CAG		integrator complex subunit 9 isoform 1							164.0	150.0	154.0					8																	28671062		2203	4300	6503	SO:0001583	missense	55756				snRNA processing	integrator complex	protein binding	g.chr8:28671062C>G	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.556G>C	8.37:g.28671062C>G	ENSP00000429065:p.Glu186Gln					INTS9_uc011lav.1_Missense_Mutation_p.E162Q|INTS9_uc011law.1_Missense_Mutation_p.E165Q|INTS9_uc011lax.1_Missense_Mutation_p.E79Q|INTS9_uc010lvc.2_RNA|INTS9_uc003xhb.2_Missense_Mutation_p.E186Q	p.E186Q	NM_018250	NP_060720	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	7	855	-		Ovarian(32;0.0439)	186					B7Z560|B7Z6M5|O00224|Q8TB16	Missense_Mutation	SNP	ENST00000521022.1	37	c.556G>C	CCDS34873.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.14|19.14	3.768895|3.768895	0.69878|0.69878	.|.	.|.	ENSG00000104299|ENSG00000104299	ENST00000521022;ENST00000416984;ENST00000541706;ENST00000521777;ENST00000397363;ENST00000523436|ENST00000524081	T;T;T;T;T|.	0.47528|.	0.86;0.85;0.84;0.87;0.94|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60104|0.60104	0.2243|0.2243	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B;B;B|.	0.28208|.	0.073;0.203;0.129|.	B;B;B|.	0.25506|.	0.021;0.061;0.028|.	T|T	0.51092|0.51092	-0.8749|-0.8749	10|5	0.44086|.	T|.	0.13|.	-32.8722|-32.8722	20.1672|20.1672	0.98154|0.98154	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	165;186;186|.	B7Z6M5;G3XAN1;Q9NV88|.	.;.;INT9_HUMAN|.	Q|T	186;165;30;162;80;186|148	ENSP00000429065:E186Q;ENSP00000398208:E165Q;ENSP00000430943:E162Q;ENSP00000380520:E80Q;ENSP00000427789:E186Q|.	ENSP00000380520:E80Q|.	E|R	-|-	1|2	0|0	INTS9|INTS9	28726981|28726981	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.378000|7.378000	0.79679|0.79679	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.413	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1		NM_018250		34	101	0	0	0	1	0	34	101		
GSR	2936	broad.mit.edu	37	8	30560623	30560623	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:30560623C>T	ENST00000221130.5	-	5	717	c.627G>A	c.(625-627)gaG>gaA	p.E209E	GSR_ENST00000546342.1_Silent_p.E209E|GSR_ENST00000541648.1_Silent_p.E209E|GSR_ENST00000414019.1_Silent_p.E166E|GSR_ENST00000537535.1_Silent_p.E209E	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	209					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	GGATCTGGCTCTCATGAGGGG	0.527																																						uc003xih.1		NaN																	0				ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(625-627)GAG>GAA		glutathione reductase precursor	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)						225.0	197.0	206.0					8																	30560623		2203	4300	6503	SO:0001819	synonymous_variant	2936				cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity	g.chr8:30560623C>T		CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.627G>A	8.37:g.30560623C>T							p.E209E	NM_000637	NP_000628	P00390	GSHR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	5	718	-			209					C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Silent	SNP	ENST00000221130.5	37	c.627G>A	CCDS34877.1	.	.	.	.	.	.	.	.	.	.	C	0.584	-0.835941	0.02713	.	.	ENSG00000104687	ENST00000520888	T	0.39787	1.06	6.14	0.672	0.17935	.	0.140545	0.64402	D	0.000005	T	0.37785	0.1016	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21109	-1.0255	7	0.51188	T	0.08	-2.2176	0.9344	0.01342	0.1573:0.314:0.153:0.3756	.	.	.	.	K	165	ENSP00000429247:E165K	ENSP00000429247:E165K	E	-	1	0	GSR	30680165	0.096000	0.21769	0.994000	0.49952	0.113000	0.19764	-0.653000	0.05360	0.174000	0.19809	-0.929000	0.02709	GAG		0.527	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376519.1				37	113	0	0	0	1	0	37	113		
PURG	29942	broad.mit.edu	37	8	30889344	30889344	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:30889344C>T	ENST00000475541.1	-	1	1887	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Intron	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	319						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CTCATCTCTTCTTCATACTTG	0.403																																						uc003xin.2		NaN																	0					0						c.(955-957)GAA>AAA		purine-rich element binding protein G isoform A							92.0	92.0	92.0					8																	30889344		1307	2301	3608	SO:0001583	missense	29942					nucleus	DNA binding	g.chr8:30889344C>T	AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.955G>A	8.37:g.30889344C>T	ENSP00000418721:p.Glu319Lys					WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Intron	p.E319K	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)	1	974	-			319					Q8TE64	Missense_Mutation	SNP	ENST00000475541.1	37	c.955G>A	CCDS6081.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559892	0.86335	.	.	ENSG00000172733	ENST00000475541	T	0.34667	1.35	5.1	5.1	0.69264	.	.	.	.	.	T	0.52141	0.1716	M	0.80183	2.485	0.80722	D	1	P	0.38711	0.643	P	0.44673	0.457	T	0.59847	-0.7377	9	0.72032	D	0.01	-7.8091	18.1138	0.89543	0.0:1.0:0.0:0.0	.	319	Q9UJV8	PURG_HUMAN	K	319	ENSP00000418721:E319K	ENSP00000418721:E319K	E	-	1	0	PURG	31008886	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.362000	0.80069	0.655000	0.94253	GAA		0.403	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348565.1		NM_013357		4	3	0	0	0	1	0	4	3		
WRN	7486	broad.mit.edu	37	8	30969307	30969307	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:30969307C>G	ENST00000298139.5	+	19	2514	c.2265C>G	c.(2263-2265)gtC>gtG	p.V755V		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	755	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CATTTCTTGTCAAAACAAGGT	0.328			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	uc003xio.3		NaN	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Mis|N|F|S	Werner syndrome (RECQL2)			"""L, E, M, O"""		osteosarcoma|meningioma|others			0				ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(2263-2265)GTC>GTG	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner syndrome protein							57.0	57.0	57.0					8																	30969307		2203	4300	6503	SO:0001819	synonymous_variant	7486	Werner_syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30969307C>G		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2265C>G	8.37:g.30969307C>G						WRN_uc010lvk.2_Silent_p.V222V	p.V755V	NM_000553	NP_000544	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	19	3053	+		Breast(100;0.195)	755			Helicase C-terminal.		A1KYY9	Silent	SNP	ENST00000298139.5	37	c.2265C>G	CCDS6082.1																																																																																				0.328	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1				13	31	0	0	0	1	0	13	31		
WRN	7486	broad.mit.edu	37	8	31024573	31024573	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:31024573C>T	ENST00000298139.5	+	34	4267	c.4018C>T	c.(4018-4020)Cct>Tct	p.P1340S	RP11-363L24.3_ENST00000521252.1_RNA	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1340					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AATGTTAGTTCCTGAAAACAT	0.343			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	uc003xio.3		NaN	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Mis|N|F|S	Werner syndrome (RECQL2)			"""L, E, M, O"""		osteosarcoma|meningioma|others			0				ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(4018-4020)CCT>TCT	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner syndrome protein							101.0	91.0	94.0					8																	31024573		2203	4300	6503	SO:0001583	missense	7486	Werner_syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:31024573C>T		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.4018C>T	8.37:g.31024573C>T	ENSP00000298139:p.Pro1340Ser					WRN_uc010lvk.2_Missense_Mutation_p.P807S	p.P1340S	NM_000553	NP_000544	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	34	4806	+		Breast(100;0.195)	1340					A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.4018C>T	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869230	0.72065	.	.	ENSG00000165392	ENST00000298139	T	0.57436	0.4	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000001	T	0.74061	0.3667	M	0.77103	2.36	0.45704	D	0.998612	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.76777	-0.2834	10	0.59425	D	0.04	-15.8984	18.4705	0.90773	0.0:1.0:0.0:0.0	.	750;1340	Q59F09;Q14191	.;WRN_HUMAN	S	1340	ENSP00000298139:P1340S	ENSP00000298139:P1340S	P	+	1	0	WRN	31144115	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	4.380000	0.59581	2.624000	0.88883	0.655000	0.94253	CCT		0.343	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1				18	35	0	0	0	1	0	18	35		
FUT10	84750	broad.mit.edu	37	8	33310999	33310999	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:33310999C>T	ENST00000327671.5	-	3	742	c.111G>A	c.(109-111)agG>agA	p.R37R	FUT10_ENST00000335589.3_5'UTR|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000518672.1_Silent_p.R9R|FUT10_ENST00000524021.1_Silent_p.R9R	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	37					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TAAACTCCTTCCTTTCAAACT	0.363																																						uc003xje.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(109-111)AGG>AGA		fucosyltransferase 10							107.0	107.0	107.0					8																	33310999		2203	4300	6503	SO:0001819	synonymous_variant	84750				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr8:33310999C>T	AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"""Fucosyltransferases"""	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.111G>A	8.37:g.33310999C>T						FUT10_uc003xjc.2_Silent_p.R44R|FUT10_uc003xjd.2_Silent_p.R9R|FUT10_uc011lbi.1_Silent_p.R87R|FUT10_uc003xjf.2_5'UTR|FUT10_uc003xjg.2_Silent_p.R9R|FUT10_uc003xjh.2_Silent_p.R37R|FUT10_uc003xji.1_Silent_p.R37R	p.R37R	NM_032664	NP_116053	Q6P4F1	FUT10_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)	3	467	-			37			Lumenal (Potential).		A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Silent	SNP	ENST00000327671.5	37	c.111G>A	CCDS6088.1																																																																																				0.363	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1		NM_032664		19	70	0	0	0	1	0	19	70		
KCNU1	157855	broad.mit.edu	37	8	36698504	36698504	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:36698504C>G	ENST00000399881.3	+	16	1723	c.1686C>G	c.(1684-1686)ctC>ctG	p.L562L		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	562					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACAAGTCCCTCTTTACGGATG	0.403																																						uc010lvw.2		NaN																	0				ovary(1)	1						c.(1684-1686)CTC>CTG		potassium channel, subfamily U, member 1							173.0	154.0	160.0					8																	36698504		1954	4151	6105	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36698504C>G	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1686C>G	8.37:g.36698504C>G						KCNU1_uc003xjw.2_RNA	p.L562L	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	16	1773	+			562			Cytoplasmic (Potential).			Silent	SNP	ENST00000399881.3	37	c.1686C>G	CCDS55220.1																																																																																				0.403	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1		NM_001031836		15	39	0	0	0	1	0	15	39		
FGFR1	2260	broad.mit.edu	37	8	38282030	38282030	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:38282030C>G	ENST00000447712.2	-	7	1874	c.933G>C	c.(931-933)ttG>ttC	p.L311F	FGFR1_ENST00000341462.5_Missense_Mutation_p.L312F|FGFR1_ENST00000397091.5_Missense_Mutation_p.L309F|FGFR1_ENST00000356207.5_Missense_Mutation_p.L222F|FGFR1_ENST00000532791.1_Missense_Mutation_p.L311F|FGFR1_ENST00000397108.4_Missense_Mutation_p.L309F|FGFR1_ENST00000397103.1_Missense_Mutation_p.L220F|FGFR1_ENST00000335922.5_Missense_Mutation_p.L303F|FGFR1_ENST00000425967.3_Missense_Mutation_p.L342F|RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000326324.6_Missense_Mutation_p.L220F|FGFR1_ENST00000397113.2_Missense_Mutation_p.L309F	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	311	Ig-like C2-type 3.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|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 MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TGATTACCTTCAAGATCTGGA	0.567		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	uc003xlp.2		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	Pfeiffer syndrome|Kallman syndrome	L	BCR|FOP|ZNF198|CEP1		MPD|NHL		0				lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15						c.(931-933)TTG>TTC		fibroblast growth factor receptor 1 isoform 1	Palifermin(DB00039)						112.0	122.0	119.0					8																	38282030		2121	4248	6369	SO:0001583	missense	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38282030C>G	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.933G>C	8.37:g.38282030C>G	ENSP00000400162:p.Leu311Phe					FGFR1_uc011lbo.1_Missense_Mutation_p.L309F|FGFR1_uc011lbp.1_Missense_Mutation_p.L222F|FGFR1_uc011lbq.1_Missense_Mutation_p.L220F|FGFR1_uc010lwk.2_Missense_Mutation_p.L303F|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Missense_Mutation_p.L151F|FGFR1_uc011lbt.1_Missense_Mutation_p.L220F|FGFR1_uc011lbu.1_Missense_Mutation_p.L342F|FGFR1_uc011lbv.1_Missense_Mutation_p.L309F|FGFR1_uc011lbw.1_Missense_Mutation_p.L222F|FGFR1_uc011lbx.1_Missense_Mutation_p.L222F|FGFR1_uc003xlv.2_Missense_Mutation_p.L222F|FGFR1_uc003xlu.2_Missense_Mutation_p.L220F	p.L311F	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		7	1875	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	311			Ig-like C2-type 3.|Extracellular (Potential).		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	c.933G>C	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604850	0.66445	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108;ENST00000326296	D;D;D;T;D;D;D;D;D;T;D	0.96200	-3.94;-3.94;-3.94;-0.28;-3.94;-3.94;-3.94;-3.94;-3.94;-0.28;-3.94	6.08	1.94	0.25998	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.124540	0.52532	D	0.000074	D	0.94742	0.8303	L	0.39898	1.24	0.58432	D	0.999997	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;0.997;0.997;0.997;1.0;0.992;0.992;0.998;0.997;1.0;1.0;0.997	P;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.898;0.964;0.955;0.972;0.999;0.943;0.943;0.984;0.964;0.998;0.996;0.972	D	0.92299	0.5848	10	0.87932	D	0	.	3.2466	0.06799	0.1207:0.5488:0.1178:0.2127	.	222;222;309;342;220;220;222;311;303;222;220;311	B5A959;P11362-3;P11362-7;P11362-21;B5A958;P11362-14;P11362-4;P11362;P11362-20;P11362-16;P11362-18;P11362-2	.;.;.;.;.;.;.;FGFR1_HUMAN;.;.;.;.	F	309;342;311;312;311;311;309;222;303;220;220;309;312	ENSP00000380280:L309F;ENSP00000393312:L342F;ENSP00000400162:L311F;ENSP00000340636:L312F;ENSP00000432972:L311F;ENSP00000380302:L309F;ENSP00000348537:L222F;ENSP00000337247:L303F;ENSP00000327229:L220F;ENSP00000380292:L220F;ENSP00000380297:L309F	ENSP00000311337:L311F	L	-	3	2	FGFR1	38401187	0.858000	0.29795	1.000000	0.80357	0.889000	0.51656	-0.115000	0.10741	0.827000	0.34685	-0.150000	0.13652	TTG		0.567	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding					34	73	0	0	0	1	0	34	73		
ADAM18	8749	broad.mit.edu	37	8	39495221	39495221	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:39495221G>C	ENST00000265707.5	+	9	871	c.826G>C	c.(826-828)Gtt>Ctt	p.V276L	ADAM18_ENST00000379866.1_Splice_Site_p.V252L|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	276	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ATACTTACTTGTGTAAGCACA	0.353																																						uc003xni.2		NaN																	0				central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6						c.(826-828)GTT>CTT		a disintegrin and metalloprotease domain 18							81.0	77.0	78.0					8																	39495221		2203	4300	6503	SO:0001630	splice_region_variant	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39495221G>C	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.827+1G>C	8.37:g.39495221G>C						ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.V252L	p.V276L	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		9	826	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	276			Peptidase M12B.|Extracellular (Potential).		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	c.826G>C	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417282	0.25552	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.09630	2.96;2.96	5.3	0.289	0.15723	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.814186	0.10733	N	0.640424	T	0.06050	0.0157	N	0.12853	0.265	0.80722	D	1	B;B	0.14438	0.008;0.01	B;B	0.23150	0.026;0.044	T	0.32640	-0.9899	10	0.29301	T	0.29	.	7.6449	0.28315	0.6235:0.0:0.3765:0.0	.	252;276	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	L	276;252;208	ENSP00000265707:V276L;ENSP00000369195:V252L	ENSP00000265707:V276L	V	+	1	0	ADAM18	39614378	0.993000	0.37304	0.498000	0.27564	0.955000	0.61496	1.454000	0.35178	0.151000	0.19162	-0.312000	0.09012	GTT		0.353	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1		NM_014237	Missense_Mutation	10	18	0	0	0	1	0	10	18		
POTEA	340441	broad.mit.edu	37	8	43147757	43147757	+	RNA	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:43147757G>A	ENST00000522175.2	+	0	132							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAACAACATGGGTGCTTGGAG	0.602																																						uc003xpz.1		NaN																	0				ovary(1)	1						c.(130-132)GGT>AGT		POTE ankyrin domain family, member A isoform 2							62.0	66.0	65.0					8																	43147757		2203	4300	6503			340441							g.chr8:43147757G>A	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43147757G>A						POTEA_uc003xqa.1_Missense_Mutation_p.G44S	p.G44S	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			1	173	+			44					A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37	c.130G>A																																																																																					0.602	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1		NM_001002920		41	113	0	0	0	1	0	41	113		
SPIDR	23514	broad.mit.edu	37	8	48309060	48309060	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:48309060G>C	ENST00000297423.4	+	6	1034	c.650G>C	c.(649-651)aGa>aCa	p.R217T	SPIDR_ENST00000518074.1_Missense_Mutation_p.R157T|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.R147T	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	217	Necessary for interaction with RAD51.				cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											TCGGATGCAAGACAGATTATG	0.408																																						uc003xqd.2		NaN																	0					0						c.(649-651)AGA>ACA		hypothetical protein LOC23514							132.0	128.0	129.0					8																	48309060		1893	4123	6016	SO:0001583	missense	23514							g.chr8:48309060G>C	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.650G>C	8.37:g.48309060G>C	ENSP00000297423:p.Arg217Thr					KIAA0146_uc011lcz.1_Intron|KIAA0146_uc011lda.1_Intron|KIAA0146_uc011ldb.1_Missense_Mutation_p.R217T|KIAA0146_uc010lxs.2_5'UTR|KIAA0146_uc011ldc.1_Missense_Mutation_p.R147T|KIAA0146_uc011ldd.1_Missense_Mutation_p.R157T|KIAA0146_uc003xqe.2_Intron|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Intron	p.R217T	NM_001080394	NP_001073863	Q14159	K0146_HUMAN			6	659	+		Lung NSC(58;0.175)	217					B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	37	c.650G>C	CCDS43737.1	.	.	.	.	.	.	.	.	.	.	G	2.545	-0.305477	0.05495	.	.	ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342	.	.	.	5.28	1.25	0.21368	.	0.647515	0.14106	N	0.341044	T	0.33206	0.0855	M	0.62723	1.935	0.09310	N	1	P;P;P;P	0.46512	0.879;0.879;0.879;0.879	P;P;P;P	0.45449	0.481;0.481;0.481;0.481	T	0.13629	-1.0502	9	0.26408	T	0.33	.	3.8613	0.08998	0.2357:0.0:0.4749:0.2894	.	157;147;217;217	B4E0Y6;B4DFV2;B4DEV5;Q14159	.;.;.;K0146_HUMAN	T	217;157;147	.	ENSP00000297423:R217T	R	+	2	0	KIAA0146	48471613	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.106000	0.10890	0.188000	0.20168	0.650000	0.86243	AGA		0.408	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1		NM_001080394		33	87	0	0	0	1	0	33	87		
SPIDR	23514	broad.mit.edu	37	8	48641546	48641546	+	Silent	SNP	C	C	G	rs182240988		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:48641546C>G	ENST00000297423.4	+	18	2871	c.2487C>G	c.(2485-2487)ctC>ctG	p.L829L	SPIDR_ENST00000518074.1_Silent_p.L769L|SPIDR_ENST00000518060.1_Silent_p.L31L|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Silent_p.L759L|SPIDR_ENST00000517693.1_Silent_p.L304L	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	829					cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											CTCCTGTTCTCAAGAGGCACC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		18816	0.0		0.001	False		,,,				2504	0.0					uc003xqd.2		NaN																	0					0						c.(2485-2487)CTC>CTG		hypothetical protein LOC23514							58.0	61.0	60.0					8																	48641546		2053	4203	6256	SO:0001819	synonymous_variant	23514							g.chr8:48641546C>G	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.2487C>G	8.37:g.48641546C>G						KIAA0146_uc011ldc.1_Silent_p.L759L|KIAA0146_uc011ldd.1_Silent_p.L769L|KIAA0146_uc003xqe.2_Silent_p.L304L|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc010lxt.2_Intron|KIAA0146_uc011ldf.1_Silent_p.L334L|KIAA0146_uc011ldg.1_Silent_p.L319L|KIAA0146_uc003xqg.1_Intron	p.L829L	NM_001080394	NP_001073863	Q14159	K0146_HUMAN			18	2496	+		Lung NSC(58;0.175)	829					B4DFV2|B4E0Y6|Q96BI5	Silent	SNP	ENST00000297423.4	37	c.2487C>G	CCDS43737.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.03	2.713107	0.48517	.	.	ENSG00000164808	ENST00000521056	.	.	.	5.84	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999987	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.2757	0.60186	0.159:0.841:0.0:0.0	.	.	.	.	X	159	.	ENSP00000427790:S159X	S	+	2	0	KIAA0146	48804099	0.996000	0.38824	0.119000	0.21687	0.226000	0.24999	1.485000	0.35519	1.413000	0.46997	0.561000	0.74099	TCA		0.592	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1		NM_001080394		15	78	0	0	0	1	0	15	78		
PCMTD1	115294	broad.mit.edu	37	8	52733177	52733177	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:52733177G>A	ENST00000360540.5	-	7	1214	c.808C>T	c.(808-810)Caa>Taa	p.Q270*	PCMTD1_ENST00000522514.1_Nonsense_Mutation_p.Q270*|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Nonsense_Mutation_p.Q194*	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	270						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				GGAGCCCTTTGAGGAATCCCC	0.428																																						uc003xqx.3		NaN																	0					0						c.(808-810)CAA>TAA		protein-L-isoaspartate (D-aspartate)							116.0	122.0	120.0					8																	52733177		2203	4297	6500	SO:0001587	stop_gained	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733177G>A		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.808C>T	8.37:g.52733177G>A	ENSP00000353739:p.Gln270*					PCMTD1_uc011ldm.1_Nonsense_Mutation_p.Q140*|PCMTD1_uc003xqw.3_Nonsense_Mutation_p.Q270*|PCMTD1_uc011ldn.1_Nonsense_Mutation_p.Q82*|PCMTD1_uc010lya.2_Nonsense_Mutation_p.Q194*	p.Q270*	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			6	1149	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	270					Q96FK9	Nonsense_Mutation	SNP	ENST00000360540.5	37	c.808C>T	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492434	0.84962	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	.	.	.	5.77	5.77	0.91146	.	0.121027	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-31.5839	19.9832	0.97338	0.0:0.0:1.0:0.0	.	.	.	.	X	270;194;270	.	ENSP00000353739:Q270X	Q	-	1	0	PCMTD1	52895730	1.000000	0.71417	0.449000	0.26957	0.992000	0.81027	5.919000	0.70005	2.722000	0.93159	0.655000	0.94253	CAA		0.428	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2		NM_052937		9	143	0	0	0	1	0	9	143		
RB1CC1	9821	broad.mit.edu	37	8	53558413	53558413	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:53558413G>A	ENST00000025008.5	-	16	4359	c.3836C>T	c.(3835-3837)tCt>tTt	p.S1279F	RB1CC1_ENST00000539297.1_Missense_Mutation_p.S1279F|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.S1279F	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1279					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TCCTCTGGTAGAGTCAATGGC	0.308																																					GBM(180;1701 2102 13475 42023 52570)	uc003xre.3		NaN																	0				ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11						c.(3835-3837)TCT>TTT		Rb1-inducible coiled coil protein 1 isoform 1							68.0	75.0	72.0					8																	53558413		2203	4299	6502	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53558413G>A	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.3836C>T	8.37:g.53558413G>A	ENSP00000025008:p.Ser1279Phe					RB1CC1_uc003xrf.3_Missense_Mutation_p.S1279F	p.S1279F	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN			16	4394	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	1279			Potential.		Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.3836C>T	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298033	0.23650	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.16073	2.37;2.37;2.37	5.44	3.42	0.39159	.	0.670270	0.14761	N	0.299978	T	0.12050	0.0293	L	0.27053	0.805	0.35519	D	0.801247	B;B	0.28998	0.23;0.148	B;B	0.29663	0.105;0.049	T	0.14727	-1.0462	10	0.66056	D	0.02	-6.9623	7.1407	0.25554	0.0722:0.1183:0.6719:0.1376	.	1279;1279	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	F	1279	ENSP00000025008:S1279F;ENSP00000396067:S1279F;ENSP00000445960:S1279F	ENSP00000025008:S1279F	S	-	2	0	RB1CC1	53720966	0.953000	0.32496	0.290000	0.24890	0.813000	0.45954	1.917000	0.39996	1.285000	0.44548	0.655000	0.94253	TCT		0.308	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1		NM_014781		16	39	0	0	0	1	0	16	39		
RP1	6101	broad.mit.edu	37	8	55537354	55537354	+	Missense_Mutation	SNP	G	G	C	rs189145468	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:55537354G>C	ENST00000220676.1	+	4	1060	c.912G>C	c.(910-912)aaG>aaC	p.K304N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	304					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCTTAGAAAAGAATGATTCTC	0.318																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NaN																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(910-912)AAG>AAC		retinitis pigmentosa RP1 protein							62.0	67.0	65.0					8																	55537354		2202	4298	6500	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55537354G>C	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.912G>C	8.37:g.55537354G>C	ENSP00000220676:p.Lys304Asn					RP1_uc011ldy.1_Intron	p.K304N	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1060	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	304						Missense_Mutation	SNP	ENST00000220676.1	37	c.912G>C	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177136	0.38413	.	.	ENSG00000104237	ENST00000220676	T	0.23950	1.88	5.19	3.96	0.45880	.	0.096213	0.45867	D	0.000327	T	0.36082	0.0954	M	0.62723	1.935	0.24518	N	0.994175	D	0.63880	0.993	P	0.53954	0.738	T	0.19614	-1.0300	10	0.72032	D	0.01	.	8.1765	0.31285	0.8436:0.0:0.1564:0.0	.	304	P56715	RP1_HUMAN	N	304	ENSP00000220676:K304N	ENSP00000220676:K304N	K	+	3	2	RP1	55699907	0.998000	0.40836	1.000000	0.80357	0.900000	0.52787	1.721000	0.38032	0.820000	0.34516	-0.290000	0.09829	AAG		0.318	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2		NM_006269		4	35	0	0	0	1	0	4	35		
RP1	6101	broad.mit.edu	37	8	55538471	55538471	+	Nonsense_Mutation	SNP	C	C	T	rs104894082		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:55538471C>T	ENST00000220676.1	+	4	2177	c.2029C>T	c.(2029-2031)Cga>Tga	p.R677*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	677					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAAAAAATCTCGACAGCAAGC	0.323																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NaN																	0				skin(7)|ovary(4)|pancreas(1)	12	GRCh37	CD992276|CM991103	RP1	D|M	rs104894082	c.(2029-2031)CGA>TGA		retinitis pigmentosa RP1 protein							35.0	36.0	36.0					8																	55538471		2200	4295	6495	SO:0001587	stop_gained	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55538471C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2029C>T	8.37:g.55538471C>T	ENSP00000220676:p.Arg677*					RP1_uc011ldy.1_Intron	p.R677*	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	2177	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	677						Nonsense_Mutation	SNP	ENST00000220676.1	37	c.2029C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463403	0.84425	.	.	ENSG00000104237	ENST00000220676	.	.	.	5.67	4.79	0.61399	.	0.558310	0.16232	N	0.223570	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	11.8325	0.52303	0.2061:0.679:0.1149:0.0	.	.	.	.	X	677	.	ENSP00000220676:R677X	R	+	1	2	RP1	55701024	0.327000	0.24678	0.653000	0.29593	0.038000	0.13279	3.094000	0.50227	1.392000	0.46585	0.591000	0.81541	CGA		0.323	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2		NM_006269		9	25	0	0	0	1	0	9	25		
CHD7	55636	broad.mit.edu	37	8	61693580	61693580	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:61693580C>T	ENST00000423902.2	+	3	2166	c.1687C>T	c.(1687-1689)Cta>Tta	p.L563L	CHD7_ENST00000525508.1_Silent_p.L563L|CHD7_ENST00000524602.1_Silent_p.L563L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	563	Pro-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGAGCCCTTTCTAGAGAAACC	0.433																																						uc003xue.2		NaN																	1	Insertion - In frame(1)	p.556_871dup(1)	lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(1687-1689)CTA>TTA		chromodomain helicase DNA binding protein 7							43.0	42.0	43.0					8																	61693580		1888	4118	6006	SO:0001819	synonymous_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61693580C>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.1687C>T	8.37:g.61693580C>T							p.L563L	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		3	2164	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	563			Pro-rich.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.1687C>T	CCDS47865.1																																																																																				0.433	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2		XM_098762		5	16	0	0	0	1	0	5	16		
CHD7	55636	broad.mit.edu	37	8	61773577	61773577	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:61773577G>C	ENST00000423902.2	+	35	8202	c.7723G>C	c.(7723-7725)Gaa>Caa	p.E2575Q	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2575					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TATCAATCTTGAAGATGGGAC	0.458																																						uc003xue.2		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(7723-7725)GAA>CAA		chromodomain helicase DNA binding protein 7							83.0	82.0	82.0					8																	61773577		1933	4140	6073	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61773577G>C	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.7723G>C	8.37:g.61773577G>C	ENSP00000392028:p.Glu2575Gln						p.E2575Q	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		35	8200	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2575					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.7723G>C	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608961	0.46527	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.45668	0.89	5.73	5.73	0.89815	BRK domain (2);	0.071297	0.56097	D	0.000022	T	0.36744	0.0978	N	0.08118	0	0.47476	D	0.999438	P	0.52170	0.951	P	0.51918	0.684	T	0.17715	-1.0360	10	0.21540	T	0.41	-22.3478	19.9036	0.96999	0.0:0.0:1.0:0.0	.	2575	Q9P2D1	CHD7_HUMAN	Q	2575	ENSP00000392028:E2575Q	ENSP00000307304:E2575Q	E	+	1	0	CHD7	61936131	1.000000	0.71417	0.996000	0.52242	0.812000	0.45895	5.944000	0.70219	2.706000	0.92434	0.655000	0.94253	GAA		0.458	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2		XM_098762		16	47	0	0	0	1	0	16	47		
VCPIP1	80124	broad.mit.edu	37	8	67576660	67576660	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:67576660C>T	ENST00000310421.4	-	1	2792	c.2534G>A	c.(2533-2535)aGa>aAa	p.R845K		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	845					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TATTGTAATTCTGTCGCCATG	0.428																																					NSCLC(179;265 2915 6144 43644)	uc003xwn.2		NaN																	0				lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8						c.(2533-2535)AGA>AAA		valosin containing protein (p97)/p47 complex							103.0	105.0	104.0					8																	67576660		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67576660C>T	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.2534G>A	8.37:g.67576660C>T	ENSP00000309031:p.Arg845Lys						p.R845K	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	2793	-		Lung NSC(129;0.142)|all_lung(136;0.227)	845					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.2534G>A	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.197003	0.58126	.	.	ENSG00000175073	ENST00000310421	T	0.32753	1.44	5.52	4.64	0.57946	.	0.047077	0.85682	D	0.000000	T	0.23926	0.0579	L	0.34521	1.04	0.50813	D	0.999896	B	0.06786	0.001	B	0.04013	0.001	T	0.03112	-1.1071	10	0.30078	T	0.28	-13.9223	13.7564	0.62940	0.0:0.9262:0.0:0.0738	.	845	Q96JH7	VCIP1_HUMAN	K	845	ENSP00000309031:R845K	ENSP00000309031:R845K	R	-	2	0	VCPIP1	67739214	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.644000	0.61397	2.578000	0.87016	0.655000	0.94253	AGA		0.428	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1				20	61	0	0	0	1	0	20	61		
PREX2	80243	broad.mit.edu	37	8	69039652	69039652	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:69039652C>T	ENST00000288368.4	+	31	4041	c.3764C>T	c.(3763-3765)tCa>tTa	p.S1255L		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	1255					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)			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						CTTGAATATTCAGGTAACATT	0.353																																						uc003xxv.1		NaN																	0				skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(3763-3765)TCA>TTA		DEP domain containing 2 isoform a							164.0	156.0	159.0					8																	69039652		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.chr8:69039652C>T	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.3764C>T	8.37:g.69039652C>T	ENSP00000288368:p.Ser1255Leu						p.S1255L	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			31	3791	+			1255					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.3764C>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113936	0.77210	.	.	ENSG00000046889	ENST00000288368	T	0.59638	0.25	5.8	5.8	0.92144	.	0.139869	0.46442	D	0.000289	T	0.51160	0.1658	L	0.29908	0.895	0.80722	D	1	B	0.16396	0.017	B	0.23150	0.044	T	0.41270	-0.9518	10	0.46703	T	0.11	.	19.6537	0.95828	0.0:1.0:0.0:0.0	.	1255	Q70Z35	PREX2_HUMAN	L	1255	ENSP00000288368:S1255L	ENSP00000288368:S1255L	S	+	2	0	PREX2	69202206	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.258000	0.72487	2.741000	0.93983	0.650000	0.86243	TCA		0.353	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1		NM_025170		15	55	0	0	0	1	0	15	55		
KCNB2	9312	broad.mit.edu	37	8	73848659	73848659	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:73848659G>A	ENST00000523207.1	+	3	1657	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	357					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	ATTTTTTGCTGAGAAGGATGA	0.448																																						uc003xzb.2		NaN																	0				skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(1069-1071)GAG>AAG		potassium voltage-gated channel, Shab-related							118.0	121.0	120.0					8																	73848659		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848659G>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1069G>A	8.37:g.73848659G>A	ENSP00000430846:p.Glu357Lys						p.E357K	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1657	+	Breast(64;0.137)		357					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1069G>A	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132693	0.77662	.	.	ENSG00000182674	ENST00000523207	D	0.98717	-5.09	5.58	5.58	0.84498	Ion transport (1);	0.000000	0.46145	D	0.000319	D	0.99459	0.9808	H	0.97465	4.01	0.54753	D	0.999981	D	0.89917	1.0	D	0.87578	0.998	D	0.98310	1.0523	10	0.87932	D	0	.	14.8039	0.69938	0.0712:0.0:0.9288:0.0	.	357	Q92953	KCNB2_HUMAN	K	357	ENSP00000430846:E357K	ENSP00000430846:E357K	E	+	1	0	KCNB2	74011213	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.626000	0.88956	0.655000	0.94253	GAG		0.448	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1		NM_004770		42	128	0	0	0	1	0	42	128		
ZFHX4	79776	broad.mit.edu	37	8	77775830	77775830	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:77775830G>A	ENST00000521891.2	+	11	10328	c.9880G>A	c.(9880-9882)Gag>Aag	p.E3294K	ZFHX4_ENST00000455469.2_Missense_Mutation_p.E3249K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E3245K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E3268K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTGTGGCATGGAGAGCCTCTT	0.527										HNSCC(33;0.089)																												uc003yav.2		NaN																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(9745-9747)GAG>AAG		zinc finger homeodomain 4							65.0	64.0	65.0					8																	77775830		1909	4113	6022	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77775830G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9880G>A	8.37:g.77775830G>A	ENSP00000430497:p.Glu3294Lys	HNSCC(33;0.089)					p.E3249K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		11	10132	+			3245					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.9745G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254212	0.59212	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.55588	0.52;0.57;0.52;0.51	5.03	5.03	0.67393	.	0.148797	0.30419	U	0.009664	T	0.65396	0.2687	L	0.39898	1.24	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.63523	-0.6618	10	0.41790	T	0.15	.	18.5644	0.91112	0.0:0.0:1.0:0.0	.	3249	Q86UP3-4	.	K	3294;3278;3249;3245;3268	ENSP00000430497:E3294K;ENSP00000399605:E3249K;ENSP00000050961:E3245K;ENSP00000430848:E3268K	ENSP00000050961:E3245K	E	+	1	0	ZFHX4	77938385	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.542000	0.98086	2.636000	0.89361	0.655000	0.94253	GAG		0.527	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721		17	51	0	0	0	1	0	17	51		
SNX16	64089	broad.mit.edu	37	8	82714735	82714735	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:82714735C>G	ENST00000345957.4	-	7	1097		c.e7-1		RP13-923O23.6_ENST00000524337.1_RNA|SNX16_ENST00000396330.2_Splice_Site|SNX16_ENST00000353788.4_Splice_Site	NM_152836.2	NP_690049.1	P57768	SNX16_HUMAN	sorting nexin 16						early endosome to late endosome transport (GO:0045022)|endosome to lysosome transport (GO:0008333)|protein targeting to lysosome (GO:0006622)	early endosome (GO:0005769)|extrinsic component of endosome membrane (GO:0031313)|late endosome (GO:0005770)|lysosome (GO:0005764)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						AGACAATGTTCTAAAAGTATG	0.368																																						uc011lft.1		NaN																	0				ovary(1)|pancreas(1)	2						c.e8-1		sorting nexin 16 isoform a							84.0	79.0	80.0					8																	82714735		2203	4300	6503	SO:0001630	splice_region_variant	64089				cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding	g.chr8:82714735C>G	AF305779	CCDS6234.1, CCDS6235.1	8q21.13	2011-05-03			ENSG00000104497	ENSG00000104497		"""Sorting nexins"""	14980	protein-coding gene	gene with protein product		614903				12461558, 12813048	Standard	NM_152837		Approved		uc003ycn.3	P57768	OTTHUMG00000164727	ENST00000345957.4:c.819-1G>C	8.37:g.82714735C>G						SNX16_uc003ycn.2_Splice_Site_p.R273_splice|SNX16_uc003yco.2_Splice_Site_p.R244_splice	p.R273_splice	NM_022133	NP_071416	P57768	SNX16_HUMAN			8	1326	-								A8K4D8|Q658L0|Q8N4U3	Splice_Site	SNP	ENST00000345957.4	37	c.819_splice	CCDS6234.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824252	0.32237	.	.	ENSG00000104497	ENST00000353788;ENST00000396330;ENST00000345957	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5263	0.87801	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SNX16	82877290	1.000000	0.71417	0.852000	0.33557	0.244000	0.25665	4.743000	0.62110	2.879000	0.98667	0.650000	0.86243	.		0.368	SNX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379929.1		NM_022133	Intron	5	21	0	0	0	1	0	5	21		
RUNX1T1	862	broad.mit.edu	37	8	92972658	92972658	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:92972658C>G	ENST00000523629.1	-	12	2081	c.1627G>C	c.(1627-1629)Gac>Cac	p.D543H	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D506H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D554H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D506H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D516H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D506H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D516H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D543H	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	543					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCTCCCAGTCTTTGTGCTGG	0.567																																						uc003yfd.2		NaN																	0				lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(1627-1629)GAC>CAC		acute myelogenous leukemia 1 translocation 1							90.0	79.0	83.0					8																	92972658		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92972658C>G	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1627G>C	8.37:g.92972658C>G	ENSP00000428543:p.Asp543His					RUNX1T1_uc003yfc.1_Missense_Mutation_p.D516H|RUNX1T1_uc003yfe.1_Missense_Mutation_p.D506H|RUNX1T1_uc010mao.2_Missense_Mutation_p.D516H|RUNX1T1_uc011lgi.1_Missense_Mutation_p.D554H|uc010mam.2_5'Flank|RUNX1T1_uc010man.1_Missense_Mutation_p.D168H|RUNX1T1_uc003yfb.1_Missense_Mutation_p.D506H	p.D543H	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		11	1711	-			543			MYND-type.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1627G>C	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233862	0.79688	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.52057	0.68;0.74;0.68;0.76;0.76;0.76;0.71;0.74	5.86	5.86	0.93980	Zinc finger, MYND-type (3);	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	L	0.28776	0.89	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.986;1.0;1.0;0.999	T	0.59968	-0.7354	10	0.52906	T	0.07	-24.1858	20.1802	0.98196	0.0:1.0:0.0:0.0	.	554;506;543;516	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	H	543;516;543;506;506;506;554;516	ENSP00000428543:D543H;ENSP00000379520:D516H;ENSP00000265814:D543H;ENSP00000353504:D506H;ENSP00000390137:D506H;ENSP00000428742:D506H;ENSP00000402257:D554H;ENSP00000430728:D516H	ENSP00000265814:D543H	D	-	1	0	RUNX1T1	93041834	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.777000	0.95525	0.655000	0.94253	GAC		0.567	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3		NM_004349, NM_175635		19	42	0	0	0	1	0	19	42		
TMEM67	91147	broad.mit.edu	37	8	94808168	94808168	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:94808168C>G	ENST00000453321.3	+	18	1871	c.1813C>G	c.(1813-1815)Cag>Gag	p.Q605E	TMEM67_ENST00000409623.3_Missense_Mutation_p.Q524E	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	605					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AATGCCAATTCAGGAAGAACG	0.343																																						uc011lgk.1		NaN																	0				ovary(2)	2						c.(1813-1815)CAG>GAG		meckelin isoform 1							150.0	150.0	150.0					8																	94808168		2202	4300	6502	SO:0001583	missense	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94808168C>G	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.1813C>G	8.37:g.94808168C>G	ENSP00000389998:p.Gln605Glu					TMEM67_uc010maw.2_Missense_Mutation_p.Q311E|TMEM67_uc003yga.3_Missense_Mutation_p.Q524E|TMEM67_uc011lgl.1_Missense_Mutation_p.Q4E	p.Q605E	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		18	1884	+	Breast(36;4.14e-07)		605					B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	ENST00000453321.3	37	c.1813C>G	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266346	0.40095	.	.	ENSG00000164953	ENST00000453321;ENST00000409623	D;D	0.96940	-4.18;-4.18	5.28	5.28	0.74379	.	0.059048	0.64402	D	0.000002	D	0.92961	0.7760	L	0.41415	1.275	0.58432	D	0.999997	B;B;B	0.30793	0.295;0.153;0.126	B;B;B	0.28916	0.087;0.096;0.058	D	0.90703	0.4622	10	0.20046	T	0.44	-6.7765	14.8379	0.70197	0.0:0.8564:0.1436:0.0	.	605;524;524	Q5HYA8;B3KRU5;G5E9H2	MKS3_HUMAN;.;.	E	605;524	ENSP00000389998:Q605E;ENSP00000386966:Q524E	ENSP00000314488:Q595E	Q	+	1	0	TMEM67	94877344	1.000000	0.71417	0.828000	0.32881	0.897000	0.52465	4.372000	0.59530	2.637000	0.89404	0.557000	0.71058	CAG		0.343	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2		NM_153704		30	71	0	0	0	1	0	30	71		
KIAA1429	25962	broad.mit.edu	37	8	95527162	95527162	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:95527162C>A	ENST00000297591.5	-	11	2761	c.2686G>T	c.(2686-2688)Gaa>Taa	p.E896*	KIAA1429_ENST00000421249.2_Nonsense_Mutation_p.E896*|KIAA1429_ENST00000437199.1_Nonsense_Mutation_p.E896*	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	896					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTCAGAGGTTCAAGCCACTTG	0.264																																						uc003ygo.1		NaN																	0				ovary(1)|skin(1)	2						c.(2686-2688)GAA>TAA		hypothetical protein LOC25962 isoform 1							69.0	67.0	68.0					8																	95527162		2201	4298	6499	SO:0001587	stop_gained	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95527162C>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.2686G>T	8.37:g.95527162C>A	ENSP00000297591:p.Glu896*					KIAA1429_uc003ygp.2_Nonsense_Mutation_p.E896*|KIAA1429_uc010maz.1_RNA	p.E896*	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		11	2699	-	Breast(36;3.29e-05)		896					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Nonsense_Mutation	SNP	ENST00000297591.5	37	c.2686G>T	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	41	8.837264	0.98972	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	.	.	.	5.62	5.62	0.85841	.	0.052228	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-18.2659	19.6714	0.95912	0.0:1.0:0.0:0.0	.	.	.	.	X	896	.	ENSP00000297591:E896X	E	-	1	0	KIAA1429	95596338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.779000	0.75057	2.654000	0.90174	0.563000	0.77884	GAA		0.264	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2		NM_015496		10	14	1	0	0.0581538	1	0.0583952	10	14		
UBR5	51366	broad.mit.edu	37	8	103266703	103266703	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:103266703C>T	ENST00000520539.1	-	59	8833	c.8227G>A	c.(8227-8229)Gaa>Aaa	p.E2743K	UBR5_ENST00000518205.1_Missense_Mutation_p.E471K|UBR5_ENST00000521922.1_Missense_Mutation_p.E2736K|UBR5_ENST00000220959.4_Missense_Mutation_p.E2742K|KB-431C1.5_ENST00000606361.1_RNA|KB-431C1.4_ENST00000499653.1_RNA|KB-431C1.4_ENST00000520820.1_RNA	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2743	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.|Pro-rich.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AATCCTTCTTCACTGGCTGGC	0.418																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NaN																	0				lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(8227-8229)GAA>AAA		ubiquitin protein ligase E3 component n-recognin							167.0	149.0	155.0					8																	103266703		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103266703C>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.8227G>A	8.37:g.103266703C>T	ENSP00000429084:p.Glu2743Lys					UBR5_uc003yks.1_Missense_Mutation_p.E2742K|UBR5_uc003ykq.2_Missense_Mutation_p.E254K	p.E2743K	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		59	8260	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2743			Pro-rich.|HECT.		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.8227G>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376697	0.82682	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.64	5.64	0.86602	HECT (4);	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	M	0.71206	2.165	0.80722	D	1	D;D	0.53151	0.958;0.958	D;P	0.64687	0.928;0.889	T	0.66164	-0.5992	10	0.66056	D	0.02	.	19.7009	0.96052	0.0:1.0:0.0:0.0	.	2736;2743	E7EMW7;O95071	.;UBR5_HUMAN	K	2743;2742;471;2736	ENSP00000429084:E2743K;ENSP00000220959:E2742K;ENSP00000428693:E471K;ENSP00000427819:E2736K	ENSP00000220959:E2742K	E	-	1	0	UBR5	103335879	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.646000	0.89796	0.563000	0.77884	GAA		0.418	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2		NM_015902		15	46	0	0	0	1	0	15	46		
EXT1	2131	broad.mit.edu	37	8	118847773	118847773	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:118847773C>T	ENST00000378204.2	-	3	1880	c.1074G>A	c.(1072-1074)gtG>gtA	p.V358V		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	358					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TGCTGAGCATCACAGGGACGC	0.478			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													uc003yok.1		NaN	yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	Mis|N|F|S	multiple exostoses type 1 gene			M		exostoses|osteosarcoma			0				ovary(2)|lung(2)	4						c.(1072-1074)GTG>GTA		exostosin 1							104.0	89.0	94.0					8																	118847773		2203	4300	6503	SO:0001819	synonymous_variant	2131	Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:118847773C>T	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1074G>A	8.37:g.118847773C>T							p.V358V	NM_000127	NP_000118	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		3	1847	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		358			Lumenal (Potential).		B2R7V2|Q9BVI9	Silent	SNP	ENST00000378204.2	37	c.1074G>A	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	c	14.45	2.538038	0.45176	.	.	ENSG00000182197	ENST00000436216	.	.	.	5.77	2.96	0.34315	.	.	.	.	.	T	0.61362	0.2341	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56050	-0.8043	4	.	.	.	-22.0441	11.1176	0.48270	0.0:0.795:0.0:0.205	.	.	.	.	N	148	.	.	D	-	1	0	EXT1	118916954	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.954000	0.29175	0.424000	0.26061	0.655000	0.94253	GAT		0.478	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3		NM_000127		15	41	0	0	0	1	0	15	41		
COL14A1	7373	broad.mit.edu	37	8	121282363	121282363	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:121282363C>A	ENST00000297848.3	+	26	3433	c.3163C>A	c.(3163-3165)Cta>Ata	p.L1055I	COL14A1_ENST00000247781.3_Missense_Mutation_p.L960I|COL14A1_ENST00000309791.4_Missense_Mutation_p.L1055I|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CATCAGCTTTCTATACAGCAC	0.383																																						uc003yox.2		NaN																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(3163-3165)CTA>ATA		collagen, type XIV, alpha 1 precursor							99.0	93.0	95.0					8																	121282363		2203	4299	6502	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121282363C>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3163C>A	8.37:g.121282363C>A	ENSP00000297848:p.Leu1055Ile					COL14A1_uc003yoz.2_Missense_Mutation_p.L20I	p.L1055I	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		26	3428	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1055			VWFA 2.			Missense_Mutation	SNP	ENST00000297848.3	37	c.3163C>A	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475191	0.43942	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	D;D;D	0.82893	-1.66;-1.66;-1.66	5.21	4.34	0.51931	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.84170	0.5413	L	0.33093	0.98	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.81102	-0.1085	10	0.26408	T	0.33	.	10.2117	0.43145	0.0:0.8493:0.0:0.1507	.	1055	Q05707	COEA1_HUMAN	I	1055;1055;960	ENSP00000311809:L1055I;ENSP00000297848:L1055I;ENSP00000247781:L960I	ENSP00000247781:L960I	L	+	1	2	COL14A1	121351544	0.996000	0.38824	0.994000	0.49952	0.967000	0.64934	2.598000	0.46223	1.437000	0.47472	0.561000	0.74099	CTA		0.383	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2		NM_021110		6	36	1	0	3.59834e-05	1	3.66325e-05	6	36		
TBC1D31	93594	broad.mit.edu	37	8	124146406	124146406	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:124146406G>C	ENST00000287380.1	+	17	2549	c.2459G>C	c.(2458-2460)aGa>aCa	p.R820T	TBC1D31_ENST00000327098.5_Intron|TBC1D31_ENST00000521676.1_Missense_Mutation_p.R697T|TBC1D31_ENST00000518805.1_Missense_Mutation_p.R374T|TBC1D31_ENST00000309336.3_Missense_Mutation_p.R820T|TBC1D31_ENST00000522420.1_Missense_Mutation_p.R715T|TBC1D31_ENST00000378080.2_3'UTR	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	820						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										CTAGAAATGAGACAGCTGGAA	0.378																																						uc003ypp.1		NaN																	0				skin(1)	1						c.(2458-2460)AGA>ACA		WD repeat domain 67 isoform 1							89.0	93.0	92.0					8																	124146406		2203	4300	6503	SO:0001583	missense	93594					centrosome	Rab GTPase activator activity	g.chr8:124146406G>C	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.2459G>C	8.37:g.124146406G>C	ENSP00000287380:p.Arg820Thr					WDR67_uc011lig.1_Intron|WDR67_uc011lih.1_Missense_Mutation_p.R710T|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.R454T|WDR67_uc003ypt.1_Missense_Mutation_p.R277T|WDR67_uc003ypu.1_Missense_Mutation_p.R277T	p.R820T	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		17	2549	+	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		820			Potential.		B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	ENST00000287380.1	37	c.2459G>C	CCDS6338.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054808	0.36277	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000522420;ENST00000521676;ENST00000518805	D;T;D;D;D	0.85556	-2.0;-0.24;-2.0;-2.0;-2.0	5.49	2.28	0.28536	.	0.239612	0.39341	N	0.001387	T	0.81108	0.4754	L	0.32530	0.975	0.80722	D	1	P;D;P	0.60575	0.865;0.988;0.745	P;P;B	0.50934	0.604;0.654;0.276	T	0.79436	-0.1804	10	0.54805	T	0.06	-17.1269	9.3395	0.38071	0.3272:0.0:0.6728:0.0	.	820;715;820	Q96DN5-2;E7ERK7;Q96DN5	.;.;WDR67_HUMAN	T	820;820;715;697;374	ENSP00000287380:R820T;ENSP00000308358:R820T;ENSP00000429334:R715T;ENSP00000430628:R697T;ENSP00000429494:R374T	ENSP00000287380:R820T	R	+	2	0	WDR67	124215587	1.000000	0.71417	0.973000	0.42090	0.130000	0.20726	2.746000	0.47467	0.697000	0.31718	-0.150000	0.13652	AGA		0.378	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1		NM_145647		27	69	0	0	0	1	0	27	69		
FER1L6	654463	broad.mit.edu	37	8	124968267	124968267	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:124968267G>C	ENST00000522917.1	+	2	235	c.29G>C	c.(28-30)aGa>aCa	p.R10T	FER1L6_ENST00000399018.1_Missense_Mutation_p.R10T	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	10						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGAAGAAGAGAAATAAGGCA	0.463																																						uc003yqw.2		NaN																	0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(28-30)AGA>ACA		fer-1-like 6							56.0	56.0	56.0					8																	124968267		1905	4118	6023	SO:0001583	missense	654463					integral to membrane		g.chr8:124968267G>C	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.29G>C	8.37:g.124968267G>C	ENSP00000428280:p.Arg10Thr						p.R10T	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		2	235	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		10			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000522917.1	37	c.29G>C	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917293	0.33815	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.81247	-1.47;-1.47	5.73	4.5	0.54988	.	0.000000	0.42964	U	0.000623	T	0.62405	0.2425	N	0.08118	0	0.24923	N	0.991967	B	0.19817	0.039	B	0.18871	0.023	T	0.55438	-0.8141	10	0.49607	T	0.09	.	9.5118	0.39082	0.9184:0.0:0.0816:0.0	.	10	Q2WGJ9	FR1L6_HUMAN	T	10	ENSP00000428280:R10T;ENSP00000381982:R10T	ENSP00000381982:R10T	R	+	2	0	FER1L6	125037448	1.000000	0.71417	0.999000	0.59377	0.710000	0.40934	1.746000	0.38288	1.094000	0.41399	-0.290000	0.09829	AGA		0.463	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1		NM_001039112		9	23	0	0	0	1	0	9	23		
NDUFB9	4715	broad.mit.edu	37	8	125555327	125555327	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:125555327G>C	ENST00000276689.3	+	2	185		c.e2-1		NDUFB9_ENST00000518008.1_Splice_Site|NDUFB9_ENST00000522532.1_Splice_Site|NDUFB9_ENST00000517367.1_Intron	NM_001278646.1|NM_005005.2	NP_001265575.1|NP_004996.1	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTGGTTTAAGAGACAAATAC	0.453																																						uc003yrg.3		NaN																	0				ovary(1)|skin(1)	2						c.e2-1		NADH dehydrogenase (ubiquinone) 1 beta	NADH(DB00157)						73.0	73.0	73.0					8																	125555327		2203	4300	6503	SO:0001630	splice_region_variant	4715				mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr8:125555327G>C	AF044956	CCDS6352.1	8q24.13	2011-07-04	2002-08-29		ENSG00000147684	ENSG00000147684		"""LYR motif containing"", ""Mitochondrial respiratory chain complex / Complex I"""	7704	protein-coding gene	gene with protein product	"""complex I B22 subunit"""	601445	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22)"""			8661098	Standard	NM_005005		Approved	B22, UQOR22, LYRM3	uc003yrg.4	Q9Y6M9	OTTHUMG00000165054	ENST00000276689.3:c.102-1G>C	8.37:g.125555327G>C						NDUFB9_uc011lim.1_Splice_Site_p.R34_splice	p.R34_splice	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	187	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)							B2R8M6|Q9UQE8	Splice_Site	SNP	ENST00000276689.3	37	c.102_splice	CCDS6352.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829683	0.71258	.	.	ENSG00000147684	ENST00000276689;ENST00000518008;ENST00000522532	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3193	0.94231	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NDUFB9	125624508	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.536000	0.82023	2.559000	0.86315	0.655000	0.94253	.		0.453	NDUFB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381606.1		NM_005005	Intron	14	63	0	0	0	1	0	14	63		
NDUFB9	4715	broad.mit.edu	37	8	125555347	125555347	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:125555347G>C	ENST00000276689.3	+	2	205	c.121G>C	c.(121-123)Gct>Cct	p.A41P	NDUFB9_ENST00000518008.1_Missense_Mutation_p.A41P|NDUFB9_ENST00000522532.1_Missense_Mutation_p.A41P|NDUFB9_ENST00000517367.1_Intron	NM_001278646.1|NM_005005.2	NP_001265575.1|NP_004996.1	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	41					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CCGATACTTTGCTTGTTTGAT	0.448																																						uc003yrg.3		NaN																	0				ovary(1)|skin(1)	2						c.(121-123)GCT>CCT		NADH dehydrogenase (ubiquinone) 1 beta	NADH(DB00157)						85.0	82.0	83.0					8																	125555347		2203	4300	6503	SO:0001583	missense	4715				mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr8:125555347G>C	AF044956	CCDS6352.1	8q24.13	2011-07-04	2002-08-29		ENSG00000147684	ENSG00000147684		"""LYR motif containing"", ""Mitochondrial respiratory chain complex / Complex I"""	7704	protein-coding gene	gene with protein product	"""complex I B22 subunit"""	601445	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22)"""			8661098	Standard	NM_005005		Approved	B22, UQOR22, LYRM3	uc003yrg.4	Q9Y6M9	OTTHUMG00000165054	ENST00000276689.3:c.121G>C	8.37:g.125555347G>C	ENSP00000276689:p.Ala41Pro					NDUFB9_uc011lim.1_Missense_Mutation_p.A41P	p.A41P	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	206	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		41					B2R8M6|Q9UQE8	Missense_Mutation	SNP	ENST00000276689.3	37	c.121G>C	CCDS6352.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028130	0.93518	.	.	ENSG00000147684	ENST00000276689;ENST00000518008;ENST00000522532	T;T;T	0.70045	-0.45;-0.45;-0.45	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.85869	0.5797	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	D	0.88357	0.2985	10	0.72032	D	0.01	-15.8003	19.3193	0.94231	0.0:0.0:1.0:0.0	.	41;41	E9PF49;Q9Y6M9	.;NDUB9_HUMAN	P	41	ENSP00000276689:A41P;ENSP00000428282:A41P;ENSP00000431115:A41P	ENSP00000276689:A41P	A	+	1	0	NDUFB9	125624528	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.359000	0.97115	2.559000	0.86315	0.655000	0.94253	GCT		0.448	NDUFB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381606.1		NM_005005		15	67	0	0	0	1	0	15	67		
KIAA0196	9897	broad.mit.edu	37	8	126036882	126036882	+	Missense_Mutation	SNP	C	C	T	rs35499702		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:126036882C>T	ENST00000318410.7	-	29	3806	c.3457G>A	c.(3457-3459)Gat>Aat	p.D1153N	KIAA0196_ENST00000517845.1_Missense_Mutation_p.D1005N	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	1153					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTGAACTCATCAAAAATGAAA	0.318																																						uc003yrt.2		NaN																	0				ovary(2)	2						c.(3457-3459)GAT>AAT		strumpellin							88.0	85.0	86.0					8																	126036882		2203	4300	6503	SO:0001583	missense	9897				cell death	WASH complex		g.chr8:126036882C>T		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.3457G>A	8.37:g.126036882C>T	ENSP00000318016:p.Asp1153Asn					KIAA0196_uc011lir.1_Missense_Mutation_p.D1005N	p.D1153N	NM_014846	NP_055661	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		29	3786	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		1153					A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	c.3457G>A	CCDS6355.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013094	0.93346	.	.	ENSG00000164961	ENST00000318410;ENST00000517845	D;D	0.88354	-2.37;-2.36	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.93132	0.7813	L	0.53249	1.67	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	D	0.92182	0.5752	10	0.44086	T	0.13	-24.7945	19.7398	0.96223	0.0:1.0:0.0:0.0	.	1153	Q12768	STRUM_HUMAN	N	1153;1005	ENSP00000318016:D1153N;ENSP00000429676:D1005N	ENSP00000318016:D1153N	D	-	1	0	KIAA0196	126106064	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.616000	0.83018	2.665000	0.90641	0.561000	0.74099	GAT		0.318	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1		NM_014846		10	39	0	0	0	1	0	10	39		
ASAP1	50807	broad.mit.edu	37	8	131073251	131073251	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:131073251C>T	ENST00000518721.1	-	28	2993	c.2766G>A	c.(2764-2766)caG>caA	p.Q922Q	ASAP1_ENST00000357668.1_Silent_p.Q922Q	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	922	Pro-rich.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GTGATGATTTCTGAAAGATTT	0.512																																						uc003yta.1		NaN																	0				ovary(4)	4						c.(2764-2766)CAG>CAA		development and differentiation enhancing factor							104.0	117.0	113.0					8																	131073251		2203	4300	6503	SO:0001819	synonymous_variant	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131073251C>T	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2766G>A	8.37:g.131073251C>T						ASAP1_uc003ysz.1_Silent_p.Q733Q|ASAP1_uc011liw.1_Silent_p.Q915Q	p.Q922Q	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			27	2794	-			922			Pro-rich.		B2RNV3	Silent	SNP	ENST00000518721.1	37	c.2766G>A	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	C	7.667	0.686115	0.14973	.	.	ENSG00000153317	ENST00000524124;ENST00000519483	.	.	.	5.64	4.76	0.60689	.	.	.	.	.	T	0.70360	0.3215	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69698	-0.5075	4	.	.	.	.	14.6324	0.68666	0.1469:0.8531:0.0:0.0	.	.	.	.	K	743;279	.	.	E	-	1	0	ASAP1	131142433	1.000000	0.71417	0.981000	0.43875	0.871000	0.50021	5.603000	0.67619	1.361000	0.45981	0.655000	0.94253	GAA		0.512	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1		NM_018482		42	145	0	0	0	1	0	42	145		
ADCY8	114	broad.mit.edu	37	8	132052131	132052131	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:132052131C>T	ENST00000286355.5	-	1	2541	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	ADCY8_ENST00000377928.3_Missense_Mutation_p.R150Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	150					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.R150Q(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AATGACCCCTCGGTAGCTATA	0.577										HNSCC(32;0.087)																												uc003ytd.3		NaN																	1	Substitution - Missense(1)		endometrium(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(448-450)CGA>CAA		adenylate cyclase 8							35.0	33.0	34.0					8																	132052131		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:132052131C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.449G>A	8.37:g.132052131C>T	ENSP00000286355:p.Arg150Gln	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.R150Q	p.R150Q	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		1	705	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		150			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.449G>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929009	0.73327	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.65549	-0.16;-0.16	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000001	T	0.73651	0.3614	L	0.46157	1.445	0.49483	D	0.999792	D;D	0.69078	0.997;0.997	D;D	0.67725	0.953;0.953	T	0.75505	-0.3294	10	0.62326	D	0.03	.	17.8484	0.88737	0.0:1.0:0.0:0.0	.	150;150	E7EVL1;P40145	.;ADCY8_HUMAN	Q	150	ENSP00000286355:R150Q;ENSP00000367161:R150Q	ENSP00000286355:R150Q	R	-	2	0	ADCY8	132121313	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	4.617000	0.61204	2.474000	0.83562	0.462000	0.41574	CGA		0.577	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1				17	29	0	0	0	1	0	17	29		
TMEM71	137835	broad.mit.edu	37	8	133740098	133740098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:133740098G>A	ENST00000356838.3	-	6	707	c.565C>T	c.(565-567)Cag>Tag	p.Q189*	TMEM71_ENST00000377901.4_Intron|TMEM71_ENST00000523829.1_Nonsense_Mutation_p.Q208*	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	208						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AACTGGGACTGAAGAGACAAG	0.463																																						uc003ytp.2		NaN																	0				ovary(2)	2						c.(619-621)CAG>TAG		transmembrane protein 71 isoform 1							139.0	133.0	135.0					8																	133740098		2203	4300	6503	SO:0001587	stop_gained	137835					integral to membrane		g.chr8:133740098G>A	AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.565C>T	8.37:g.133740098G>A	ENSP00000349296:p.Gln189*					TMEM71_uc003ytm.1_Nonsense_Mutation_p.Q29*|TMEM71_uc003ytn.2_Nonsense_Mutation_p.Q189*|TMEM71_uc003yto.2_Intron	p.Q207*	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		6	848	-	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		208					Q3KRC2|Q8WVZ4|Q96LX9	Nonsense_Mutation	SNP	ENST00000356838.3	37	c.619C>T	CCDS6366.1	.	.	.	.	.	.	.	.	.	.	G	34	5.323356	0.95708	.	.	ENSG00000165071	ENST00000523829;ENST00000356838	.	.	.	6.02	5.15	0.70609	.	0.264744	0.32671	N	0.005788	.	.	.	.	.	.	0.30744	N	0.745805	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-3.2818	11.0317	0.47776	0.0844:0.0:0.9156:0.0	.	.	.	.	X	208;189	.	ENSP00000349296:Q189X	Q	-	1	0	TMEM71	133809280	0.019000	0.18553	0.035000	0.18076	0.039000	0.13416	2.064000	0.41432	1.566000	0.49654	0.655000	0.94253	CAG		0.463	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1		NM_144649		38	112	0	0	0	1	0	38	112		
AGO2	27161	broad.mit.edu	37	8	141568637	141568637	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:141568637C>T	ENST00000220592.5	-	7	937	c.825G>A	c.(823-825)atG>atA	p.M275I	AGO2_ENST00000519980.1_Missense_Mutation_p.M275I	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	275	PAZ. {ECO:0000255|HAMAP-Rule:MF_03031}.				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)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										ACTTCCTCTTCATCTGCCCAC	0.612																																						uc003yvn.2		NaN																	0					0						c.(823-825)ATG>ATA		argonaute 2 isoform 1							144.0	129.0	134.0					8																	141568637		2203	4300	6503	SO:0001583	missense	27161				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity	g.chr8:141568637C>T	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.825G>A	8.37:g.141568637C>T	ENSP00000220592:p.Met275Ile					EIF2C2_uc010men.2_Missense_Mutation_p.M198I|EIF2C2_uc010meo.2_Missense_Mutation_p.M275I	p.M275I	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.158)		7	865	-	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	275			PAZ.		Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	c.825G>A	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155480	0.57259	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.13778	2.56;2.56	4.82	3.91	0.45181	Argonaute/Dicer protein, PAZ (4);	0.074678	0.85682	D	0.000000	T	0.11879	0.0289	L	0.28776	0.89	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.12156	0.007;0.005	T	0.05289	-1.0894	10	0.44086	T	0.13	-6.4662	14.4649	0.67477	0.1483:0.8517:0.0:0.0	.	275;275	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	I	275	ENSP00000220592:M275I;ENSP00000430176:M275I	ENSP00000220592:M275I	M	-	3	0	EIF2C2	141637819	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.704000	0.84595	1.095000	0.41419	0.650000	0.86243	ATG		0.612	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4				30	108	0	0	0	1	0	30	108		
TSNARE1	203062	broad.mit.edu	37	8	143396400	143396400	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:143396400G>C	ENST00000307180.3	-	8	1155	c.1038C>G	c.(1036-1038)ctC>ctG	p.L346L	TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000524325.1_Silent_p.L345L|TSNARE1_ENST00000519651.1_Silent_p.L126L|TSNARE1_ENST00000520166.1_Silent_p.L345L	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	346					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGGCATCTGAGAGCTGGGTTT	0.652																																						uc003ywk.2		NaN																	0					0						c.(1036-1038)CTC>CTG		t-SNARE domain containing 1							126.0	90.0	102.0					8																	143396400		2203	4300	6503	SO:0001819	synonymous_variant	203062				vesicle-mediated transport	integral to membrane		g.chr8:143396400G>C			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.1038C>G	8.37:g.143396400G>C						TSNARE1_uc011lju.1_Silent_p.L345L|TSNARE1_uc003ywj.2_Silent_p.L346L|TSNARE1_uc003ywl.3_Silent_p.L126L	p.L346L	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN			8	1156	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		346					B7ZLB0|Q14D03	Silent	SNP	ENST00000307180.3	37	c.1038C>G	CCDS6384.1																																																																																				0.652	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_145003		21	103	0	0	0	1	0	21	103		
TIGD5	84948	broad.mit.edu	37	8	144681737	144681737	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:144681737C>T	ENST00000504548.2	+	1	1664	c.1664C>T	c.(1663-1665)cCt>cTt	p.P555L	EEF1D_ENST00000423316.2_5'Flank|EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000531621.1_5'Flank|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000532400.1_5'Flank|EEF1D_ENST00000528610.1_5'Flank|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000526838.1_5'Flank|EEF1D_ENST00000524624.1_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|TIGD5_ENST00000321385.3_Missense_Mutation_p.P506L|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000419152.2_5'Flank	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	555						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCCCTGCCCCCTGCAGCGCCT	0.716																																						uc003yyx.1		NaN																	0					0						c.(1516-1518)CCT>CTT		tigger transposable element derived 5							7.0	8.0	8.0					8																	144681737		2131	4203	6334	SO:0001583	missense	84948				regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding	g.chr8:144681737C>T	AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1664C>T	8.37:g.144681737C>T	ENSP00000421489:p.Pro555Leu					EEF1D_uc011lki.1_5'Flank|EEF1D_uc011lkj.1_5'Flank|EEF1D_uc003yyr.2_5'Flank|EEF1D_uc003yyt.2_5'Flank|EEF1D_uc011lkk.1_5'Flank|EEF1D_uc003yys.2_5'Flank|EEF1D_uc003yyv.2_5'Flank|EEF1D_uc003yyu.2_5'Flank|EEF1D_uc011lkl.1_5'Flank	p.P506L	NM_032862	NP_116251	Q53EQ6	TIGD5_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	1517	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		555					E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Missense_Mutation	SNP	ENST00000504548.2	37	c.1517C>T	CCDS6406.2	.	.	.	.	.	.	.	.	.	.	C	3.374	-0.127811	0.06753	.	.	ENSG00000179886	ENST00000504548;ENST00000321385	T;T	0.28666	1.6;1.6	4.55	1.53	0.23141	.	0.195372	0.22932	U	0.053898	T	0.11537	0.0281	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16748	-1.0392	10	0.29301	T	0.29	.	1.6224	0.02716	0.1494:0.3657:0.292:0.193	.	506	Q53EQ6	TIGD5_HUMAN	L	555;506	ENSP00000421489:P555L;ENSP00000315906:P506L	ENSP00000315906:P506L	P	+	2	0	TIGD5	144752880	0.000000	0.05858	0.034000	0.17996	0.098000	0.18820	-0.115000	0.10741	0.005000	0.14708	-0.355000	0.07637	CCT		0.716	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1		NM_032862		3	11	0	0	0	1	0	3	11		
PLEC	5339	broad.mit.edu	37	8	145003979	145003979	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:145003979C>G	ENST00000322810.4	-	23	3338	c.3169G>C	c.(3169-3171)Gag>Cag	p.E1057Q	PLEC_ENST00000436759.2_Missense_Mutation_p.E947Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E920Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E888Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E920Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E943Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E898Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E924Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E906Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1057	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTGCTCCTCTGGCTTCAGG	0.706																																						uc003zaf.1		NaN																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(3169-3171)GAG>CAG		plectin isoform 1							11.0	14.0	13.0					8																	145003979		2078	4133	6211	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:145003979C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.3169G>C	8.37:g.145003979C>G	ENSP00000323856:p.Glu1057Gln					PLEC_uc003zab.1_Missense_Mutation_p.E920Q|PLEC_uc003zac.1_Missense_Mutation_p.E924Q|PLEC_uc003zad.2_Missense_Mutation_p.E920Q|PLEC_uc003zae.1_Missense_Mutation_p.E888Q|PLEC_uc003zag.1_Missense_Mutation_p.E898Q|PLEC_uc003zah.2_Missense_Mutation_p.E906Q|PLEC_uc003zaj.2_Missense_Mutation_p.E947Q	p.E1057Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN			23	3339	-			1057			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.3169G>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	8.756	0.922355	0.17982	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.78595	-1.15;-1.15;-1.19;-1.18;-1.17;-1.15;-1.15;-1.15;-1.15	4.79	4.79	0.61399	.	0.000000	0.64402	U	0.000016	T	0.77598	0.4154	L	0.52573	1.65	0.46678	D	0.999155	P;P;P;P;P;P;P;P	0.51537	0.946;0.946;0.946;0.911;0.946;0.946;0.946;0.946	P;P;P;B;P;P;P;P	0.46253	0.509;0.509;0.509;0.311;0.509;0.509;0.509;0.509	T	0.80551	-0.1332	10	0.54805	T	0.06	.	17.4376	0.87557	0.0:1.0:0.0:0.0	.	947;906;898;1057;888;920;924;920	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	920;924;920;888;1057;898;906;947;943	ENSP00000344848:E920Q;ENSP00000350277:E924Q;ENSP00000346602:E920Q;ENSP00000381756:E888Q;ENSP00000323856:E1057Q;ENSP00000347044:E898Q;ENSP00000348702:E906Q;ENSP00000388180:E947Q;ENSP00000434583:E943Q	ENSP00000323856:E1057Q	E	-	1	0	PLEC	145075967	1.000000	0.71417	0.922000	0.36590	0.088000	0.18126	5.833000	0.69349	2.198000	0.70561	0.551000	0.68910	GAG		0.706	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		NM_000445		9	23	0	0	0	1	0	9	23		
PLEC	5339	broad.mit.edu	37	8	145004382	145004382	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:145004382C>A	ENST00000322810.4	-	21	3122	c.2953G>T	c.(2953-2955)Gag>Tag	p.E985*	PLEC_ENST00000436759.2_Nonsense_Mutation_p.E875*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.E848*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.E816*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.E848*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.E871*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.E826*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.E852*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.E834*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	985	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACGGCGGCCTCGCTGCCGGAG	0.716																																						uc003zaf.1		NaN																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(2953-2955)GAG>TAG		plectin isoform 1							9.0	12.0	11.0					8																	145004382		2108	4196	6304	SO:0001587	stop_gained	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:145004382C>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.2953G>T	8.37:g.145004382C>A	ENSP00000323856:p.Glu985*					PLEC_uc003zab.1_Nonsense_Mutation_p.E848*|PLEC_uc003zac.1_Nonsense_Mutation_p.E852*|PLEC_uc003zad.2_Nonsense_Mutation_p.E848*|PLEC_uc003zae.1_Nonsense_Mutation_p.E816*|PLEC_uc003zag.1_Nonsense_Mutation_p.E826*|PLEC_uc003zah.2_Nonsense_Mutation_p.E834*|PLEC_uc003zaj.2_Nonsense_Mutation_p.E875*	p.E985*	NM_201380	NP_958782	Q15149	PLEC_HUMAN			21	3123	-			985			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	ENST00000322810.4	37	c.2953G>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	39	7.864064	0.98531	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	4.99	4.12	0.48240	.	0.000000	0.64402	U	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.7638	0.57380	0.0:0.9192:0.0:0.0808	.	.	.	.	X	848;852;848;816;985;826;834;875;871	.	ENSP00000323856:E985X	E	-	1	0	PLEC	145076370	0.966000	0.33281	0.473000	0.27253	0.082000	0.17680	2.284000	0.43478	1.097000	0.41459	0.453000	0.30009	GAG		0.716	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		NM_000445		5	13	1	0	0.184627	1	0.184846	5	13		
GRINA	2907	broad.mit.edu	37	8	145066917	145066917	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:145066917G>A	ENST00000313269.5	+	7	1302	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	GRINA_ENST00000395068.4_Missense_Mutation_p.E342K	NM_000837.1	NP_000828.1	Q7Z429	LFG1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	342						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGAGCCCAGAAGAGTATGT	0.562																																						uc003zan.1		NaN																	0				central_nervous_system(1)	1						c.(1024-1026)GAA>AAA		glutamate receptor, ionotropic, N-methyl							169.0	108.0	129.0					8																	145066917		2203	4299	6502	SO:0001583	missense	2907					integral to membrane		g.chr8:145066917G>A	NM_001009184	CCDS34961.1	8q24.3	2010-03-18	2008-04-01						4589	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 3"""	138251		NMDARA1		1719427, 8406459	Standard	XM_005250899		Approved	HNRGW, TMBIM3, LFG1	uc003zao.1	Q7Z429		ENST00000313269.5:c.1024G>A	8.37:g.145066917G>A	ENSP00000314380:p.Glu342Lys					GRINA_uc003zao.1_Missense_Mutation_p.E342K|GRINA_uc003zap.1_Missense_Mutation_p.E342K	p.E342K	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		7	1190	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		342					B3KXM7|O43836|Q8IVW7	Missense_Mutation	SNP	ENST00000313269.5	37	c.1024G>A	CCDS34961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.99|14.99	2.700756|2.700756	0.48307|0.48307	.|.	.|.	ENSG00000178719|ENSG00000178719	ENST00000313269;ENST00000395068;ENST00000537637|ENST00000533044;ENST00000527194	T;T|.	0.44083|.	0.93;0.93|.	4.61|4.61	4.61|4.61	0.57282|0.57282	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79986|0.79986	0.4541|0.4541	M|M	0.90425|0.90425	3.115|3.115	0.58432|0.58432	D|D	0.99999|0.99999	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.83724|0.83724	0.0194|0.0194	10|5	0.87932|.	D|.	0|.	-30.1173|-30.1173	12.8572|12.8572	0.57892|0.57892	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	342|.	Q7Z429|.	GRINA_HUMAN|.	K|K	342;342;323|164;154	ENSP00000314380:E342K;ENSP00000378507:E342K|.	ENSP00000314380:E342K|.	E|R	+|+	1|2	0|0	GRINA|GRINA	145138905|145138905	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.942000|0.942000	0.58702|0.58702	8.892000|8.892000	0.92491|0.92491	2.389000|2.389000	0.81357|0.81357	0.485000|0.485000	0.47835|0.47835	GAA|AGA		0.562	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384048.1		NM_001009184		11	45	0	0	0	1	0	11	45		
MFSD3	113655	broad.mit.edu	37	8	145736434	145736434	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:145736434C>T	ENST00000301327.4	+	5	1386	c.1126C>T	c.(1126-1128)Ctg>Ttg	p.L376L	CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'Flank	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	376	Leu-rich.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCTGGGCACTCTGGCCGGAGG	0.647																																						uc003zdi.1		NaN																	0				central_nervous_system(2)	2						c.(1126-1128)CTG>TTG		major facilitator superfamily domain containing							98.0	98.0	98.0					8																	145736434		2202	4300	6502	SO:0001819	synonymous_variant	113655				transmembrane transport	integral to membrane		g.chr8:145736434C>T		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177	ENST00000301327.4:c.1126C>T	8.37:g.145736434C>T							p.L376L	NM_138431	NP_612440	Q96ES6	MFSD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		5	1291	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		376			Leu-rich.|Helical; (Potential).			Silent	SNP	ENST00000301327.4	37	c.1126C>T	CCDS6431.1																																																																																				0.647	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2		NM_138431		47	151	0	0	0	1	0	47	151		
DMRT3	58524	broad.mit.edu	37	9	990886	990886	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:990886C>T	ENST00000190165.2	+	2	1338	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	434					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GGAAGACCCTCGGATTTCCAT	0.542																																						uc003zgw.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1300-1302)CGG>TGG		doublesex and mab-3 related transcription factor							85.0	78.0	80.0					9																	990886		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990886C>T	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1300C>T	9.37:g.990886C>T	ENSP00000190165:p.Arg434Trp						p.R434W	NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	1338	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	434					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.1300C>T	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999147	0.54147	.	.	ENSG00000064218	ENST00000190165	T	0.32272	1.46	5.22	3.33	0.38152	.	0.068522	0.64402	D	0.000020	T	0.42223	0.1193	L	0.32530	0.975	0.48395	D	0.99964	D	0.89917	1.0	D	0.69654	0.965	T	0.29671	-1.0004	10	0.72032	D	0.01	-38.8542	13.3619	0.60661	0.591:0.4089:0.0:0.0	.	434	Q9NQL9	DMRT3_HUMAN	W	434	ENSP00000190165:R434W	ENSP00000190165:R434W	R	+	1	2	DMRT3	980886	0.154000	0.22792	0.128000	0.21923	0.925000	0.55904	0.660000	0.25009	0.548000	0.28955	0.655000	0.94253	CGG		0.542	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1		NM_021240		27	100	0	0	0	1	0	27	100		
SMARCA2	6595	broad.mit.edu	37	9	2056767	2056767	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:2056767G>C	ENST00000382203.1	+	7	1478	c.1269G>C	c.(1267-1269)ctG>ctC	p.L423L	SMARCA2_ENST00000382194.1_Silent_p.L423L|SMARCA2_ENST00000349721.2_Silent_p.L423L|SMARCA2_ENST00000357248.2_Silent_p.L423L			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	423					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)			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)		GCCAGACTCTGAGAGAAGCTC	0.572																																						uc003zhc.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1267-1269)CTG>CTC		SWI/SNF-related matrix-associated							75.0	72.0	73.0					9																	2056767		2203	4300	6503	SO:0001819	synonymous_variant	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.chr9:2056767G>C	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.1269G>C	9.37:g.2056767G>C						SMARCA2_uc003zhd.2_Silent_p.L423L|SMARCA2_uc010mha.2_Silent_p.L414L	p.L423L	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	7	1368	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	423					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.1269G>C	CCDS34977.1																																																																																				0.572	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1		NM_003070		15	29	0	0	0	1	0	15	29		
KIAA0020	9933	broad.mit.edu	37	9	2837350	2837350	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:2837350C>T	ENST00000397885.2	-	3	340	c.134G>A	c.(133-135)gGa>gAa	p.G45E		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	45						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		GACTTTAGGTCCACCTTCTTT	0.373																																						uc003zhp.1		NaN																	0				ovary(1)	1						c.(133-135)GGA>GAA		KIAA0020 protein							162.0	143.0	149.0					9																	2837350		1820	4080	5900	SO:0001583	missense	9933					endoplasmic reticulum|nucleolus	RNA binding	g.chr9:2837350C>T	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.134G>A	9.37:g.2837350C>T	ENSP00000380982:p.Gly45Glu					KIAA0020_uc010mhc.1_Missense_Mutation_p.G44E|KIAA0020_uc003zhq.1_Missense_Mutation_p.G45E	p.G45E	NM_014878	NP_055693	Q15397	K0020_HUMAN		GBM - Glioblastoma multiforme(50;0.0319)	3	230	-			45					A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	37	c.134G>A	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	C	5.626	0.300126	0.10622	.	.	ENSG00000080608	ENST00000397885	T	0.11712	2.75	4.56	3.66	0.41972	.	0.389744	0.28549	N	0.014959	T	0.05502	0.0145	N	0.24115	0.695	0.28116	N	0.930803	B	0.02656	0.0	B	0.04013	0.001	T	0.39231	-0.9624	10	0.07030	T	0.85	-31.4626	5.7811	0.18308	0.0:0.7261:0.0:0.2739	.	45	Q15397	K0020_HUMAN	E	45	ENSP00000380982:G45E	ENSP00000380982:G45E	G	-	2	0	KIAA0020	2827350	0.042000	0.20092	0.898000	0.35279	0.620000	0.37586	0.979000	0.29500	1.268000	0.44264	0.655000	0.94253	GGA		0.373	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3		NM_014878		17	79	0	0	0	1	0	17	79		
JAK2	3717	broad.mit.edu	37	9	5022040	5022040	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:5022040C>G	ENST00000381652.3	+	3	547	c.53C>G	c.(52-54)tCt>tGt	p.S18C	JAK2_ENST00000539801.1_Missense_Mutation_p.S18C	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	18	Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TCCACCTCTTCTATATATCAG	0.393		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													uc010mhm.2		1		Dom	yes		9	9p24	3717	T|Mis|O	Janus kinase 2			L	ETV6|PCM1|BCR		ALL|AML|MPD| CML	PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	0				haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641						c.(52-54)TCT>TGT		Janus kinase 2							101.0	92.0	95.0					9																	5022040		2203	4300	6503	SO:0001583	missense	3717	Polycythemia_Vera_Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5022040C>G		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.53C>G	9.37:g.5022040C>G	ENSP00000371067:p.Ser18Cys					JAK2_uc003ziw.2_Missense_Mutation_p.S18C	p.S18C	NM_004972	NP_004963	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	2	166	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	18			Interaction with cytokine/interferon/growth hormone receptors (By similarity).		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	c.53C>G	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.525966	0.27299	.	.	ENSG00000096968	ENST00000539801;ENST00000381652	T;T	0.79940	-1.32;-1.32	5.57	5.57	0.84162	.	0.280376	0.35013	N	0.003503	T	0.69540	0.3122	N	0.08118	0	0.80722	D	1	B	0.22480	0.07	B	0.27170	0.077	T	0.67538	-0.5645	10	0.72032	D	0.01	-7.9415	19.1474	0.93473	0.0:1.0:0.0:0.0	.	18	O60674	JAK2_HUMAN	C	18	ENSP00000440387:S18C;ENSP00000371067:S18C	ENSP00000371067:S18C	S	+	2	0	JAK2	5012040	0.992000	0.36948	0.048000	0.18961	0.183000	0.23260	5.907000	0.69908	2.621000	0.88768	0.460000	0.39030	TCT		0.393	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1				24	77	0	0	0	1	0	24	77		
RIC1	57589	broad.mit.edu	37	9	5765728	5765728	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:5765728G>A	ENST00000414202.2	+	21	3258	c.3067G>A	c.(3067-3069)Gaa>Aaa	p.E1023K	KIAA1432_ENST00000449720.2_Missense_Mutation_p.E907K|KIAA1432_ENST00000251879.6_Missense_Mutation_p.E1023K|KIAA1432_ENST00000381532.2_Missense_Mutation_p.E944K|KIAA1432_ENST00000418622.3_Missense_Mutation_p.E944K	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CCAGTCAGCTGAAAATGTTCC	0.398																																						uc003zji.2		NaN																	0					0						c.(2830-2832)GAA>AAA		connexin 43-interacting protein 150 isoform a							119.0	126.0	124.0					9																	5765728		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5765728G>A																												ENST00000414202.2:c.3067G>A	9.37:g.5765728G>A	ENSP00000416696:p.Glu1023Lys					KIAA1432_uc003zjh.2_Missense_Mutation_p.E944K|KIAA1432_uc003zjl.3_Missense_Mutation_p.E907K|KIAA1432_uc003zjj.1_Missense_Mutation_p.E486K|ERMP1_uc011lme.1_RNA	p.E944K	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	20	2923	+		Acute lymphoblastic leukemia(23;0.154)	1023						Missense_Mutation	SNP	ENST00000414202.2	37	c.2830G>A	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554835	0.45487	.	.	ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	.	.	.	6.04	6.04	0.98038	.	0.181870	0.64402	D	0.000019	T	0.58637	0.2136	L	0.54323	1.7	0.80722	D	1	B;B;B;B	0.22211	0.0;0.058;0.004;0.066	B;B;B;B	0.21708	0.001;0.033;0.004;0.036	T	0.56559	-0.7959	9	0.07644	T	0.81	-7.7682	20.5948	0.99439	0.0:0.0:1.0:0.0	.	907;944;1023;1023	B7ZM67;B2RN24;Q4ADV7;G5E932	.;.;RIC1_HUMAN;.	K	1023;1023;944;944;907	.	ENSP00000251879:E1023K	E	+	1	0	KIAA1432	5755728	1.000000	0.71417	0.999000	0.59377	0.668000	0.39293	9.476000	0.97823	2.873000	0.98535	0.563000	0.77884	GAA		0.398	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3				10	126	0	0	0	1	0	10	126		
PTPRD	5789	broad.mit.edu	37	9	8484270	8484270	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:8484270G>A	ENST00000381196.4	-	27	3805	c.3262C>T	c.(3262-3264)Cgt>Tgt	p.R1088C	PTPRD_ENST00000397617.3_Missense_Mutation_p.R667C|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1088C|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1088C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R674C|PTPRD_ENST00000471274.1_5'Flank|PTPRD_ENST00000537002.1_Missense_Mutation_p.R674C|PTPRD_ENST00000397606.3_Missense_Mutation_p.R667C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1075C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1066C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R677C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R677C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1088	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTGTTTCCACGATTTGTCAGC	0.478										TSP Lung(15;0.13)																												uc003zkk.2		NaN																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(3262-3264)CGT>TGT		protein tyrosine phosphatase, receptor type, D							126.0	108.0	114.0					9																	8484270		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8484270G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3262C>T	9.37:g.8484270G>A	ENSP00000370593:p.Arg1088Cys	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.R677C|PTPRD_uc003zkq.2_Missense_Mutation_p.R677C|PTPRD_uc003zkr.2_Missense_Mutation_p.R672C|PTPRD_uc003zks.2_Missense_Mutation_p.R667C|PTPRD_uc003zkl.2_Missense_Mutation_p.R1079C|PTPRD_uc003zkm.2_Missense_Mutation_p.R1075C|PTPRD_uc003zkn.2_Missense_Mutation_p.R677C|PTPRD_uc003zko.2_Missense_Mutation_p.R674C	p.R1088C	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	29	3973	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1088			Fibronectin type-III 8.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3262C>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554370	0.86231	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	6.06	6.06	0.98353	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.053923	0.85682	D	0.000000	T	0.64438	0.2598	M	0.64404	1.975	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.997;0.994;0.993;0.987;0.995;0.994;1.0;0.996;0.999	P;P;P;B;D;P;D;P;P	0.66847	0.676;0.489;0.619;0.431;0.947;0.784;0.944;0.776;0.841	T	0.61456	-0.7059	9	.	.	.	.	14.9629	0.71169	0.0:0.0:0.822:0.178	.	667;672;677;677;674;674;1075;1088;1088	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	C	1088;1088;1075;1066;677;667;674;674;1088;677;667	ENSP00000370593:R1088C;ENSP00000348812:R1088C;ENSP00000353187:R1075C;ENSP00000351293:R1066C;ENSP00000347373:R677C;ENSP00000380741:R667C;ENSP00000380735:R674C;ENSP00000440515:R674C;ENSP00000438164:R1088C;ENSP00000417093:R677C;ENSP00000380731:R667C	.	R	-	1	0	PTPRD	8474270	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	6.413000	0.73308	2.882000	0.98803	0.655000	0.94253	CGT		0.478	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3				20	65	0	0	0	1	0	20	65		
BNC2	54796	broad.mit.edu	37	9	16436824	16436824	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:16436824G>C	ENST00000380672.4	-	6	1425	c.1368C>G	c.(1366-1368)ctC>ctG	p.L456L	BNC2_ENST00000545497.1_Silent_p.L361L|BNC2_ENST00000380667.2_Silent_p.L389L|BNC2_ENST00000380666.2_Silent_p.L456L	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AATGAATTTTGAGAGTACCTT	0.448																																						uc003zml.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1366-1368)CTC>CTG		basonuclin 2							117.0	110.0	112.0					9																	16436824		2203	4300	6503	SO:0001819	synonymous_variant	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436824G>C	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1368C>G	9.37:g.16436824G>C						BNC2_uc011lmw.1_Silent_p.L361L|BNC2_uc003zmm.2_Silent_p.L414L|BNC2_uc003zmq.1_Silent_p.L470L|BNC2_uc003zmr.1_Silent_p.L493L|BNC2_uc003zmp.1_Silent_p.L484L|BNC2_uc010mij.1_Silent_p.L378L|BNC2_uc011lmv.1_Silent_p.L282L|BNC2_uc003zmo.1_Silent_p.L378L|BNC2_uc003zmj.2_Silent_p.L221L|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Silent_p.L221L|BNC2_uc003zmn.1_Silent_p.L221L	p.L456L	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	1508	-			456			C2H2-type 1.			Silent	SNP	ENST00000380672.4	37	c.1368C>G	CCDS6482.2																																																																																				0.448	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5		NM_017637		26	68	0	0	0	1	0	26	68		
CNTLN	54875	broad.mit.edu	37	9	17464510	17464510	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:17464510G>A	ENST00000380647.3	+	21	3504	c.3420G>A	c.(3418-3420)gaG>gaA	p.E1140E	CNTLN_ENST00000262360.5_Silent_p.E1140E|CNTLN_ENST00000425824.1_Silent_p.E1140E			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1140					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CTCGAATGGAGAGGGATATAA	0.303																																						uc003zmz.2		NaN																	0				pancreas(1)	1						c.(3415-3417)GAG>GAA		centlein isoform 1							88.0	90.0	90.0					9																	17464510		1806	4039	5845	SO:0001819	synonymous_variant	54875					centriole|membrane	two-component sensor activity	g.chr9:17464510G>A	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.3420G>A	9.37:g.17464510G>A						CNTLN_uc003zmy.2_Silent_p.E1140E|CNTLN_uc010mio.2_Silent_p.E819E	p.E1139E	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	21	3443	+			1140			Potential.		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Silent	SNP	ENST00000380647.3	37	c.3417G>A	CCDS43789.1																																																																																				0.303	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3		NM_017738		16	34	0	0	0	1	0	16	34		
DENND4C	55667	broad.mit.edu	37	9	19345995	19345995	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:19345995G>C	ENST00000380432.2	+	18	2406	c.2373G>C	c.(2371-2373)aaG>aaC	p.K791N	DENND4C_ENST00000602925.1_Missense_Mutation_p.K1027N|DENND4C_ENST00000434457.2_Missense_Mutation_p.K1076N			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	791					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CTAATCTCAAGAAGAATGGTG	0.358																																						uc003znq.2		NaN																	0				ovary(1)|skin(1)	2						c.(2371-2373)AAG>AAC		DENN/MADD domain containing 4C							101.0	104.0	103.0					9																	19345995		2203	4300	6503	SO:0001583	missense	55667					integral to membrane		g.chr9:19345995G>C	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.2373G>C	9.37:g.19345995G>C	ENSP00000369797:p.Lys791Asn					DENND4C_uc011lnc.1_Missense_Mutation_p.K121N|DENND4C_uc011lnd.1_Missense_Mutation_p.K79N|DENND4C_uc003znr.2_Missense_Mutation_p.K79N|DENND4C_uc003zns.2_5'UTR|DENND4C_uc003znt.2_5'UTR	p.K791N	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN			18	2406	+			791					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.2373G>C		.	.	.	.	.	.	.	.	.	.	G	18.25	3.582072	0.65992	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000540671;ENST00000380432	T;T;T	0.26223	1.76;1.75;3.49	5.04	5.04	0.67666	.	0.473208	0.22373	N	0.060907	T	0.30665	0.0772	L	0.43152	1.355	0.45822	D	0.998696	P;P	0.49253	0.921;0.651	P;B	0.46049	0.502;0.163	T	0.02121	-1.1210	10	0.39692	T	0.17	-15.9343	18.5854	0.91187	0.0:0.0:1.0:0.0	.	121;791	B7Z660;Q5VZ89	.;DEN4C_HUMAN	N	791;264;121;264	ENSP00000305795:K264N;ENSP00000443804:K121N;ENSP00000369797:K264N	ENSP00000305795:K264N	K	+	3	2	DENND4C	19335995	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.353000	0.66034	2.597000	0.87782	0.655000	0.94253	AAG		0.358	DENND4C-201	KNOWN	basic	protein_coding	protein_coding			NM_017925		19	65	0	0	0	1	0	19	65		
DENND4C	55667	broad.mit.edu	37	9	19346457	19346457	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:19346457G>C	ENST00000380432.2	+	18	2868	c.2835G>C	c.(2833-2835)aaG>aaC	p.K945N	DENND4C_ENST00000602925.1_Missense_Mutation_p.K1181N|DENND4C_ENST00000434457.2_Missense_Mutation_p.K1230N			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	945					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGAGGAATAAGAGAAGTAGTT	0.378																																						uc003znq.2		NaN																	0				ovary(1)|skin(1)	2						c.(2833-2835)AAG>AAC		DENN/MADD domain containing 4C							80.0	80.0	80.0					9																	19346457		2203	4300	6503	SO:0001583	missense	55667					integral to membrane		g.chr9:19346457G>C	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.2835G>C	9.37:g.19346457G>C	ENSP00000369797:p.Lys945Asn					DENND4C_uc011lnc.1_Missense_Mutation_p.K275N|DENND4C_uc011lnd.1_Missense_Mutation_p.K233N|DENND4C_uc003znr.2_Missense_Mutation_p.K233N|DENND4C_uc003zns.2_Missense_Mutation_p.K127N|DENND4C_uc003znt.2_Missense_Mutation_p.K127N	p.K945N	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN			18	2868	+			945					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.2835G>C		.	.	.	.	.	.	.	.	.	.	G	14.34	2.505946	0.44558	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427	T;T	0.26810	1.72;1.71	5.81	1.39	0.22231	.	9.977710	0.00166	N	0.000000	T	0.44746	0.1308	L	0.55481	1.735	0.33317	D	0.5668	P;B;D;D	0.71674	0.611;0.208;0.998;0.958	B;B;D;P	0.66351	0.221;0.077;0.943;0.534	T	0.18555	-1.0333	10	0.51188	T	0.08	-10.4324	6.4713	0.22009	0.3382:0.1331:0.5287:0.0	.	275;945;127;945	B7Z660;Q5VZ89-5;Q5VZ89-3;Q5VZ89	.;.;.;DEN4C_HUMAN	N	945;418;127;275;418;127	ENSP00000305795:K418N;ENSP00000443804:K275N	ENSP00000305795:K418N	K	+	3	2	DENND4C	19336457	1.000000	0.71417	0.995000	0.50966	0.722000	0.41435	0.888000	0.28268	0.373000	0.24621	-0.145000	0.13849	AAG		0.378	DENND4C-201	KNOWN	basic	protein_coding	protein_coding			NM_017925		12	70	0	0	0	1	0	12	70		
RPS6	6194	broad.mit.edu	37	9	19376564	19376564	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:19376564C>G	ENST00000380394.4	-	5	640	c.582G>C	c.(580-582)ctG>ctC	p.L194L	RPS6_ENST00000498815.1_5'UTR|RP11-513M16.8_ENST00000609982.1_RNA|RPS6_ENST00000380384.1_Silent_p.L163L|RPS6_ENST00000315377.4_Silent_p.L163L	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	194					activation-induced cell death of T cells (GO:0006924)|cellular protein metabolic process (GO:0044267)|erythrocyte development (GO:0048821)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|oogenesis stage (GO:0022605)|placenta development (GO:0001890)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell differentiation in thymus (GO:0033077)|T cell proliferation involved in immune response (GO:0002309)|TOR signaling (GO:0031929)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|dendrite (GO:0030425)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		GCTGCTTCTTCAGAGCAATAC	0.448																																						uc003znv.1		NaN																	0				ovary(1)	1						c.(580-582)CTG>CTC		ribosomal protein S6							94.0	96.0	95.0					9																	19376564		2203	4300	6503	SO:0001819	synonymous_variant	6194				endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding	g.chr9:19376564C>G		CCDS6492.1	9p21	2011-04-05			ENSG00000137154	ENSG00000137154		"""S ribosomal proteins"""	10429	protein-coding gene	gene with protein product	"""40S ribosomal protein S6"", ""phosphoprotein NP33"""	180460				1577483	Standard	NM_001010		Approved	S6	uc003znv.1	P62753	OTTHUMG00000019642	ENST00000380394.4:c.582G>C	9.37:g.19376564C>G						RPS6_uc003znu.1_Silent_p.L163L	p.L194L	NM_001010	NP_001001	P62753	RS6_HUMAN		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)	5	624	-		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)	194					P08227|P10660|Q4VBY7|Q8N6Z7	Silent	SNP	ENST00000380394.4	37	c.582G>C	CCDS6492.1																																																																																				0.448	RPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051858.1		NM_001010		26	105	0	0	0	1	0	26	105		
SLC24A2	25769	broad.mit.edu	37	9	19786586	19786586	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:19786586C>G	ENST00000341998.2	-	1	340	c.279G>C	c.(277-279)aaG>aaC	p.K93N	SLC24A2_ENST00000286344.3_Missense_Mutation_p.K93N	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	93					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		AATCCAGAATCTTGTCATTTA	0.473																																						uc003zoa.1		NaN																	0				ovary(3)	3						c.(277-279)AAG>AAC		solute carrier family 24							97.0	103.0	101.0					9																	19786586		2203	4300	6503	SO:0001583	missense	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19786586C>G	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.279G>C	9.37:g.19786586C>G	ENSP00000344801:p.Lys93Asn					SLC24A2_uc003zob.1_Missense_Mutation_p.K93N	p.K93N	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	1	341	-			93			Extracellular (Potential).		B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	c.279G>C	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.603394	0.28534	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.75589	-0.95;-0.94	5.76	4.86	0.63082	.	0.561170	0.19853	N	0.104593	T	0.57359	0.2048	N	0.16903	0.455	0.29242	N	0.87253	B;B	0.16166	0.016;0.001	B;B	0.24394	0.053;0.002	T	0.50320	-0.8842	9	.	.	.	.	9.6076	0.39643	0.1428:0.787:0.0:0.0702	.	93;93	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	N	93	ENSP00000344801:K93N;ENSP00000286344:K93N	.	K	-	3	2	SLC24A2	19776586	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	1.963000	0.40452	1.419000	0.47118	0.655000	0.94253	AAG		0.473	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2		NM_020344		18	86	0	0	0	1	0	18	86		
TMEM215	401498	broad.mit.edu	37	9	32784684	32784684	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:32784684C>T	ENST00000342743.5	+	2	868	c.503C>T	c.(502-504)tCg>tTg	p.S168L		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	168						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						TACTGCCCCTCGGGCAGTTCC	0.587																																						uc003zri.3		NaN																	0					0						c.(502-504)TCG>TTG		transmembrane protein 215							52.0	48.0	49.0					9																	32784684		2203	4300	6503	SO:0001583	missense	401498					integral to membrane		g.chr9:32784684C>T		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.503C>T	9.37:g.32784684C>T	ENSP00000345468:p.Ser168Leu						p.S168L	NM_212558	NP_997723	Q68D42	TM215_HUMAN			2	868	+			168					Q6ZUU2	Missense_Mutation	SNP	ENST00000342743.5	37	c.503C>T	CCDS6530.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920509	0.33908	.	.	ENSG00000188133	ENST00000342743	.	.	.	5.82	5.82	0.92795	.	0.214550	0.32015	N	0.006705	T	0.65481	0.2695	N	0.24115	0.695	0.42046	D	0.991099	D	0.89917	1.0	D	0.81914	0.995	T	0.68006	-0.5523	9	0.59425	D	0.04	-6.4636	17.5939	0.88005	0.0:1.0:0.0:0.0	.	168	Q68D42	TM215_HUMAN	L	168	.	ENSP00000345468:S168L	S	+	2	0	TMEM215	32774684	0.904000	0.30761	0.598000	0.28837	0.284000	0.27059	2.821000	0.48065	2.760000	0.94817	0.655000	0.94253	TCG		0.587	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1		NM_212558		22	44	0	0	0	1	0	22	44		
DNAI1	27019	broad.mit.edu	37	9	34489432	34489432	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:34489432G>C	ENST00000242317.4	+	5	544	c.373G>C	c.(373-375)Gat>Cat	p.D125H	DNAI1_ENST00000488369.1_3'UTR	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	125					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GCATTACCGCGATGAATTAGT	0.527									Kartagener syndrome																													uc003zum.2		NaN																	0					0						c.(373-375)GAT>CAT		dynein, axonemal, intermediate chain 1							129.0	111.0	117.0					9																	34489432		2203	4300	6503	SO:0001583	missense	27019	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34489432G>C	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.373G>C	9.37:g.34489432G>C	ENSP00000242317:p.Asp125His						p.D125H	NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	5	566	+	all_epithelial(49;0.244)		125					B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	c.373G>C	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	G	9.512	1.106098	0.20632	.	.	ENSG00000122735	ENST00000396929;ENST00000242317;ENST00000437363	T;T	0.32988	1.43;1.43	6.08	1.23	0.21249	.	1.000970	0.08059	N	0.997953	T	0.25827	0.0629	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.27938	-1.0059	10	0.41790	T	0.15	.	7.7123	0.28684	0.4076:0.0:0.5924:0.0	.	125	Q9UI46	DNAI1_HUMAN	H	114;125;114	ENSP00000242317:D125H;ENSP00000395396:D114H	ENSP00000242317:D125H	D	+	1	0	DNAI1	34479432	0.000000	0.05858	0.008000	0.14137	0.020000	0.10135	0.802000	0.27069	0.173000	0.19788	-0.126000	0.14955	GAT		0.527	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1				19	83	0	0	0	1	0	19	83		
POLR1E	64425	broad.mit.edu	37	9	37498107	37498107	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:37498107G>A	ENST00000377798.4	+	9	885	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	POLR1E_ENST00000377792.3_Missense_Mutation_p.E320K|POLR1E_ENST00000442009.2_Missense_Mutation_p.E188K	NM_022490.1	NP_071935.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	311					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CTTTGTCATAGAAGCGTTGAA	0.483																																					Ovarian(116;843 1620 18506 32459 34463)	uc003zzz.1		NaN																	0					0						c.(958-960)GAA>AAA		RNA polymerase I associated factor 53							120.0	111.0	115.0					9																	37498107		2203	4300	6503	SO:0001583	missense	64425				rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr9:37498107G>A	AK091294	CCDS6611.1	9p13.1	2013-01-21	2006-03-09	2006-03-09	ENSG00000137054	ENSG00000137054		"""RNA polymerase subunits"""	17631	protein-coding gene	gene with protein product	"""RNA polymerase I associated factor 53"""		"""polymerase (RNA) I associated factor 1"""	PRAF1		8641287	Standard	XM_005251547		Approved	FLJ13390, PAF53, FLJ13970	uc003zzy.1	Q9GZS1	OTTHUMG00000019920	ENST00000377798.4:c.772G>A	9.37:g.37498107G>A	ENSP00000367029:p.Glu258Lys					POLR1E_uc003zzy.1_Missense_Mutation_p.E258K|POLR1E_uc011lqk.1_Missense_Mutation_p.E187K	p.E320K	NM_022490	NP_071935	Q9GZS1	RPA49_HUMAN		GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)	8	1246	+			320					O75395|Q5JTE3	Missense_Mutation	SNP	ENST00000377798.4	37	c.958G>A	CCDS6611.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.385067	0.42308	.	.	ENSG00000137054	ENST00000377798;ENST00000442009;ENST00000377792	T;T;T	0.19532	2.14;2.14;2.14	6.17	6.17	0.99709	.	0.292038	0.42821	D	0.000642	T	0.21468	0.0517	L	0.50333	1.59	0.38297	D	0.942879	B;B;B	0.18968	0.032;0.024;0.002	B;B;B	0.23574	0.047;0.047;0.007	T	0.08932	-1.0698	10	0.09084	T	0.74	-19.5262	16.3795	0.83443	0.0:0.0:1.0:0.0	.	188;320;258	E7EX70;Q9GZS1;Q9GZS1-2	.;RPA49_HUMAN;.	K	258;188;320	ENSP00000367029:E258K;ENSP00000399887:E188K;ENSP00000367023:E320K	ENSP00000367023:E320K	E	+	1	0	POLR1E	37488107	1.000000	0.71417	1.000000	0.80357	0.043000	0.13939	3.329000	0.52060	2.941000	0.99782	0.655000	0.94253	GAA		0.483	POLR1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052464.1		NM_022490		27	54	0	0	0	1	0	27	54		
TMEM252	169693	broad.mit.edu	37	9	71155605	71155605	+	Silent	SNP	C	C	T	rs147451213		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:71155605C>T	ENST00000377311.3	-	1	178	c.126G>A	c.(124-126)gcG>gcA	p.A42A	RP11-274B18.4_ENST00000413269.3_lincRNA|RP11-274B18.2_ENST00000432148.1_lincRNA	NM_153237.1	NP_694969.1	Q8N6L7	TM252_HUMAN	transmembrane protein 252	42						integral component of membrane (GO:0016021)											GCAAATAGGCCGCAATCAGGC	0.532																																						uc004agt.2		NaN																	0					0						c.(124-126)GCG>GCA		hypothetical protein LOC169693		C		1,4405	2.1+/-5.4	0,1,2202	66.0	61.0	62.0		126	1.9	0.2	9	dbSNP_134	62	0,8600		0,0,4300	no	coding-synonymous	C9orf71	NM_153237.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		42/171	71155605	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	169693					integral to membrane		g.chr9:71155605C>T	BC029780	CCDS35040.1	9q21.13	2012-07-19	2012-07-19	2012-07-19	ENSG00000181778	ENSG00000181778			28537	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 71"""	C9orf71		12477932	Standard	NM_153237		Approved	MGC34760	uc004agt.3	Q8N6L7	OTTHUMG00000019967	ENST00000377311.3:c.126G>A	9.37:g.71155605C>T							p.A42A	NM_153237	NP_694969	Q8N6L7	CI071_HUMAN			1	179	-			42			Helical; (Potential).			Silent	SNP	ENST00000377311.3	37	c.126G>A	CCDS35040.1																																																																																				0.532	TMEM252-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052551.1		NM_153237		4	46	0	0	0	1	0	4	46		
TJP2	9414	broad.mit.edu	37	9	71851902	71851902	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:71851902G>C	ENST00000377245.4	+	14	2237	c.2029G>C	c.(2029-2031)Gac>Cac	p.D677H	TJP2_ENST00000539225.1_Missense_Mutation_p.D708H|TJP2_ENST00000265384.7_Missense_Mutation_p.D677H|TJP2_ENST00000535702.1_Missense_Mutation_p.D681H|TJP2_ENST00000453658.2_Missense_Mutation_p.D654H|TJP2_ENST00000348208.4_Missense_Mutation_p.D677H	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	677					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TGCCCAGAGAGACAACGCTGG	0.498																																						uc004ahe.2		NaN																	0					0						c.(2029-2031)GAC>CAC		tight junction protein 2 (zona occludens 2)							148.0	166.0	160.0					9																	71851902		2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71851902G>C	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.2029G>C	9.37:g.71851902G>C	ENSP00000366453:p.Asp677His					TJP2_uc011lrs.1_Missense_Mutation_p.D654H|TJP2_uc011lrt.1_Missense_Mutation_p.D654H|TJP2_uc004ahd.2_Missense_Mutation_p.D677H|TJP2_uc004ahf.2_Missense_Mutation_p.D677H|TJP2_uc011lru.1_Missense_Mutation_p.D681H|TJP2_uc011lrv.1_Missense_Mutation_p.D699H	p.D677H	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN			14	2229	+			677					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.2029G>C	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886961	0.91814	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28	5.77	5.77	0.91146	Src homology-3 domain (1);	0.168893	0.53938	D	0.000057	T	0.29945	0.0749	L	0.36672	1.1	0.53688	D	0.999973	D;P;P;P;P	0.61697	0.99;0.58;0.755;0.74;0.895	P;P;P;P;P	0.57620	0.824;0.605;0.518;0.519;0.792	T	0.00132	-1.2012	10	0.38643	T	0.18	.	20.3472	0.98799	0.0:0.0:1.0:0.0	.	708;681;677;677;677	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	H	654;677;677;677;681;708	ENSP00000392178:D654H;ENSP00000366453:D677H;ENSP00000345893:D677H;ENSP00000265384:D677H;ENSP00000442090:D681H;ENSP00000438262:D708H	ENSP00000265384:D677H	D	+	1	0	TJP2	71041722	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.951000	0.87819	2.890000	0.99128	0.650000	0.86243	GAC		0.498	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2		NM_201629		44	175	0	0	0	1	0	44	175		
TJP2	9414	broad.mit.edu	37	9	71851923	71851923	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:71851923G>A	ENST00000377245.4	+	14	2258	c.2050G>A	c.(2050-2052)Gat>Aat	p.D684N	TJP2_ENST00000539225.1_Missense_Mutation_p.D715N|TJP2_ENST00000265384.7_Missense_Mutation_p.D684N|TJP2_ENST00000535702.1_Missense_Mutation_p.D688N|TJP2_ENST00000453658.2_Missense_Mutation_p.D661N|TJP2_ENST00000348208.4_Missense_Mutation_p.D684N	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	684	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GGACCGGGCAGATTTCTGGAG	0.512																																						uc004ahe.2		NaN																	0					0						c.(2050-2052)GAT>AAT		tight junction protein 2 (zona occludens 2)							149.0	167.0	161.0					9																	71851923		2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71851923G>A	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.2050G>A	9.37:g.71851923G>A	ENSP00000366453:p.Asp684Asn					TJP2_uc011lrs.1_Missense_Mutation_p.D661N|TJP2_uc011lrt.1_Missense_Mutation_p.D661N|TJP2_uc004ahd.2_Missense_Mutation_p.D684N|TJP2_uc004ahf.2_Missense_Mutation_p.D684N|TJP2_uc011lru.1_Missense_Mutation_p.D688N|TJP2_uc011lrv.1_Missense_Mutation_p.D706N	p.D684N	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN			14	2250	+			684			Guanylate kinase-like.		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.2050G>A	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	G	36	5.758058	0.96898	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.09817	2.96;2.94;2.96;2.95;2.95;2.99	5.77	5.77	0.91146	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.32466	0.0830	L	0.59912	1.85	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.994;0.998;0.999;0.997	T	0.00086	-1.2095	10	0.42905	T	0.14	.	20.3472	0.98799	0.0:0.0:1.0:0.0	.	715;688;684;684;684	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	N	661;684;684;684;688;715	ENSP00000392178:D661N;ENSP00000366453:D684N;ENSP00000345893:D684N;ENSP00000265384:D684N;ENSP00000442090:D688N;ENSP00000438262:D715N	ENSP00000265384:D684N	D	+	1	0	TJP2	71041743	1.000000	0.71417	0.925000	0.36789	0.988000	0.76386	9.813000	0.99286	2.890000	0.99128	0.650000	0.86243	GAT		0.512	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2		NM_201629		41	173	0	0	0	1	0	41	173		
TJP2	9414	broad.mit.edu	37	9	71852031	71852031	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:71852031G>C	ENST00000377245.4	+	14	2366	c.2158G>C	c.(2158-2160)Gag>Cag	p.E720Q	TJP2_ENST00000539225.1_Missense_Mutation_p.E751Q|TJP2_ENST00000265384.7_Missense_Mutation_p.E720Q|TJP2_ENST00000535702.1_Missense_Mutation_p.E724Q|TJP2_ENST00000453658.2_Missense_Mutation_p.E697Q|TJP2_ENST00000348208.4_Missense_Mutation_p.E720Q	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	720	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CCCAGCTTATGAGAGGGTTTT	0.517																																						uc004ahe.2		NaN																	0					0						c.(2158-2160)GAG>CAG		tight junction protein 2 (zona occludens 2)							119.0	117.0	118.0					9																	71852031		2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71852031G>C	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.2158G>C	9.37:g.71852031G>C	ENSP00000366453:p.Glu720Gln					TJP2_uc011lrs.1_Missense_Mutation_p.E697Q|TJP2_uc011lrt.1_Missense_Mutation_p.E697Q|TJP2_uc004ahd.2_Missense_Mutation_p.E720Q|TJP2_uc004ahf.2_Missense_Mutation_p.E720Q|TJP2_uc011lru.1_Missense_Mutation_p.E724Q|TJP2_uc011lrv.1_Missense_Mutation_p.E742Q	p.E720Q	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN			14	2358	+			720			Guanylate kinase-like.		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.2158G>C	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113421	0.77210	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.13778	2.61;2.56;2.6;2.61;2.6;2.6	5.6	5.6	0.85130	Src homology-3 domain (1);Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	T	0.43678	0.1258	M	0.79693	2.465	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;1.0;0.998;0.999;0.999	T	0.35025	-0.9805	10	0.87932	D	0	.	19.9801	0.97322	0.0:0.0:1.0:0.0	.	751;724;720;720;720	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	Q	697;720;720;720;724;751	ENSP00000392178:E697Q;ENSP00000366453:E720Q;ENSP00000345893:E720Q;ENSP00000265384:E720Q;ENSP00000442090:E724Q;ENSP00000438262:E751Q	ENSP00000265384:E720Q	E	+	1	0	TJP2	71041851	1.000000	0.71417	0.958000	0.39756	0.290000	0.27261	9.813000	0.99286	2.808000	0.96608	0.650000	0.86243	GAG		0.517	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2		NM_201629		24	112	0	0	0	1	0	24	112		
GDA	9615	broad.mit.edu	37	9	74764516	74764516	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:74764516G>T	ENST00000358399.3	+	1	134	c.41G>T	c.(40-42)cGa>cTa	p.R14L	GDA_ENST00000376989.3_5'UTR|GDA_ENST00000376986.1_5'UTR|GDA_ENST00000545168.1_Intron|GDA_ENST00000238018.4_Missense_Mutation_p.R14L	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	14					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)			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)		CACATCTTCCGAGGGACGTTC	0.701																																						uc004aiq.2		NaN																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(40-42)CGA>CTA		guanine deaminase							30.0	25.0	27.0					9																	74764516		2203	4299	6502	SO:0001583	missense	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74764516G>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.41G>T	9.37:g.74764516G>T	ENSP00000351170:p.Arg14Leu					GDA_uc011lse.1_Intron|GDA_uc011lsf.1_5'UTR|GDA_uc004air.2_Missense_Mutation_p.R14L|GDA_uc010mow.1_RNA|GDA_uc004ais.2_5'UTR	p.R14L	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	1	224	+		Myeloproliferative disorder(762;0.0122)	14					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	c.41G>T	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153063	0.78001	.	.	ENSG00000119125	ENST00000238018;ENST00000358399	.	.	.	5.13	3.09	0.35607	.	0.178653	0.45126	D	0.000389	T	0.42698	0.1214	L	0.46157	1.445	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.13407	0.009;0.003	T	0.25813	-1.0121	9	0.22109	T	0.4	-5.8499	4.3453	0.11129	0.1535:0.231:0.6155:0.0	.	14;14	Q9Y2T3-3;Q9Y2T3	.;GUAD_HUMAN	L	14	.	ENSP00000238018:R14L	R	+	2	0	GDA	73954336	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.487000	0.45268	1.344000	0.45657	0.561000	0.74099	CGA		0.701	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1				18	29	1	0	1.33834e-09	1	1.3952e-09	18	29		
TRPM6	140803	broad.mit.edu	37	9	77416817	77416817	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:77416817G>C	ENST00000360774.1	-	16	2243	c.2006C>G	c.(2005-2007)tCa>tGa	p.S669*	TRPM6_ENST00000361255.3_Nonsense_Mutation_p.S664*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.S664*|TRPM6_ENST00000451710.3_Nonsense_Mutation_p.S669*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.S669*|TRPM6_ENST00000376872.3_Intron|RN7SKP47_ENST00000365347.1_RNA	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	669					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CACTTACTTTGAGTAATTCTT	0.408																																						uc004ajl.1		NaN																	0				lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(2005-2007)TCA>TGA		transient receptor potential cation channel,							122.0	111.0	115.0					9																	77416817		2203	4300	6503	SO:0001587	stop_gained	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77416817G>C	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.2006C>G	9.37:g.77416817G>C	ENSP00000354006:p.Ser669*					TRPM6_uc004ajk.1_Nonsense_Mutation_p.S664*|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Nonsense_Mutation_p.S47*	p.S669*	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			16	2244	-			669			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Nonsense_Mutation	SNP	ENST00000360774.1	37	c.2006C>G	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	41	8.631258	0.98892	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.2245	0.93812	0.0:0.0:1.0:0.0	.	.	.	.	X	669;669;664;664;669;332;332	.	ENSP00000309693:S332X	S	-	2	0	TRPM6	76606637	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.809000	0.99208	2.549000	0.85964	0.585000	0.79938	TCA		0.408	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1		NM_017662		18	66	0	0	0	1	0	18	66		
KIF27	55582	broad.mit.edu	37	9	86474218	86474218	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:86474218C>G	ENST00000297814.2	-	14	3146	c.3003G>C	c.(3001-3003)aaG>aaC	p.K1001N	RP11-575L7.4_ENST00000590813.1_RNA|RP11-575L7.4_ENST00000589233.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.K904N|RP11-575L7.4_ENST00000608866.1_RNA|RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000592283.1_RNA|RP11-575L7.4_ENST00000586211.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA|RP11-575L7.4_ENST00000590417.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.K935N|RP11-575L7.4_ENST00000421734.3_RNA|RP11-575L7.4_ENST00000591217.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1001					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GCTGCACATTCTTTTCAGACA	0.423																																						uc004ana.2		NaN																	0				lung(4)|skin(1)	5						c.(3001-3003)AAG>AAC		kinesin family member 27							147.0	127.0	134.0					9																	86474218		2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86474218C>G	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.3003G>C	9.37:g.86474218C>G	ENSP00000297814:p.Lys1001Asn					KIF27_uc010mpw.2_Missense_Mutation_p.K935N|KIF27_uc010mpx.2_Missense_Mutation_p.K904N	p.K1001N	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN			14	3147	-			1001			Potential.		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.3003G>C	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392982	0.42410	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.42513	0.97;0.97;0.97	4.49	3.5	0.40072	.	0.000000	0.56097	D	0.000025	T	0.58793	0.2147	M	0.77103	2.36	0.23277	N	0.997992	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.961;0.999;0.994	T	0.50127	-0.8864	10	0.59425	D	0.04	.	5.0203	0.14358	0.0:0.6205:0.0:0.3795	.	904;935;1001	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	N	1001;935;904	ENSP00000297814:K1001N;ENSP00000401688:K935N;ENSP00000333928:K904N	ENSP00000297814:K1001N	K	-	3	2	KIF27	85664038	1.000000	0.71417	0.971000	0.41717	0.441000	0.31987	1.776000	0.38594	0.974000	0.38366	0.484000	0.47621	AAG		0.423	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1		NM_017576		19	79	0	0	0	1	0	19	79		
AGTPBP1	23287	broad.mit.edu	37	9	88247959	88247959	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:88247959G>A	ENST00000357081.3	-	14	1777	c.1633C>T	c.(1633-1635)Caa>Taa	p.Q545*	AGTPBP1_ENST00000376083.3_Nonsense_Mutation_p.Q505*|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Nonsense_Mutation_p.Q383*|AGTPBP1_ENST00000376109.3_Nonsense_Mutation_p.Q557*			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	545					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GGGGCTGTTTGAGAAGGAATA	0.423																																						uc011ltd.1		NaN																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(1633-1635)CAA>TAA		ATP/GTP binding protein 1							118.0	114.0	116.0					9																	88247959		2203	4300	6503	SO:0001587	stop_gained	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88247959G>A	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.1633C>T	9.37:g.88247959G>A	ENSP00000349592:p.Gln545*					AGTPBP1_uc004aod.3_Nonsense_Mutation_p.Q171*|AGTPBP1_uc011ltc.1_Nonsense_Mutation_p.Q443*|AGTPBP1_uc010mqc.2_Nonsense_Mutation_p.Q505*|AGTPBP1_uc011lte.1_Nonsense_Mutation_p.Q557*	p.Q545*	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN			13	1666	-			545					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Nonsense_Mutation	SNP	ENST00000357081.3	37	c.1633C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.187115	0.97357	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218	.	.	.	5.92	4.97	0.65823	.	0.452244	0.23581	N	0.046646	.	.	.	.	.	.	0.20403	N	0.9999	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-3.9526	8.6602	0.34088	0.0:0.2297:0.4997:0.2706	.	.	.	.	X	545;505;557;383	.	ENSP00000349592:Q545X	Q	-	1	0	AGTPBP1	87437779	0.729000	0.28090	0.074000	0.20217	0.720000	0.41350	2.042000	0.41222	2.810000	0.96702	0.650000	0.86243	CAA		0.423	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1		NM_015239		15	56	0	0	0	1	0	15	56		
SPATA31E1	286234	broad.mit.edu	37	9	90497818	90497818	+	Silent	SNP	C	C	T	rs377006333		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:90497818C>T	ENST00000325643.5	+	1	78	c.12C>T	c.(10-12)ctC>ctT	p.L4L		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	4					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGGGAAATCTCGTCATCCCTC	0.607																																						uc004app.3		NaN																	0				ovary(3)	3						c.(10-12)CTC>CTT		chromosome 9 open reading frame 79							59.0	52.0	54.0					9																	90497818		2203	4300	6503	SO:0001819	synonymous_variant	286234					integral to membrane		g.chr9:90497818C>T	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.12C>T	9.37:g.90497818C>T						C9orf79_uc004apo.1_Silent_p.L4L	p.L4L	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			1	47	+			4					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.12C>T	CCDS6676.1																																																																																				0.607	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2		NM_178828		17	39	0	0	0	1	0	17	39		
SPTLC1	10558	broad.mit.edu	37	9	94809914	94809914	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:94809914G>C	ENST00000262554.2	-	10	970	c.965C>G	c.(964-966)tCt>tGt	p.S322C		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	322					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	AATTACAAAAGACCTGCCACA	0.388																																						uc004arl.1		NaN																	0				ovary(1)|breast(1)	2						c.(964-966)TCT>TGT		serine palmitoyltransferase subunit 1 isoform a	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						61.0	57.0	58.0					9																	94809914		2203	4300	6503	SO:0001583	missense	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94809914G>C	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.965C>G	9.37:g.94809914G>C	ENSP00000262554:p.Ser322Cys					SPTLC1_uc011ltv.1_Missense_Mutation_p.S322C	p.S322C	NM_006415	NP_006406	O15269	SPTC1_HUMAN			10	1003	-			322			Cytoplasmic (Potential).		A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	ENST00000262554.2	37	c.965C>G	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353268	0.82132	.	.	ENSG00000090054	ENST00000262554	D	0.95307	-3.67	5.09	5.09	0.68999	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.168641	0.53938	D	0.000043	D	0.97402	0.9150	M	0.88704	2.975	0.80722	D	1	D;D	0.59357	0.985;0.971	P;P	0.61275	0.886;0.84	D	0.97891	1.0297	10	0.66056	D	0.02	-15.4966	18.7423	0.91779	0.0:0.0:1.0:0.0	.	322;322	Q6NUL7;O15269	.;SPTC1_HUMAN	C	322	ENSP00000262554:S322C	ENSP00000262554:S322C	S	-	2	0	SPTLC1	93849735	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	9.516000	0.98017	2.642000	0.89623	0.650000	0.86243	TCT		0.388	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1		NM_006415		5	19	0	0	0	1	0	5	19		
ZNF484	83744	broad.mit.edu	37	9	95610035	95610035	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:95610035C>T	ENST00000375495.3	-	5	1182	c.1034G>A	c.(1033-1035)aGa>aAa	p.R345K	ZNF484_ENST00000395506.3_Missense_Mutation_p.R347K|ZNF484_ENST00000332591.6_Missense_Mutation_p.R309K|ZNF484_ENST00000395505.2_Missense_Mutation_p.R309K|ANKRD19P_ENST00000473204.1_RNA	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	345					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)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TCTCTGGCATCTGAACAGATC	0.363																																						uc004asu.1		NaN																	0					0						c.(1033-1035)AGA>AAA		zinc finger protein 484 isoform a							65.0	66.0	66.0					9																	95610035		2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95610035C>T	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1034G>A	9.37:g.95610035C>T	ENSP00000364645:p.Arg345Lys					ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.R347K|ZNF484_uc010mrb.1_Missense_Mutation_p.R309K|ZNF484_uc004asv.1_Missense_Mutation_p.R309K	p.R345K	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN			5	1183	-			345			C2H2-type 3; degenerate.		B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.1034G>A	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	0.015	-1.557705	0.00910	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	2.6	2.6	0.31112	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12987	0.0315	N	0.10945	0.07	0.09310	N	1	B;B	0.22414	0.069;0.04	B;B	0.20767	0.031;0.031	T	0.28459	-1.0043	9	0.05833	T	0.94	.	7.582	0.27970	0.0:0.7335:0.2665:0.0	.	347;345	B4DRI2;Q5JVG2	.;ZN484_HUMAN	K	309;347;345;309	ENSP00000378881:R309K;ENSP00000378882:R347K;ENSP00000364645:R345K;ENSP00000364646:R309K	ENSP00000364646:R309K	R	-	2	0	ZNF484	94649856	0.000000	0.05858	0.319000	0.25293	0.777000	0.43975	-1.122000	0.03267	1.786000	0.52430	0.638000	0.83543	AGA		0.363	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2		XM_046861		15	47	0	0	0	1	0	15	47		
CTSV	1515	broad.mit.edu	37	9	99795232	99795232	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:99795232C>T	ENST00000259470.5	-	8	1253	c.1004G>A	c.(1003-1005)tGa>tAa	p.*335*	CTSV_ENST00000538255.1_Silent_p.*335*	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	0					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)										TCCATCAGCTCACACATTGGG	0.468																																						uc004awt.2		NaN																	0					0						c.(1003-1005)TGA>TAA		cathepsin L2 preproprotein							124.0	104.0	111.0					9																	99795232		2203	4300	6503	SO:0001819	synonymous_variant	1515					lysosome	cysteine-type endopeptidase activity	g.chr9:99795232C>T	Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"""Cathepsins"""	2538	protein-coding gene	gene with protein product		603308	"""cathepsin L2"""	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.1004G>A	9.37:g.99795232C>T						CTSL2_uc010msi.2_Silent_p.*335*|CTSL2_uc004awu.2_Silent_p.*280*	p.*335*	NM_001333	NP_001324	O60911	CATL2_HUMAN			8	1201	-		Acute lymphoblastic leukemia(62;0.0559)	335					O60233|Q2TB86|Q5T1U0	Silent	SNP	ENST00000259470.5	37	c.1004G>A	CCDS6723.1																																																																																				0.468	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053301.2		NM_001333		11	51	0	0	0	1	0	11	51		
NCBP1	4686	broad.mit.edu	37	9	100417166	100417166	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:100417166C>T	ENST00000375147.3	+	12	1431	c.1175C>T	c.(1174-1176)gCa>gTa	p.A392V		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	392					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TCACAGCTTGCACAGGCAACT	0.358																																					Ovarian(36;879 898 2893 44212 50307)	uc004axq.2		NaN																	0				central_nervous_system(1)	1						c.(1174-1176)GCA>GTA		nuclear cap binding protein subunit 1, 80kDa							109.0	98.0	102.0					9																	100417166		2203	4300	6503	SO:0001583	missense	4686				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	g.chr9:100417166C>T	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.1175C>T	9.37:g.100417166C>T	ENSP00000364289:p.Ala392Val						p.A392V	NM_002486	NP_002477	Q09161	NCBP1_HUMAN			12	1634	+		Acute lymphoblastic leukemia(62;0.158)	392					B2R718|Q59G76|Q5T1V0|Q5T7X2	Missense_Mutation	SNP	ENST00000375147.3	37	c.1175C>T	CCDS6728.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216230	0.95104	.	.	ENSG00000136937	ENST00000375147	.	.	.	4.78	4.78	0.61160	MIF4G-like, type 1 (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	M	0.73753	2.245	0.80722	D	1	P	0.50943	0.94	P	0.58391	0.838	T	0.79778	-0.1660	9	0.66056	D	0.02	-17.0368	18.2883	0.90121	0.0:1.0:0.0:0.0	.	392	Q09161	NCBP1_HUMAN	V	392	.	ENSP00000364289:A392V	A	+	2	0	NCBP1	99456987	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.388000	0.79795	2.576000	0.86940	0.650000	0.86243	GCA		0.358	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1		NM_002486		11	38	0	0	0	1	0	11	38		
ABCA1	19	broad.mit.edu	37	9	107571819	107571819	+	Missense_Mutation	SNP	G	G	A	rs372821558		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:107571819G>A	ENST00000374736.3	-	30	4596	c.4202C>T	c.(4201-4203)aCc>aTc	p.T1401I		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1401					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GAGTTCCAGGGTTCCCGTGTC	0.483																																						uc004bcl.2		NaN																	0				large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(4201-4203)ACC>ATC		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	G	ILE/THR	1,4405	2.1+/-5.4	0,1,2202	105.0	102.0	103.0		4202	4.9	1.0	9		103	0,8600		0,0,4300	no	missense	ABCA1	NM_005502.3	89	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1401/2262	107571819	1,13005	2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107571819G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4202C>T	9.37:g.107571819G>A	ENSP00000363868:p.Thr1401Ile						p.T1401I	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	30	4515	-			1401			Extracellular.		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.4202C>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	8.021	0.759595	0.15846	2.27E-4	0.0	ENSG00000165029	ENST00000374736	D	0.93604	-3.25	5.77	4.88	0.63580	.	0.184818	0.64402	N	0.000017	D	0.89924	0.6856	L	0.48642	1.525	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	D	0.85728	0.1329	10	0.20519	T	0.43	.	14.6757	0.68978	0.0693:0.0:0.9307:0.0	.	1401	O95477	ABCA1_HUMAN	I	1401	ENSP00000363868:T1401I	ENSP00000363868:T1401I	T	-	2	0	ABCA1	106611640	1.000000	0.71417	0.958000	0.39756	0.162000	0.22319	3.865000	0.56033	1.466000	0.48025	0.650000	0.86243	ACC		0.483	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1		NM_005502		10	35	0	0	0	1	0	10	35		
RAD23B	5887	broad.mit.edu	37	9	110086268	110086268	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:110086268G>C	ENST00000358015.3	+	8	1266	c.915G>C	c.(913-915)caG>caC	p.Q305H	RAD23B_ENST00000416373.2_Missense_Mutation_p.Q233H	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	305	STI1.				DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TACTACAGCAGATAGGTCGAG	0.408								Direct reversal of damage;Nucleotide excision repair (NER)																														uc004bde.2		NaN																	0				ovary(1)	1						c.(913-915)CAG>CAC	Direct_reversal_of_damage|NER	UV excision repair protein RAD23 homolog B							156.0	140.0	145.0					9																	110086268		2203	4300	6503	SO:0001583	missense	5887				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr9:110086268G>C		CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.915G>C	9.37:g.110086268G>C	ENSP00000350708:p.Gln305His					RAD23B_uc011lwa.1_Missense_Mutation_p.Q305H|RAD23B_uc011lwb.1_Missense_Mutation_p.Q284H	p.Q305H	NM_002874	NP_002865	P54727	RD23B_HUMAN			8	1282	+			305			STI1.		B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Missense_Mutation	SNP	ENST00000358015.3	37	c.915G>C	CCDS6769.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766713	0.69878	.	.	ENSG00000119318	ENST00000358015;ENST00000416373	T;T	0.21361	2.01;2.01	5.51	3.38	0.38709	XPC-binding domain (3);Heat shock chaperonin-binding (1);	0.048733	0.85682	D	0.000000	T	0.42245	0.1194	M	0.79011	2.435	0.58432	D	0.999998	D;P;D	0.71674	0.998;0.95;0.975	D;D;P	0.68943	0.961;0.913;0.876	T	0.36841	-0.9731	10	0.87932	D	0	-0.4919	8.7031	0.34338	0.3861:0.0:0.6139:0.0	.	284;305;305	B7Z4W4;B4DEA3;P54727	.;.;RD23B_HUMAN	H	305;233	ENSP00000350708:Q305H;ENSP00000405623:Q233H	ENSP00000350708:Q305H	Q	+	3	2	RAD23B	109126089	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	1.735000	0.38176	1.205000	0.43262	0.650000	0.86243	CAG		0.408	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1		NM_002874		15	46	0	0	0	1	0	15	46		
PTPN3	5774	broad.mit.edu	37	9	112153421	112153421	+	Silent	SNP	C	C	T	rs531494928		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:112153421C>T	ENST00000374541.2	-	21	2207	c.2103G>A	c.(2101-2103)gtG>gtA	p.V701V	PTPN3_ENST00000497739.1_5'UTR|PTPN3_ENST00000412145.1_Silent_p.V570V|PTPN3_ENST00000394827.3_Silent_p.V169V|PTPN3_ENST00000262539.3_Silent_p.V547V|PTPN3_ENST00000446349.1_Silent_p.V525V	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	701	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AACTTACGTTCACGTAACTTG	0.438																																						uc004bed.2		NaN																	0				ovary(3)	3						c.(2101-2103)GTG>GTA		protein tyrosine phosphatase, non-receptor type							110.0	84.0	93.0					9																	112153421		2203	4300	6503	SO:0001819	synonymous_variant	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112153421C>T		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.2103G>A	9.37:g.112153421C>T						PTPN3_uc004beb.2_Silent_p.V570V|PTPN3_uc004bec.2_Silent_p.V525V|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.V656V|PTPN3_uc011lwh.1_Silent_p.V547V|PTPN3_uc011lwd.1_Silent_p.V169V|PTPN3_uc011lwe.1_Silent_p.V414V|PTPN3_uc011lwf.1_Silent_p.V369V	p.V701V	NM_002829	NP_002820	P26045	PTN3_HUMAN			21	2215	-			701			Tyrosine-protein phosphatase.		A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	c.2103G>A	CCDS6776.1																																																																																				0.438	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4				7	19	0	0	0	1	0	7	19		
FKBP15	23307	broad.mit.edu	37	9	115969571	115969571	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:115969571G>C	ENST00000238256.3	-	3	292	c.175C>G	c.(175-177)Cag>Gag	p.Q59E	FKBP15_ENST00000493847.1_5'UTR	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	59					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GGTGTTGCCTGATTTCCTGAA	0.428																																						uc004bgs.2		NaN																	0				ovary(3)	3						c.(175-177)CAG>GAG		FK506 binding protein 15, 133kDa							360.0	369.0	366.0					9																	115969571		2091	4218	6309	SO:0001583	missense	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115969571G>C	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.175C>G	9.37:g.115969571G>C	ENSP00000238256:p.Gln59Glu					FKBP15_uc010muu.1_Missense_Mutation_p.Q123E|FKBP15_uc011lxd.1_Translation_Start_Site|FKBP15_uc010mut.1_Intron|FKBP15_uc004bgt.2_Missense_Mutation_p.Q59E	p.Q59E	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN			3	293	-			59					Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	c.175C>G	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365168	0.61513	.	.	ENSG00000119321	ENST00000446284;ENST00000238256;ENST00000414250	T;T;T	0.32988	1.82;1.83;1.43	6.04	6.04	0.98038	.	.	.	.	.	T	0.43831	0.1265	M	0.62723	1.935	0.36671	D	0.878478	P;P;P	0.50943	0.94;0.792;0.716	P;B;B	0.50659	0.647;0.337;0.345	T	0.46498	-0.9187	9	0.46703	T	0.11	-6.6964	16.0949	0.81114	0.0:0.0:1.0:0.0	.	59;59;59	Q5T1M5-2;Q5T1M5-3;Q5T1M5	.;.;FKB15_HUMAN	E	84;59;84	ENSP00000416158:Q84E;ENSP00000238256:Q59E;ENSP00000415733:Q84E	ENSP00000238256:Q59E	Q	-	1	0	FKBP15	115009392	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.261000	0.65496	2.873000	0.98535	0.563000	0.77884	CAG		0.428	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_015258		48	207	0	0	0	1	0	48	207		
ORM1	5004	broad.mit.edu	37	9	117087340	117087340	+	Missense_Mutation	SNP	G	G	C	rs143596557		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:117087340G>C	ENST00000259396.8	+	5	526	c.448G>C	c.(448-450)Gag>Cag	p.E150Q	ORM1_ENST00000477456.1_3'UTR	NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN	orosomucoid 1	150					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Abiraterone(DB05812)|Acenocoumarol(DB01418)|Ajmaline(DB01426)|Alfentanil(DB00802)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aprindine(DB01429)|Bupropion(DB01156)|Canagliflozin(DB08907)|Celecoxib(DB00482)|Chlorpromazine(DB00477)|Desipramine(DB01151)|Disopyramide(DB00280)|Doxazosin(DB00590)|Doxepin(DB01142)|Erlotinib(DB00530)|Fluoxetine(DB00472)|Gefitinib(DB00317)|Imatinib(DB00619)|Imipramine(DB00458)|Ivacaftor(DB08820)|Maprotiline(DB00934)|Mirabegron(DB08893)|Nateglinide(DB00731)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxycodone(DB00497)|Penbutolol(DB01359)|Pethidine(DB00454)|Phenprocoumon(DB00946)|Pitavastatin(DB08860)|Prazosin(DB00457)|Propranolol(DB00571)|Quinidine(DB00908)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Tamsulosin(DB00706)|Telaprevir(DB05521)|Thalidomide(DB01041)|Trazodone(DB00656)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Vismodegib(DB08828)|Warfarin(DB00682)	TGACAAGCCAGAGACGACCAA	0.612																																						uc004bik.3		NaN																	0					0						c.(448-450)GAG>CAG		orosomucoid 1 precursor	Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	G	GLN/GLU	1,4405		0,1,2202	75.0	86.0	82.0		448	-2.4	0.0	9	dbSNP_134	82	0,8594		0,0,4297	no	missense	ORM1	NM_000607.2	29	0,1,6499	CC,CG,GG		0.0,0.0227,0.0077	possibly-damaging	150/202	117087340	1,12999	2203	4297	6500	SO:0001583	missense	5004				acute-phase response|regulation of immune system process|transport	extracellular space	protein binding	g.chr9:117087340G>C		CCDS6803.1	9q32	2013-09-19			ENSG00000229314	ENSG00000229314		"""Lipocalins"""	8498	protein-coding gene	gene with protein product		138600					Standard	NM_000607		Approved		uc004bik.4	P02763	OTTHUMG00000021012	ENST00000259396.8:c.448G>C	9.37:g.117087340G>C	ENSP00000259396:p.Glu150Gln					ORM1_uc011lxo.1_Intron	p.E150Q	NM_000607	NP_000598	P02763	A1AG1_HUMAN			5	559	+		Myeloproliferative disorder(63;0.163)	150					B7ZKQ5|Q5T539|Q5U067|Q8TC16	Missense_Mutation	SNP	ENST00000259396.8	37	c.448G>C	CCDS6803.1	.	.	.	.	.	.	.	.	.	.	-	14.25	2.478926	0.44044	2.27E-4	0.0	ENSG00000229314	ENST00000259396	T	0.10099	2.91	4.24	-2.43	0.06522	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.504304	0.21108	N	0.080030	T	0.06234	0.0161	L	0.31065	0.9	0.09310	N	1	B	0.19200	0.034	B	0.20384	0.029	T	0.27606	-1.0069	10	0.38643	T	0.18	-18.9264	5.5129	0.16890	0.2325:0.493:0.2745:0.0	.	150	P02763	A1AG1_HUMAN	Q	150	ENSP00000259396:E150Q	ENSP00000259396:E150Q	E	+	1	0	ORM1	116127161	0.000000	0.05858	0.000000	0.03702	0.211000	0.24417	-0.165000	0.09968	-0.203000	0.10251	0.205000	0.17691	GAG		0.612	ORM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055426.1				18	61	0	0	0	1	0	18	61		
TNC	3371	broad.mit.edu	37	9	117838737	117838737	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:117838737G>A	ENST00000350763.4	-	8	3203	c.2792C>T	c.(2791-2793)tCt>tTt	p.S931F	TNC_ENST00000345230.3_Missense_Mutation_p.S931F|TNC_ENST00000423613.2_Missense_Mutation_p.S931F|TNC_ENST00000542877.1_Missense_Mutation_p.S931F|TNC_ENST00000341037.4_Missense_Mutation_p.S931F|TNC_ENST00000535648.1_Missense_Mutation_p.S931F|TNC_ENST00000537320.1_Missense_Mutation_p.S931F|TNC_ENST00000346706.3_Missense_Mutation_p.S931F|TNC_ENST00000340094.3_Missense_Mutation_p.S931F	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	931	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTCCCCTCCAGAGATGGGGGC	0.507																																						uc004bjj.3		NaN																	0				central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(2791-2793)TCT>TTT		tenascin C precursor							266.0	242.0	250.0					9																	117838737		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117838737G>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2792C>T	9.37:g.117838737G>A	ENSP00000265131:p.Ser931Phe					TNC_uc010mvf.2_Missense_Mutation_p.S931F	p.S931F	NM_002160	NP_002151	P24821	TENA_HUMAN			8	3154	-			931			Fibronectin type-III 4.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.2792C>T	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418505	0.83559	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34	5.83	5.83	0.93111	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.171732	0.53938	D	0.000054	T	0.74504	0.3725	M	0.75150	2.29	0.80722	D	1	D;D	0.67145	0.996;0.957	D;D	0.76575	0.988;0.949	T	0.75662	-0.3240	10	0.72032	D	0.01	.	20.1029	0.97881	0.0:0.0:1.0:0.0	.	931;931	E9PC84;P24821	.;TENA_HUMAN	F	931	ENSP00000344400:S931F;ENSP00000438152:S931F;ENSP00000344555:S931F;ENSP00000345861:S931F;ENSP00000265131:S931F;ENSP00000339553:S931F;ENSP00000411406:S931F;ENSP00000443478:S931F;ENSP00000442242:S931F	ENSP00000344400:S931F	S	-	2	0	TNC	116878558	1.000000	0.71417	0.988000	0.46212	0.653000	0.38743	7.542000	0.82095	2.754000	0.94517	0.655000	0.94253	TCT		0.507	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2		NM_002160		64	168	0	0	0	1	0	64	168		
MEGF9	1955	broad.mit.edu	37	9	123476050	123476050	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:123476050G>C	ENST00000373930.3	-	1	698	c.587C>G	c.(586-588)tCt>tGt	p.S196C	MEGF9_ENST00000426959.1_Missense_Mutation_p.S188C	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	196	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						AGGAGGCGAAGAGGGGGCCTC	0.682																																						uc004bkj.1		NaN																	0					0						c.(562-564)TCT>TGT		multiple EGF-like-domains 9							7.0	10.0	9.0					9																	123476050		1824	3929	5753	SO:0001583	missense	1955					integral to membrane	calcium ion binding	g.chr9:123476050G>C	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.587C>G	9.37:g.123476050G>C	ENSP00000363040:p.Ser196Cys					MEGF9_uc011lyb.1_Missense_Mutation_p.S188C|MEGF9_uc004bkk.3_Missense_Mutation_p.S188C	p.S188C	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN			1	563	-			196			Extracellular (Potential).|Pro-rich.		B7Z315|O75098	Missense_Mutation	SNP	ENST00000373930.3	37	c.563C>G	CCDS48010.2	.	.	.	.	.	.	.	.	.	.	G	9.829	1.187788	0.21954	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	T;T	0.19669	2.13;2.13	3.42	3.42	0.39159	.	1.429250	0.04550	N	0.389656	T	0.34221	0.0890	L	0.47716	1.5	0.09310	N	1	D;D	0.71674	0.998;0.996	P;P	0.54372	0.75;0.75	T	0.23119	-1.0197	10	0.51188	T	0.08	-3.0282	10.5425	0.45041	0.0:0.0:1.0:0.0	.	196;188	Q9H1U4;C9J1K8	MEGF9_HUMAN;.	C	196;188	ENSP00000363040:S196C;ENSP00000392666:S188C	ENSP00000363040:S196C	S	-	2	0	MEGF9	122515871	0.661000	0.27430	0.140000	0.22221	0.059000	0.15707	4.046000	0.57376	1.900000	0.55004	0.579000	0.79373	TCT		0.682	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1		NM_001080497		6	23	0	0	0	1	0	6	23		
GSN	2934	broad.mit.edu	37	9	124065295	124065295	+	Silent	SNP	C	C	T	rs373779982		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:124065295C>T	ENST00000373818.4	+	3	525	c.456C>T	c.(454-456)ttC>ttT	p.F152F	GSN_ENST00000341272.2_Silent_p.F101F|GSN_ENST00000394353.2_Silent_p.F112F|GSN_ENST00000373823.3_Silent_p.F101F|GSN_ENST00000373808.2_Silent_p.F101F|GSN_ENST00000412819.1_Silent_p.F101F|GSN_ENST00000436847.1_Silent_p.F112F|GSN_ENST00000545652.1_Silent_p.F109F|GSN_ENST00000449733.1_Silent_p.F101F	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	152	Actin-severing. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TCCAGGGCTTCGAGTCGGCCA	0.617																																						uc004blf.1		NaN																	0				breast(2)|ovary(1)	3						c.(454-456)TTC>TTT		gelsolin isoform a precursor		C	,,,,,,,	1,4405	2.1+/-5.4	0,1,2202	66.0	64.0	65.0		456,303,303,303,303,336,336,303	-7.6	0.5	9		65	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GSN	NM_000177.4,NM_001127662.1,NM_001127663.1,NM_001127664.1,NM_001127665.1,NM_001127666.1,NM_001127667.1,NM_198252.2	,,,,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,,,,	152/783,101/732,101/732,101/732,101/732,112/743,112/743,101/732	124065295	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124065295C>T	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.456C>T	9.37:g.124065295C>T						GSN_uc004bld.1_Silent_p.F101F|GSN_uc010mvq.1_Silent_p.F112F|GSN_uc010mvr.1_Silent_p.F112F|GSN_uc010mvu.1_Silent_p.F101F|GSN_uc010mvt.1_Silent_p.F101F|GSN_uc010mvs.1_Silent_p.F101F|GSN_uc004ble.1_Silent_p.F101F|GSN_uc010mvv.1_Silent_p.F101F|GSN_uc011lyh.1_Silent_p.F118F|GSN_uc011lyi.1_Silent_p.F101F|GSN_uc011lyj.1_Silent_p.F125F	p.F152F	NM_000177	NP_000168	P06396	GELS_HUMAN			3	517	+			152			Actin-severing (Potential).		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Silent	SNP	ENST00000373818.4	37	c.456C>T	CCDS6828.1																																																																																				0.617	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1		NM_000177		28	112	0	0	0	1	0	28	112		
DAB2IP	153090	broad.mit.edu	37	9	124522678	124522678	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:124522678C>G	ENST00000408936.3	+	6	1312	c.1130C>G	c.(1129-1131)tCt>tGt	p.S377C	DAB2IP_ENST00000259371.2_Missense_Mutation_p.S349C|DAB2IP_ENST00000309989.1_Missense_Mutation_p.S253C			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	377	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GAGATGGCATCTGCCCTGGTG	0.622																																						uc004bln.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1045-1047)TCT>TGT		disabled homolog 2 interacting protein isoform							52.0	38.0	43.0					9																	124522678		2203	4300	6503	SO:0001583	missense	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124522678C>G	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1130C>G	9.37:g.124522678C>G	ENSP00000386183:p.Ser377Cys					DAB2IP_uc004blo.2_Missense_Mutation_p.S253C	p.S349C	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN			6	1115	+			377			Ras-GAP.		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	37	c.1046C>G		.	.	.	.	.	.	.	.	.	.	C	10.75	1.437408	0.25900	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	4.81	4.81	0.61882	.	0.052502	0.85682	D	0.000000	T	0.14527	0.0351	N	0.17345	0.48	0.50039	D	0.999848	B	0.09022	0.002	B	0.13407	0.009	T	0.08617	-1.0713	10	0.18276	T	0.48	.	17.2474	0.87032	0.0:1.0:0.0:0.0	.	349	G3XA90	.	C	349;377;286;253	ENSP00000259371:S349C;ENSP00000386183:S377C;ENSP00000362887:S286C;ENSP00000310827:S253C	ENSP00000259371:S349C	S	+	2	0	DAB2IP	123562499	0.997000	0.39634	0.991000	0.47740	0.996000	0.88848	2.882000	0.48546	2.375000	0.81037	0.561000	0.74099	TCT		0.622	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1		NM_032552		12	38	0	0	0	1	0	12	38		
GOLGA2	2801	broad.mit.edu	37	9	131030767	131030767	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:131030767C>T	ENST00000421699.2	-	3	256	c.244G>A	c.(244-246)Gat>Aat	p.D82N	GOLGA2_ENST00000609374.1_Missense_Mutation_p.D70N	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	82					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						ACGGTGTCATCAGATGGTTGT	0.592																																						uc011maw.1		NaN																	0				ovary(1)	1						c.(244-246)GAT>AAT		Golgi autoantigen, golgin subfamily a, 2							84.0	59.0	67.0					9																	131030767		2203	4300	6503	SO:0001583	missense	2801					Golgi cisterna membrane	protein binding	g.chr9:131030767C>T	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.244G>A	9.37:g.131030767C>T	ENSP00000416097:p.Asp82Asn					GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004bul.1_5'UTR|GOLGA2_uc004bum.1_5'UTR	p.D82N	NM_004486	NP_004477	Q08379	GOGA2_HUMAN			3	257	-			82			Potential.		Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	c.244G>A	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	c	12.64	1.999102	0.35226	.	.	ENSG00000167110	ENST00000421699;ENST00000450617	T;T	0.20598	2.06;2.59	5.61	2.58	0.30949	.	2.211840	0.01674	N	0.025753	T	0.06600	0.0169	N	0.00347	-1.61	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.22765	-1.0207	10	0.25106	T	0.35	.	5.7608	0.18199	0.0:0.6601:0.1571:0.1828	.	82	Q08379	GOGA2_HUMAN	N	82;109	ENSP00000416097:D82N;ENSP00000409271:D109N	ENSP00000416097:D82N	D	-	1	0	GOLGA2	130070588	0.801000	0.28930	0.006000	0.13384	0.002000	0.02628	0.563000	0.23547	0.327000	0.23409	0.655000	0.94253	GAT		0.592	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2		NM_004486		11	35	0	0	0	1	0	11	35		
ODF2	4957	broad.mit.edu	37	9	131258398	131258398	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:131258398C>G	ENST00000434106.3	+	18	2353	c.1990C>G	c.(1990-1992)Ctg>Gtg	p.L664V	ODF2_ENST00000444119.2_Missense_Mutation_p.L640V|ODF2_ENST00000351030.3_Missense_Mutation_p.L659V|ODF2_ENST00000372807.5_Missense_Mutation_p.L659V|ODF2_ENST00000604420.1_Missense_Mutation_p.L664V|ODF2_ENST00000393527.3_Missense_Mutation_p.L640V	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	664					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						ACAGCTGAGTCTGAAGGTGGA	0.483																																						uc011mbd.1		NaN																	0				ovary(1)	1						c.(1990-1992)CTG>GTG		outer dense fiber of sperm tails 2 isoform 1							120.0	111.0	114.0					9																	131258398		2203	4300	6503	SO:0001583	missense	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131258398C>G	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1990C>G	9.37:g.131258398C>G	ENSP00000403453:p.Leu664Val					ODF2_uc004bvb.2_Missense_Mutation_p.L640V|ODF2_uc011mbe.1_Missense_Mutation_p.L659V|ODF2_uc004bvc.2_Missense_Mutation_p.L640V|ODF2_uc004bvd.3_Missense_Mutation_p.L664V|ODF2_uc004bvh.2_Missense_Mutation_p.L18V	p.L664V	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN			18	2301	+			664			Potential.		B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	c.1990C>G	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.919039	0.33908	.	.	ENSG00000136811	ENST00000351030;ENST00000372796;ENST00000303890	T;T;T	0.62788	-0.0;-0.0;-0.0	5.82	5.82	0.92795	.	0.341469	0.27654	N	0.018419	T	0.50411	0.1614	L	0.47190	1.495	0.80722	D	1	B;B;B	0.26775	0.159;0.005;0.085	B;B;B	0.23018	0.043;0.008;0.023	T	0.47497	-0.9113	10	0.30078	T	0.28	-9.6021	7.3111	0.26475	0.1699:0.7436:0.0:0.0865	.	659;664;640	Q5BJF6-4;Q5BJF6;Q5BJF6-3	.;ODFP2_HUMAN;.	V	659;664;640	ENSP00000342581:L659V;ENSP00000361882:L664V;ENSP00000307781:L640V	ENSP00000307781:L640V	L	+	1	2	ODF2	130298219	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.824000	0.27379	2.752000	0.94435	0.655000	0.94253	CTG		0.483	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3				23	82	0	0	0	1	0	23	82		
ZER1	10444	broad.mit.edu	37	9	131515056	131515056	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:131515056G>A	ENST00000291900.2	-	5	1225	c.819C>T	c.(817-819)ctC>ctT	p.L273L	ZER1_ENST00000494461.1_5'Flank	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	273					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						TCTGCACAAAGAGGCTCAGCA	0.557																																						uc004bwa.1		NaN																	0				ovary(1)	1						c.(817-819)CTC>CTT		zyg-11 homolog B (C. elegans)-like							99.0	91.0	94.0					9																	131515056		2203	4300	6503	SO:0001819	synonymous_variant	10444				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	g.chr9:131515056G>A	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.819C>T	9.37:g.131515056G>A							p.L273L	NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN			5	1252	-			273					O00156|Q5T272|Q5T273	Silent	SNP	ENST00000291900.2	37	c.819C>T	CCDS6910.1																																																																																				0.557	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1		NM_006336		13	70	0	0	0	1	0	13	70		
C9orf50	375759	broad.mit.edu	37	9	132375791	132375791	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:132375791C>G	ENST00000372478.4	-	5	1167	c.966G>C	c.(964-966)gaG>gaC	p.E322D	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	322										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				TGGGCAAACTCTCCAGCCGTT	0.632																																						uc004byc.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(964-966)GAG>GAC		hypothetical protein LOC375759							65.0	64.0	64.0					9																	132375791		2203	4300	6503	SO:0001583	missense	375759							g.chr9:132375791C>G	AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058			23677	protein-coding gene	gene with protein product							Standard	NM_199350		Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.966G>C	9.37:g.132375791C>G	ENSP00000361556:p.Glu322Asp					C9orf50_uc004byb.3_RNA	p.E322D	NM_199350	NP_955382	Q5SZB4	CI050_HUMAN			5	1168	-		Ovarian(14;0.00556)	322					Q2M1I2|Q8NA65	Missense_Mutation	SNP	ENST00000372478.4	37	c.966G>C	CCDS35159.1	.	.	.	.	.	.	.	.	.	.	C	8.348	0.830315	0.16749	.	.	ENSG00000179058	ENST00000372478	T	0.18657	2.2	3.27	1.25	0.21368	.	0.424160	0.17506	N	0.171784	T	0.07908	0.0198	N	0.12746	0.255	0.21290	N	0.99974	B	0.30146	0.27	B	0.25291	0.059	T	0.35773	-0.9775	10	0.08599	T	0.76	-12.3991	5.4732	0.16682	0.2212:0.5412:0.2376:0.0	.	322	Q5SZB4	CI050_HUMAN	D	322	ENSP00000361556:E322D	ENSP00000361556:E322D	E	-	3	2	C9orf50	131415612	0.119000	0.22226	0.802000	0.32245	0.021000	0.10359	0.051000	0.14141	0.343000	0.23821	0.456000	0.33151	GAG		0.632	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054593.1		NM_199350		32	84	0	0	0	1	0	32	84		
TOR1A	1861	broad.mit.edu	37	9	132584879	132584879	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:132584879G>C	ENST00000351698.4	-	2	473	c.425C>G	c.(424-426)tCa>tGa	p.S142*	TOR1A_ENST00000473084.1_5'UTR	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	142	Interaction with SNAPIN.				ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				GGTGATGTTTGAAGCATGTGG	0.463																																						uc004byl.2		NaN																	0				central_nervous_system(1)	1						c.(424-426)TCA>TGA		torsin A precursor							131.0	106.0	114.0					9																	132584879		2203	4300	6503	SO:0001587	stop_gained	1861				chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding	g.chr9:132584879G>C	AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"""dystonia 1, torsion (autosomal dominant; torsin A)"""	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.425C>G	9.37:g.132584879G>C	ENSP00000345719:p.Ser142*					TOR1A_uc004bym.2_RNA|TOR1A_uc004byn.2_Nonsense_Mutation_p.S142*	p.S142*	NM_000113	NP_000104	O14656	TOR1A_HUMAN			2	502	-		Ovarian(14;0.00556)	142					B2RB58|Q53Y64|Q96CA0	Nonsense_Mutation	SNP	ENST00000351698.4	37	c.425C>G	CCDS6930.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781423	0.31502	.	.	ENSG00000136827	ENST00000427355;ENST00000351698	.	.	.	5.32	0.653	0.17828	.	0.465560	0.26546	N	0.023773	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-9.3083	8.3478	0.32284	0.0:0.2119:0.3143:0.4737	.	.	.	.	X	111;142	.	ENSP00000345719:S142X	S	-	2	0	TOR1A	131624700	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.543000	0.23237	0.566000	0.29273	-0.314000	0.08810	TCA		0.463	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054611.1		NM_000113		14	67	0	0	0	1	0	14	67		
LAMC3	10319	broad.mit.edu	37	9	133948211	133948211	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:133948211C>T	ENST00000361069.4	+	19	3539	c.3406C>T	c.(3406-3408)Ctc>Ttc	p.L1136F	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1136	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGCTGCCATTCTCGCGTCTCT	0.627																																						uc004caa.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(3406-3408)CTC>TTC		laminin, gamma 3 precursor							30.0	33.0	32.0					9																	133948211		2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133948211C>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.3406C>T	9.37:g.133948211C>T	ENSP00000354360:p.Leu1136Phe						p.L1136F	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	19	3504	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1136			Domain II and I.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.3406C>T	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810086	0.50421	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.33438	1.41	4.97	2.12	0.27331	.	0.221473	0.38837	N	0.001554	T	0.48660	0.1512	M	0.70595	2.14	0.09310	N	1	D	0.76494	0.999	D	0.77004	0.989	T	0.32587	-0.9901	10	0.72032	D	0.01	.	7.7304	0.28783	0.0:0.7333:0.0:0.2667	.	1136	Q9Y6N6	LAMC3_HUMAN	F	1136	ENSP00000354360:L1136F	ENSP00000347156:L1136F	L	+	1	0	LAMC3	132938032	0.687000	0.27671	0.001000	0.08648	0.017000	0.09413	1.947000	0.40293	0.242000	0.21303	0.555000	0.69702	CTC		0.627	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3		NM_006059		5	18	0	0	0	1	0	5	18		
GTF3C4	9329	broad.mit.edu	37	9	135553634	135553634	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:135553634G>C	ENST00000372146.4	+	2	1192	c.628G>C	c.(628-630)Gag>Cag	p.E210Q	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	210					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		TGACCTGACTGAGATCTATGG	0.507																																					Pancreas(142;417 1875 11086 31973 47667)	uc010mzv.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(628-630)GAG>CAG		general transcription factor IIIC 4							54.0	56.0	55.0					9																	135553634		2203	4300	6503	SO:0001583	missense	9329				transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	g.chr9:135553634G>C	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.628G>C	9.37:g.135553634G>C	ENSP00000361219:p.Glu210Gln					GTF3C4_uc010mzw.2_RNA	p.E210Q	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	2	886	+			210					Q5VZJ7	Missense_Mutation	SNP	ENST00000372146.4	37	c.628G>C	CCDS6953.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289278	0.59976	.	.	ENSG00000125484	ENST00000372146	T	0.48201	0.82	5.72	5.72	0.89469	Transcription factor IIIC, 90kDa subunit, N-terminal (1);	0.100454	0.64402	D	0.000002	T	0.43765	0.1262	N	0.24115	0.695	0.45930	D	0.998763	P	0.39094	0.659	B	0.42882	0.401	T	0.44997	-0.9291	10	0.72032	D	0.01	-35.5919	18.4551	0.90717	0.0:0.0:1.0:0.0	.	210	Q9UKN8	TF3C4_HUMAN	Q	210	ENSP00000361219:E210Q	ENSP00000361219:E210Q	E	+	1	0	GTF3C4	134543455	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	4.939000	0.63526	2.709000	0.92574	0.561000	0.74099	GAG		0.507	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1				19	66	0	0	0	1	0	19	66		
TSC1	7248	broad.mit.edu	37	9	135778026	135778026	+	Missense_Mutation	SNP	C	C	T	rs118203683		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:135778026C>T	ENST00000298552.3	-	18	2578	c.2357G>A	c.(2356-2358)cGa>cAa	p.R786Q	TSC1_ENST00000440111.2_Missense_Mutation_p.R786Q|TSC1_ENST00000545250.1_Missense_Mutation_p.R735Q	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	786					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GAATTCCTCTCGGTCATGCTG	0.527			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004cca.2		NaN	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	D|Mis|N|F|S	tuberous sclerosis 1 gene			"""E, O"""		hamartoma|renal cell			1	Unknown(1)	p.?(1)	bone(1)	lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14						c.(2356-2358)CGA>CAA		tuberous sclerosis 1 protein isoform 1							238.0	211.0	220.0					9																	135778026		2203	4300	6503	SO:0001583	missense	7248	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135778026C>T	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2357G>A	9.37:g.135778026C>T	ENSP00000298552:p.Arg786Gln		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1620	TSC1_uc004ccb.3_Missense_Mutation_p.R785Q|TSC1_uc011mcq.1_Missense_Mutation_p.R735Q|TSC1_uc011mcr.1_Intron	p.R786Q	NM_000368	NP_000359	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	18	2591	-			786			Potential.		B7Z897|Q5VVN5	Missense_Mutation	SNP	ENST00000298552.3	37	c.2357G>A	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	C	33	5.248469	0.95305	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;T	0.82167	-1.58;-1.58;-1.4	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.85396	0.5687	N	0.20986	0.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.83316	-0.0020	10	0.26408	T	0.33	-10.967	18.4925	0.90853	0.0:1.0:0.0:0.0	.	735;786	B7Z897;Q92574	.;TSC1_HUMAN	Q	786;786;735	ENSP00000298552:R786Q;ENSP00000394524:R786Q;ENSP00000444017:R735Q	ENSP00000298552:R786Q	R	-	2	0	TSC1	134767847	1.000000	0.71417	0.982000	0.44146	0.981000	0.71138	4.560000	0.60802	2.607000	0.88179	0.561000	0.74099	CGA		0.527	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1				39	141	0	0	0	1	0	39	141		
RALGDS	5900	broad.mit.edu	37	9	136004577	136004577	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:136004577G>C	ENST00000393157.3	-	1	211	c.129C>G	c.(127-129)ctC>ctG	p.L43L	RALGDS_ENST00000542690.1_Intron|RALGDS_ENST00000372062.3_Intron|RALGDS_ENST00000393160.3_Intron	NM_001271775.1	NP_001258704.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	0					neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TCGGGCTTTGGAGAGCGGCAC	0.687			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)	uc004ccr.2		NaN		Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		PMBL|Hodgkin Lymphona|		0				large_intestine(1)|lung(1)|ovary(1)	3						c.(127-129)CTC>CTG		ral guanine nucleotide dissociation stimulator							21.0	21.0	21.0					9																	136004577		876	1991	2867	SO:0001819	synonymous_variant	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:136004577G>C	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000393157.3:c.129C>G	9.37:g.136004577G>C						RALGDS_uc011mcv.1_Intron|RALGDS_uc004ccs.2_Intron|RALGDS_uc011mcw.1_Intron	p.L43L	NM_001042368	NP_001035827	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	1	212	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Silent	SNP	ENST00000393157.3	37	c.129C>G																																																																																					0.687	RALGDS-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_006266		4	19	0	0	0	1	0	4	19		
MED22	6837	broad.mit.edu	37	9	136213407	136213407	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:136213407G>C	ENST00000491289.1	-	2	692	c.111C>G	c.(109-111)atC>atG	p.I37M	SNORD24_ENST00000383884.1_RNA|MED22_ENST00000371999.1_Missense_Mutation_p.I37M|MED22_ENST00000476080.1_Missense_Mutation_p.I37M|MED22_ENST00000344469.5_Missense_Mutation_p.I37M|MED22_ENST00000471524.1_Intron|RPL7A_ENST00000323345.6_5'Flank|MED22_ENST00000343730.5_Missense_Mutation_p.I37M|RPL7A_ENST00000315731.4_5'Flank			Q15528	MED22_HUMAN	mediator complex subunit 22	37						cytoplasm (GO:0005737)|mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		TGGCGGTCTTGATGATCTCGG	0.597																																						uc004cdc.2		NaN																	0				ovary(1)	1						c.(109-111)ATC>ATG		mediator complex subunit 22 isoform b							166.0	143.0	151.0					9																	136213407		2203	4300	6503	SO:0001583	missense	6837				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding	g.chr9:136213407G>C		CCDS6963.1, CCDS6964.1	9q34.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000148297	ENSG00000148297			11477	protein-coding gene	gene with protein product		185641	"""surfeit 5"""	SURF5		8499913, 15175163	Standard	NM_133640		Approved	Med24	uc004cdc.3	Q15528	OTTHUMG00000020869	ENST00000491289.1:c.111C>G	9.37:g.136213407G>C	ENSP00000420393:p.Ile37Met					MED22_uc004cdd.2_Missense_Mutation_p.I37M|RPL7A_uc004cde.1_5'Flank|SNORD24_uc010nah.2_5'Flank|RPL7A_uc004cdf.1_5'Flank	p.I37M	NM_133640	NP_598395	Q15528	MED22_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)	2	345	-			37					B3KW83|B3KWX4|O76072|Q5T8U0	Missense_Mutation	SNP	ENST00000491289.1	37	c.111C>G	CCDS6963.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696171	0.68386	.	.	ENSG00000148297	ENST00000491289;ENST00000486395;ENST00000343730;ENST00000344469;ENST00000476080;ENST00000371999;ENST00000446777;ENST00000494177;ENST00000457204	.	.	.	5.01	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.76793	0.4037	M	0.83603	2.65	0.58432	D	0.999998	P;D	0.53619	0.954;0.961	P;D	0.65573	0.824;0.936	T	0.79472	-0.1789	9	0.87932	D	0	-1.2979	9.5156	0.39104	0.0873:0.0:0.739:0.1737	.	37;37	Q15528-2;Q15528	.;MED22_HUMAN	M	37	.	ENSP00000342343:I37M	I	-	3	3	MED22	135203228	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.705000	0.37867	2.322000	0.78497	0.491000	0.48974	ATC		0.597	MED22-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054898.2		NM_133640		33	80	0	0	0	1	0	33	80		
GLT6D1	360203	broad.mit.edu	37	9	138516451	138516451	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:138516451C>T	ENST00000371763.1	-	5	576	c.323G>A	c.(322-324)cGa>cAa	p.R108Q		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	108					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		GAAGATCACTCGGTAGCCTGT	0.493																																						uc010nbd.1		NaN																	0				ovary(1)	1						c.(322-324)CGA>CAA		glycosyltransferase 6 domain containing 1							57.0	55.0	56.0					9																	138516451		1978	4146	6124	SO:0001583	missense	360203				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	g.chr9:138516451C>T	AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"""Glycosyltransferase family 6 domain containing"""	23671	protein-coding gene	gene with protein product		613699	"""galactosyltransferase family 6 domain containing 1"""	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.323G>A	9.37:g.138516451C>T	ENSP00000360829:p.Arg108Gln						p.R108Q	NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)	5	577	-		Myeloproliferative disorder(178;0.0821)	108			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000371763.1	37	c.323G>A	CCDS43900.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637693	0.47049	.	.	ENSG00000204007	ENST00000371763	T	0.01295	5.04	3.49	-3.5	0.04710	.	1.576380	0.03875	N	0.276212	T	0.04861	0.0131	M	0.74258	2.255	0.09310	N	1	D	0.67145	0.996	P	0.52031	0.688	T	0.40869	-0.9540	10	0.56958	D	0.05	-14.8369	10.9449	0.47296	0.0:0.2369:0.0:0.7631	.	108	Q7Z4J2	GL6D1_HUMAN	Q	108	ENSP00000360829:R108Q	ENSP00000360829:R108Q	R	-	2	0	GLT6D1	137656272	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.030000	0.12308	-0.814000	0.04352	0.655000	0.94253	CGA		0.493	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2		NM_182974		21	63	0	0	0	1	0	21	63		
NOTCH1	4851	broad.mit.edu	37	9	139396271	139396271	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:139396271G>A	ENST00000277541.6	-	30	5642	c.5567C>T	c.(5566-5568)tCt>tTt	p.S1856F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1856					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCATGGCAGACATGCGCAG	0.652			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NaN		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(5566-5568)TCT>TTT		notch1 preproprotein							26.0	31.0	30.0					9																	139396271		2099	4229	6328	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139396271G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5567C>T	9.37:g.139396271G>A	ENSP00000277541:p.Ser1856Phe	HNSCC(8;0.001)					p.S1856F	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	30	5567	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1856			Cytoplasmic (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.5567C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052154	0.55218	.	.	ENSG00000148400	ENST00000277541	D	0.81996	-1.56	4.24	4.24	0.50183	.	0.124573	0.56097	D	0.000027	D	0.84875	0.5569	M	0.63843	1.955	0.49130	D	0.999751	P	0.35821	0.523	B	0.43728	0.429	D	0.87223	0.2255	10	0.87932	D	0	.	15.9569	0.79893	0.0:0.0:1.0:0.0	.	1856	P46531	NOTC1_HUMAN	F	1856	ENSP00000277541:S1856F	ENSP00000277541:S1856F	S	-	2	0	NOTCH1	138516092	1.000000	0.71417	0.345000	0.25642	0.301000	0.27625	9.476000	0.97823	2.037000	0.60232	0.492000	0.49549	TCT		0.652	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1		NM_017617		14	47	0	0	0	1	0	14	47		
ABCA2	20	broad.mit.edu	37	9	139906347	139906347	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:139906347G>A	ENST00000371605.3	-	34	5628	c.5481C>T	c.(5479-5481)gtC>gtT	p.V1827V	ABCA2_ENST00000265662.5_Silent_p.V1828V|ABCA2_ENST00000341511.6_Silent_p.V1828V			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1827					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGCAGCCGCTGACAAACTGCA	0.627																																						uc011mem.1		NaN																	0					0						c.(5479-5481)GTC>GTT		ATP-binding cassette, sub-family A, member 2							39.0	47.0	45.0					9																	139906347		2185	4276	6461	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139906347G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.5481C>T	9.37:g.139906347G>A						ABCA2_uc011mel.1_Silent_p.V1828V|ABCA2_uc004ckl.1_Silent_p.V1758V|ABCA2_uc004ckm.1_Silent_p.V1858V	p.V1827V	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	34	5629	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1827					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.5481C>T																																																																																					0.627	ABCA2-202	KNOWN	basic	protein_coding	protein_coding			NM_001606		8	25	0	0	0	1	0	8	25		
GRIN1	2902	broad.mit.edu	37	9	140051410	140051410	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:140051410G>C	ENST00000371561.3	+	6	1986	c.889G>C	c.(889-891)Gag>Cag	p.E297Q	GRIN1_ENST00000371546.4_Missense_Mutation_p.E318Q|GRIN1_ENST00000371553.3_Missense_Mutation_p.E318Q|GRIN1_ENST00000350902.5_Missense_Mutation_p.E297Q|GRIN1_ENST00000371559.4_Missense_Mutation_p.E297Q|GRIN1_ENST00000315048.3_Missense_Mutation_p.E297Q|GRIN1_ENST00000371550.4_Missense_Mutation_p.E297Q|GRIN1_ENST00000371560.3_Missense_Mutation_p.E318Q|GRIN1_ENST00000371555.4_Missense_Mutation_p.E318Q|GRIN1_ENST00000471122.1_3'UTR	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	297					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGAGCTCCTCGAGAAGGAGAA	0.682																																					NSCLC(113;717 1653 2089 20474 37618)	uc004clk.2		NaN																	0				skin(1)	1						c.(889-891)GAG>CAG		NMDA receptor 1 isoform NR1-3 precursor	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						28.0	30.0	29.0					9																	140051410		2196	4296	6492	SO:0001583	missense	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140051410G>C		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.889G>C	9.37:g.140051410G>C	ENSP00000360616:p.Glu297Gln					GRIN1_uc004cli.1_5'UTR|GRIN1_uc004clj.1_Missense_Mutation_p.E294Q|GRIN1_uc004cll.2_Missense_Mutation_p.E297Q|GRIN1_uc004clm.2_Missense_Mutation_p.E297Q|GRIN1_uc004cln.2_Missense_Mutation_p.E315Q|GRIN1_uc004clo.2_Missense_Mutation_p.E315Q	p.E297Q	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	6	1219	+	all_cancers(76;0.0926)		297			Extracellular (Potential).		A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Missense_Mutation	SNP	ENST00000371561.3	37	c.889G>C	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833919	0.71373	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	D;D;D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	4.65	4.65	0.58169	Extracellular ligand-binding receptor (1);	0.112924	0.64402	D	0.000017	T	0.75250	0.3824	L	0.27053	0.805	0.80722	D	1	B;B;B;B;B;B	0.18461	0.028;0.015;0.005;0.005;0.004;0.003	B;B;B;B;B;B	0.23716	0.048;0.026;0.007;0.007;0.008;0.007	T	0.71020	-0.4713	10	0.35671	T	0.21	.	16.0697	0.80914	0.0:0.0:1.0:0.0	.	318;318;297;297;297;297	Q5VSF4;Q5VSF5;Q05586-2;Q05586-3;Q05586;A2AVK2	.;.;.;.;NMDZ1_HUMAN;.	Q	297;297;297;297;318;318;318;297;318	ENSP00000360616:E297Q;ENSP00000316696:E297Q;ENSP00000316915:E297Q;ENSP00000360605:E297Q;ENSP00000360601:E318Q;ENSP00000360610:E318Q;ENSP00000360608:E318Q;ENSP00000360614:E297Q;ENSP00000360615:E318Q	ENSP00000316696:E297Q	E	+	1	0	GRIN1	139171231	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.192000	0.94947	2.140000	0.66376	0.491000	0.48974	GAG		0.682	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3		NM_007327		13	26	0	0	0	1	0	13	26		
ANAPC2	29882	broad.mit.edu	37	9	140075251	140075251	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:140075251G>A	ENST00000323927.2	-	8	1603	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	533					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GCTCGGGGCTGAAGCTGAACT	0.662																																						uc004clr.1		NaN																	0				ovary(1)	1						c.(1597-1599)TTC>TTT		anaphase-promoting complex subunit 2							49.0	44.0	46.0					9																	140075251		2203	4300	6503	SO:0001819	synonymous_variant	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140075251G>A	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1599C>T	9.37:g.140075251G>A						ANAPC2_uc004clq.1_Silent_p.F389F	p.F533F	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	8	1672	-	all_cancers(76;0.0926)		533					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Silent	SNP	ENST00000323927.2	37	c.1599C>T	CCDS7033.1																																																																																				0.662	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1		NM_013366		25	67	0	0	0	1	0	25	67		
SLC34A3	142680	broad.mit.edu	37	9	140130619	140130619	+	Silent	SNP	C	C	T	rs139559169		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:140130619C>T	ENST00000538474.1	+	13	1775	c.1551C>T	c.(1549-1551)gtC>gtT	p.V517V	SLC34A3_ENST00000361134.2_Silent_p.V517V	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	517					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGGCCGCTGTCGGGGGTCCCC	0.726											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004cmf.1		NaN																	0					0						c.(1549-1551)GTC>GTT		solute carrier family 34 (sodium phosphate),		C	,,	1,4219		0,1,2109	16.0	14.0	14.0		1551,1551,1551	-8.5	0.0	9	dbSNP_134	14	0,8336		0,0,4168	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC34A3	NM_001177316.1,NM_001177317.1,NM_080877.2	,,	0,1,6277	TT,TC,CC		0.0,0.0237,0.0080	,,	517/600,517/600,517/600	140130619	1,12555	2110	4168	6278	SO:0001819	synonymous_variant	142680				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140130619C>T	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1551C>T	9.37:g.140130619C>T			OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1654	SLC34A3_uc011met.1_Silent_p.V517V	p.V517V	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	13	1737	+	all_cancers(76;0.0926)		517			Helical; Name=M8; (Potential).		A2BFA1	Silent	SNP	ENST00000538474.1	37	c.1551C>T	CCDS7038.1																																																																																				0.726	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1		NM_080877		7	31	0	0	0	1	0	7	31		
PNPLA7	375775	broad.mit.edu	37	9	140437939	140437939	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:140437939C>G	ENST00000277531.4	-	5	562	c.376G>C	c.(376-378)Gac>Cac	p.D126H	PNPLA7_ENST00000406427.1_Missense_Mutation_p.D151H|AL365502.1_ENST00000580317.1_RNA	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	126					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TTCTTCACGTCAAACTCCGTG	0.597																																						uc004cnf.2		NaN																	0				skin(1)	1						c.(376-378)GAC>CAC		patatin-like phospholipase domain containing 7							56.0	60.0	58.0					9																	140437939		2203	4300	6503	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140437939C>G	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.376G>C	9.37:g.140437939C>G	ENSP00000277531:p.Asp126His					PNPLA7_uc010ncj.1_Missense_Mutation_p.D151H	p.D126H	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	5	713	-	all_cancers(76;0.126)		126					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.376G>C	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426357	0.83667	.	.	ENSG00000130653	ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090;ENST00000371450	T;T;T	0.61859	0.07;0.07;0.08	4.19	4.19	0.49359	.	0.112115	0.64402	D	0.000016	T	0.75170	0.3813	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.971	T	0.79838	-0.1634	10	0.87932	D	0	-20.4487	15.8635	0.79043	0.0:1.0:0.0:0.0	.	151;126	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	H	126;151;126;117;151	ENSP00000277531:D126H;ENSP00000384610:D151H;ENSP00000400582:D117H	ENSP00000277531:D126H	D	-	1	0	PNPLA7	139557760	1.000000	0.71417	0.887000	0.34795	0.926000	0.56050	7.514000	0.81750	2.042000	0.60477	0.563000	0.77884	GAC		0.597	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1		NM_152286		43	106	0	0	0	1	0	43	106		
CSF2RA	1438	broad.mit.edu	37	X	1419439	1419439	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:1419439G>C	ENST00000381524.3	+	10	1052	c.866G>C	c.(865-867)aGa>aCa	p.R289T	CSF2RA_ENST00000361536.3_Missense_Mutation_p.R289T|CSF2RA_ENST00000417535.2_Missense_Mutation_p.R289T|CSF2RA_ENST00000381500.1_Missense_Mutation_p.R289T|CSF2RA_ENST00000381529.3_Missense_Mutation_p.R289T|CSF2RA_ENST00000355432.3_Missense_Mutation_p.R289T|CSF2RA_ENST00000381509.3_Missense_Mutation_p.R289T|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000494969.2_Intron|RNA5SP498_ENST00000411342.1_RNA|CSF2RA_ENST00000501036.2_Missense_Mutation_p.R156T|CSF2RA_ENST00000432318.2_Missense_Mutation_p.R289T|CSF2RA_ENST00000355805.2_Intron			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	289	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TCTGAGCCCAGAGCAAAACAC	0.448																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	uc010nct.2		NaN																	0				ovary(2)	2						c.(865-867)AGA>ACA		colony stimulating factor 2 receptor alpha chain	Sargramostim(DB00020)						136.0	131.0	132.0					X																	1419439		2203	4296	6499	SO:0001583	missense	1438					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1419439G>C	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.866G>C	X.37:g.1419439G>C	ENSP00000370935:p.Arg289Thr					CSF2RA_uc011mhb.1_Missense_Mutation_p.R289T|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.R289T|CSF2RA_uc004cpo.2_Missense_Mutation_p.R289T|CSF2RA_uc010ncu.2_Intron|CSF2RA_uc011mhc.1_Missense_Mutation_p.R156T|CSF2RA_uc004cpp.2_Missense_Mutation_p.R289T|CSF2RA_uc010ncv.2_Missense_Mutation_p.R289T|CSF2RA_uc004cpr.2_Missense_Mutation_p.R289T	p.R289T	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN			11	1188	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	289			Extracellular (Potential).		A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.866G>C	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	6.325	0.428076	0.11987	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000501036;ENST00000381524;ENST00000381509;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;D;D;D;D;D	0.95853	-3.83;-3.83;-2.03;-2.03;-3.83;-3.83;-2.03;-3.83;-2.03	0.798	0.798	0.18660	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.763029	0.10338	U	0.686659	D	0.88411	0.6429	.	.	.	0.09310	N	1	P;P;P;P;P	0.39624	0.681;0.493;0.681;0.627;0.493	B;B;B;B;B	0.38562	0.276;0.155;0.276;0.155;0.155	T	0.80493	-0.1358	9	0.15066	T	0.55	.	4.9167	0.13849	0.0:0.0:1.0:0.0	.	289;289;289;289;289	P15509-2;A7J003;P15509-3;P15509-5;P15509	.;.;.;.;CSF2R_HUMAN	T	289;289;289;156;289;289;289;289;289	ENSP00000370940:R289T;ENSP00000416437:R289T;ENSP00000354836:R289T;ENSP00000440491:R156T;ENSP00000370935:R289T;ENSP00000370920:R289T;ENSP00000347606:R289T;ENSP00000394227:R289T;ENSP00000370911:R289T	ENSP00000347606:R289T	R	+	2	0	CSF2RA	1379439	0.016000	0.18221	0.051000	0.19133	0.114000	0.19823	0.260000	0.18424	0.745000	0.32763	0.100000	0.15512	AGA		0.448	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2				29	101	0	0	0	1	0	29	101		
IL3RA	3563	broad.mit.edu	37	X	1499937	1499937	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:1499937C>G	ENST00000331035.4	+	11	1351	c.1002C>G	c.(1000-1002)ctC>ctG	p.L334L	IL3RA_ENST00000381469.2_Silent_p.L256L	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	334					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGCAGAGACTCTTTCCCCGCA	0.537																																						uc004cps.2		NaN																	0				skin(2)|lung(1)	3						c.(1000-1002)CTC>CTG		interleukin 3 receptor, alpha precursor	Sargramostim(DB00020)						429.0	410.0	416.0					X																	1499937		2203	4296	6499	SO:0001819	synonymous_variant	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1499937C>G	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.1002C>G	X.37:g.1499937C>G						IL3RA_uc011mhd.1_Silent_p.L256L	p.L334L	NM_002183	NP_002174	P26951	IL3RA_HUMAN			11	1351	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	334			Cytoplasmic (Potential).|Box 1 motif.		A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Silent	SNP	ENST00000331035.4	37	c.1002C>G	CCDS14113.1																																																																																				0.537	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3				95	279	0	0	0	1	0	95	279		
AKAP17A	8227	broad.mit.edu	37	X	1719909	1719909	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:1719909G>A	ENST00000313871.3	+	5	1706	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K		NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	504					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GGCCCACCCAGAGGCCGACGG	0.721																																						uc004cqa.2		NaN																	0					0						c.(1510-1512)GAG>AAG		DNA segment on chromosome X and Y (unique) 155							17.0	19.0	19.0					X																	1719909		2199	4287	6486	SO:0001583	missense	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1719909G>A	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.1510G>A	X.37:g.1719909G>A	ENSP00000324827:p.Glu504Lys					SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_Intron	p.E504K	NM_005088	NP_005079	Q02040	AK17A_HUMAN			5	1706	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	504					Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	c.1510G>A	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	g	13.37	2.218170	0.39201	.	.	ENSG00000197976	ENST00000313871	T	0.51817	0.69	1.56	-1.55	0.08558	.	0.484788	0.15009	U	0.285712	T	0.30603	0.0770	.	.	.	0.09310	N	0.999999	P	0.47253	0.892	B	0.44085	0.44	T	0.24404	-1.0161	9	0.21540	T	0.41	.	4.3656	0.11223	0.2798:0.1976:0.5226:0.0	.	504	Q02040	AK17A_HUMAN	K	504	ENSP00000324827:E504K	ENSP00000324827:E504K	E	+	1	0	AKAP17A	1679909	0.000000	0.05858	0.003000	0.11579	0.114000	0.19823	0.463000	0.21972	-0.438000	0.07232	0.367000	0.22151	GAG		0.721	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2		NM_005088		7	32	0	0	0	1	0	7	32		
ZBED1	9189	broad.mit.edu	37	X	2406874	2406874	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:2406874G>A	ENST00000381223.4	-	2	2090	c.1887C>T	c.(1885-1887)gtC>gtT	p.V629V	ZBED1_ENST00000515319.1_5'UTR|ZBED1_ENST00000381218.3_Silent_p.V629V|ZBED1_ENST00000381222.2_Silent_p.V629V|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	629					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCTTGGCGCTGACCACGTTGG	0.677																																						uc004cqg.2		NaN																	0					0						c.(1885-1887)GTC>GTT		zinc finger, BED-type containing 1							107.0	113.0	111.0					X																	2406874		2203	4296	6499	SO:0001819	synonymous_variant	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2406874G>A	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.1887C>T	X.37:g.2406874G>A						DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Silent_p.V629V	p.V629V	NM_004729	NP_004720	O96006	ZBED1_HUMAN			2	2088	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	629					Q96BY4	Silent	SNP	ENST00000381223.4	37	c.1887C>T	CCDS14118.1																																																																																				0.677	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3		NM_004729		86	217	0	0	0	1	0	86	217		
ARHGAP6	395	broad.mit.edu	37	X	11157176	11157176	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:11157176C>G	ENST00000337414.4	-	13	3604	c.2732G>C	c.(2731-2733)gGa>gCa	p.G911A	ARHGAP6_ENST00000303025.6_Missense_Mutation_p.G708A|ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.G708A	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	911					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TGCTTGGCCTCCCTGGTCCGT	0.716																																						uc004cup.1		NaN																	0				urinary_tract(1)|lung(1)	2						c.(2731-2733)GGA>GCA		Rho GTPase activating protein 6 isoform 1							18.0	11.0	14.0					X																	11157176		2188	4270	6458	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11157176C>G	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2732G>C	X.37:g.11157176C>G	ENSP00000338967:p.Gly911Ala					ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cum.1_Missense_Mutation_p.G708A|ARHGAP6_uc004cun.1_Missense_Mutation_p.G731A	p.G911A	NM_013427	NP_038286	O43182	RHG06_HUMAN			13	3605	-			911					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.2732G>C	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.434016	0.25813	.	.	ENSG00000047648	ENST00000380736;ENST00000303025;ENST00000337414	T;T;T	0.22336	1.99;1.99;1.96	4.89	1.64	0.23874	.	0.263954	0.26414	N	0.024510	T	0.15696	0.0378	L	0.41236	1.265	0.09310	N	0.999997	B;B	0.12013	0.005;0.005	B;B	0.08055	0.003;0.003	T	0.21759	-1.0236	10	0.26408	T	0.33	.	10.7966	0.46464	0.0:0.7403:0.0:0.2597	.	911;911	O43182;A8KAL3	RHG06_HUMAN;.	A	708;708;911	ENSP00000370112:G708A;ENSP00000302312:G708A;ENSP00000338967:G911A	ENSP00000302312:G708A	G	-	2	0	ARHGAP6	11067097	0.069000	0.21087	0.007000	0.13788	0.005000	0.04900	0.874000	0.28065	0.327000	0.23409	-0.332000	0.08345	GGA		0.716	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2		NM_013427		18	6	0	0	0	1	0	18	6		
ASB11	140456	broad.mit.edu	37	X	15311338	15311338	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:15311338C>G	ENST00000480796.1	-	4	524	c.474G>C	c.(472-474)caG>caC	p.Q158H	ASB11_ENST00000537676.1_Missense_Mutation_p.Q137H|ASB11_ENST00000344384.4_Missense_Mutation_p.Q137H|ASB11_ENST00000380470.3_Missense_Mutation_p.Q141H			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase	158					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					GCACCTCCAACTGGGCCTTGG	0.552																																						uc004cwp.1		NaN																	0				breast(2)|skin(1)	3						c.(472-474)CAG>CAC		ankyrin repeat and SOCS box-containing protein							189.0	151.0	164.0					X																	15311338		2203	4300	6503	SO:0001583	missense	140456				intracellular signal transduction			g.chrX:15311338C>G	AF425642	CCDS14164.1, CCDS35209.1, CCDS56596.1	Xp22.31	2014-02-10	2014-02-10		ENSG00000165192	ENSG00000165192		"""Ankyrin repeat domain containing"""	17186	protein-coding gene	gene with protein product		300626	"""ankyrin repeat and SOCS box-containing 11"", ""ankyrin repeat and SOCS box containing 11"""			24337577	Standard	NM_080873		Approved	DKFZp779E2460	uc004cwp.2	Q8WXH4	OTTHUMG00000021173	ENST00000480796.1:c.474G>C	X.37:g.15311338C>G	ENSP00000417914:p.Gln158His					ASB11_uc004cwo.1_Missense_Mutation_p.Q137H|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Missense_Mutation_p.Q141H	p.Q158H	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN			4	474	-	Hepatocellular(33;0.183)		158			ANK 3.		E9PEN1|Q3SYC4|Q7Z667	Missense_Mutation	SNP	ENST00000480796.1	37	c.474G>C	CCDS14164.1	.	.	.	.	.	.	.	.	.	.	c	5.540	0.284545	0.10513	.	.	ENSG00000165192	ENST00000537676;ENST00000380470;ENST00000344384;ENST00000480796	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.35	4.46	0.54185	Ankyrin repeat-containing domain (4);	0.277766	0.31772	N	0.007092	T	0.39118	0.1066	N	0.17278	0.47	0.34699	D	0.726519	B;P;D	0.54964	0.002;0.845;0.969	B;B;P	0.47891	0.003;0.368;0.56	T	0.53315	-0.8456	10	0.41790	T	0.15	-3.0841	14.2937	0.66298	0.0:0.8545:0.1455:0.0	.	141;158;137	Q7Z667;Q8WXH4;E9PEN1	.;ASB11_HUMAN;.	H	137;141;137;158	ENSP00000445465:Q137H;ENSP00000369837:Q141H;ENSP00000343408:Q137H;ENSP00000417914:Q158H	ENSP00000343408:Q137H	Q	-	3	2	ASB11	15221259	0.996000	0.38824	0.894000	0.35097	0.083000	0.17756	1.177000	0.31969	1.114000	0.41781	0.597000	0.82753	CAG		0.552	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055852.2				58	65	0	0	0	1	0	58	65		
SH3KBP1	30011	broad.mit.edu	37	X	19560286	19560286	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:19560286G>A	ENST00000397821.3	-	16	1939	c.1649C>T	c.(1648-1650)cCg>cTg	p.P550L	SH3KBP1_ENST00000541422.1_Missense_Mutation_p.P289L|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.P312L|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.P513L	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	550					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CGGCTTGGGCGGCAGGGATGC	0.632																																						uc004czm.2		NaN																	0					0						c.(1648-1650)CCG>CTG		SH3-domain kinase binding protein 1 isoform a							29.0	30.0	30.0					X																	19560286		2203	4299	6502	SO:0001583	missense	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19560286G>A	AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1649C>T	X.37:g.19560286G>A	ENSP00000380921:p.Pro550Leu					SH3KBP1_uc011mje.1_Missense_Mutation_p.P289L|SH3KBP1_uc011mjf.1_Missense_Mutation_p.P312L|SH3KBP1_uc004czl.2_Missense_Mutation_p.P513L|SH3KBP1_uc010nfm.2_5'UTR	p.P550L	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN			16	1965	-			550					B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	ENST00000397821.3	37	c.1649C>T	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843373	0.32606	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000379716;ENST00000379698;ENST00000541422;ENST00000379726	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	5.54	4.67	0.58626	.	0.712617	0.14078	N	0.342917	T	0.53674	0.1811	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	0.992;1.0;1.0	P;D;D	0.63957	0.484;0.92;0.92	T	0.50482	-0.8823	10	0.66056	D	0.02	-3.053	15.8447	0.78879	0.0743:0.0:0.9257:0.0	.	312;550;513	Q5JPT4;Q96B97;Q5JPT5	.;SH3K1_HUMAN;.	L	535;550;312;513;289;530	ENSP00000380921:P550L;ENSP00000369039:P312L;ENSP00000369020:P513L;ENSP00000442499:P289L;ENSP00000369049:P530L	ENSP00000369020:P513L	P	-	2	0	SH3KBP1	19470207	1.000000	0.71417	0.484000	0.27391	0.153000	0.21895	5.201000	0.65163	0.535000	0.28714	-1.225000	0.01585	CCG		0.632	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1		NM_031892		31	37	0	0	0	1	0	31	37		
SH3KBP1	30011	broad.mit.edu	37	X	19713821	19713821	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:19713821C>G	ENST00000397821.3	-	5	719	c.429G>C	c.(427-429)aaG>aaC	p.K143N	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.K143N|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.K106N	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	143	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						ACATTCCAGTCTTCCCGTTGA	0.483																																						uc004czm.2		NaN																	0					0						c.(427-429)AAG>AAC		SH3-domain kinase binding protein 1 isoform a							148.0	120.0	129.0					X																	19713821		2203	4300	6503	SO:0001583	missense	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19713821C>G	AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.429G>C	X.37:g.19713821C>G	ENSP00000380921:p.Lys143Asn					SH3KBP1_uc004czl.2_Missense_Mutation_p.K106N	p.K143N	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN			5	745	-			143			SH3 2.		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	ENST00000397821.3	37	c.429G>C	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714954	0.68844	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000397804;ENST00000379698;ENST00000379726;ENST00000379697;ENST00000432234;ENST00000431164	T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71	5.94	3.25	0.37280	Src homology-3 domain (3);Variant SH3 (1);	1.004380	0.08004	N	0.989337	T	0.69771	0.3148	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.57608	-0.7782	10	0.87932	D	0	-17.5306	10.6332	0.45549	0.0:0.7882:0.0:0.2118	.	143;106	Q96B97;Q5JPT5	SH3K1_HUMAN;.	N	84;143;51;106;79;143;90;51	ENSP00000380921:K143N;ENSP00000369020:K106N;ENSP00000369049:K79N;ENSP00000369019:K143N;ENSP00000388766:K90N;ENSP00000409292:K51N	ENSP00000369019:K143N	K	-	3	2	SH3KBP1	19623742	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.751000	0.38339	0.266000	0.21894	0.529000	0.55759	AAG		0.483	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1		NM_031892		31	37	0	0	0	1	0	31	37		
FAM47C	442444	broad.mit.edu	37	X	37027545	37027545	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:37027545C>G	ENST00000358047.3	+	1	1114	c.1062C>G	c.(1060-1062)ctC>ctG	p.L354L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	354										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGTCCCATCTCTGCCCGGAAC	0.627																																						uc004ddl.1		NaN																	0				ovary(3)	3						c.(1060-1062)CTC>CTG		hypothetical protein LOC442444							79.0	75.0	76.0					X																	37027545		2202	4300	6502	SO:0001819	synonymous_variant	442444							g.chrX:37027545C>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1062C>G	X.37:g.37027545C>G							p.L354L	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	1076	+			354					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.1062C>G	CCDS35227.1																																																																																				0.627	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1		NM_001013736		73	50	0	0	0	1	0	73	50		
TSPAN7	7102	broad.mit.edu	37	X	38525537	38525537	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:38525537C>T	ENST00000378482.2	+	2	421	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	TSPAN7_ENST00000488893.1_3'UTR|TSPAN7_ENST00000422612.2_Missense_Mutation_p.R108C|TSPAN7_ENST00000545599.1_Missense_Mutation_p.R56C|TM4SF2_ENST00000465127.1_Missense_Mutation_p.R112C|TSPAN7_ENST00000286824.6_Missense_Mutation_p.R99C	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	82					viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)		p.R82C(1)|p.R77C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGCTACATGTCGTGGTAGCCC	0.418																																						uc004deg.3		NaN																	2	Substitution - Missense(2)		large_intestine(2)	ovary(1)	1						c.(244-246)CGT>TGT		tetraspanin 7							220.0	150.0	174.0					X																	38525537		2202	4300	6502	SO:0001583	missense	7102				interspecies interaction between organisms	integral to plasma membrane		g.chrX:38525537C>T	D29808	CCDS14248.1	Xp11.4	2013-02-14	2005-03-21	2005-03-21	ENSG00000156298	ENSG00000156298		"""CD molecules"", ""Tetraspanins"""	11854	protein-coding gene	gene with protein product		300096	"""transmembrane 4 superfamily member 2"", ""mental retardation, X-linked 58"""	MXS1, TM4SF2, MRX58		12070254	Standard	NM_004615		Approved	DXS1692E, TALLA-1, A15, CD231	uc004deg.4	P41732	OTTHUMG00000024090	ENST00000378482.2:c.244C>T	X.37:g.38525537C>T	ENSP00000367743:p.Arg82Cys					TSPAN7_uc011mkj.1_Missense_Mutation_p.R108C|TSPAN7_uc011mkk.1_Missense_Mutation_p.R99C|TSPAN7_uc004deh.2_5'UTR	p.R82C	NM_004615	NP_004606	P41732	TSN7_HUMAN			2	313	+			82			Cytoplasmic (Potential).		B2R5W7|D3DWB1|Q8WVG5|Q9UEY9	Missense_Mutation	SNP	ENST00000378482.2	37	c.244C>T	CCDS14248.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068799	0.76301	.	.	ENSG00000250349;ENSG00000156298;ENSG00000156298;ENSG00000156298;ENSG00000156298	ENST00000465127;ENST00000378482;ENST00000422612;ENST00000286824;ENST00000545599	T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45	5.96	5.96	0.96718	Tetraspanin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.92417	0.7593	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.982;0.985;0.969	D	0.93520	0.6860	9	.	.	.	.	19.3529	0.94398	0.0:1.0:0.0:0.0	.	99;108;82	B4DDG0;B4DEA5;P41732	.;.;TSN7_HUMAN	C	112;82;108;99;56	ENSP00000417050:R112C;ENSP00000367743:R82C;ENSP00000388954:R108C;ENSP00000286824:R99C;ENSP00000441540:R56C	.	R	+	1	0	RP5-972B16.2;TSPAN7	38410481	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	3.600000	0.54052	2.523000	0.85059	0.594000	0.82650	CGT		0.418	TSPAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356412.1				11	23	0	0	0	1	0	11	23		
CDK16	5127	broad.mit.edu	37	X	47082968	47082968	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:47082968G>A	ENST00000357227.4	+	2	436	c.12G>A	c.(10-12)atG>atA	p.M4I	CDK16_ENST00000457458.2_Missense_Mutation_p.M10I|CDK16_ENST00000518022.1_Missense_Mutation_p.M4I|CDK16_ENST00000276052.6_Missense_Mutation_p.M78I	NM_006201.4	NP_006192.1	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	4					exocytosis (GO:0006887)|growth hormone secretion (GO:0030252)|neuron projection development (GO:0031175)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|spermatogenesis (GO:0007283)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						TGGATCGGATGAAGAAGATCA	0.527																																						uc004dho.2		NaN																	0				lung(1)	1						c.(10-12)ATG>ATA		PCTAIRE protein kinase 1 isoform 1							103.0	69.0	81.0					X																	47082968		2203	4300	6503	SO:0001583	missense	5127						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chrX:47082968G>A		CCDS14276.1, CCDS48101.1, CCDS55408.1	Xp11	2011-11-08	2009-12-16	2009-12-16	ENSG00000102225	ENSG00000102225		"""Cyclin-dependent kinases"""	8749	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase"""	311550	"""PCTAIRE protein kinase 1"""	PCTK1		1437147, 19884882	Standard	NM_033018		Approved	PCTAIRE, PCTAIRE1, PCTGAIRE, FLJ16665	uc011mll.2	Q00536	OTTHUMG00000021438	ENST00000357227.4:c.12G>A	X.37:g.47082968G>A	ENSP00000349762:p.Met4Ile					CDK16_uc011mli.1_Missense_Mutation_p.M10I|CDK16_uc011mlj.1_Missense_Mutation_p.M4I|CDK16_uc011mlk.1_Missense_Mutation_p.M4I|CDK16_uc011mll.1_Missense_Mutation_p.M78I	p.M4I	NM_006201	NP_006192	Q00536	CDK16_HUMAN			2	408	+			4					A8K280|B7Z7C8|J3KN74|J3KQP7	Missense_Mutation	SNP	ENST00000357227.4	37	c.12G>A	CCDS14276.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705886	0.89018	.	.	ENSG00000102225	ENST00000457458;ENST00000522883;ENST00000357227;ENST00000519758;ENST00000520893;ENST00000540877;ENST00000540311;ENST00000517426;ENST00000518391;ENST00000518022;ENST00000276052	T;T;T;T;T;T	0.73897	-0.58;-0.57;-0.79;0.5;-0.57;-0.58	5.04	5.04	0.67666	.	0.115890	0.52532	D	0.000062	D	0.83431	0.5253	L	0.56280	1.765	0.50039	D	0.999843	D;B;B;D	0.62365	0.984;0.138;0.296;0.991	P;B;B;D	0.77004	0.792;0.074;0.041;0.989	D	0.85467	0.1170	10	0.87932	D	0	-9.6396	16.2878	0.82732	0.0:0.0:1.0:0.0	.	78;4;102;4	B7Z7C8;B7Z461;B7Z8T0;Q00536	.;.;.;CDK16_HUMAN	I	10;4;4;4;4;102;4;4;4;4;78	ENSP00000405798:M10I;ENSP00000349762:M4I;ENSP00000429985:M4I;ENSP00000429044:M4I;ENSP00000429751:M4I;ENSP00000276052:M78I	ENSP00000276052:M78I	M	+	3	0	CDK16	46967912	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.362000	0.73077	2.097000	0.63578	0.431000	0.28591	ATG		0.527	CDK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056406.2		NM_006201		13	13	0	0	0	1	0	13	13		
GRIPAP1	56850	broad.mit.edu	37	X	48846411	48846411	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:48846411G>A	ENST00000376441.1	-	9	729	c.695C>T	c.(694-696)tCc>tTc	p.S232F	GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.S187F|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.S232F|GRIPAP1_ENST00000376423.4_Missense_Mutation_p.S179F	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	232						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CAGTTTCTCGGAGAGCTGGGG	0.368																																						uc004dly.1		NaN																	0				breast(2)|kidney(1)	3						c.(694-696)TCC>TTC		GRIP1 associated protein 1 isoform 1							42.0	38.0	39.0					X																	48846411		2201	4297	6498	SO:0001583	missense	56850					early endosome		g.chrX:48846411G>A	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.695C>T	X.37:g.48846411G>A	ENSP00000365624:p.Ser232Phe					GRIPAP1_uc004dlz.2_Missense_Mutation_p.S122F|GRIPAP1_uc004dma.2_Missense_Mutation_p.S179F	p.S232F	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN			9	730	-			232			Potential.		A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	c.695C>T	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826907	0.71143	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	T	0.53640	0.61	5.7	4.82	0.62117	.	0.292858	0.33023	N	0.005361	T	0.56001	0.1956	L	0.44542	1.39	0.09310	N	1	D;D;D	0.65815	0.995;0.986;0.986	P;P;P	0.62560	0.904;0.748;0.66	T	0.50491	-0.8822	10	0.62326	D	0.03	-0.016	10.8861	0.46968	0.0:0.0:0.8124:0.1876	.	179;122;232	Q4V328-2;Q4V328-3;Q4V328	.;.;GRAP1_HUMAN	F	232;187;232;232;179	ENSP00000365608:S232F	ENSP00000365606:S179F	S	-	2	0	GRIPAP1	48731355	0.997000	0.39634	0.013000	0.15412	0.584000	0.36387	4.199000	0.58426	1.127000	0.42034	0.600000	0.82982	TCC		0.368	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2		NM_207672		6	5	0	0	0	1	0	6	5		
KDM5C	8242	broad.mit.edu	37	X	53222481	53222481	+	Silent	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:53222481G>T	ENST00000375401.3	-	26	4883	c.4351C>A	c.(4351-4353)Cgg>Agg	p.R1451R	KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000404049.3_Silent_p.R1450R|KDM5C_ENST00000375383.3_Silent_p.R1407R|KDM5C_ENST00000375379.3_Silent_p.R1448R	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1451					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GCCCGGCCCCGAGCCCGACTC	0.677			"""N, F, S"""		clear cell renal carcinoma																																	uc004drz.2		NaN		Rec	yes		X	Xp11.22-p11.21	8242	N|F|S	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						c.(4351-4353)CGG>AGG		jumonji, AT rich interactive domain 1C isoform							15.0	15.0	15.0					X																	53222481		2191	4272	6463	SO:0001819	synonymous_variant	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53222481G>T	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.4351C>A	X.37:g.53222481G>T						KDM5C_uc011moc.1_Intron|KDM5C_uc011mod.1_Intron|KDM5C_uc004dsa.2_Silent_p.R1450R|uc004dsb.1_Intron	p.R1451R	NM_004187	NP_004178	P41229	KDM5C_HUMAN			26	4884	-			1451					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Silent	SNP	ENST00000375401.3	37	c.4351C>A	CCDS14351.1																																																																																				0.677	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2		NM_004187		16	15	1	0	1.2644e-06	1	1.30368e-06	16	15		
SPIN3	169981	broad.mit.edu	37	X	57021092	57021092	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:57021092C>G	ENST00000374919.3	-	2	611	c.289G>C	c.(289-291)Gaa>Caa	p.E97Q		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	97					gamete generation (GO:0007276)					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						CTGTGAAGTTCCAATCCATAA	0.398																																						uc010nkj.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(289-291)GAA>CAA		spindlin family, member 3							126.0	128.0	128.0					X																	57021092		2174	4278	6452	SO:0001583	missense	169981				gamete generation			g.chrX:57021092C>G	AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271			27272	protein-coding gene	gene with protein product							Standard	NM_001010862		Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.289G>C	X.37:g.57021092C>G	ENSP00000364054:p.Glu97Gln					SPIN3_uc004duu.3_Intron|SPIN3_uc004duw.3_Intron|SPIN3_uc004duv.3_Intron|SPIN3_uc004dux.1_Missense_Mutation_p.E97Q	p.E97Q	NM_001010862	NP_001010862	Q5JUX0	SPIN3_HUMAN			2	575	-			97					B2RUW3|B7Z8W2|Q8N5D9	Missense_Mutation	SNP	ENST00000374919.3	37	c.289G>C	CCDS43963.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.976703	0.53720	.	.	ENSG00000204271	ENST00000374919	T	0.43294	0.95	2.45	2.45	0.29901	.	0.000000	0.64402	U	0.000012	T	0.41282	0.1152	M	0.71206	2.165	0.37706	D	0.924417	P	0.42908	0.793	B	0.40659	0.336	T	0.53704	-0.8401	10	0.49607	T	0.09	-8.9763	10.2355	0.43280	0.0:1.0:0.0:0.0	.	97	Q5JUX0	SPIN3_HUMAN	Q	97	ENSP00000364054:E97Q	ENSP00000364054:E97Q	E	-	1	0	SPIN3	57037817	1.000000	0.71417	0.884000	0.34674	0.622000	0.37654	4.502000	0.60400	1.517000	0.48917	0.600000	0.82982	GAA		0.398	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056908.1		XM_093024		50	57	0	0	0	1	0	50	57		
HEPH	9843	broad.mit.edu	37	X	65390566	65390566	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:65390566C>G	ENST00000343002.2	+	1	818	c.154C>G	c.(154-156)Ctg>Gtg	p.L52V	HEPH_ENST00000441993.2_Missense_Mutation_p.L55V|HEPH_ENST00000419594.1_Missense_Mutation_p.L55V|HEPH_ENST00000519389.1_Missense_Mutation_p.L106V|HEPH_ENST00000374727.3_Missense_Mutation_p.L55V|HEPH_ENST00000336279.5_Intron			Q9BQS7	HEPH_HUMAN	hephaestin	52	Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GAACCAGCCTCTGGACAGTGA	0.507																																						uc011moz.1		NaN																	0				lung(5)|ovary(4)	9						c.(163-165)CTG>GTG		hephaestin isoform a							90.0	56.0	67.0					X																	65390566		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65390566C>G	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.154C>G	X.37:g.65390566C>G	ENSP00000343939:p.Leu52Val					HEPH_uc004dwn.2_Missense_Mutation_p.L55V|HEPH_uc004dwo.2_Intron|HEPH_uc010nkr.2_Missense_Mutation_p.L55V|HEPH_uc011mpa.1_Missense_Mutation_p.L55V	p.L55V	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			2	223	+			52			Extracellular (Potential).|Plastocyanin-like 1.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.163C>G		.	.	.	.	.	.	.	.	.	.	C	8.375	0.836105	0.16891	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000458621;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.99014	-5.33;-5.33;-5.33;-5.33;-5.33;-5.33;-5.33	5.01	4.11	0.48088	Cupredoxin (2);	0.348366	0.26130	N	0.026165	D	0.96134	0.8740	L	0.42632	1.34	0.23946	N	0.99638	B;B;B	0.14012	0.002;0.009;0.004	B;B;B	0.13407	0.002;0.007;0.009	D	0.86923	0.2068	10	0.10902	T	0.67	.	6.5411	0.22380	0.1888:0.6027:0.2086:0.0	.	106;55;52	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	V	106;55;52;55;55;52;52	ENSP00000430620:L106V;ENSP00000363859:L55V;ENSP00000396907:L52V;ENSP00000411687:L55V;ENSP00000413211:L55V;ENSP00000343939:L52V;ENSP00000398078:L52V	ENSP00000343939:L52V	L	+	1	2	HEPH	65307291	0.574000	0.26684	0.996000	0.52242	0.838000	0.47535	0.079000	0.14782	2.308000	0.77769	0.513000	0.50165	CTG		0.507	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1		NM_138737		9	11	0	0	0	1	0	9	11		
STARD8	9754	broad.mit.edu	37	X	67938374	67938374	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:67938374G>A	ENST00000252336.6	+	5	1750	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K	STARD8_ENST00000374597.3_Missense_Mutation_p.E460K|STARD8_ENST00000374599.3_Missense_Mutation_p.E540K	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	460					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CTCCATGAATGAGGCTGAGGC	0.592																																						uc004dxa.2		NaN																	0				breast(3)|ovary(2)|pancreas(1)	6						c.(1378-1380)GAG>AAG		StAR-related lipid transfer (START) domain							49.0	40.0	43.0					X																	67938374		2203	4300	6503	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67938374G>A	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1378G>A	X.37:g.67938374G>A	ENSP00000252336:p.Glu460Lys					STARD8_uc004dxb.2_Missense_Mutation_p.E540K|STARD8_uc004dxc.3_Missense_Mutation_p.E460K	p.E460K	NM_014725	NP_055540	Q92502	STAR8_HUMAN			5	1750	+			460					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.1378G>A	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974987	0.74360	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.09163	3.01;3.01;3.01	4.98	4.98	0.66077	.	0.062852	0.64402	D	0.000009	T	0.22551	0.0544	M	0.79693	2.465	0.58432	D	0.999995	P;P	0.37997	0.542;0.614	B;B	0.42738	0.396;0.298	T	0.02138	-1.1207	10	0.66056	D	0.02	.	14.7163	0.69272	0.0:0.0:1.0:0.0	.	540;460	Q92502-2;Q92502	.;STAR8_HUMAN	K	460;540;460	ENSP00000252336:E460K;ENSP00000363727:E540K;ENSP00000363725:E460K	ENSP00000252336:E460K	E	+	1	0	STARD8	67855099	1.000000	0.71417	0.227000	0.23927	0.960000	0.62799	8.358000	0.90090	2.056000	0.61249	0.600000	0.82982	GAG		0.592	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2		NM_014725		14	14	0	0	0	1	0	14	14		
MED12	9968	broad.mit.edu	37	X	70338683	70338683	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:70338683C>G	ENST00000374080.3	+	1	111	c.79C>G	c.(79-81)Cag>Gag	p.Q27E	MED12_ENST00000333646.6_Missense_Mutation_p.Q27E|MED12_ENST00000374102.1_Missense_Mutation_p.Q27E			Q93074	MED12_HUMAN	mediator complex subunit 12	27					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGTTTACCCTCAGGACCCCAA	0.677			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.2		NaN		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(79-81)CAG>GAG		mediator complex subunit 12							14.0	15.0	14.0					X																	70338683		1799	4042	5841	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70338683C>G	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.79C>G	X.37:g.70338683C>G	ENSP00000363193:p.Gln27Glu					MED12_uc011mpq.1_Missense_Mutation_p.Q27E|MED12_uc004dyz.2_Missense_Mutation_p.Q27E|MED12_uc004dza.2_5'Flank	p.Q27E	NM_005120	NP_005111	Q93074	MED12_HUMAN			1	278	+	Renal(35;0.156)		27					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.79C>G	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	31	5.061478	0.93846	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080	T;T;T	0.61158	0.13;0.13;0.13	4.13	4.13	0.48395	.	0.000000	0.64402	D	0.000003	T	0.73806	0.3634	M	0.68317	2.08	0.58432	D	0.999999	D;D;D	0.59767	0.978;0.986;0.962	D;D;P	0.73380	0.98;0.979;0.904	T	0.78478	-0.2188	10	0.87932	D	0	-7.4772	16.5122	0.84288	0.0:1.0:0.0:0.0	.	27;27;27	F5H3Y1;Q93074-3;Q93074	.;.;MED12_HUMAN	E	27	ENSP00000333125:Q27E;ENSP00000363215:Q27E;ENSP00000363193:Q27E	ENSP00000333125:Q27E	Q	+	1	0	MED12	70255408	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.732000	0.74790	2.007000	0.58848	0.431000	0.28591	CAG		0.677	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1		NM_005120		12	14	0	0	0	1	0	12	14		
ZMYM3	9203	broad.mit.edu	37	X	70465551	70465551	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:70465551C>T	ENST00000353904.2	-	17	3014	c.2827G>A	c.(2827-2829)Gag>Aag	p.E943K	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.E945K|ZMYM3_ENST00000314425.5_Missense_Mutation_p.E943K|ZMYM3_ENST00000373984.3_Missense_Mutation_p.E945K|ZMYM3_ENST00000373998.1_Missense_Mutation_p.E931K	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	943					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TCTAACTCCTCAGCCTCTGCA	0.547																																						uc004dzh.1		NaN																	0				ovary(1)	1						c.(2827-2829)GAG>AAG		zinc finger protein 261							109.0	77.0	88.0					X																	70465551		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70465551C>T	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.2827G>A	X.37:g.70465551C>T	ENSP00000343909:p.Glu943Lys					BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.E943K|ZMYM3_uc004dzj.1_Missense_Mutation_p.E931K	p.E943K	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			17	2914	-	Renal(35;0.156)		943					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.2827G>A	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	21.8	4.197898	0.79015	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.46063	1.51;0.88;1.51;1.51;1.51	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.52565	0.1742	L	0.31065	0.9	0.43569	D	0.995898	D;D	0.76494	0.999;0.996	D;P	0.76071	0.987;0.784	T	0.39722	-0.9600	10	0.21014	T	0.42	-21.501	18.5203	0.90950	0.0:1.0:0.0:0.0	.	931;943	Q14202-2;Q14202	.;ZMYM3_HUMAN	K	943;931;943;945;945	ENSP00000322845:E943K;ENSP00000363110:E931K;ENSP00000343909:E943K;ENSP00000363096:E945K;ENSP00000363100:E945K	ENSP00000322845:E943K	E	-	1	0	ZMYM3	70382276	0.998000	0.40836	0.998000	0.56505	0.996000	0.88848	3.398000	0.52579	2.571000	0.86741	0.597000	0.82753	GAG		0.547	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1		NM_201599		10	12	0	0	0	1	0	10	12		
PHKA1	5255	broad.mit.edu	37	X	71915560	71915560	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:71915560G>A	ENST00000373542.4	-	4	611	c.452C>T	c.(451-453)tCa>tTa	p.S151L	PHKA1-AS1_ENST00000420998.1_RNA|PHKA1_ENST00000339490.3_Missense_Mutation_p.S151L|PHKA1_ENST00000373539.3_Missense_Mutation_p.S151L|PHKA1_ENST00000373545.3_Missense_Mutation_p.S151L|PHKA1_ENST00000541944.1_Missense_Mutation_p.S151L	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	151					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GTACTGACCTGAGGCAGTCAT	0.498																																						uc004eax.3		NaN																	0				ovary(3)|skin(1)	4						c.(451-453)TCA>TTA		phosphorylase kinase, alpha 1 (muscle) isoform							115.0	90.0	99.0					X																	71915560		2203	4300	6503	SO:0001583	missense	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71915560G>A		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.452C>T	X.37:g.71915560G>A	ENSP00000362643:p.Ser151Leu					PHKA1_uc004eay.3_Missense_Mutation_p.S151L|PHKA1_uc011mqi.1_Missense_Mutation_p.S151L	p.S151L	NM_002637	NP_002628	P46020	KPB1_HUMAN			4	753	-	Renal(35;0.156)		151					B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	c.452C>T	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822545	0.90873	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75;-2.75	4.68	4.68	0.58851	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.95859	0.8652	M	0.89785	3.06	0.80722	D	1	D;P;D	0.89917	1.0;0.521;0.988	D;P;P	0.87578	0.998;0.452;0.904	D	0.96557	0.9412	10	0.87932	D	0	-1.6412	14.0723	0.64868	0.0:0.0:1.0:0.0	.	151;151;151	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	L	151	ENSP00000362646:S151L;ENSP00000362643:S151L;ENSP00000441251:S151L;ENSP00000342469:S151L;ENSP00000362640:S151L	ENSP00000342469:S151L	S	-	2	0	PHKA1	71832285	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.514000	0.98013	2.285000	0.76669	0.600000	0.82982	TCA		0.498	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1				16	19	0	0	0	1	0	16	19		
POU3F4	5456	broad.mit.edu	37	X	82763834	82763834	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:82763834G>A	ENST00000373200.2	+	1	566	c.502G>A	c.(502-504)Gag>Aag	p.E168K	RP3-326L13.2_ENST00000607095.1_RNA|RP3-326L13.3_ENST00000607789.1_lincRNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	168					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GGTGCTCCGAGAGCCCCCGGA	0.637																																						uc004eeg.2		NaN																	0				ovary(1)	1						c.(502-504)GAG>AAG		POU domain, class 3, transcription factor 4							18.0	18.0	18.0					X																	82763834		2203	4298	6501	SO:0001583	missense	5456				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	g.chrX:82763834G>A	X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.502G>A	X.37:g.82763834G>A	ENSP00000362296:p.Glu168Lys						p.E168K	NM_000307	NP_000298	P49335	PO3F4_HUMAN			1	566	+			168					B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	ENST00000373200.2	37	c.502G>A	CCDS14450.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093932	0.36952	.	.	ENSG00000196767	ENST00000373200	D	0.85556	-2.0	5.31	4.43	0.53597	.	0.314188	0.33040	N	0.005357	T	0.70885	0.3275	N	0.08118	0	0.43959	D	0.996632	B	0.18968	0.032	B	0.20184	0.028	T	0.67268	-0.5713	10	0.34782	T	0.22	.	12.4836	0.55859	0.0842:0.0:0.9158:0.0	.	168	P49335	PO3F4_HUMAN	K	168	ENSP00000362296:E168K	ENSP00000362296:E168K	E	+	1	0	POU3F4	82650490	1.000000	0.71417	0.990000	0.47175	0.490000	0.33462	3.795000	0.55499	2.357000	0.79964	0.525000	0.51046	GAG		0.637	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2		NM_000307		10	6	0	0	0	1	0	10	6		
RPS6KA6	27330	broad.mit.edu	37	X	83361413	83361413	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:83361413C>T	ENST00000262752.2	-	15	1332	c.1325G>A	c.(1324-1326)cGa>cAa	p.R442Q	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.R442Q	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	442	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATGTATGCATCGCTTGCAAAC	0.353																																						uc004eej.1		NaN																	0				lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						c.(1324-1326)CGA>CAA		ribosomal protein S6 kinase polypeptide 6							125.0	91.0	102.0					X																	83361413		2203	4299	6502	SO:0001583	missense	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83361413C>T	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1325G>A	X.37:g.83361413C>T	ENSP00000262752:p.Arg442Gln					RPS6KA6_uc011mqt.1_Missense_Mutation_p.R442Q|RPS6KA6_uc011mqu.1_Missense_Mutation_p.R339Q	p.R442Q	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN			15	1402	-			442			Protein kinase 2.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.1325G>A	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478860	0.84747	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.41758	0.99;0.99	5.45	4.59	0.56863	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.41442	0.1159	L	0.42744	1.35	0.80722	D	1	D;P	0.55172	0.97;0.939	P;B	0.46685	0.524;0.342	T	0.29305	-1.0016	10	0.51188	T	0.08	.	13.2614	0.60106	0.0:0.9216:0.0:0.0784	.	442;442	B7ZL90;Q9UK32	.;KS6A6_HUMAN	Q	442	ENSP00000262752:R442Q;ENSP00000440830:R442Q	ENSP00000262752:R442Q	R	-	2	0	RPS6KA6	83248069	1.000000	0.71417	0.999000	0.59377	0.889000	0.51656	4.786000	0.62425	1.057000	0.40506	0.422000	0.28245	CGA		0.353	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1		NM_014496		4	7	0	0	0	1	0	4	7		
RAB9B	51209	broad.mit.edu	37	X	103080330	103080330	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:103080330C>T	ENST00000243298.2	-	3	669	c.385G>A	c.(385-387)Gag>Aag	p.E129K		NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	129					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						TGCCTATCCTCTTTGTCTACC	0.433																																						uc004ell.1		NaN																	0				lung(3)	3						c.(385-387)GAG>AAG		RAB9B, member RAS oncogene family							223.0	216.0	218.0					X																	103080330		2203	4300	6503	SO:0001583	missense	51209				Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding	g.chrX:103080330C>T	AB036693	CCDS14515.1	Xq22.1-q22.3	2010-04-19			ENSG00000123570	ENSG00000123570		"""RAB, member RAS oncogene"""	14090	protein-coding gene	gene with protein product		300285				11043518	Standard	NM_016370		Approved	RAB9L	uc004ell.2	Q9NP90	OTTHUMG00000022112	ENST00000243298.2:c.385G>A	X.37:g.103080330C>T	ENSP00000243298:p.Glu129Lys					RAB9B_uc004eli.1_Intron	p.E129K	NM_016370	NP_057454	Q9NP90	RAB9B_HUMAN			3	670	-			129					B2R8M0|Q52LX2	Missense_Mutation	SNP	ENST00000243298.2	37	c.385G>A	CCDS14515.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.958648	0.34565	.	.	ENSG00000123570	ENST00000243298	T	0.77098	-1.07	5.51	4.64	0.57946	Small GTP-binding protein domain (1);	0.449783	0.26503	N	0.024019	T	0.65616	0.2708	L	0.37750	1.13	0.41917	D	0.99049	B	0.02656	0.0	B	0.04013	0.001	T	0.64158	-0.6473	10	0.52906	T	0.07	-16.7503	6.6376	0.22891	0.0:0.8006:0.0:0.1994	.	129	Q9NP90	RAB9B_HUMAN	K	129	ENSP00000243298:E129K	ENSP00000243298:E129K	E	-	1	0	RAB9B	102966986	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.653000	0.37323	2.311000	0.77944	0.600000	0.82982	GAG		0.433	RAB9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057746.1				94	87	0	0	0	1	0	94	87		
ZCCHC16	340595	broad.mit.edu	37	X	111698857	111698857	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:111698857C>T	ENST00000340433.2	+	1	1131	c.901C>T	c.(901-903)Ccg>Tcg	p.P301S		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	301							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.P301S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTCTCGAGCTCCGGCAACGAC	0.478																																						uc004epo.1		NaN																	1	Substitution - Missense(1)		skin(1)	ovary(1)	1						c.(901-903)CCG>TCG		zinc finger, CCHC domain containing 16							39.0	37.0	38.0					X																	111698857		2203	4300	6503	SO:0001583	missense	340595						nucleic acid binding|zinc ion binding	g.chrX:111698857C>T	AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.901C>T	X.37:g.111698857C>T	ENSP00000340590:p.Pro301Ser						p.P301S	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN			3	1342	+			301					B2RPG1	Missense_Mutation	SNP	ENST00000340433.2	37	c.901C>T	CCDS35369.1	.	.	.	.	.	.	.	.	.	.	C	0.326	-0.958959	0.02267	.	.	ENSG00000187823	ENST00000340433	T	0.34667	1.35	3.8	2.93	0.34026	Zinc finger, CCHC retroviral-type (1);	0.000000	0.37053	N	0.002276	T	0.40932	0.1137	L	0.42245	1.32	0.29101	N	0.881478	D	0.57899	0.981	P	0.61275	0.886	T	0.18903	-1.0322	10	0.26408	T	0.33	-2.4488	6.2981	0.21097	0.0:0.8641:0.0:0.1359	.	301	Q6ZR62	ZCH16_HUMAN	S	301	ENSP00000340590:P301S	ENSP00000340590:P301S	P	+	1	0	ZCCHC16	111585513	0.989000	0.36119	0.905000	0.35620	0.024000	0.10985	0.911000	0.28584	0.978000	0.38470	0.529000	0.55759	CCG		0.478	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1		NM_001004308		22	25	0	0	0	1	0	22	25		
ZCCHC12	170261	broad.mit.edu	37	X	117959628	117959628	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:117959628C>G	ENST00000310164.2	+	4	928	c.421C>G	c.(421-423)Caa>Gaa	p.Q141E		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	141					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						cctacaagctcaaggggagaa	0.478																																						uc004equ.2		NaN																	0				ovary(1)	1						c.(421-423)CAA>GAA		zinc finger, CCHC domain containing 12							133.0	134.0	134.0					X																	117959628		2203	4300	6503	SO:0001583	missense	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117959628C>G	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.421C>G	X.37:g.117959628C>G	ENSP00000308921:p.Gln141Glu						p.Q141E	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN			4	894	+			141					B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	c.421C>G	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	C	1.613	-0.523531	0.04141	.	.	ENSG00000174460	ENST00000310164	T	0.08984	3.03	3.09	3.09	0.35607	.	0.728218	0.11336	N	0.574575	T	0.06962	0.0177	L	0.52759	1.655	0.21933	N	0.999462	B	0.31817	0.341	B	0.28011	0.085	T	0.31194	-0.9952	10	0.02654	T	1	-0.3284	8.7855	0.34818	0.0:1.0:0.0:0.0	.	141	Q6PEW1	ZCH12_HUMAN	E	141	ENSP00000308921:Q141E	ENSP00000308921:Q141E	Q	+	1	0	ZCCHC12	117843656	0.016000	0.18221	0.911000	0.35937	0.872000	0.50106	0.971000	0.29396	1.801000	0.52704	0.594000	0.82650	CAA		0.478	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1		NM_173798		57	67	0	0	0	1	0	57	67		
CUL4B	8450	broad.mit.edu	37	X	119669775	119669775	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:119669775G>C	ENST00000404115.3	-	18	2525	c.2124C>G	c.(2122-2124)ttC>ttG	p.F708L	CUL4B_ENST00000371322.5_Missense_Mutation_p.F690L|CUL4B_ENST00000336592.6_Missense_Mutation_p.F695L	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	708					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAAATGTCTTGAAAATCTCCT	0.348																																						uc004esw.2		NaN																	0				lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(2122-2124)TTC>TTG		cullin 4B isoform 1							131.0	127.0	128.0					X																	119669775		2203	4300	6503	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119669775G>C	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.2124C>G	X.37:g.119669775G>C	ENSP00000384109:p.Phe708Leu					CUL4B_uc010nqq.2_Missense_Mutation_p.F409L|CUL4B_uc004esv.2_Missense_Mutation_p.F690L	p.F708L	NM_003588	NP_003579	Q13620	CUL4B_HUMAN			18	2561	-			708					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.2124C>G	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804726	0.70682	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	D;D;D	0.84660	-1.88;-1.88;-1.88	5.79	3.09	0.35607	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.92841	0.7723	M	0.93462	3.42	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.995	D;D;D	0.73380	0.98;0.974;0.927	D	0.91165	0.4964	9	.	.	.	-11.4871	8.1219	0.30976	0.3177:0.0:0.6823:0.0	.	512;708;690	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	L	690;695;708	ENSP00000360373:F690L;ENSP00000338919:F695L;ENSP00000384109:F708L	.	F	-	3	2	CUL4B	119553803	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	0.998000	0.29744	0.230000	0.21059	-0.230000	0.12252	TTC		0.348	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1		NM_003588		43	26	0	0	0	1	0	43	26		
FMR1NB	158521	broad.mit.edu	37	X	147088242	147088242	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:147088242C>T	ENST00000370467.3	+	3	492	c.418C>T	c.(418-420)Cag>Tag	p.Q140*	5S_rRNA_ENST00000364415.1_RNA	NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	140	P-type.					integral component of membrane (GO:0016021)|nucleolus (GO:0005730)				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGGAAAATCAGGTGGCAAA	0.378																																						uc004fcm.2		NaN																	0				ovary(1)	1						c.(418-420)CAG>TAG		fragile X mental retardation 1 neighbor							161.0	152.0	155.0					X																	147088242		2203	4300	6503	SO:0001587	stop_gained	158521					integral to membrane		g.chrX:147088242C>T		CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"""cancer/testis antigen 37"""					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.418C>T	X.37:g.147088242C>T	ENSP00000359498:p.Gln140*						p.Q140*	NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN			3	492	+	Acute lymphoblastic leukemia(192;6.56e-05)		140			P-type.|Extracellular (Potential).		D3DWT3	Nonsense_Mutation	SNP	ENST00000370467.3	37	c.418C>T	CCDS14683.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901518	0.72754	.	.	ENSG00000176988	ENST00000370467	.	.	.	5.32	0.0925	0.14473	.	0.377799	0.19429	N	0.114485	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-15.2649	8.5482	0.33435	0.2775:0.3229:0.3996:0.0	.	.	.	.	X	140	.	ENSP00000359498:Q140X	Q	+	1	0	FMR1NB	146895934	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.120000	0.10660	-0.472000	0.06881	-0.292000	0.09595	CAG		0.378	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1		NM_152578		29	30	0	0	0	1	0	29	30		
MTM1	4534	broad.mit.edu	37	X	149807437	149807437	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:149807437G>A	ENST00000370396.2	+	7	520	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	MTM1_ENST00000413012.2_Missense_Mutation_p.E119K|MTM1_ENST00000542741.1_Missense_Mutation_p.E61K|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.E41K	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	156					endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					ATTTTTAAATGAAGAAAAGTT	0.348																																						uc004fef.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						c.(466-468)GAA>AAA		myotubularin							143.0	131.0	135.0					X																	149807437		2203	4300	6503	SO:0001583	missense	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149807437G>A	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.466G>A	X.37:g.149807437G>A	ENSP00000359423:p.Glu156Lys					MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.E119K|MTM1_uc011mxz.1_Missense_Mutation_p.E41K|MTM1_uc010nte.2_Missense_Mutation_p.E24K	p.E156K	NM_000252	NP_000243	Q13496	MTM1_HUMAN			7	542	+	Acute lymphoblastic leukemia(192;6.56e-05)		156					A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	c.466G>A	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	G	7.364	0.625368	0.14257	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000424519;ENST00000413012	D;D;D;D;D	0.96041	-3.83;-3.89;-3.57;-3.39;-3.77	5.27	5.27	0.74061	.	0.049873	0.85682	D	0.000000	D	0.86506	0.5949	N	0.10733	0.035	0.35850	D	0.826674	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.81728	-0.0800	10	0.02654	T	1	.	11.7292	0.51726	0.0838:0.0:0.9162:0.0	.	119;156	B7Z491;Q13496	.;MTM1_HUMAN	K	156;61;41;85;119	ENSP00000359423:E156K;ENSP00000444015:E61K;ENSP00000439784:E41K;ENSP00000400699:E85K;ENSP00000389157:E119K	ENSP00000359423:E156K	E	+	1	0	MTM1	149558095	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.053000	0.49901	2.321000	0.78463	0.594000	0.82650	GAA		0.348	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3		NM_000252		23	27	0	0	0	1	0	23	27		
GABRA3	2556	broad.mit.edu	37	X	151358368	151358368	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:151358368C>A	ENST00000370314.4	-	9	1215	c.977G>T	c.(976-978)aGa>aTa	p.R326I	GABRA3_ENST00000535043.1_Missense_Mutation_p.R326I|GABRA3_ENST00000497894.1_5'UTR	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	326					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|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)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TAAGGAATTTCTGGCACTGAT	0.458																																					NSCLC(142;2578 2613 10251 16743)	uc010ntk.1		NaN																	0				ovary(1)	1						c.(976-978)AGA>ATA		gamma-aminobutyric acid A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						77.0	75.0	76.0					X																	151358368		2203	4300	6503	SO:0001583	missense	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chrX:151358368C>A		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.977G>T	X.37:g.151358368C>A	ENSP00000359337:p.Arg326Ile						p.R326I	NM_000808	NP_000799	P34903	GBRA3_HUMAN			9	1217	-	Acute lymphoblastic leukemia(192;6.56e-05)		326					Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	c.977G>T	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.748740	0.89753	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	D;D;D	0.86769	-2.17;-2.17;-2.17	5.56	5.56	0.83823	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92586	0.7645	M	0.66560	2.04	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.93298	0.6674	10	0.87932	D	0	.	15.8263	0.78709	0.0:1.0:0.0:0.0	.	326	P34903	GBRA3_HUMAN	I	326	ENSP00000359337:R326I;ENSP00000359334:R326I;ENSP00000443527:R326I	ENSP00000359334:R326I	R	-	2	0	GABRA3	151109024	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.768000	0.85345	2.335000	0.79485	0.597000	0.82753	AGA		0.458	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1		NM_000808		20	29	1	0	1.66031e-10	1	1.73405e-10	20	29		
TREX2	11219	broad.mit.edu	37	X	152710201	152710201	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:152710201C>T	ENST00000334497.2	-	11	1958	c.817G>A	c.(817-819)Gat>Aat	p.D273N	HAUS7_ENST00000484394.1_5'Flank|TREX2_ENST00000338525.2_Missense_Mutation_p.D230N|TREX2_ENST00000393862.2_Missense_Mutation_p.D230N|TREX2_ENST00000402951.1_Missense_Mutation_p.D273N|TREX2_ENST00000370231.2_Missense_Mutation_p.D230N|TREX2_ENST00000414588.1_Missense_Mutation_p.D272N|TREX2_ENST00000330912.2_Missense_Mutation_p.D230N|TREX2_ENST00000370232.1_Missense_Mutation_p.D273N			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	273					DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)	nucleus (GO:0005634)	3'-5'-exodeoxyribonuclease activity (GO:0008296)|exodeoxyribonuclease III activity (GO:0008853)|magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGGTCATCAGGCGGCAAG	0.687								Editing and processing nucleases																														uc010nue.1		NaN																	0				large_intestine(1)	1						c.(814-816)GAT>AAT	Editing_and_processing_nucleases	three prime repair exonuclease 2							14.0	11.0	12.0					X																	152710201		2186	4267	6453	SO:0001583	missense	11219				DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding	g.chrX:152710201C>T	AF151107	CCDS35437.1	Xq28	2012-05-08			ENSG00000183479	ENSG00000183479			12270	protein-coding gene	gene with protein product		300370				10391904	Standard	NM_080701		Approved		uc011myp.2	Q9BQ50	OTTHUMG00000159319	ENST00000334497.2:c.817G>A	X.37:g.152710201C>T	ENSP00000334993:p.Asp273Asn					TREX2_uc010nud.1_Missense_Mutation_p.D230N|TREX2_uc011myp.1_Missense_Mutation_p.D230N|HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA	p.D272N	NM_080701	NP_542432	Q9BQ50	TREX2_HUMAN			3	930	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		273					Q45F08|Q9UN77	Missense_Mutation	SNP	ENST00000334497.2	37	c.814G>A		.	.	.	.	.	.	.	.	.	.	C	13.34	2.208456	0.39003	.	.	ENSG00000183479	ENST00000393862;ENST00000330912;ENST00000338525;ENST00000334497;ENST00000370232;ENST00000402951;ENST00000414588;ENST00000370231	T;T;T;T;T;T;T;T	0.48201	0.92;0.92;0.92;0.85;0.85;0.85;0.82;0.92	4.35	3.42	0.39159	.	1.056030	0.07583	U	0.920606	T	0.34250	0.0891	L	0.27053	0.805	0.09310	N	1	B;B	0.33694	0.421;0.18	B;B	0.29942	0.109;0.048	T	0.13388	-1.0511	10	0.32370	T	0.25	-8.2508	9.8025	0.40773	0.0:0.7934:0.2066:0.0	.	272;273	Q06S70;Q9BQ50	.;TREX2_HUMAN	N	230;230;230;273;273;273;272;230	ENSP00000377442:D230N;ENSP00000333441:D230N;ENSP00000345218:D230N;ENSP00000334993:D273N;ENSP00000359252:D273N;ENSP00000386078:D273N;ENSP00000401692:D272N;ENSP00000359251:D230N	ENSP00000333441:D230N	D	-	1	0	TREX2	152363395	0.021000	0.18746	0.013000	0.15412	0.009000	0.06853	1.046000	0.30354	1.894000	0.54839	0.468000	0.43344	GAT		0.687	TREX2-001	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000060966.1		NM_080701		5	3	0	0	0	1	0	5	3		
UTY	7404	broad.mit.edu	37	Y	15478205	15478205	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrY:15478205G>A	ENST00000331397.4	-	10	1815	c.808C>T	c.(808-810)Ctc>Ttc	p.L270F	UTY_ENST00000362096.4_Missense_Mutation_p.L270F|UTY_ENST00000537580.1_Missense_Mutation_p.L270F|UTY_ENST00000329134.5_Missense_Mutation_p.L270F|UTY_ENST00000545955.1_Missense_Mutation_p.L270F|UTY_ENST00000538878.1_Missense_Mutation_p.L270F|UTY_ENST00000540140.1_Missense_Mutation_p.L270F|UTY_ENST00000382896.4_Missense_Mutation_p.L270F	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	270					regulation of gene expression (GO:0010468)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)			kidney(1)|lung(6)	7						GACTTTTGGAGATACTGAATA	0.368																																					Colon(103;1740 2135 40732 45171)	uc004fsx.1		NaN																	0					0						c.(808-810)CTC>TTC		tetratricopeptide repeat protein isoform 3							72.0	77.0	76.0					Y																	15478205		597	1946	2543	SO:0001583	missense	7404				chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrY:15478205G>A	AF000994	CCDS14783.1, CCDS14784.1, CCDS14785.1, CCDS59184.1, CCDS76073.1, CCDS76074.1, CCDS76075.1, CCDS76076.1, CCDS76077.1, CCDS76078.1, CCDS76079.1	Yq11.221	2013-11-04	2012-11-15		ENSG00000183878	ENSG00000183878		"""Tetratricopeptide (TTC) repeat domain containing"""	12638	protein-coding gene	gene with protein product		400009	"""ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome"", ""ubiquitously transcribed tetratricopeptide repeat gene, Y-linked"""			8944031, 9499428	Standard	NM_182659		Approved	KDM6AL	uc022ckf.2	O14607	OTTHUMG00000036319	ENST00000331397.4:c.808C>T	Y.37:g.15478205G>A	ENSP00000328939:p.Leu270Phe					UTY_uc004fsy.2_Missense_Mutation_p.L270F|UTY_uc004fsz.2_Missense_Mutation_p.L270F	p.L270F	NM_007125	NP_009056	O14607	UTY_HUMAN			10	1813	-			270			TPR 5.		A8K9Z3|E1U199|E1U1A0|F5H4V7|F8W8R7|O14608	Missense_Mutation	SNP	ENST00000331397.4	37	c.808C>T	CCDS14783.1																																																																																				0.368	UTY-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088394.1		NM_182660		12	22	0	0	0	1	0	12	22		
TMEM52	339456	broad.mit.edu	37	1	1850628	1850636	+	In_Frame_Del	DEL	AGCGGCAGG	AGCGGCAGG	-	rs575852588	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:1850628_1850636delAGCGGCAGG	ENST00000310991.3	-	1	76_84	c.69_77delCCTGCCGCT	c.(67-78)ctcctgccgctg>ctg	p.23_26LLPL>L	TMEM52_ENST00000378602.3_5'Flank	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	23						integral component of membrane (GO:0016021)				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACCTgcggcagcggcaggagcggcagga	0.766														1798	0.359026	0.0673	0.5072	5008	,	,		10019	0.4792		0.4891	False		,,,				2504	0.3906					uc001aij.2		NaN																	0					0						c.(67-78)CTCCTGCCGCTG>CTG		transmembrane protein 52 precursor				61,649		27,7,321						0.9	1.0			2	719,1347		316,87,630	no	coding	TMEM52	NM_178545.3		343,94,951	A1A1,A1R,RR		34.8015,8.5915,28.098				780,1996				SO:0001651	inframe_deletion	339456					integral to membrane		g.chr1:1850628_1850636delAGCGGCAGG	AJ278736	CCDS35.1	1p36.33	2008-02-05			ENSG00000178821	ENSG00000178821			27916	protein-coding gene	gene with protein product							Standard	NM_178545		Approved		uc001aij.2	Q8NDY8	OTTHUMG00000000944	ENST00000310991.3:c.69_77delCCTGCCGCT	1.37:g.1850637_1850645delAGCGGCAGG	ENSP00000311122:p.Leu23_Pro25del					TMEM52_uc001aii.2_5'Flank	p.23_26LLPL>L	NM_178545	NP_848640	Q8NDY8	TMM52_HUMAN		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	1	105_113	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	23_26					Q4VXS6|Q6UX25	In_Frame_Del	DEL	ENST00000310991.3	37	c.69_77delCCTGCCGCT	CCDS35.1																																																																																				0.766	TMEM52-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002781.1		NM_178545		5	3	NaN	NaN	NaN	NaN	NaN	5	3	---	---
EIF4EBP2	1979	broad.mit.edu	37	10	72179690	72179691	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:72179690_72179691delAG	ENST00000373218.4	+	2	189_190	c.166_167delAG	c.(166-168)agafs	p.R56fs		NM_004096.4	NP_004087.1	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E binding protein 2	56					cAMP-mediated signaling (GO:0019933)|insulin receptor signaling pathway (GO:0008286)|negative regulation of translational initiation (GO:0045947)|translation (GO:0006412)					large_intestine(1)	1						CATTTATGACAGAAAGTTTCTG	0.421																																						uc001jrb.2		NaN																	0					0						c.(166-168)AGAfs		eukaryotic translation initiation factor 4E																																				SO:0001589	frameshift_variant	1979				negative regulation of translational initiation|translation		eukaryotic initiation factor 4E binding	g.chr10:72179690_72179691delAG		CCDS7303.1	10q21-q22	2008-08-01			ENSG00000148730	ENSG00000148730			3289	protein-coding gene	gene with protein product		602224				7935836, 8975712	Standard	NM_004096		Approved		uc001jrb.3	Q13542	OTTHUMG00000018409	ENST00000373218.4:c.166_167delAG	10.37:g.72179690_72179691delAG	ENSP00000362314:p.Arg56fs						p.R56fs	NM_004096	NP_004087	Q13542	4EBP2_HUMAN			2	463_464	+			56						Frame_Shift_Del	DEL	ENST00000373218.4	37	c.166_167delAG	CCDS7303.1																																																																																				0.421	EIF4EBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048513.1		NM_004096		29	112	NaN	NaN	NaN	NaN	NaN	29	112	---	---
MYEOV	26579	broad.mit.edu	37	11	69063227	69063257	+	Frame_Shift_Del	DEL	GGTGACCGGGAGAGAAACAAGGGAGACAAGG	GGTGACCGGGAGAGAAACAAGGGAGACAAGG	-	rs374593243		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:69063227_69063257delGGTGACCGGGAGAGAAACAAGGGAGACAAGG	ENST00000308946.3	+	3	760_790	c.310_340delGGTGACCGGGAGAGAAACAAGGGAGACAAGG	c.(310-342)ggtgaccgggagagaaacaagggagacaagggtfs	p.GDRERNKGDKG104fs	MYEOV_ENST00000535407.1_Frame_Shift_Del_p.GDRERNKGDKG46fs|MYEOV_ENST00000441339.2_Frame_Shift_Del_p.GDRERNKGDKG104fs	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	104								p.R106M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		TGCTGGAGCTGGTGACCGGGAGAGAAACAAGGGAGACAAGGGTGCCCAGAC	0.636																																						uc001oov.2		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(310-342)GGTGACCGGGAGAGAAACAAGGGAGACAAGGGTfs		myeloma overexpressed																																				SO:0001589	frameshift_variant	26579							g.chr11:69063227_69063257delGGTGACCGGGAGAGAAACAAGGGAGACAAGG	AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"""myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"""			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.310_340delGGTGACCGGGAGAGAAACAAGGGAGACAAGG	11.37:g.69063227_69063257delGGTGACCGGGAGAGAAACAAGGGAGACAAGG	ENSP00000308330:p.Gly104fs					MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Frame_Shift_Del_p.G104fs|MYEOV_uc001oow.2_Frame_Shift_Del_p.G46fs	p.G104fs	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)	3	760_790	+	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		104_114					Q9UGN6|Q9UGN7	Frame_Shift_Del	DEL	ENST00000308946.3	37	c.310_340delGGTGACCGGGAGAGAAACAAGGGAGACAAGG	CCDS8190.1																																																																																				0.636	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1				17	154	NaN	NaN	NaN	NaN	NaN	17	154	---	---
ANKRD11	29123	broad.mit.edu	37	16	89348573	89348573	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:89348573delC	ENST00000301030.4	-	9	4837	c.4377delG	c.(4375-4377)aagfs	p.K1461fs	ANKRD11_ENST00000378330.2_Frame_Shift_Del_p.K1461fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1461	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ctctcttcttcttctctttTA	0.468																																						uc002fmx.1		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(4375-4377)AAGfs		ankyrin repeat domain 11							109.0	75.0	87.0					16																	89348573		2198	4300	6498	SO:0001589	frameshift_variant	29123					nucleus		g.chr16:89348573delC	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4377delG	16.37:g.89348573delC	ENSP00000301030:p.Lys1461fs					ANKRD11_uc002fmy.1_Frame_Shift_Del_p.K1459fs|ANKRD11_uc002fnc.1_Frame_Shift_Del_p.K1459fs|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Frame_Shift_Del_p.K1416fs	p.K1459fs	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	4838	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1459			Lys-rich.		Q6NTG1|Q6QMF8	Frame_Shift_Del	DEL	ENST00000301030.4	37	c.4377delG	CCDS32513.1																																																																																				0.468	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3		NM_013275		30	76	NaN	NaN	NaN	NaN	NaN	30	76	---	---
HLA-A	3105	broad.mit.edu	37	6	29910640	29910640	+	Frame_Shift_Del	DEL	C	C	-	rs3173429	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:29910640delC	ENST00000396634.1	+	4	521	c.180delC	c.(178-180)ttcfs	p.F60fs	HLA-A_ENST00000376802.2_Frame_Shift_Del_p.F60fs|HLA-A_ENST00000376809.5_Frame_Shift_Del_p.F60fs|HLA-A_ENST00000376806.5_Frame_Shift_Del_p.F60fs			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	60	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCGTGCGGTTCGACAGCGACG	0.667									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												uc003nol.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(178-180)TTCfs		major histocompatibility complex, class I, A							51.0	45.0	47.0					6																	29910640		2202	4298	6500	SO:0001589	frameshift_variant	3105	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910640delC	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.180delC	6.37:g.29910640delC	ENSP00000379873:p.Phe60fs	Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Frame_Shift_Del_p.F60fs|HLA-A_uc003noo.2_Frame_Shift_Del_p.F60fs|HLA-A_uc010jrr.2_Frame_Shift_Del_p.F60fs|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Frame_Shift_Del_p.F32fs|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank	p.F60fs	NM_002116	NP_002107	P30443	1A01_HUMAN			2	180	+			60			Extracellular (Potential).|Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Frame_Shift_Del	DEL	ENST00000396634.1	37	c.180delC	CCDS34373.1																																																																																				0.667	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1		NM_002116		19	68	NaN	NaN	NaN	NaN	NaN	19	68	---	---
PPP1R18	170954	broad.mit.edu	37	6	30653003	30653003	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:30653003delA	ENST00000274853.3	-	1	2669	c.793delT	c.(793-795)tcafs	p.S265fs	PPP1R18_ENST00000488324.1_Intron|NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000399199.3_Frame_Shift_Del_p.S265fs	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	265						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											TCTTCTCCTGACCTCAGCCTC	0.522																																						uc003nra.2		NaN																	0					0						c.(793-795)TCAfs		phostensin							248.0	278.0	268.0					6																	30653003		1289	2563	3852	SO:0001589	frameshift_variant	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30653003delA	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29413	protein-coding gene	gene with protein product	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	610990	"""KIAA1949"""	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.793delT	6.37:g.30653003delA	ENSP00000274853:p.Ser265fs					KIAA1949_uc003nrb.3_Frame_Shift_Del_p.S265fs	p.S265fs	NM_001134870	NP_001128342	Q6NYC8	PHTNS_HUMAN			2	1024	-			265					A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Frame_Shift_Del	DEL	ENST00000274853.3	37	c.793delT	CCDS43444.1																																																																																				0.522	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2		NM_133471		9	396	NaN	NaN	NaN	NaN	NaN	9	396	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68150658	68150658	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:68150658delG	ENST00000262215.3	-	22	3598	c.3209delC	c.(3208-3210)tctfs	p.S1070fs	ARFGEF1_ENST00000518230.1_5'UTR|ARFGEF1_ENST00000520381.1_Frame_Shift_Del_p.S524fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1070					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CACTGTTCCAGAAATGTATCG	0.398																																						uc003xxo.1		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8						c.(3208-3210)TCTfs		brefeldin A-inhibited guanine							83.0	76.0	78.0					8																	68150658		2203	4300	6503	SO:0001589	frameshift_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68150658delG	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3209delC	8.37:g.68150658delG	ENSP00000262215:p.Ser1070fs					ARFGEF1_uc003xxl.1_Frame_Shift_Del_p.S524fs|ARFGEF1_uc003xxn.1_Frame_Shift_Del_p.S53fs	p.S1070fs	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		22	3599	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1070					Q9NV46|Q9UFV2|Q9UNL0	Frame_Shift_Del	DEL	ENST00000262215.3	37	c.3209delC	CCDS6199.1																																																																																				0.398	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4		NM_006421		15	49	NaN	NaN	NaN	NaN	NaN	15	49	---	---
CSMD3	114788	broad.mit.edu	37	8	113504853	113504853	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:113504853delT	ENST00000297405.5	-	31	5387	c.5143delA	c.(5143-5145)atgfs	p.M1715fs	CSMD3_ENST00000455883.2_Frame_Shift_Del_p.M1611fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.M1715fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.M1675fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1715	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTATAATCCATTCCAAGTCTG	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NaN																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(5143-5145)ATGfs		CUB and Sushi multiple domains 3 isoform 1							170.0	152.0	158.0					8																	113504853		2203	4300	6503	SO:0001589	frameshift_variant	114788					integral to membrane|plasma membrane		g.chr8:113504853delT	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5143delA	8.37:g.113504853delT	ENSP00000297405:p.Met1715fs	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Frame_Shift_Del_p.M987fs|CSMD3_uc003ynt.2_Frame_Shift_Del_p.M1675fs|CSMD3_uc011lhx.1_Frame_Shift_Del_p.M1611fs	p.M1715fs	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			31	5302	-			1715			Extracellular (Potential).|Sushi 9.		Q96PZ3	Frame_Shift_Del	DEL	ENST00000297405.5	37	c.5143delA	CCDS6315.1																																																																																				0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900		22	83	NaN	NaN	NaN	NaN	NaN	22	83	---	---
