#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
SAMD11	148398	broad.mit.edu	37	1	879384	879384	+	Missense_Mutation	SNP	G	G	A	rs187111693	byFrequency	TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:879384G>A	ENST00000342066.3	+	14	1980	c.1897G>A	c.(1897-1899)Ggc>Agc	p.G633S		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	633					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GCGAGAACTCGGCACAGGAGA	0.682													g|||	17	0.00339457	0.0	0.0	5008	,	,		14003	0.0149		0.0	False		,,,				2504	0.002					uc001abw.1		NaN																	0					0						c.(1897-1899)GGC>AGC		sterile alpha motif domain containing 11							38.0	45.0	43.0					1																	879384		2203	4299	6502	SO:0001583	missense	148398					nucleus		g.chr1:879384G>A	BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"""Sterile alpha motif (SAM) domain containing"""	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.1897G>A	1.37:g.879384G>A	ENSP00000342313:p.Gly633Ser					SAMD11_uc001abx.1_Missense_Mutation_p.G496S	p.G633S	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	14	1977	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	633					A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Missense_Mutation	SNP	ENST00000342066.3	37	c.1897G>A	CCDS2.2	6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	G	1.924	-0.447647	0.04572	.	.	ENSG00000187634	ENST00000342066	.	.	.	3.9	-3.95	0.04118	.	1.322680	0.05013	N	0.471332	T	0.07593	0.0191	N	0.01048	-1.04	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.04013	0.001;0.0	T	0.23976	-1.0173	8	.	.	.	0.1373	7.0633	0.25137	0.2007:0.4496:0.3497:0.0	.	617;633	Q96NU1-1;Q96NU1	.;SAM11_HUMAN	S	633	.	.	G	+	1	0	SAMD11	869247	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.053000	0.11846	-0.476000	0.06842	-0.477000	0.04895	GGC		0.682	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2		NM_152486		53	45	0	0	0	0.01441	0	53	45		
TPRG1L	127262	broad.mit.edu	37	1	3544178	3544178	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:3544178G>A	ENST00000378344.2	+	4	656	c.585G>A	c.(583-585)ccG>ccA	p.P195P	TPRG1L_ENST00000344579.5_Silent_p.P136P|RP11-46F15.2_ENST00000435049.1_RNA	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	195						cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|synaptic vesicle (GO:0008021)		p.P195P(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		CAGAACACCCGATGGCTGGCG	0.532																																						uc001akm.2		NaN																	1	Substitution - coding silent(1)		lung(1)		0						c.(583-585)CCG>CCA		tumor protein p63 regulated 1-like							142.0	143.0	143.0					1																	3544178		2203	4300	6503	SO:0001819	synonymous_variant	127262					cell junction|synaptic vesicle		g.chr1:3544178G>A	BC019034	CCDS47.1	1p36.32	2008-02-05	2008-01-16	2008-01-16	ENSG00000158109	ENSG00000158109			27007	protein-coding gene	gene with protein product		611460	"""family with sequence similarity 79, member A"""	FAM79A		12477932	Standard	NM_182752		Approved	RP11-46F15.3, FLJ21811	uc001akm.3	Q5T0D9	OTTHUMG00000000609	ENST00000378344.2:c.585G>A	1.37:g.3544178G>A						TPRG1L_uc009vlj.2_Silent_p.P136P	p.P195P	NM_182752	NP_877429	Q5T0D9	TPRGL_HUMAN		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)	4	666	+	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	195					A8K1K4|Q8WV04	Silent	SNP	ENST00000378344.2	37	c.585G>A	CCDS47.1																																																																																				0.532	TPRG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001466.1		NM_182752		17	161	0	0	0	0.007413	0	17	161		
CHD5	26038	broad.mit.edu	37	1	6196893	6196893	+	Silent	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:6196893G>C	ENST00000262450.3	-	16	2568	c.2469C>G	c.(2467-2469)ctC>ctG	p.L823L	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CATAGGAGGTGAGCAGCACGT	0.567																																						uc001amb.1		NaN																	0				central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(2467-2469)CTC>CTG		chromodomain helicase DNA binding protein 5							79.0	78.0	78.0					1																	6196893		2203	4300	6503	SO:0001819	synonymous_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6196893G>C	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2469C>G	1.37:g.6196893G>C						CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	p.L823L	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	16	2569	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	823			Helicase ATP-binding.		A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.2469C>G	CCDS57.1																																																																																				0.567	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2		NM_015557		28	41	0	0	0	0.004289	0	28	41		
PRDM2	7799	broad.mit.edu	37	1	14075874	14075874	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:14075874G>A	ENST00000235372.7	+	6	1259	c.403G>A	c.(403-405)Gag>Aag	p.E135K	PRDM2_ENST00000311066.5_Missense_Mutation_p.E135K|PRDM2_ENST00000343137.4_5'Flank|PRDM2_ENST00000503842.1_5'Flank|PRDM2_ENST00000505823.1_5'Flank|PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000413440.1_5'Flank|PRDM2_ENST00000376048.5_Missense_Mutation_p.E135K	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	135	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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)		GCCGGGCGAGGAGCTCCTGGT	0.687																																						uc001avi.2		NaN																	0				ovary(1)	1						c.(403-405)GAG>AAG		retinoblastoma protein-binding zinc finger							14.0	17.0	16.0					1																	14075874		2191	4287	6478	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.chr1:14075874G>A	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.403G>A	1.37:g.14075874G>A	ENSP00000235372:p.Glu135Lys					PRDM2_uc001avg.2_Missense_Mutation_p.E135K|PRDM2_uc001avh.2_Missense_Mutation_p.E135K|PRDM2_uc001avj.2_RNA|PRDM2_uc009vod.1_5'UTR|PRDM2_uc001avk.2_5'UTR|PRDM2_uc009voe.2_RNA|PRDM2_uc009vof.2_RNA	p.E135K	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)	6	1259	+	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)	135			SET.		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.403G>A	CCDS150.1	.	.	.	.	.	.	.	.	.	.	g	35	5.571018	0.96553	.	.	ENSG00000116731	ENST00000484063;ENST00000376048;ENST00000235372;ENST00000311066;ENST00000400800	D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5	3.69	3.69	0.42338	SET domain (3);	0.059130	0.64402	D	0.000003	D	0.97269	0.9107	M	0.93808	3.46	0.52501	D	0.999959	D;D;P	0.54964	0.969;0.962;0.602	P;P;P	0.58970	0.849;0.766;0.617	D	0.97972	1.0344	10	0.72032	D	0.01	.	13.321	0.60432	0.0:0.0:1.0:0.0	.	135;135;135	Q13029;Q13029-2;B1AJZ4	PRDM2_HUMAN;.;.	K	126;135;135;135;135	ENSP00000423010:E126K;ENSP00000365216:E135K;ENSP00000235372:E135K;ENSP00000312352:E135K	ENSP00000235372:E135K	E	+	1	0	PRDM2	13948461	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.498000	0.81546	2.043000	0.60533	0.645000	0.84053	GAG		0.687	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2		NM_012231		5	37	0	0	0	0.000602	0	5	37		
UBR4	23352	broad.mit.edu	37	1	19528304	19528304	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:19528304G>A	ENST00000375254.3	-	2	209	c.182C>T	c.(181-183)tCa>tTa	p.S61L	UBR4_ENST00000375217.2_Missense_Mutation_p.S61L|UBR4_ENST00000375226.2_Missense_Mutation_p.S61L|UBR4_ENST00000375267.2_Missense_Mutation_p.S61L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	61					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGGATTTCTGATTCACTGTA	0.368																																						uc001bbi.2		NaN																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(181-183)TCA>TTA		retinoblastoma-associated factor 600							120.0	107.0	111.0					1																	19528304		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19528304G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.182C>T	1.37:g.19528304G>A	ENSP00000364403:p.Ser61Leu						p.S61L	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	2	186	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	61					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.182C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640157	0.67244	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.64	5.64	0.86602	.	0.068514	0.64402	D	0.000010	T	0.23014	0.0556	L	0.29908	0.895	0.80722	D	1	B	0.26935	0.164	B	0.21917	0.037	T	0.02345	-1.1173	10	0.54805	T	0.06	.	18.6399	0.91392	0.0:0.0:1.0:0.0	.	61	Q5T4S7	UBR4_HUMAN	L	61	ENSP00000364403:S61L;ENSP00000364416:S61L;ENSP00000364365:S61L;ENSP00000364374:S61L	ENSP00000364365:S61L	S	-	2	0	UBR4	19400891	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.859000	0.86982	2.820000	0.97059	0.650000	0.86243	TCA		0.368	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		NM_020765		6	48	0	0	0	0.001984	0	6	48		
PQLC2	54896	broad.mit.edu	37	1	19653762	19653762	+	Silent	SNP	C	C	T	rs139194294	byFrequency	TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:19653762C>T	ENST00000375153.3	+	7	1300	c.660C>T	c.(658-660)ttC>ttT	p.F220F	PQLC2_ENST00000400548.2_Silent_p.F155F|PQLC2_ENST00000375155.3_Silent_p.F220F	NM_001040125.1	NP_001035214.1	Q6ZP29	LAAT1_HUMAN	PQ loop repeat containing 2	220	PQ-loop 2.				amino acid homeostasis (GO:0080144)|arginine transport (GO:0015809)|lysine transport (GO:0015819)	integral component of organelle membrane (GO:0031301)|lysosomal membrane (GO:0005765)	arginine transmembrane transporter activity (GO:0015181)|basic amino acid transmembrane transporter activity (GO:0015174)|L-lysine transmembrane transporter activity (GO:0015189)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCTCTGTTCGCGCTGGTGA	0.617																																						uc001bby.2		NaN																	0					0						c.(658-660)TTC>TTT		PQ loop repeat containing 2 isoform 1		C	,,	0,4406		0,0,2203	76.0	73.0	74.0		660,465,660	-3.6	0.6	1	dbSNP_134	74	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	PQLC2	NM_001040125.1,NM_001040126.1,NM_017765.2	,,	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	,,	220/292,155/227,220/292	19653762	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	54896					integral to membrane		g.chr1:19653762C>T	BC015324	CCDS195.2, CCDS30618.1	1p36.13	2013-10-11			ENSG00000040487	ENSG00000040487			26001	protein-coding gene	gene with protein product		614760				23169667	Standard	XM_005245915		Approved	FLJ20320	uc001bby.3	Q6ZP29	OTTHUMG00000002521	ENST00000375153.3:c.660C>T	1.37:g.19653762C>T						PQLC2_uc001bbz.2_Silent_p.F155F|PQLC2_uc001bca.2_Silent_p.F220F|PQLC2_uc001bcb.2_Silent_p.F109F|PQLC2_uc001bcc.2_Silent_p.F109F	p.F220F	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	8	1012	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	220			PQ-loop 2.|Helical; (Potential).		B3KWQ5|Q6ZMJ3|Q6ZP27|Q9NXC7	Silent	SNP	ENST00000375153.3	37	c.660C>T	CCDS195.2																																																																																				0.617	PQLC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007255.1		NM_017765		51	69	0	0	0	0.01441	0	51	69		
HNRNPR	10236	broad.mit.edu	37	1	23648144	23648144	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:23648144C>T	ENST00000374612.1	-	7	811	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	HNRNPR_ENST00000374616.3_Missense_Mutation_p.E230K|HNRNPR_ENST00000606561.1_Missense_Mutation_p.E91K|HNRNPR_ENST00000426846.2_Missense_Mutation_p.E70K|HNRNPR_ENST00000302271.6_Missense_Mutation_p.E230K|HNRNPR_ENST00000478691.1_Missense_Mutation_p.E129K|HNRNPR_ENST00000427764.2_Missense_Mutation_p.E192K	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	230	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GGGCGAATTTCATAGCTGTCA	0.383																																						uc001bgr.3		NaN																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(688-690)GAA>AAA		heterogeneous nuclear ribonucleoprotein R							106.0	112.0	110.0					1																	23648144		2203	4300	6503	SO:0001583	missense	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23648144C>T	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.688G>A	1.37:g.23648144C>T	ENSP00000363741:p.Glu230Lys					HNRNPR_uc001bgp.3_Missense_Mutation_p.E230K|HNRNPR_uc009vqk.2_Missense_Mutation_p.E129K|HNRNPR_uc001bgs.3_Missense_Mutation_p.E129K|HNRNPR_uc010odw.1_Missense_Mutation_p.E192K|HNRNPR_uc010odx.1_Missense_Mutation_p.E70K|HNRNPR_uc009vql.2_Missense_Mutation_p.E91K	p.E230K	NM_005826	NP_005817	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	7	847	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	230			RRM 1.		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	ENST00000374612.1	37	c.688G>A	CCDS232.1	.	.	.	.	.	.	.	.	.	.	C	36	5.639090	0.96693	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.69	4.87	4.87	0.63330	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.37461	0.1004	L	0.52206	1.635	0.80722	D	1	D;D;D;D;P;D	0.76494	0.99;0.999;0.999;0.972;0.901;0.966	D;D;D;P;P;P	0.87578	0.913;0.998;0.998;0.836;0.613;0.747	T	0.09164	-1.0687	10	0.62326	D	0.03	-5.2096	16.9396	0.86213	0.0:1.0:0.0:0.0	.	70;192;91;207;230;230	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	K	230;230;230;192;70	ENSP00000363745:E230K;ENSP00000363741:E230K;ENSP00000304405:E230K;ENSP00000392799:E192K;ENSP00000415042:E70K	ENSP00000304405:E230K	E	-	1	0	HNRNPR	23520731	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.669000	0.83911	2.430000	0.82344	0.561000	0.74099	GAA		0.383	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1		NM_005826		78	92	0	0	0	0.01441	0	78	92		
ASAP3	55616	broad.mit.edu	37	1	23767922	23767922	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:23767922G>A	ENST00000336689.3	-	9	836	c.792C>T	c.(790-792)ctC>ctT	p.L264L	ASAP3_ENST00000437606.2_Silent_p.L255L	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	264					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GGGAGTCCCGGAGCTGGGTCA	0.597																																						uc001bha.2		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(790-792)CTC>CTT		ArfGAP with SH3 domain, ankyrin repeat and PH							47.0	49.0	48.0					1																	23767922		2203	4300	6503	SO:0001819	synonymous_variant	55616				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	g.chr1:23767922G>A	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	14987	protein-coding gene	gene with protein product	"""centaurin, beta 6"""		"""development and differentiation enhancing factor-like 1"""	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.792C>T	1.37:g.23767922G>A						ASAP3_uc010odz.1_Silent_p.L133L|ASAP3_uc010oea.1_Silent_p.L255L|ASAP3_uc001bhb.2_5'Flank	p.L264L	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN			9	916	-			264			Potential.		B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Silent	SNP	ENST00000336689.3	37	c.792C>T	CCDS235.1																																																																																				0.597	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2		NM_017707		11	22	0	0	0	0.003163	0	11	22		
CSMD2	114784	broad.mit.edu	37	1	34042907	34042907	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:34042907G>A	ENST00000373381.4	-	49	7741	c.7565C>T	c.(7564-7566)cCt>cTt	p.P2522L		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2524	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTGACAGAGAGGGATGGCTTC	0.577																																						uc001bxn.1		NaN																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(7570-7572)CCT>CTT		CUB and Sushi multiple domains 2							72.0	70.0	70.0					1																	34042907		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34042907G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7565C>T	1.37:g.34042907G>A	ENSP00000362479:p.Pro2522Leu					CSMD2_uc001bxm.1_Missense_Mutation_p.P2522L	p.P2524L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			50	7600	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2524			Sushi 14.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.7571C>T		.	.	.	.	.	.	.	.	.	.	G	29.4	5.003444	0.93287	.	.	ENSG00000121904	ENST00000373381	T	0.77358	-1.09	5.45	5.45	0.79879	Complement control module (2);Sushi/SCR/CCP (3);	0.067800	0.64402	D	0.000010	D	0.93416	0.7900	H	0.98901	4.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95945	0.8950	10	0.87932	D	0	.	18.2782	0.90089	0.0:0.0:1.0:0.0	.	2524;2522	Q7Z408;E7EUA6	CSMD2_HUMAN;.	L	2522	ENSP00000362479:P2522L	ENSP00000241312:P2524L	P	-	2	0	CSMD2	33815494	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.820000	0.99359	2.569000	0.86673	0.563000	0.77884	CCT		0.577	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_052896		47	61	0	0	0	0.01441	0	47	61		
AGO3	192669	broad.mit.edu	37	1	36520571	36520571	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:36520571C>T	ENST00000373191.4	+	18	2648	c.2299C>T	c.(2299-2301)Cat>Tat	p.H767Y	AGO3_ENST00000246314.6_Missense_Mutation_p.H533Y|AGO3_ENST00000471099.1_3'UTR	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	767	Piwi. {ECO:0000255|HAMAP-Rule:MF_03032}.				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)										TTCACACTATCATGTTTTATG	0.388																																						uc001bzp.2		NaN																	0					0						c.(2299-2301)CAT>TAT		eukaryotic translation initiation factor 2C, 3							204.0	163.0	177.0					1																	36520571		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.chr1:36520571C>T	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.2299C>T	1.37:g.36520571C>T	ENSP00000362287:p.His767Tyr					EIF2C3_uc001bzq.2_Missense_Mutation_p.H533Y	p.H767Y	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN			18	2555	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	767			Piwi.		B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	c.2299C>T	CCDS399.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000628	0.54254	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.32023	1.47;1.47	5.7	5.7	0.88788	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.35941	0.0949	L	0.50993	1.605	0.80722	D	1	B	0.09022	0.002	B	0.26969	0.075	T	0.07501	-1.0769	10	0.45353	T	0.12	-5.0209	19.8389	0.96675	0.0:1.0:0.0:0.0	.	767	Q9H9G7	AGO3_HUMAN	Y	767;533	ENSP00000362287:H767Y;ENSP00000246314:H533Y	ENSP00000246314:H533Y	H	+	1	0	EIF2C3	36293158	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.757000	0.85209	2.703000	0.92315	0.655000	0.94253	CAT		0.388	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4		NM_024852		46	84	0	0	0	0.01441	0	46	84		
AGO3	192669	broad.mit.edu	37	1	36520721	36520721	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:36520721C>T	ENST00000373191.4	+	18	2798	c.2449C>T	c.(2449-2451)Cat>Tat	p.H817Y	AGO3_ENST00000246314.6_Missense_Mutation_p.H583Y|AGO3_ENST00000471099.1_3'UTR	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	817	Piwi. {ECO:0000255|HAMAP-Rule:MF_03032}.				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)										AGCCAGATATCATCTTGTGGA	0.423																																						uc001bzp.2		NaN																	0					0						c.(2449-2451)CAT>TAT		eukaryotic translation initiation factor 2C, 3							88.0	72.0	77.0					1																	36520721		2203	4299	6502	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.chr1:36520721C>T	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.2449C>T	1.37:g.36520721C>T	ENSP00000362287:p.His817Tyr					EIF2C3_uc001bzq.2_Missense_Mutation_p.H583Y	p.H817Y	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN			18	2705	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	817			Piwi.		B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	c.2449C>T	CCDS399.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226282	0.39300	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.29397	1.57;1.57	5.7	5.7	0.88788	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.36826	0.0981	N	0.21448	0.665	0.80722	D	1	P	0.35628	0.513	P	0.51777	0.679	T	0.03043	-1.1079	10	0.09084	T	0.74	-42.3114	19.8389	0.96675	0.0:1.0:0.0:0.0	.	817	Q9H9G7	AGO3_HUMAN	Y	817;583	ENSP00000362287:H817Y;ENSP00000246314:H583Y	ENSP00000246314:H583Y	H	+	1	0	EIF2C3	36293308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.731000	0.84895	2.703000	0.92315	0.655000	0.94253	CAT		0.423	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4		NM_024852		3	11	0	0	0	0.000602	0	3	11		
MANEAL	149175	broad.mit.edu	37	1	38265848	38265848	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:38265848C>T	ENST00000373045.6	+	4	1728	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	MANEAL_ENST00000397631.3_3'UTR|RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000525897.1_Silent_p.I255I|MANEAL_ENST00000329006.5_Silent_p.I227I	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	449						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGCACTTCATCAAAGAGAAGG	0.582																																						uc001cby.2		NaN																	0					0						c.(1345-1347)ATC>ATT		mannosidase, endo-alpha-like isoform 3							47.0	52.0	50.0					1																	38265848		2192	4288	6480	SO:0001819	synonymous_variant	149175					Golgi membrane|integral to membrane	hydrolase activity	g.chr1:38265848C>T	AK055996	CCDS426.1, CCDS44110.1, CCDS44111.1	1p34.3	2008-02-05			ENSG00000185090	ENSG00000185090			26452	protein-coding gene	gene with protein product							Standard	NM_152496		Approved	FLJ31434	uc001cby.2	Q5VSG8	OTTHUMG00000004317	ENST00000373045.6:c.1347C>T	1.37:g.38265848C>T						MANEAL_uc001cbx.2_3'UTR|MANEAL_uc001cbz.2_Silent_p.I227I	p.I449I	NM_001113482	NP_001106954	Q5VSG8	MANEL_HUMAN			4	1428	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	449			Lumenal (Potential).		Q6DD86|Q6P497|Q8N5P8|Q96G55|Q96N42	Silent	SNP	ENST00000373045.6	37	c.1347C>T	CCDS44110.1																																																																																				0.582	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012469.2		NM_152496		35	59	0	0	0	0.007835	0	35	59		
ERMAP	114625	broad.mit.edu	37	1	43296669	43296669	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:43296669G>A	ENST00000372517.2	+	4	560	c.316G>A	c.(316-318)Gag>Aag	p.E106K	ERMAP_ENST00000487556.1_Intron|ERMAP_ENST00000328249.3_Missense_Mutation_p.E16K|ERMAP_ENST00000372514.3_Missense_Mutation_p.E106K	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	106	Ig-like V-type.		DAQEGSVTLQI -> CPRGKCHSADP (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)				AGATGCCCAAGAGGGAAGTGT	0.532																																						uc001cic.1		NaN																	0				ovary(1)	1						c.(316-318)GAG>AAG		erythroblast membrane-associated protein							146.0	124.0	131.0					1																	43296669		2203	4300	6503	SO:0001583	missense	114625					integral to membrane|plasma membrane		g.chr1:43296669G>A	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.316G>A	1.37:g.43296669G>A	ENSP00000361595:p.Glu106Lys					ERMAP_uc010ojw.1_Missense_Mutation_p.E167K|ERMAP_uc001cid.1_Intron|ERMAP_uc001cie.1_Missense_Mutation_p.E106K|ERMAP_uc001cif.1_Missense_Mutation_p.E16K	p.E106K	NM_001017922	NP_001017922	Q96PL5	ERMAP_HUMAN			4	586	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	106		DAQEGSVTLQI -> CPRGKCHSADP (in Sc-3 allele).	Ig-like V-type.|Extracellular (Potential).		D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	Missense_Mutation	SNP	ENST00000372517.2	37	c.316G>A	CCDS475.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425689	0.62733	.	.	ENSG00000164010	ENST00000372517;ENST00000372514;ENST00000328249	T;T;T	0.63580	-0.05;-0.05;-0.05	4.95	3.07	0.35406	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.216404	0.30840	N	0.008767	T	0.47135	0.1429	N	0.25426	0.745	0.09310	N	1	P;P	0.43578	0.529;0.811	B;B	0.43838	0.289;0.433	T	0.28299	-1.0048	10	0.31617	T	0.26	.	6.6979	0.23209	0.2154:0.0:0.7846:0.0	.	167;106	B7Z3C6;Q96PL5	.;ERMAP_HUMAN	K	106;106;16	ENSP00000361595:E106K;ENSP00000361592:E106K;ENSP00000332439:E16K	ENSP00000332439:E16K	E	+	1	0	ERMAP	43069256	0.293000	0.24371	0.060000	0.19600	0.832000	0.47134	0.603000	0.24149	0.670000	0.31165	0.557000	0.71058	GAG		0.532	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020180.1		NM_018538		5	67	0	0	0	0.001984	0	5	67		
NASP	4678	broad.mit.edu	37	1	46080036	46080036	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:46080036C>A	ENST00000350030.3	+	9	1751	c.1664C>A	c.(1663-1665)tCt>tAt	p.S555Y	NASP_ENST00000402363.3_Missense_Mutation_p.S557Y|NASP_ENST00000530073.1_3'UTR|NASP_ENST00000372052.4_Missense_Mutation_p.S189Y|NASP_ENST00000537798.1_Missense_Mutation_p.S491Y|NASP_ENST00000351223.3_Missense_Mutation_p.S216Y	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	555	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AGTGTTGAATCTGGTAATGCA	0.378																																						uc001coi.1		NaN																	0				ovary(1)	1						c.(1663-1665)TCT>TAT		nuclear autoantigenic sperm protein isoform 2							69.0	67.0	67.0					1																	46080036		2203	4300	6503	SO:0001583	missense	4678				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding	g.chr1:46080036C>A	M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.1664C>A	1.37:g.46080036C>A	ENSP00000255120:p.Ser555Tyr					NASP_uc001coh.1_Missense_Mutation_p.S557Y|NASP_uc001coj.1_Missense_Mutation_p.S216Y|NASP_uc010olr.1_Missense_Mutation_p.S491Y|NASP_uc001col.1_Missense_Mutation_p.S63Y	p.S555Y	NM_002482	NP_002473	P49321	NASP_HUMAN			9	1766	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)		555			TPR 2.|Glu-rich (acidic).		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	ENST00000350030.3	37	c.1664C>A	CCDS524.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.0|27.0	4.793110|4.793110	0.90453|0.90453	.|.	.|.	ENSG00000132780|ENSG00000132780	ENST00000531612|ENST00000437901;ENST00000537798;ENST00000402363;ENST00000341288;ENST00000528238;ENST00000350030;ENST00000372052;ENST00000351223	.|T;T;T;T;T;T;T	.|0.74106	.|-0.81;0.87;0.87;0.87;0.87;-0.03;-0.81	5.57|5.57	5.57|5.57	0.84162|0.84162	.|Tetratricopeptide-like helical (1);Tetratricopeptide, SHNi-TPR domain (1);Tetratricopeptide repeat-containing (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88062|0.88062	0.6336|0.6336	M|M	0.83012|0.83012	2.62|2.62	0.80722|0.80722	D|D	1|1	.|D;D;D;P	.|0.76494	.|0.966;0.999;0.999;0.813	.|P;D;D;P	.|0.85130	.|0.872;0.981;0.997;0.694	D|D	0.88885|0.88885	0.3342|0.3342	5|10	.|0.87932	.|D	.|0	-6.6425|-6.6425	19.9193|19.9193	0.97079|0.97079	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|491;216;555;557	.|F5H3J2;Q5T626;P49321;P49321-3	.|.;.;NASP_HUMAN;.	M|Y	80|216;491;557;455;152;555;189;216	.|ENSP00000400792:S216Y;ENSP00000438871:S491Y;ENSP00000384529:S557Y;ENSP00000432289:S152Y;ENSP00000255120:S555Y;ENSP00000361122:S189Y;ENSP00000255121:S216Y	.|ENSP00000345532:S455Y	L|S	+|+	1|2	2|0	NASP|NASP	45852623|45852623	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	5.682000|5.682000	0.68182|0.68182	2.784000|2.784000	0.95788|0.95788	0.549000|0.549000	0.68633|0.68633	CTG|TCT		0.378	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2		NM_002482		25	42	1	0	9.65021e-13	0.010818	1.02374e-12	25	42		
PRKACB	5567	broad.mit.edu	37	1	84668421	84668421	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:84668421C>T	ENST00000370689.2	+	8	962	c.698C>T	c.(697-699)gCa>gTa	p.A233V	PRKACB_ENST00000370680.1_Missense_Mutation_p.A239V|PRKACB_ENST00000394839.2_Missense_Mutation_p.A203V|PRKACB_ENST00000370682.3_Missense_Mutation_p.A237V|PRKACB_ENST00000370685.3_Missense_Mutation_p.A280V|PRKACB_ENST00000370688.3_Missense_Mutation_p.A233V|PRKACB_ENST00000394838.2_Missense_Mutation_p.A240V	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			A -> V (in Ref. 3; CAI56774). {ECO:0000305}.	activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|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)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TATGAAATGGCAGCTGGCTAT	0.373																																						uc001djj.2		NaN																	0				lung(2)|ovary(1)	3						c.(697-699)GCA>GTA		cAMP-dependent protein kinase catalytic subunit							151.0	146.0	148.0					1																	84668421		2203	4300	6503	SO:0001583	missense	5567				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding	g.chr1:84668421C>T	BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.698C>T	1.37:g.84668421C>T	ENSP00000359723:p.Ala233Val					PRKACB_uc001djl.2_Missense_Mutation_p.A280V|PRKACB_uc010ort.1_Missense_Mutation_p.A240V|PRKACB_uc001djn.2_Missense_Mutation_p.A237V|PRKACB_uc010oru.1_Missense_Mutation_p.A221V|PRKACB_uc001djp.2_Missense_Mutation_p.A239V|PRKACB_uc001djq.2_Missense_Mutation_p.A203V|PRKACB_uc010orv.1_Missense_Mutation_p.A220V|PRKACB_uc001dji.2_Missense_Mutation_p.A233V|PRKACB_uc001djk.2_Missense_Mutation_p.A280V|PRKACB_uc009wcf.1_Missense_Mutation_p.A239V	p.A233V	NM_002731	NP_002722	P22694	KAPCB_HUMAN		all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)	8	962	+			233	A -> V (in Ref. 3; CAI56774).		Protein kinase.		B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Missense_Mutation	SNP	ENST00000370689.2	37	c.698C>T	CCDS691.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824592	0.71143	.	.	ENSG00000142875	ENST00000370689;ENST00000370688;ENST00000370685;ENST00000370684;ENST00000394838;ENST00000370682;ENST00000370679;ENST00000370680;ENST00000394839;ENST00000370681	T;T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.54	5.54	0.83059	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045029	0.85682	D	0.000000	T	0.59756	0.2217	N	0.16862	0.45	0.80722	D	1	D;B;B;B;B;B;B;B;B;D;B	0.76494	0.999;0.001;0.002;0.001;0.001;0.002;0.001;0.014;0.003;0.999;0.0	D;B;B;B;B;B;B;B;B;D;B	0.78314	0.991;0.002;0.005;0.005;0.013;0.003;0.006;0.01;0.011;0.991;0.002	T	0.58601	-0.7608	10	0.30078	T	0.28	-15.904	19.8568	0.96762	0.0:1.0:0.0:0.0	.	233;221;240;239;203;239;237;280;280;233;233	B2RB89;P22694-3;B4DKB0;B1APG3;B1APG4;P22694-6;P22694-7;P22694-2;B4E2L0;P22694;P22694-8	.;.;.;.;.;.;.;.;.;KAPCB_HUMAN;.	V	233;233;280;221;240;237;239;239;203;195	ENSP00000359723:A233V;ENSP00000359722:A233V;ENSP00000359719:A280V;ENSP00000359718:A221V;ENSP00000378314:A240V;ENSP00000359716:A237V;ENSP00000359714:A239V;ENSP00000378315:A203V	ENSP00000359713:A239V	A	+	2	0	PRKACB	84441009	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.729000	0.84864	2.764000	0.94973	0.650000	0.86243	GCA		0.373	PRKACB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027641.1		NM_182948		15	193	0	0	0	0.007413	0	15	193		
CLCA2	9635	broad.mit.edu	37	1	86921014	86921014	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:86921014C>T	ENST00000370565.4	+	14	2798	c.2636C>T	c.(2635-2637)tCt>tTt	p.S879F		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	879					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TCTGCTGTATCTAACATTGCC	0.423																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	uc001dlr.3		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(2635-2637)TCT>TTT		chloride channel accessory 2 precursor							193.0	193.0	193.0					1																	86921014		2203	4300	6503	SO:0001583	missense	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86921014C>T		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.2636C>T	1.37:g.86921014C>T	ENSP00000359596:p.Ser879Phe						p.S879F	NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	14	2798	+		Lung NSC(277;0.238)	879			Extracellular (Potential).		A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	c.2636C>T	CCDS708.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512589	0.64522	.	.	ENSG00000137975	ENST00000370565	T	0.11385	2.78	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	M	0.80847	2.515	0.53688	D	0.99997	D	0.76494	0.999	D	0.85130	0.997	T	0.06463	-1.0825	10	0.87932	D	0	-22.2205	19.2435	0.93893	0.0:1.0:0.0:0.0	.	879	Q9UQC9	CLCA2_HUMAN	F	879	ENSP00000359596:S879F	ENSP00000359596:S879F	S	+	2	0	CLCA2	86693602	0.998000	0.40836	0.966000	0.40874	0.326000	0.28443	4.860000	0.62961	2.660000	0.90430	0.591000	0.81541	TCT		0.423	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1		NM_006536		21	275	0	0	0	0.007291	0	21	275		
PTBP2	58155	broad.mit.edu	37	1	97278831	97278831	+	Splice_Site	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:97278831G>C	ENST00000426398.2	+	14	1509		c.e14-1		PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370197.1_Missense_Mutation_p.R495T|PTBP2_ENST00000394184.3_Missense_Mutation_p.R506T|PTBP2_ENST00000609116.1_Missense_Mutation_p.R490T|PTBP2_ENST00000370198.1_Splice_Site|PTBP2_ENST00000541987.1_Splice_Site	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2						mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.?(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TGTTTCAGAAGAGATCACAAA	0.323																																						uc001drq.2		NaN																	1	Unknown(1)		lung(1)		0						c.e14-1		polypyrimidine tract binding protein 2							56.0	64.0	61.0					1																	97278831		2203	4300	6503	SO:0001630	splice_region_variant	58155						nucleotide binding	g.chr1:97278831G>C	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.1467-1G>C	1.37:g.97278831G>C						PTBP2_uc001drn.2_Missense_Mutation_p.R495T|PTBP2_uc001dro.2_Missense_Mutation_p.R490T|PTBP2_uc010otz.1_Missense_Mutation_p.R506T|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Missense_Mutation_p.R438T|PTBP2_uc001drr.2_Splice_Site_p.Q494_splice|PTBP2_uc010oua.1_Missense_Mutation_p.R498T|PTBP2_uc001dru.2_Splice_Site|PTBP2_uc001drs.1_Missense_Mutation_p.R109T|PTBP2_uc001drt.2_Splice_Site_p.Q108_splice	p.Q489_splice	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	14	1713	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)						Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Splice_Site	SNP	ENST00000426398.2	37	c.1467_splice	CCDS754.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.91|18.91	3.724315|3.724315	0.68959|0.68959	.|.	.|.	ENSG00000117569|ENSG00000117569	ENST00000370198;ENST00000426398|ENST00000236228;ENST00000543738;ENST00000370197;ENST00000394184	.|T;T;T	.|0.07908	.|3.15;3.15;3.15	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.055638	.|0.64402	.|D	.|0.000001	.|T	.|0.08802	.|0.0218	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B	.|0.28378	.|0.026;0.068;0.009;0.048;0.209	.|B;B;B;B;B	.|0.36922	.|0.063;0.043;0.003;0.037;0.236	.|T	.|0.06391	.|-1.0829	.|9	.|0.87932	.|D	.|0	.|.	19.7532|19.7532	0.96277|0.96277	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|498;506;162;490;495	.|B4DSU5;B4DSS8;B4DSI2;Q9UKA9-2;Q9UKA9-3	.|.;.;.;.;.	.|T	-1|490;162;495;506	.|ENSP00000236228:R490T;ENSP00000359216:R495T;ENSP00000377738:R506T	.|ENSP00000236228:R490T	.|R	+|+	.|2	.|0	PTBP2|PTBP2	97051419|97051419	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.590000|6.590000	0.74085|0.74085	2.734000|2.734000	0.93682|0.93682	0.650000|0.650000	0.86243|0.86243	.|AGA		0.323	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1			Intron	3	53	0	0	0	0.009096	0	3	53		
STXBP3	6814	broad.mit.edu	37	1	109339242	109339242	+	Splice_Site	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:109339242G>T	ENST00000370008.3	+	15	1300	c.1250G>T	c.(1249-1251)gGa>gTa	p.G417V		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	417					blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		CCTATTTAAGGAACTACGGAA	0.338																																						uc001dvy.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(1249-1251)GGA>GTA		syntaxin binding protein 3							106.0	105.0	105.0					1																	109339242		2203	4299	6502	SO:0001630	splice_region_variant	6814				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding	g.chr1:109339242G>T	D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.1250-1G>T	1.37:g.109339242G>T						STXBP3_uc001dvz.2_RNA	p.G417V	NM_007269	NP_009200	O00186	STXB3_HUMAN		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)	15	1325	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	417					A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	ENST00000370008.3	37	c.1250G>T	CCDS790.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321618	0.81580	.	.	ENSG00000116266	ENST00000370008	D	0.84370	-1.84	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.92890	0.7738	M	0.90309	3.105	0.80722	D	1	D	0.58268	0.982	D	0.63488	0.915	D	0.93758	0.7064	10	0.72032	D	0.01	.	19.2519	0.93929	0.0:0.0:1.0:0.0	.	417	O00186	STXB3_HUMAN	V	417	ENSP00000359025:G417V	ENSP00000359025:G417V	G	+	2	0	STXBP3	109140765	1.000000	0.71417	0.992000	0.48379	0.812000	0.45895	8.602000	0.90868	2.548000	0.85928	0.467000	0.42956	GGA		0.338	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1		NM_007269	Missense_Mutation	26	27	1	0	1.68575e-08	0.007291	1.75581e-08	26	27		
AMIGO1	57463	broad.mit.edu	37	1	110050083	110050083	+	Silent	SNP	C	C	T	rs543279248		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:110050083C>T	ENST00000369864.4	-	2	1801	c.1452G>A	c.(1450-1452)tcG>tcA	p.S484S	AMIGO1_ENST00000369862.1_Silent_p.S484S					adhesion molecule with Ig-like domain 1											autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CAGAGAAGACCGAGCTGACTG	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		20791	0.0		0.0	False		,,,				2504	0.001					uc001dxx.3		NaN																	0				ovary(1)|breast(1)	2						c.(1450-1452)TCG>TCA		AMIGO protein precursor							147.0	127.0	134.0					1																	110050083		2203	4300	6503	SO:0001819	synonymous_variant	57463				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane		g.chr1:110050083C>T		CCDS30795.1	1p13.3	2013-01-11			ENSG00000181754	ENSG00000181754		"""Immunoglobulin superfamily / V-set domain containing"""	20824	protein-coding gene	gene with protein product	"""amphoterin-induced gene and open reading frame"""	615689				12629050	Standard	NM_020703		Approved	AMIGO, KIAA1163	uc001dxx.4	Q86WK6	OTTHUMG00000011653	ENST00000369864.4:c.1452G>A	1.37:g.110050083C>T							p.S484S	NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)	2	1834	-		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	484			Cytoplasmic (Potential).			Silent	SNP	ENST00000369864.4	37	c.1452G>A	CCDS30795.1																																																																																				0.582	AMIGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032247.1		NM_020703		16	214	0	0	0	0.008871	0	16	214		
DDX20	11218	broad.mit.edu	37	1	112298569	112298569	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:112298569C>T	ENST00000369702.4	+	1	643	c.23C>T	c.(22-24)tCg>tTg	p.S8L	FAM212B_ENST00000412270.1_5'Flank|DDX20_ENST00000536167.1_Missense_Mutation_p.S8L|FAM212B_ENST00000444059.2_5'Flank	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	8					ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTGAAGCCTCGGGAGCCTTA	0.632																																						uc001ebs.2		NaN																	0				lung(1)|kidney(1)	2						c.(22-24)TCG>TTG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 20							12.0	13.0	13.0					1																	112298569		2163	4277	6440	SO:0001583	missense	11218				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding	g.chr1:112298569C>T	AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.23C>T	1.37:g.112298569C>T	ENSP00000358716:p.Ser8Leu					C1orf183_uc001ebp.1_5'Flank|uc001ebr.2_5'Flank|DDX20_uc010owf.1_5'UTR	p.S8L	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	380	+		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)	8					B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	37	c.23C>T	CCDS842.1	.	.	.	.	.	.	.	.	.	.	c	12.41	1.928856	0.34002	.	.	ENSG00000064703	ENST00000369702;ENST00000536167	T;T	0.34275	1.37;1.52	4.64	-2.5	0.06384	.	45.711000	0.00166	N	0.000016	T	0.05868	0.0153	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14783	-1.0460	10	0.25106	T	0.35	-30.2335	6.9502	0.24540	0.0:0.433:0.3386:0.2284	.	8	Q9UHI6	DDX20_HUMAN	L	8	ENSP00000358716:S8L;ENSP00000439026:S8L	ENSP00000358716:S8L	S	+	2	0	DDX20	112100092	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.394000	0.20834	-0.924000	0.03780	-2.073000	0.00383	TCG		0.632	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2		NM_007204		13	29	0	0	0	0.004007	0	13	29		
TTF2	8458	broad.mit.edu	37	1	117633952	117633952	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:117633952C>G	ENST00000369466.4	+	16	2635	c.2591C>G	c.(2590-2592)tCa>tGa	p.S864*		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	864					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TGAGGCAGGTCAGCTCTGCAA	0.393																																						uc001egy.2		NaN																	0				ovary(1)	1						c.(2590-2592)TCA>TGA		transcription termination factor, RNA polymerase							92.0	98.0	96.0					1																	117633952		2203	4300	6503	SO:0001587	stop_gained	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117633952C>G	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.2591C>G	1.37:g.117633952C>G	ENSP00000358478:p.Ser864*						p.S864*	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	16	2611	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	864					A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Nonsense_Mutation	SNP	ENST00000369466.4	37	c.2591C>G	CCDS892.1	.	.	.	.	.	.	.	.	.	.	C	40	8.396503	0.98794	.	.	ENSG00000116830	ENST00000369466	.	.	.	5.95	4.09	0.47781	.	0.263383	0.20361	N	0.093848	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-4.293	10.7527	0.46219	0.0:0.8456:0.0:0.1544	.	.	.	.	X	864	.	ENSP00000358478:S864X	S	+	2	0	TTF2	117435475	0.998000	0.40836	1.000000	0.80357	0.974000	0.67602	2.657000	0.46724	0.854000	0.35336	0.655000	0.94253	TCA		0.393	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3				42	77	0	0	0	0.013114	0	42	77		
NBPF8	728841	broad.mit.edu	37	1	144220816	144220816	+	Missense_Mutation	SNP	A	A	G	rs587673408	byFrequency	TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:144220816A>G	ENST00000369373.5	+	2	83	c.83A>G	c.(82-84)gAg>gGg	p.E28G				Q3BBV2	NBPF8_HUMAN	neuroblastoma breakpoint family, member 8	668						cytoplasm (GO:0005737)											GATGAGAAAGAGCCTGAAGTC	0.483													.|||	167	0.0333466	0.1097	0.0115	5008	,	,		50002	0.001		0.006	False		,,,				2504	0.0072					uc010oxr.1		NaN																	0					0						c.(2188-2190)GAG>GGG		hypothetical protein LOC400818																																				SO:0001583	missense	400818					cytoplasm		g.chr1:144220816A>G	AY894572		1q21.1	2014-04-01	2013-04-24	2013-04-24	ENSG00000162825	ENSG00000162825		"""neuroblastoma breakpoint family"""	31990	protein-coding gene	gene with protein product		613998	"""neuroblastoma breakpoint family, member 8, pseudogene"""	NBPF8P		16079250	Standard	NM_001037501		Approved			Q3BBV2	OTTHUMG00000074805	ENST00000369373.5:c.83A>G	1.37:g.144220816A>G	ENSP00000358380:p.Glu28Gly					NBPF9_uc010oxn.1_Missense_Mutation_p.E601G|NBPF9_uc010oxo.1_Intron|NBPF9_uc010oxt.1_Missense_Mutation_p.E518G|NBPF9_uc001ekg.1_Missense_Mutation_p.E30G|NBPF9_uc001ekk.1_Missense_Mutation_p.E274G|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Missense_Mutation_p.E30G|uc010oxz.1_Missense_Mutation_p.E518G	p.E730G	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN			19	2193	+			703			NBPF 5.			Missense_Mutation	SNP	ENST00000369373.5	37	c.2189A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	8.213|8.213	0.800676|0.800676	0.16397|0.16397	.|.	.|.	ENSG00000162825|ENSG00000162825	ENST00000369373|ENST00000369365	T|.	0.15603|.	2.41|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39835|.	0.1093|.	.|.	.|.	.|.	.|.	.|.	.|.	B;B;.;B;B|.	0.23316|.	0.0;0.001;.;0.083;0.002|.	B;B;.;B;B|.	0.34038|.	0.0;0.003;.;0.174;0.011|.	T|.	0.29610|.	-1.0006|.	3|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	434;30;601;376;443|.	Q5VTG8;A8K9F1;B4DG53;Q8IX72;Q5TB04|.	.;.;.;.;.|.	G|G	28|3579	ENSP00000358380:E28G|.	.|.	E|S	+|+	2|1	0|0	RP3-377D14.1|RP3-377D14.1	142932173|142932173	0.724000|0.724000	0.28038|0.28038	.|.	.|.	.|.	.|.	0.868000|0.868000	0.27982|0.27982	.|.	.|.	.|.	.|.	GAG|AGC		0.483	NBPF8-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding					5	278	0	0	0	0.001984	0	5	278		
NBPF10	100132406	broad.mit.edu	37	1	145360624	145360624	+	Silent	SNP	G	G	A	rs189250898		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:145360624G>A	ENST00000342960.5	+	74	9284	c.9249G>A	c.(9247-9249)tcG>tcA	p.S3083S	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	641						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.S3083S(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGTTATTCGACTCCTTCAG	0.478																																						uc001end.3		NaN																	2	Substitution - coding silent(2)		endometrium(1)|central_nervous_system(1)		0						c.(9472-9474)TCG>TCA		hypothetical protein LOC100132406																																				SO:0001819	synonymous_variant	100132406							g.chr1:145360624G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.9249G>A	1.37:g.145360624G>A						NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc010oyq.1_Intron|NBPF10_uc010oyr.1_Silent_p.S456S	p.S3158S	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	76	9509	+	all_hematologic(923;0.032)		3083					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.9474G>A	CCDS53355.1																																																																																				0.478	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001039703		8	24	0	0	0	0.004482	0	8	24		
HRNR	388697	broad.mit.edu	37	1	152190860	152190860	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:152190860G>A	ENST00000368801.2	-	3	3320	c.3245C>T	c.(3244-3246)aCa>aTa	p.T1082I	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1082					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)			CTGTCCTGATGTAGAACCGTG	0.552																																						uc001ezt.1		NaN																	0				skin(2)|ovary(1)	3						c.(3244-3246)ACA>ATA		hornerin							307.0	334.0	325.0					1																	152190860		2197	4300	6497	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152190860G>A	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.3245C>T	1.37:g.152190860G>A	ENSP00000357791:p.Thr1082Ile						p.T1082I	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3321	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1082			12.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.3245C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	2.774	-0.254965	0.05829	.	.	ENSG00000197915	ENST00000368801	T	0.04809	3.55	4.04	-8.08	0.01094	.	.	.	.	.	T	0.00967	0.0032	L	0.36672	1.1	0.09310	N	1	P	0.45126	0.851	B	0.35688	0.208	T	0.04103	-1.0977	9	0.41790	T	0.15	.	10.7115	0.45986	0.0:0.1684:0.4978:0.3337	.	1082	Q86YZ3	HORN_HUMAN	I	1082	ENSP00000357791:T1082I	ENSP00000357791:T1082I	T	-	2	0	HRNR	150457484	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.537000	0.00438	-3.356000	0.00180	-0.564000	0.04169	ACA		0.552	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1		XM_373868		197	517	0	0	0	0.01441	0	197	517		
LCE1D	353134	broad.mit.edu	37	1	152770489	152770489	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:152770489G>A	ENST00000326233.6	+	2	262	c.219G>A	c.(217-219)ctG>ctA	p.L73L		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	73	Cys-rich.				cellular response to calcium ion (GO:0071277)|cognition (GO:0050890)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGCTGCCTGAGCCACCACA	0.711																																						uc009wnp.2		NaN																	0					0						c.(217-219)CTG>CTA		late cornified envelope 1D							19.0	23.0	22.0					1																	152770489		2027	3742	5769	SO:0001819	synonymous_variant	353134				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm		g.chr1:152770489G>A		CCDS1025.1	1q21.3	2008-02-05			ENSG00000172155	ENSG00000172155		"""Late cornified envelopes"""	29465	protein-coding gene	gene with protein product		612606				11698679	Standard	NM_178352		Approved	LEP4	uc009wnp.3	Q5T752	OTTHUMG00000012444	ENST00000326233.6:c.219G>A	1.37:g.152770489G>A							p.L73L	NM_178352	NP_848129	Q5T752	LCE1D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	262	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		73			Cys-rich.			Silent	SNP	ENST00000326233.6	37	c.219G>A	CCDS1025.1																																																																																				0.711	LCE1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034657.2		NM_178352		8	22	0	0	0	0.00308	0	8	22		
LCE1D	353134	broad.mit.edu	37	1	152770614	152770614	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:152770614G>A	ENST00000326233.6	+	2	387	c.344G>A	c.(343-345)tGa>tAa	p.*115*		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	0					cellular response to calcium ion (GO:0071277)|cognition (GO:0050890)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCTGCTGCTGAAGTGGACCT	0.602																																						uc009wnp.2		NaN																	0					0						c.(343-345)TGA>TAA		late cornified envelope 1D							35.0	33.0	34.0					1																	152770614		2011	3738	5749	SO:0001819	synonymous_variant	353134				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm		g.chr1:152770614G>A		CCDS1025.1	1q21.3	2008-02-05			ENSG00000172155	ENSG00000172155		"""Late cornified envelopes"""	29465	protein-coding gene	gene with protein product		612606				11698679	Standard	NM_178352		Approved	LEP4	uc009wnp.3	Q5T752	OTTHUMG00000012444	ENST00000326233.6:c.344G>A	1.37:g.152770614G>A							p.*115*	NM_178352	NP_848129	Q5T752	LCE1D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	387	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		115						Silent	SNP	ENST00000326233.6	37	c.344G>A	CCDS1025.1																																																																																				0.602	LCE1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034657.2		NM_178352		39	2	0	0	0	0.01441	0	39	2		
SLC27A3	11000	broad.mit.edu	37	1	153745426	153745426	+	5'Flank	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:153745426G>A	ENST00000368661.3	+	0	0				INTS3_ENST00000456435.1_Missense_Mutation_p.E834K|SLC27A3_ENST00000271857.2_5'Flank|INTS3_ENST00000435409.2_Missense_Mutation_p.E974K|INTS3_ENST00000318967.2_Missense_Mutation_p.E974K|INTS3_ENST00000512605.1_Missense_Mutation_p.E834K|INTS3_ENST00000476843.1_3'UTR	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3						fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTCCCTGGCGGAGGAATATGA	0.572																																						uc009wom.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(2920-2922)GAG>AAG		integrator complex subunit 3							74.0	81.0	79.0					1																	153745426		2203	4300	6503	SO:0001631	upstream_gene_variant	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153745426G>A	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155		1.37:g.153745426G>A	Exception_encountered					INTS3_uc001fct.2_Missense_Mutation_p.E974K|INTS3_uc001fcu.2_Missense_Mutation_p.E666K|INTS3_uc001fcv.2_Missense_Mutation_p.E768K|INTS3_uc010peb.1_Missense_Mutation_p.E834K|INTS3_uc001fcw.2_Missense_Mutation_p.E487K|INTS3_uc010pec.1_Missense_Mutation_p.E487K|INTS3_uc001fcy.2_Missense_Mutation_p.E337K|INTS3_uc001fcx.2_Missense_Mutation_p.E271K	p.E974K	NM_023015	NP_075391	Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		30	3141	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		975					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	ENST00000368661.3	37	c.2920G>A	CCDS1053.1	.	.	.	.	.	.	.	.	.	.	G	32	5.106912	0.94292	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.59418	0.2192	L	0.55481	1.735	0.31784	N	0.630477	D;P;D	0.56035	0.974;0.956;0.974	D;P;D	0.70487	0.969;0.899;0.953	T	0.60606	-0.7230	9	0.54805	T	0.06	.	15.2825	0.73797	0.0:0.0:1.0:0.0	.	834;975;974	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	K	974;834;974;834	.	ENSP00000318641:E974K	E	+	1	0	INTS3	152012050	1.000000	0.71417	0.959000	0.39883	0.974000	0.67602	8.559000	0.90708	2.677000	0.91161	0.561000	0.74099	GAG		0.572	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_024330		17	138	0	0	0	0.006122	0	17	138		
ADAR	103	broad.mit.edu	37	1	154557296	154557296	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:154557296G>C	ENST00000368474.4	-	15	3866	c.3667C>G	c.(3667-3669)Ctc>Gtc	p.L1223V	ADAR_ENST00000292205.5_Missense_Mutation_p.L1266V|ADAR_ENST00000368471.3_Missense_Mutation_p.L928V	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1223					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		ACTGGGCAGAGATAAAAGTTC	0.483																																						uc001ffh.2		NaN																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(3667-3669)CTC>GTC		adenosine deaminase, RNA-specific isoform a							116.0	116.0	116.0					1																	154557296		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154557296G>C	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.3667C>G	1.37:g.154557296G>C	ENSP00000357459:p.Leu1223Val					ADAR_uc001ffj.2_Missense_Mutation_p.L1178V|ADAR_uc001ffi.2_Missense_Mutation_p.L1197V|ADAR_uc001ffk.2_Missense_Mutation_p.L928V	p.L1223V	NM_001111	NP_001102	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	15	3867	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		1223					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.3667C>G	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341399	0.60963	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.18502	2.31;2.35;2.21;2.4	4.76	3.85	0.44370	.	0.593148	0.18058	N	0.153055	T	0.17450	0.0419	L	0.49571	1.57	0.31955	N	0.609135	P;P;D	0.69078	0.89;0.663;0.997	B;B;D	0.72625	0.396;0.206;0.978	T	0.04029	-1.0983	10	0.41790	T	0.15	-23.263	6.4579	0.21940	0.0748:0.1293:0.6626:0.1334	.	1178;1197;1223	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	V	1266;1223;928;1192	ENSP00000292205:L1266V;ENSP00000357459:L1223V;ENSP00000357456:L928V;ENSP00000431794:L1192V	ENSP00000292205:L1266V	L	-	1	0	ADAR	152823920	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.989000	0.56958	1.371000	0.46172	0.655000	0.94253	CTC		0.483	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2		NM_001111		71	190	0	0	0	0.01441	0	71	190		
ADAR	103	broad.mit.edu	37	1	154571024	154571024	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:154571024G>A	ENST00000368474.4	-	3	1838	c.1639C>T	c.(1639-1641)Ccc>Tcc	p.P547S	ADAR_ENST00000292205.5_Missense_Mutation_p.P590S|ADAR_ENST00000368471.3_Missense_Mutation_p.P252S	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	547	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCAGCTGGGGGAAACTCTCGG	0.473																																						uc001ffh.2		NaN																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(1639-1641)CCC>TCC		adenosine deaminase, RNA-specific isoform a							145.0	135.0	139.0					1																	154571024		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154571024G>A	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.1639C>T	1.37:g.154571024G>A	ENSP00000357459:p.Pro547Ser					ADAR_uc001ffj.2_Missense_Mutation_p.P547S|ADAR_uc001ffi.2_Missense_Mutation_p.P547S|ADAR_uc001ffk.2_Missense_Mutation_p.P252S	p.P547S	NM_001111	NP_001102	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	3	1839	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		547			DRBM 1.		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.1639C>T	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.817660	0.90790	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	4.95	4.95	0.65309	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.75852	0.3906	N	0.25647	0.755	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.79738	-0.1677	10	0.72032	D	0.01	-24.0266	18.4057	0.90535	0.0:0.0:1.0:0.0	.	547;547;547	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	S	590;547;252;542	ENSP00000292205:P590S;ENSP00000357459:P547S;ENSP00000357456:P252S;ENSP00000431794:P542S	ENSP00000292205:P590S	P	-	1	0	ADAR	152837648	1.000000	0.71417	0.994000	0.49952	0.999000	0.98932	8.404000	0.90210	2.576000	0.86940	0.655000	0.94253	CCC		0.473	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2		NM_001111		12	167	0	0	0	0.00245	0	12	167		
KIRREL	55243	broad.mit.edu	37	1	158061194	158061194	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:158061194G>A	ENST00000359209.6	+	11	1386	c.1319G>A	c.(1318-1320)cGc>cAc	p.R440H	KIRREL_ENST00000360089.4_Missense_Mutation_p.R276H|KIRREL_ENST00000368173.3_Missense_Mutation_p.R456H|KIRREL_ENST00000368172.1_Missense_Mutation_p.R254H|KIRREL_ENST00000392272.2_Missense_Mutation_p.R337H|KIRREL_ENST00000416935.2_Missense_Mutation_p.R340H			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	440	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)					ACCCTGGAACGCTATACAGTG	0.567																																						uc001frn.3		NaN																	0				ovary(1)	1						c.(1318-1320)CGC>CAC		kin of IRRE like precursor							117.0	111.0	113.0					1																	158061194		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158061194G>A	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.1319G>A	1.37:g.158061194G>A	ENSP00000352138:p.Arg440His					KIRREL_uc010pib.1_Missense_Mutation_p.R340H|KIRREL_uc009wsq.2_Missense_Mutation_p.R276H|KIRREL_uc001fro.3_Missense_Mutation_p.R254H	p.R440H	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN			11	1723	+	all_hematologic(112;0.0378)		440			Ig-like C2-type 5.|Extracellular (Potential).		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.1319G>A	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	G	32	5.137912	0.94517	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.51574	4.12;4.12;0.7;4.12;0.7;0.7	5.13	5.13	0.70059	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39210	N	0.001428	T	0.65354	0.2683	M	0.82056	2.57	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;0.999;0.998;0.999	T	0.68949	-0.5274	10	0.59425	D	0.04	-25.4807	16.4324	0.83853	0.0:0.0:1.0:0.0	.	340;276;254;440	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	H	276;456;337;440;340;254	ENSP00000353202:R276H;ENSP00000357155:R456H;ENSP00000376098:R337H;ENSP00000352138:R440H;ENSP00000389674:R340H;ENSP00000357154:R254H	ENSP00000352138:R440H	R	+	2	0	KIRREL	156327818	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	9.700000	0.98707	2.539000	0.85634	0.563000	0.77884	CGC		0.567	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3		NM_018240		41	120	0	0	0	0.006999	0	41	120		
OR6Y1	391112	broad.mit.edu	37	1	158517192	158517192	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:158517192G>A	ENST00000302617.3	-	1	703	c.704C>T	c.(703-705)tCt>tTt	p.S235F		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GCCCTGAGCAGAAGGGATCCT	0.522																																						uc010pil.1		NaN																	0				ovary(1)	1						c.(703-705)TCT>TTT		olfactory receptor, family 6, subfamily Y,							129.0	127.0	128.0					1																	158517192		2202	4300	6502	SO:0001583	missense	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517192G>A	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.704C>T	1.37:g.158517192G>A	ENSP00000304807:p.Ser235Phe						p.S235F	NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN			1	704	-	all_hematologic(112;0.0378)		235			Cytoplasmic (Potential).		Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	c.704C>T	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866359	0.51588	.	.	ENSG00000197532	ENST00000302617	T	0.00340	8.04	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40818	N	0.001019	T	0.00695	0.0023	M	0.94063	3.49	0.09310	N	1	D	0.76494	0.999	D	0.71870	0.975	T	0.30995	-0.9959	10	0.87932	D	0	.	17.9765	0.89129	0.0:0.0:1.0:0.0	.	235	Q8NGX8	OR6Y1_HUMAN	F	235	ENSP00000304807:S235F	ENSP00000304807:S235F	S	-	2	0	OR6Y1	156783816	0.968000	0.33430	0.902000	0.35471	0.810000	0.45777	4.735000	0.62051	2.763000	0.94921	0.655000	0.94253	TCT		0.522	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1		NM_001005189		55	95	0	0	0	0.01441	0	55	95		
OR10J1	26476	broad.mit.edu	37	1	159409658	159409658	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:159409658C>T	ENST00000423932.3	+	1	147	c.110C>T	c.(109-111)aCc>aTc	p.T37I	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	37					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CAGCAGATCACCCTTTTTGGC	0.418																																						uc010piv.1		NaN																	0				ovary(1)	1						c.(109-111)ACC>ATC		olfactory receptor, family 10, subfamily J,							216.0	199.0	205.0					1																	159409658		2203	4300	6503	SO:0001583	missense	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159409658C>T	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.110C>T	1.37:g.159409658C>T	ENSP00000399078:p.Thr37Ile					uc001fts.3_Intron	p.T37I	NM_012351	NP_036483	P30954	O10J1_HUMAN			1	110	+	all_hematologic(112;0.0429)		37			Helical; Name=1; (Potential).		Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	c.110C>T	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	C	3.265	-0.150261	0.06585	.	.	ENSG00000196184	ENST00000423932	T	0.00414	7.52	4.35	3.42	0.39159	.	0.954059	0.08607	N	0.920523	T	0.00073	0.0002	N	0.02420	-0.555	0.09310	N	0.999999	B	0.11235	0.004	B	0.12837	0.008	T	0.00915	-1.1516	10	0.14252	T	0.57	.	12.3226	0.54993	0.0:0.8281:0.1719:0.0	.	37	P30954	O10J1_HUMAN	I	37	ENSP00000399078:T37I	ENSP00000399078:T37I	T	+	2	0	OR10J1	157676282	0.000000	0.05858	0.024000	0.17045	0.217000	0.24651	-0.180000	0.09754	1.133000	0.42147	0.563000	0.77884	ACC		0.418	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1		NM_012351		177	124	0	0	0	0.01441	0	177	124		
IGSF9	57549	broad.mit.edu	37	1	159897219	159897219	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:159897219G>A	ENST00000368094.1	-	21	3653	c.3456C>T	c.(3454-3456)ttC>ttT	p.F1152F	IGSF9_ENST00000361509.3_Silent_p.F1136F|TAGLN2_ENST00000368097.4_5'Flank|IGSF9_ENST00000493195.1_5'UTR|TAGLN2_ENST00000478033.1_5'Flank|TAGLN2_ENST00000320307.4_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1152					dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGCGGCGGCGGAAGGCCAGGA	0.632																																						uc001fur.2		NaN																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)	5						c.(3454-3456)TTC>TTT		immunoglobulin superfamily, member 9 isoform a							46.0	50.0	49.0					1																	159897219		2203	4299	6502	SO:0001819	synonymous_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159897219G>A	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.3456C>T	1.37:g.159897219G>A						IGSF9_uc001fuq.2_Silent_p.F1136F|CCDC19_uc001ful.2_5'Flank|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc001fuo.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Silent_p.F298F	p.F1152F	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		21	3654	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	1152			Cytoplasmic (Potential).			Silent	SNP	ENST00000368094.1	37	c.3456C>T	CCDS44254.1																																																																																				0.632	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1		NM_020789		46	106	0	0	0	0.01441	0	46	106		
BLZF1	8548	broad.mit.edu	37	1	169345923	169345923	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:169345923G>C	ENST00000367808.3	+	3	597	c.174G>C	c.(172-174)gaG>gaC	p.E58D	BLZF1_ENST00000367807.3_Missense_Mutation_p.E58D|BLZF1_ENST00000329281.2_Missense_Mutation_p.E58D			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	58					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					TTCCATCAGAGAGCCCAGGAG	0.413																																						uc001gfx.1		NaN																	0				skin(1)	1						c.(172-174)GAG>GAC		basic leucine zipper nuclear factor 1							98.0	104.0	102.0					1																	169345923		2203	4300	6503	SO:0001583	missense	8548				cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr1:169345923G>C	U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.174G>C	1.37:g.169345923G>C	ENSP00000356782:p.Glu58Asp					BLZF1_uc001gfw.2_Missense_Mutation_p.E58D|BLZF1_uc001gfy.2_Missense_Mutation_p.E58D|BLZF1_uc009wvp.1_Missense_Mutation_p.E35D	p.E58D	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN			3	611	+	all_hematologic(923;0.208)		58					O15298|Q5T531|Q5T533|Q9GZX4	Missense_Mutation	SNP	ENST00000367808.3	37	c.174G>C	CCDS1278.1	.	.	.	.	.	.	.	.	.	.	G	8.845	0.943106	0.18281	.	.	ENSG00000117475	ENST00000367808;ENST00000329281;ENST00000367807;ENST00000420531;ENST00000426663	T;T;T;T;T	0.46063	1.44;1.44;0.88;0.89;1.44	4.79	-0.544	0.11847	.	0.552921	0.20062	N	0.100072	T	0.04770	0.0129	N	0.11560	0.145	0.18873	N	0.999985	B;B;B	0.11235	0.001;0.001;0.004	B;B;B	0.13407	0.003;0.003;0.009	T	0.30679	-0.9970	9	0.12103	T	0.63	-6.9629	1.3008	0.02078	0.288:0.2601:0.3256:0.1264	.	58;58;58	A8K6R0;Q9H2G9;Q9H2G9-2	.;GO45_HUMAN;.	D	58	ENSP00000356782:E58D;ENSP00000327541:E58D;ENSP00000356781:E58D;ENSP00000414668:E58D;ENSP00000404408:E58D	ENSP00000327541:E58D	E	+	3	2	BLZF1	167612547	0.951000	0.32395	0.881000	0.34555	0.985000	0.73830	0.369000	0.20416	-0.257000	0.09459	-0.218000	0.12543	GAG		0.413	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086109.1		NM_003666		20	83	0	0	0	0.014323	0	20	83		
BLZF1	8548	broad.mit.edu	37	1	169346158	169346158	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:169346158G>C	ENST00000367808.3	+	3	832	c.409G>C	c.(409-411)Gaa>Caa	p.E137Q	BLZF1_ENST00000367807.3_Missense_Mutation_p.E137Q|BLZF1_ENST00000329281.2_Missense_Mutation_p.E137Q			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	137					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					CAAGAATTCTGAAAGAAGGTT	0.383																																						uc001gfx.1		NaN																	0				skin(1)	1						c.(409-411)GAA>CAA		basic leucine zipper nuclear factor 1							50.0	51.0	51.0					1																	169346158		2164	4276	6440	SO:0001583	missense	8548				cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr1:169346158G>C	U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.409G>C	1.37:g.169346158G>C	ENSP00000356782:p.Glu137Gln					BLZF1_uc001gfw.2_Missense_Mutation_p.E137Q|BLZF1_uc001gfy.2_Missense_Mutation_p.E137Q|BLZF1_uc009wvp.1_Missense_Mutation_p.E114Q	p.E137Q	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN			3	846	+	all_hematologic(923;0.208)		137			Potential.		O15298|Q5T531|Q5T533|Q9GZX4	Missense_Mutation	SNP	ENST00000367808.3	37	c.409G>C	CCDS1278.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845343	0.91197	.	.	ENSG00000117475	ENST00000367808;ENST00000329281;ENST00000367807;ENST00000426663	T;T;T;T	0.63255	1.87;1.87;-0.03;1.87	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.74726	0.3754	M	0.76002	2.32	0.49798	D	0.999828	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	T	0.72340	-0.4323	9	0.33940	T	0.23	-23.2714	18.8791	0.92350	0.0:0.0:1.0:0.0	.	137;137;137	A8K6R0;Q9H2G9;Q9H2G9-2	.;GO45_HUMAN;.	Q	137	ENSP00000356782:E137Q;ENSP00000327541:E137Q;ENSP00000356781:E137Q;ENSP00000404408:E137Q	ENSP00000327541:E137Q	E	+	1	0	BLZF1	167612782	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.277000	0.95755	2.450000	0.82876	0.655000	0.94253	GAA		0.383	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086109.1		NM_003666		25	49	0	0	0	0.010818	0	25	49		
SCYL3	57147	broad.mit.edu	37	1	169825055	169825055	+	Silent	SNP	C	C	T	rs75739679	byFrequency	TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:169825055C>T	ENST00000367770.1	-	11	1403	c.1356G>A	c.(1354-1356)tcG>tcA	p.S452S	SCYL3_ENST00000367772.4_Silent_p.S452S|SCYL3_ENST00000367771.6_Intron			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	452					cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCAAGATTGGCGAGATCTGAC	0.428													C|||	4	0.000798722	0.003	0.0	5008	,	,		20153	0.0		0.0	False		,,,				2504	0.0					uc001ggs.2		NaN																	0				ovary(1)|skin(1)	2						c.(1354-1356)TCG>TCA		SCY1-like 3 isoform 2		C	,	2,4404	4.2+/-10.8	0,2,2201	93.0	85.0	88.0		,1356	-5.4	0.0	1	dbSNP_133	88	0,8600		0,0,4300	no	intron,coding-synonymous	SCYL3	NM_020423.5,NM_181093.2	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	,452/743	169825055	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169825055C>T	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.1356G>A	1.37:g.169825055C>T						SCYL3_uc010plw.1_Intron|SCYL3_uc001ggt.2_Intron|SCYL3_uc001ggu.2_Intron	p.S452S	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN			12	1554	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		452					A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Silent	SNP	ENST00000367770.1	37	c.1356G>A	CCDS1287.1																																																																																				0.428	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4		NM_181093		4	133	0	0	0	0.000602	0	4	133		
TPR	7175	broad.mit.edu	37	1	186326652	186326652	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:186326652G>A	ENST00000367478.4	-	14	1897	c.1601C>T	c.(1600-1602)tCa>tTa	p.S534L	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	534					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)		TAGATGCTGTGATATTACCTC	0.403			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.(1600-1602)TCA>TTA		nuclear pore complex-associated protein TPR							139.0	127.0	131.0					1																	186326652		1850	4095	5945	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.chr1:186326652G>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.1601C>T	1.37:g.186326652G>A	ENSP00000356448:p.Ser534Leu					TPR_uc010pop.1_Missense_Mutation_p.S610L	p.S534L	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	14	1898	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	534			Potential.		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.1601C>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830565	0.71258	.	.	ENSG00000047410	ENST00000367478	T	0.31769	1.48	5.39	5.39	0.77823	.	0.188183	0.48286	D	0.000200	T	0.45337	0.1337	M	0.75615	2.305	0.46078	D	0.998852	P;P	0.46395	0.877;0.842	P;B	0.46049	0.502;0.254	T	0.51188	-0.8737	10	0.87932	D	0	.	19.4987	0.95085	0.0:0.0:1.0:0.0	.	534;534	Q15624;P12270	.;TPR_HUMAN	L	534	ENSP00000356448:S534L	ENSP00000356448:S534L	S	-	2	0	TPR	184593275	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.921000	0.75805	2.685000	0.91497	0.591000	0.81541	TCA		0.403	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2		NM_003292		44	83	0	0	0	0.013114	0	44	83		
CFH	3075	broad.mit.edu	37	1	196643008	196643008	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:196643008G>C	ENST00000359637.2	+	3	328	c.266G>C	c.(265-267)gGa>gCa	p.G89A	CFH_ENST00000367429.4_Missense_Mutation_p.G89A|CFH_ENST00000439155.2_Missense_Mutation_p.G89A			P08603	CFAH_HUMAN	complement factor H	153	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGACATCCTGGAGATACTCCT	0.363																																						uc001gtj.3		NaN																	0				skin(4)|ovary(1)|breast(1)	6						c.(265-267)GGA>GCA		complement factor H isoform a precursor							151.0	158.0	155.0					1																	196643008		2203	4299	6502	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196643008G>C	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.266G>C	1.37:g.196643008G>C	ENSP00000352658:p.Gly89Ala					CFH_uc001gti.3_Missense_Mutation_p.G89A|CFH_uc009wyw.2_Missense_Mutation_p.G89A|CFH_uc009wyx.2_Missense_Mutation_p.G89A	p.G89A	NM_000186	NP_000177	P08603	CFAH_HUMAN			3	506	+			89			Sushi 2.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.266G>C		.	.	.	.	.	.	.	.	.	.	G	18.45	3.626087	0.66901	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.64438	-0.1;-0.1;-0.1	5.37	5.37	0.77165	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.76997	0.4066	M	0.77616	2.38	0.35564	D	0.804933	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;0.998;1.0;0.982	T	0.77907	-0.2412	9	0.15952	T	0.53	.	14.6062	0.68481	0.0:0.0:1.0:0.0	.	89;89;89;89	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	A	89	ENSP00000356399:G89A;ENSP00000402656:G89A;ENSP00000352658:G89A	ENSP00000352658:G89A	G	+	2	0	CFH	194909631	1.000000	0.71417	0.991000	0.47740	0.860000	0.49131	6.130000	0.71663	2.527000	0.85204	0.655000	0.94253	GGA		0.363	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1		NM_000186		13	199	0	0	0	0.004007	0	13	199		
LAD1	3898	broad.mit.edu	37	1	201351425	201351425	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:201351425C>G	ENST00000391967.2	-	9	1804	c.1503G>C	c.(1501-1503)gaG>gaC	p.E501D	LAD1_ENST00000488842.1_5'Flank|LAD1_ENST00000367313.3_Missense_Mutation_p.E515D	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	501						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						ACTGAGTCCTCTCGGTTGCAG	0.607																																						uc001gwm.2		NaN																	0					0						c.(1501-1503)GAG>GAC		ladinin 1							213.0	174.0	188.0					1																	201351425		2203	4300	6503	SO:0001583	missense	3898					basement membrane	structural molecule activity	g.chr1:201351425C>G	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.1503G>C	1.37:g.201351425C>G	ENSP00000375829:p.Glu501Asp						p.E501D	NM_005558	NP_005549	O00515	LAD1_HUMAN			9	1738	-			501					O95614|Q96GD8	Missense_Mutation	SNP	ENST00000391967.2	37	c.1503G>C	CCDS1410.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121601	0.37436	.	.	ENSG00000159166	ENST00000503578;ENST00000391967;ENST00000367313	T;T;T	0.45668	0.89;2.74;2.71	4.12	2.14	0.27477	.	1.095410	0.07103	N	0.840795	T	0.26412	0.0645	N	0.08118	0	0.19575	N	0.999968	B	0.15141	0.012	B	0.08055	0.003	T	0.29640	-1.0005	10	0.72032	D	0.01	-7.1064	10.5212	0.44920	0.0:0.5756:0.4244:0.0	.	501	O00515	LAD1_HUMAN	D	152;501;515	ENSP00000422687:E152D;ENSP00000375829:E501D;ENSP00000356282:E515D	ENSP00000356282:E515D	E	-	3	2	LAD1	199618048	0.217000	0.23597	0.650000	0.29550	0.036000	0.12997	0.237000	0.17985	0.447000	0.26695	-0.311000	0.09066	GAG		0.607	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1		NM_005558		107	59	0	0	0	0.01441	0	107	59		
ATP2B4	493	broad.mit.edu	37	1	203676348	203676348	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:203676348G>A	ENST00000357681.5	+	9	2434	c.1311G>A	c.(1309-1311)gtG>gtA	p.V437V	ATP2B4_ENST00000367219.3_Silent_p.V425V|ATP2B4_ENST00000367218.3_Silent_p.V437V|ATP2B4_ENST00000391954.2_Silent_p.V437V|ATP2B4_ENST00000341360.2_Silent_p.V437V	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	437					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)			CCTACTCTGTGAAGGTGAGAC	0.468																																						uc001gzw.2		NaN																	0				ovary(2)|skin(1)	3						c.(1309-1311)GTG>GTA		plasma membrane calcium ATPase 4 isoform 4b							85.0	77.0	80.0					1																	203676348		2203	4300	6503	SO:0001819	synonymous_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203676348G>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.1311G>A	1.37:g.203676348G>A						ATP2B4_uc001gzv.2_Silent_p.V437V|ATP2B4_uc009xaq.2_Silent_p.V437V	p.V437V	NM_001684	NP_001675	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		9	2195	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		437			Cytoplasmic (Potential).		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Silent	SNP	ENST00000357681.5	37	c.1311G>A	CCDS1440.1																																																																																				0.468	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1		NM_001001396		7	115	0	0	0	0.001984	0	7	115		
PIGR	5284	broad.mit.edu	37	1	207112588	207112588	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:207112588C>T	ENST00000356495.4	-	3	447	c.264G>A	c.(262-264)ccG>ccA	p.P88P		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	88	Ig-like V-type 1.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)	p.P88P(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGCCGTTCTCCGGGAAGTTGG	0.592																																						uc001hez.2		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(262-264)CCG>CCA		polymeric immunoglobulin receptor precursor							104.0	80.0	88.0					1																	207112588		2203	4300	6503	SO:0001819	synonymous_variant	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207112588C>T		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.264G>A	1.37:g.207112588C>T						PIGR_uc009xbz.2_Silent_p.P88P	p.P88P	NM_002644	NP_002635	P01833	PIGR_HUMAN			3	448	-			88			Ig-like V-type 1.|Extracellular (Potential).		Q68D81|Q8IZY7	Silent	SNP	ENST00000356495.4	37	c.264G>A	CCDS1474.1																																																																																				0.592	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1		NM_002644		4	91	0	0	0	0.009096	0	4	91		
NSL1	25936	broad.mit.edu	37	1	212911828	212911828	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:212911828C>T	ENST00000366977.3	-	6	786	c.768G>A	c.(766-768)ctG>ctA	p.L256L	NSL1_ENST00000366976.1_3'UTR|NSL1_ENST00000366975.6_Silent_p.L215L|NSL1_ENST00000422588.2_3'UTR|NSL1_ENST00000366978.1_Intron	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	256					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		GCTTTCTTTTCAGTACCATGT	0.398																																						uc001hjn.2		NaN																	0				skin(1)	1						c.(766-768)CTG>CTA		NSL1, MIND kinetochore complex component isoform							166.0	164.0	165.0					1																	212911828		2203	4300	6503	SO:0001819	synonymous_variant	25936				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr1:212911828C>T	AF255793	CCDS1509.1, CCDS73025.1	1q41	2013-07-03	2013-07-03	2006-11-07	ENSG00000117697	ENSG00000117697			24548	protein-coding gene	gene with protein product		609174	"""chromosome 1 open reading frame 48"", ""NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C1orf48		20819937	Standard	NM_015471		Approved	DC8, DKFZP566O1646, MIS14	uc001hjn.3	Q96IY1	OTTHUMG00000036806	ENST00000366977.3:c.768G>A	1.37:g.212911828C>T						NSL1_uc001hjm.2_3'UTR|NSL1_uc010pti.1_Silent_p.L215L	p.L256L	NM_015471	NP_056286	Q96IY1	NSL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)	6	802	-			256					E7ETD5|Q5SY75|Q9H2M5|Q9NRN8|Q9Y415	Silent	SNP	ENST00000366977.3	37	c.768G>A	CCDS1509.1																																																																																				0.398	NSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089398.2		NM_015471		20	176	0	0	0	0.005443	0	20	176		
EPRS	2058	broad.mit.edu	37	1	220174523	220174523	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:220174523G>T	ENST00000366923.3	-	17	2407	c.2138C>A	c.(2137-2139)tCa>tAa	p.S713*		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	713	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	CTTTGACCCTGATGTTGGCAT	0.373																																						uc001hly.1		NaN																	0				ovary(1)|skin(1)	2						c.(2137-2139)TCA>TAA		glutamyl-prolyl tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						165.0	148.0	154.0					1																	220174523		2203	4300	6503	SO:0001587	stop_gained	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220174523G>T	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.2138C>A	1.37:g.220174523G>T	ENSP00000355890:p.Ser713*					EPRS_uc010puf.1_Nonsense_Mutation_p.S464*|EPRS_uc001hlz.1_Nonsense_Mutation_p.S720*|EPRS_uc009xdt.1_Nonsense_Mutation_p.S301*	p.S713*	NM_004446	NP_004437	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	17	2408	-			713			Glutamyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Nonsense_Mutation	SNP	ENST00000366923.3	37	c.2138C>A	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	G	42	9.289695	0.99127	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	.	.	.	5.49	3.62	0.41486	.	0.219509	0.48286	D	0.000182	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4615	11.9077	0.52721	0.1395:0.0:0.8605:0.0	.	.	.	.	X	713;720;737	.	ENSP00000355890:S713X	S	-	2	0	EPRS	218241146	1.000000	0.71417	0.985000	0.45067	0.944000	0.59088	4.815000	0.62634	0.698000	0.31739	0.563000	0.77884	TCA		0.373	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2		NM_004446		29	65	1	0	2.81731e-10	0.010818	2.95744e-10	29	65		
NSUN6	221078	broad.mit.edu	37	10	18840786	18840786	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr10:18840786G>T	ENST00000377304.4	-	9	1455	c.1037C>A	c.(1036-1038)tCa>tAa	p.S346*	NSUN6_ENST00000493816.1_5'Flank	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	346							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TGGCTGATATGATGCCACTTC	0.428																																						uc010qcp.1		NaN																	0				ovary(2)	2						c.(1036-1038)TCA>TAA		NOL1/NOP2/Sun domain family, member 6							184.0	149.0	161.0					10																	18840786		2203	4300	6503	SO:0001587	stop_gained	221078						methyltransferase activity|RNA binding	g.chr10:18840786G>T	BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"""NOP2/Sun domain containing"""	23529	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 6"", ""NOL1/NOP2/Sun domain family, member 6"", ""ARL5B antisense RNA 1"""	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.1037C>A	10.37:g.18840786G>T	ENSP00000366519:p.Ser346*						p.S346*	NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN			9	1455	-			346					B0YJ54	Nonsense_Mutation	SNP	ENST00000377304.4	37	c.1037C>A	CCDS7130.1	.	.	.	.	.	.	.	.	.	.	G	40	8.136252	0.98672	.	.	ENSG00000241058	ENST00000377304	.	.	.	5.8	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0616	0.71958	0.068:0.0:0.932:0.0	.	.	.	.	X	346	.	ENSP00000366519:S346X	S	-	2	0	NSUN6	18880792	1.000000	0.71417	0.570000	0.28473	0.250000	0.25880	9.206000	0.95056	1.469000	0.48083	0.561000	0.74099	TCA		0.428	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047083.1		NM_182543		5	155	1	0	0.00198382	0.001984	0.00201395	5	155		
ARMC4	55130	broad.mit.edu	37	10	28276464	28276464	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr10:28276464G>C	ENST00000305242.5	-	3	325	c.233C>G	c.(232-234)aCa>aGa	p.T78R	ARMC4_ENST00000239715.3_5'Flank	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	78					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGATTTGACTGTTGTTTCACt	0.318																																						uc009xky.2		NaN																	0				ovary(4)|skin(2)	6						c.(232-234)ACA>AGA		armadillo repeat containing 4							44.0	44.0	44.0					10																	28276464		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28276464G>C	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.233C>G	10.37:g.28276464G>C	ENSP00000306410:p.Thr78Arg					ARMC4_uc001itz.2_Missense_Mutation_p.T78R	p.T78R	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			3	331	-			78					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.233C>G	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	G	9.278	1.047310	0.19827	.	.	ENSG00000169126	ENST00000305242	T	0.30981	1.51	5.72	0.168	0.15012	.	0.572002	0.18321	N	0.144804	T	0.23492	0.0568	M	0.68317	2.08	0.09310	N	1	B	0.25955	0.138	B	0.21360	0.034	T	0.16541	-1.0399	10	0.37606	T	0.19	-11.2958	2.0693	0.03609	0.1933:0.1134:0.4598:0.2335	.	78	Q5T2S8	ARMC4_HUMAN	R	78	ENSP00000306410:T78R	ENSP00000306410:T78R	T	-	2	0	ARMC4	28316470	0.006000	0.16342	0.002000	0.10522	0.781000	0.44180	0.938000	0.28965	0.108000	0.17862	-0.142000	0.14014	ACA		0.318	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1		NM_018076		8	22	0	0	0	0.006214	0	8	22		
VCL	7414	broad.mit.edu	37	10	75849105	75849105	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr10:75849105C>T	ENST00000211998.4	+	9	1268	c.1174C>T	c.(1174-1176)Cag>Tag	p.Q392*	VCL_ENST00000372755.3_Nonsense_Mutation_p.Q392*|VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	392	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CGATGCTGCTCAGGTAGTCAC	0.423																																						uc001jwd.2		NaN																VCL/ALK(4)	0				kidney(4)|ovary(1)|central_nervous_system(1)	6						c.(1174-1176)CAG>TAG		vinculin isoform meta-VCL							79.0	76.0	77.0					10																	75849105		2203	4300	6503	SO:0001587	stop_gained	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75849105C>T	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.1174C>T	10.37:g.75849105C>T	ENSP00000211998:p.Gln392*					VCL_uc009xrr.2_Nonsense_Mutation_p.Q141*|VCL_uc010qky.1_Nonsense_Mutation_p.Q299*|VCL_uc001jwe.2_Nonsense_Mutation_p.Q392*|VCL_uc010qkz.1_Intron	p.Q392*	NM_014000	NP_054706	P18206	VINC_HUMAN			9	1268	+	Prostate(51;0.0112)		392			N-terminal globular head.|3 X 112 AA tandem repeats.|2.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Nonsense_Mutation	SNP	ENST00000211998.4	37	c.1174C>T	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	C	34	5.380245	0.95945	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	.	.	.	5.47	5.47	0.80525	.	0.058886	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	19.7423	0.96237	0.0:1.0:0.0:0.0	.	.	.	.	X	392;392;299;319;64	.	ENSP00000211998:Q392X	Q	+	1	0	VCL	75519111	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	7.445000	0.80570	2.737000	0.93849	0.644000	0.83932	CAG		0.423	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_003373, NM_014000		35	8	0	0	0	0.01441	0	35	8		
PKD2L1	9033	broad.mit.edu	37	10	102056962	102056962	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr10:102056962C>T	ENST00000318222.3	-	6	1342	c.960G>A	c.(958-960)ctG>ctA	p.L320L	PKD2L1_ENST00000353274.3_Silent_p.L320L|PKD2L1_ENST00000338519.3_Silent_p.L245L	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	320					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		ACTCCACCACCAGCCTATAGG	0.582																																						uc001kqx.1		NaN																	0				ovary(4)	4						c.(958-960)CTG>CTA		polycystic kidney disease 2-like 1							64.0	62.0	62.0					10																	102056962		2203	4300	6503	SO:0001819	synonymous_variant	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102056962C>T	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.960G>A	10.37:g.102056962C>T						PKD2L1_uc009xwm.1_Silent_p.L273L	p.L320L	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	6	1343	-		Colorectal(252;0.117)	320			Helical; (Potential).		O75972|Q5W039|Q9UP35|Q9UPA2	Silent	SNP	ENST00000318222.3	37	c.960G>A	CCDS7492.1																																																																																				0.582	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2		NM_016112		4	52	0	0	0	0.000602	0	4	52		
PDCD11	22984	broad.mit.edu	37	10	105191938	105191938	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr10:105191938G>A	ENST00000369797.3	+	22	3515	c.3421G>A	c.(3421-3423)Gag>Aag	p.E1141K		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1141					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TAGCCCCATGGAGAAGATTAA	0.438																																						uc001kwy.1		NaN																	0				ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(3421-3423)GAG>AAG		programmed cell death 11							146.0	134.0	138.0					10																	105191938		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105191938G>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.3421G>A	10.37:g.105191938G>A	ENSP00000358812:p.Glu1141Lys						p.E1141K	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	22	3508	+		Colorectal(252;0.0747)|Breast(234;0.128)	1141					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.3421G>A	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774993	0.49786	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.16743	2.32	5.25	5.25	0.73442	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.289307	0.38778	N	0.001571	T	0.12860	0.0312	L	0.50333	1.59	0.45427	D	0.998403	B	0.30870	0.298	B	0.21708	0.036	T	0.02844	-1.1103	10	0.06365	T	0.9	-36.5119	11.4851	0.50348	0.0841:0.0:0.9159:0.0	.	1141	Q14690	RRP5_HUMAN	K	1141	ENSP00000358812:E1141K	ENSP00000358812:E1141K	E	+	1	0	PDCD11	105181928	1.000000	0.71417	0.989000	0.46669	0.576000	0.36127	3.660000	0.54496	2.733000	0.93635	0.561000	0.74099	GAG		0.438	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1				17	69	0	0	0	0.00278	0	17	69		
SORCS1	114815	broad.mit.edu	37	10	108371749	108371749	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr10:108371749G>C	ENST00000263054.6	-	22	2960	c.2953C>G	c.(2953-2955)Cca>Gca	p.P985A	SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000344440.6_Missense_Mutation_p.P985A|SORCS1_ENST00000369698.1_Missense_Mutation_p.P520A	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	985					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)		TCCAGGTTTGGAGAAAAGGAC	0.458																																						uc001kym.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(2953-2955)CCA>GCA		SORCS receptor 1 isoform a							108.0	99.0	102.0					10																	108371749		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108371749G>C	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.2953C>G	10.37:g.108371749G>C	ENSP00000263054:p.Pro985Ala					SORCS1_uc001kyl.2_Missense_Mutation_p.P985A|SORCS1_uc009xxs.2_Missense_Mutation_p.P985A|SORCS1_uc001kyn.1_Missense_Mutation_p.P985A|SORCS1_uc001kyo.2_Missense_Mutation_p.P985A	p.P985A	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	22	2961	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	985			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2953C>G	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989372	0.74589	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.21191	2.02;2.58;2.58	5.4	5.4	0.78164	.	0.183972	0.49305	D	0.000155	T	0.42426	0.1202	M	0.76574	2.34	0.51012	D	0.999909	P;P;P;P;P	0.47350	0.83;0.894;0.894;0.83;0.894	P;P;P;P;P	0.53760	0.546;0.734;0.734;0.546;0.734	T	0.14531	-1.0469	9	.	.	.	-13.8143	19.5416	0.95277	0.0:0.0:1.0:0.0	.	985;985;985;985;985	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	A	520;985;985	ENSP00000358712:P520A;ENSP00000263054:P985A;ENSP00000345964:P985A	.	P	-	1	0	SORCS1	108361739	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.383000	0.52471	2.683000	0.91414	0.650000	0.86243	CCA		0.458	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4		NM_052918		33	7	0	0	0	0.004878	0	33	7		
MKI67	4288	broad.mit.edu	37	10	129904104	129904104	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr10:129904104C>G	ENST00000368654.3	-	13	6375	c.6000G>C	c.(5998-6000)aaG>aaC	p.K2000N	MKI67_ENST00000368653.3_Missense_Mutation_p.K1640N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2000	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)				CCAAGGATATCTTGAGTCGTT	0.493																																						uc001lke.2		NaN																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(5998-6000)AAG>AAC		antigen identified by monoclonal antibody Ki-67							265.0	260.0	262.0					10																	129904104		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129904104C>G	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.6000G>C	10.37:g.129904104C>G	ENSP00000357643:p.Lys2000Asn					MKI67_uc001lkf.2_Missense_Mutation_p.K1640N|MKI67_uc009yav.1_Missense_Mutation_p.K1575N|MKI67_uc009yaw.1_Missense_Mutation_p.K1150N	p.K2000N	NM_002417	NP_002408	P46013	KI67_HUMAN			13	6195	-		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)	2000			16 X 122 AA approximate repeats.|9.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.6000G>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457268	0.43634	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03635	3.86;3.86	3.98	3.07	0.35406	.	1.276660	0.05670	N	0.588447	T	0.16811	0.0404	M	0.65498	2.005	0.09310	N	1	D;D;D	0.89917	0.999;0.98;1.0	D;P;D	0.75484	0.976;0.81;0.986	T	0.14952	-1.0454	10	0.48119	T	0.1	.	10.2497	0.43362	0.0:0.9063:0.0:0.0937	.	1999;1640;2000	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	N	2000;1640;1999	ENSP00000357643:K2000N;ENSP00000357642:K1640N	ENSP00000357642:K1640N	K	-	3	2	MKI67	129794094	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.077000	0.11394	1.008000	0.39264	-0.140000	0.14226	AAG		0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1		NM_002417		168	41	0	0	0	0.01441	0	168	41		
KRTAP5-4	387267	broad.mit.edu	37	11	1642643	1642643	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:1642643C>G	ENST00000399682.1	-	1	725	c.681G>C	c.(679-681)aaG>aaC	p.K227N		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCCTCAGATCTTACACTGGC	0.547																																						uc009ycy.1		NaN																	0					0						c.(817-819)AAG>AAC		keratin associated protein 5-4							79.0	67.0	71.0					11																	1642643		692	1591	2283	SO:0001583	missense	387267					keratin filament		g.chr11:1642643C>G	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.681G>C	11.37:g.1642643C>G	ENSP00000382590:p.Lys227Asn						p.K273N	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	4	906	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	287						Missense_Mutation	SNP	ENST00000399682.1	37	c.819G>C		.	.	.	.	.	.	.	.	.	.	C	10.29	1.309334	0.23821	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.00840	5.63	2.63	2.63	0.31362	.	.	.	.	.	T	0.04227	0.0117	M	0.82630	2.6	0.25405	N	0.988402	P	0.49961	0.93	P	0.56823	0.807	T	0.11155	-1.0599	9	0.62326	D	0.03	.	10.9644	0.47403	0.0:1.0:0.0:0.0	.	287	Q6L8H1	KRA54_HUMAN	N	227;218	ENSP00000382590:K227N	ENSP00000331603:K218N	K	-	3	2	KRTAP5-4	1599219	.	.	0.960000	0.40013	0.268000	0.26511	.	.	1.460000	0.47911	0.460000	0.39030	AAG		0.547	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1		NM_001012709		9	159	0	0	0	0.006214	0	9	159		
TSSC4	10078	broad.mit.edu	37	11	2427906	2427906	+	IGR	SNP	C	C	T	rs148532424	byFrequency	TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:2427906C>T	ENST00000333256.6	+	0	1686				AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000155858.6_Missense_Mutation_p.R1079Q|TRPM5_ENST00000452833.1_Missense_Mutation_p.R1081Q|TRPM5_ENST00000528453.1_Missense_Mutation_p.R1079Q|TRPM5_ENST00000533060.1_Missense_Mutation_p.R1079Q			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4									p.R1079P(1)		endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCGGTTTTCCGCAGCACCTC	0.617																																						uc001lwm.3		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(3235-3237)CGG>CAG		transient receptor potential cation channel,							120.0	112.0	115.0					11																	2427906		2202	4299	6501	SO:0001628	intergenic_variant	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2427906C>T	AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895		11.37:g.2427906C>T						TRPM5_uc010qxl.1_Missense_Mutation_p.R1079Q|TRPM5_uc009ydn.2_Missense_Mutation_p.R1081Q	p.R1079Q	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	21	3245	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	1079			Cytoplasmic (Potential).		C9JS66|Q86VL2|Q9BRS6	Missense_Mutation	SNP	ENST00000333256.6	37	c.3236G>A	CCDS7735.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369893	0.42003	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453	T;T;T;T;T	0.63417	0.11;0.06;0.05;-0.04;0.05	3.96	2.02	0.26589	.	0.130487	0.49305	D	0.000149	T	0.64735	0.2625	M	0.65975	2.015	0.28906	N	0.892996	D;D;D	0.60575	0.988;0.988;0.988	P;P;P	0.53062	0.717;0.717;0.611	T	0.59091	-0.7519	10	0.30078	T	0.28	-26.3765	8.7117	0.34387	0.0:0.7879:0.0:0.2121	.	1079;1081;1079	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	Q	1073;1079;1081;1079;1079	ENSP00000434383:R1073Q;ENSP00000155858:R1079Q;ENSP00000387965:R1081Q;ENSP00000434121:R1079Q;ENSP00000436809:R1079Q	ENSP00000155858:R1079Q	R	-	2	0	TRPM5	2384482	0.000000	0.05858	0.151000	0.22473	0.521000	0.34408	-0.072000	0.11486	0.799000	0.34018	0.561000	0.74099	CGG		0.617	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027369.3		NM_005706		74	96	0	0	0	0.01441	0	74	96		
OR51F1	256892	broad.mit.edu	37	11	4790271	4790271	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:4790271T>C	ENST00000380383.1	-	1	897	c.898A>G	c.(898-900)Atc>Gtc	p.I300V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.I293V			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		ACACTGTCGATGATGGGGTTG	0.448																																						uc010qyl.1		NaN																	0				ovary(1)|skin(1)	2						c.(877-879)ATC>GTC		olfactory receptor, family 51, subfamily F,							96.0	94.0	95.0					11																	4790271		2201	4298	6499	SO:0001583	missense	256892					integral to membrane	olfactory receptor activity	g.chr11:4790271T>C	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.898A>G	11.37:g.4790271T>C	ENSP00000369744:p.Ile300Val						p.I293V	NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	877	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	293						Missense_Mutation	SNP	ENST00000380383.1	37	c.877A>G		.	.	.	.	.	.	.	.	.	.	T	11.77	1.738089	0.30774	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.52057	0.68;0.68	5.43	5.43	0.79202	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000026	T	0.33614	0.0869	L	0.43598	1.365	0.30281	N	0.791338	P	0.39535	0.677	B	0.33254	0.16	T	0.34950	-0.9808	10	0.22109	T	0.4	.	8.9898	0.36017	0.0:0.0822:0.0:0.9178	.	300	A6NGY5	O51F1_HUMAN	V	293;300	ENSP00000345163:I293V;ENSP00000369744:I300V	ENSP00000345163:I293V	I	-	1	0	OR51F1	4746847	0.868000	0.29978	0.999000	0.59377	0.808000	0.45660	1.245000	0.32790	2.285000	0.76669	0.533000	0.62120	ATC		0.448	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001004752		56	69	0	0	0	0.01441	0	56	69		
OR2D3	120775	broad.mit.edu	37	11	6942471	6942471	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:6942471G>C	ENST00000317834.3	+	1	267	c.239G>C	c.(238-240)aGa>aCa	p.R80T		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	80						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)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTTTTTCTTAGAAATCTCTCC	0.408																																						uc010rav.1		NaN																	0					0						c.(238-240)AGA>ACA		olfactory receptor, family 2, subfamily D,							116.0	115.0	115.0					11																	6942471		2201	4296	6497	SO:0001583	missense	120775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6942471G>C	BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.239G>C	11.37:g.6942471G>C	ENSP00000320560:p.Arg80Thr						p.R80T	NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	239	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	80			Helical; Name=2; (Potential).		B2RP06|Q6IFG8|Q96R51	Missense_Mutation	SNP	ENST00000317834.3	37	c.239G>C	CCDS31417.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.078281	0.00375	.	.	ENSG00000178358	ENST00000317834	T	0.01963	4.53	5.07	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.554004	0.16265	N	0.222066	T	0.01421	0.0046	N	0.11023	0.085	0.30786	N	0.741515	B	0.09022	0.002	B	0.09377	0.004	T	0.31724	-0.9933	10	0.13470	T	0.59	-5.9074	9.608	0.39645	0.1755:0.0:0.8245:0.0	.	80	Q8NGH3	OR2D3_HUMAN	T	80	ENSP00000320560:R80T	ENSP00000320560:R80T	R	+	2	0	OR2D3	6899047	0.000000	0.05858	0.997000	0.53966	0.089000	0.18198	-0.094000	0.11094	1.510000	0.48803	0.655000	0.94253	AGA		0.408	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1		NM_001004684		55	58	0	0	0	0.01441	0	55	58		
MRGPRX3	117195	broad.mit.edu	37	11	18159013	18159013	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:18159013C>G	ENST00000396275.2	+	3	625	c.264C>G	c.(262-264)atC>atG	p.I88M		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TACGCCTCATCAATATCCGCC	0.547																																						uc001mnu.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(262-264)ATC>ATG		MAS-related GPR, member X3							107.0	102.0	104.0					11																	18159013		2200	4293	6493	SO:0001583	missense	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18159013C>G		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.264C>G	11.37:g.18159013C>G	ENSP00000379571:p.Ile88Met						p.I88M	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN			3	625	+			88			Extracellular (Potential).		B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	c.264C>G	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	C	9.638	1.138260	0.21123	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.09163	3.01;3.01	1.46	-2.93	0.05598	GPCR, rhodopsin-like superfamily (1);	1.987180	0.01961	N	0.043326	T	0.17874	0.0429	M	0.72118	2.19	0.09310	N	1	P	0.42871	0.792	P	0.47251	0.542	T	0.24584	-1.0156	10	0.32370	T	0.25	.	4.6707	0.12687	0.0:0.4164:0.4169:0.1667	.	88	Q96LB0	MRGX3_HUMAN	M	88	ENSP00000379571:I88M;ENSP00000436242:I88M	ENSP00000379571:I88M	I	+	3	3	MRGPRX3	18115589	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.614000	0.05604	-0.971000	0.03564	0.430000	0.28490	ATC		0.547	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1		NM_054031		42	50	0	0	0	0.00874	0	42	50		
ABTB2	25841	broad.mit.edu	37	11	34181459	34181459	+	Missense_Mutation	SNP	G	G	C	rs267602866		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:34181459G>C	ENST00000435224.2	-	13	3024	c.2600C>G	c.(2599-2601)tCt>tGt	p.S867C	ABTB2_ENST00000298992.2_Missense_Mutation_p.S681C	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	867	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CTACCTGTTAGAAGCTGTCAC	0.488																																						uc001mvl.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(2041-2043)TCT>TGT		ankyrin repeat and BTB (POZ) domain containing							89.0	75.0	80.0					11																	34181459		2202	4298	6500	SO:0001583	missense	25841						DNA binding	g.chr11:34181459G>C	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2600C>G	11.37:g.34181459G>C	ENSP00000410157:p.Ser867Cys						p.S681C	NM_145804	NP_665803	Q8N961	ABTB2_HUMAN			13	2272	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	681					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	c.2042C>G	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133223	0.77662	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	D;D	0.85861	-2.04;-2.04	5.05	5.05	0.67936	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.92054	0.7482	M	0.71920	2.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92830	0.6279	10	0.87932	D	0	-9.2012	18.7745	0.91904	0.0:0.0:1.0:0.0	.	681	Q8N961	ABTB2_HUMAN	C	867;681	ENSP00000410157:S867C;ENSP00000298992:S681C	ENSP00000298992:S681C	S	-	2	0	ABTB2	34138035	1.000000	0.71417	0.909000	0.35828	0.689000	0.40095	9.813000	0.99286	2.506000	0.84524	0.561000	0.74099	TCT		0.488	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3		NM_145804		27	22	0	0	0	0.009535	0	27	22		
SERPING1	710	broad.mit.edu	37	11	57367761	57367761	+	Missense_Mutation	SNP	A	A	G	rs281875168		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:57367761A>G	ENST00000278407.4	+	3	688	c.461A>G	c.(460-462)tAc>tGc	p.Y154C	SERPING1_ENST00000403558.1_Missense_Mutation_p.Y188C|SERPING1_ENST00000378324.2_Missense_Mutation_p.Y102C|SERPING1_ENST00000378323.4_Missense_Mutation_p.Y159C|SERPING1_ENST00000340687.6_Missense_Mutation_p.Y154C	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	154			Y -> C (in HAE; dbSNP:rs281875168). {ECO:0000269|PubMed:22994404}.		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						CTGAAGCTCTACCACGCCTTC	0.542																																						uc001nkp.1		NaN																	0				central_nervous_system(1)	1						c.(460-462)TAC>TGC		serpin peptidase inhibitor, clade G, member 1							109.0	111.0	110.0					11																	57367761		2201	4296	6497	SO:0001583	missense	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.chr11:57367761A>G	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.461A>G	11.37:g.57367761A>G	ENSP00000278407:p.Tyr154Cys					SERPING1_uc001nkq.1_Missense_Mutation_p.Y154C|SERPING1_uc010rju.1_Missense_Mutation_p.Y102C|SERPING1_uc010rjv.1_Missense_Mutation_p.Y159C|SERPING1_uc001nkr.1_Missense_Mutation_p.Y154C|SERPING1_uc009ymi.1_Missense_Mutation_p.Y154C|SERPING1_uc009ymj.1_Missense_Mutation_p.Y154C|SERPING1_uc001nks.1_Intron	p.Y154C	NM_000062	NP_000053	P05155	IC1_HUMAN			3	652	+			154					A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	ENST00000278407.4	37	c.461A>G	CCDS7962.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.307197	0.60305	.	.	ENSG00000149131	ENST00000405496;ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D;D;D	0.96365	-3.99;-2.61;-2.61;-2.61;-2.61;-2.61	5.94	5.94	0.96194	Serpin domain (3);	0.068425	0.64402	D	0.000011	D	0.98210	0.9408	M	0.88842	2.985	0.54753	D	0.999984	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.99050	1.0827	10	0.87932	D	0	.	12.7897	0.57526	1.0:0.0:0.0:0.0	.	159;188;154;154	B4E1F0;E9PGN7;E9KL26;P05155	.;.;.;IC1_HUMAN	C	154;154;154;159;102;188	ENSP00000384561:Y154C;ENSP00000278407:Y154C;ENSP00000341861:Y154C;ENSP00000367574:Y159C;ENSP00000367575:Y102C;ENSP00000384420:Y188C	ENSP00000278407:Y154C	Y	+	2	0	SERPING1	57124337	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	3.475000	0.53136	2.279000	0.76181	0.459000	0.35465	TAC		0.542	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1		NM_000062		10	169	0	0	0	0.00245	0	10	169		
DAGLA	747	broad.mit.edu	37	11	61507077	61507077	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:61507077C>T	ENST00000257215.5	+	17	1913	c.1797C>T	c.(1795-1797)ctC>ctT	p.L599L		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	599					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GCACTCCACTCTACCCGCCCG	0.657																																						uc001nsa.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1795-1797)CTC>CTT		neural stem cell-derived dendrite regulator							132.0	111.0	118.0					11																	61507077		2202	4299	6501	SO:0001819	synonymous_variant	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61507077C>T	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1797C>T	11.37:g.61507077C>T							p.L599L	NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	17	1908	+			599			Cytoplasmic (Potential).		A7E233|Q6WQJ0	Silent	SNP	ENST00000257215.5	37	c.1797C>T	CCDS31578.1																																																																																				0.657	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1		NM_006133		48	63	0	0	0	0.01441	0	48	63		
KRTAP5-7	440050	broad.mit.edu	37	11	71238815	71238815	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:71238815G>T	ENST00000398536.4	+	1	503	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	157	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						TAGCTGCTGTGTCCCCGTGTG	0.572																																						uc001oqq.1		NaN																	0					0						c.(469-471)GTC>TTC		keratin associated protein 5-7							138.0	143.0	141.0					11																	71238815		2200	4294	6494	SO:0001583	missense	440050					keratin filament		g.chr11:71238815G>T	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"""Keratin associated proteins"""	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.469G>T	11.37:g.71238815G>T	ENSP00000417330:p.Val157Phe						p.V157F	NM_001012503	NP_001012521	Q6L8G8	KRA57_HUMAN			1	503	+			157			7 X 4 AA repeats of C-C-X-P.|7.		B2RNM3|Q701N5	Missense_Mutation	SNP	ENST00000398536.4	37	c.469G>T	CCDS41682.1	.	.	.	.	.	.	.	.	.	.	N	12.09	1.833201	0.32421	.	.	ENSG00000244411	ENST00000398536	T	0.01335	5.0	1.69	1.69	0.24217	.	.	.	.	.	T	0.03136	0.0092	M	0.89287	3.02	0.26516	N	0.974513	B	0.33637	0.42	B	0.26614	0.071	T	0.13045	-1.0524	9	0.66056	D	0.02	.	9.3307	0.38021	0.0:0.0:1.0:0.0	.	157	Q6L8G8	KRA57_HUMAN	F	157	ENSP00000417330:V157F	ENSP00000417330:V157F	V	+	1	0	KRTAP5-7	70916463	0.966000	0.33281	0.904000	0.35570	0.857000	0.48899	1.371000	0.34250	1.266000	0.44231	0.289000	0.19496	GTC		0.572	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1				136	202	1	0	2.45186e-53	0.01441	2.679e-53	136	202		
FAT3	120114	broad.mit.edu	37	11	92087838	92087838	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:92087838G>A	ENST00000298047.6	+	1	2577	c.2560G>A	c.(2560-2562)Gaa>Aaa	p.E854K	FAT3_ENST00000525166.1_Missense_Mutation_p.E704K|FAT3_ENST00000541502.1_Missense_Mutation_p.E854K|FAT3_ENST00000409404.2_Missense_Mutation_p.E854K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	854	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I850_E854delIIQVE(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CATTCAAGTGGAAGCCAGAGA	0.393										TCGA Ovarian(4;0.039)																												uc001pdj.3		NaN																	1	Deletion - In frame(1)		prostate(1)	ovary(4)|pancreas(1)	5						c.(2560-2562)GAA>AAA		FAT tumor suppressor homolog 3							92.0	89.0	90.0					11																	92087838		1948	4133	6081	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92087838G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2560G>A	11.37:g.92087838G>A	ENSP00000298047:p.Glu854Lys	TCGA Ovarian(4;0.039)					p.E854K	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	2577	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	854			Cadherin 8.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.2560G>A		.	.	.	.	.	.	.	.	.	.	G	13.85	2.360200	0.41801	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.50548	4.68;4.68;0.74;4.68	5.71	5.71	0.89125	.	.	.	.	.	T	0.32615	0.0835	N	0.05078	-0.115	0.41268	D	0.986822	D	0.53745	0.962	P	0.49276	0.605	T	0.12451	-1.0547	9	0.10636	T	0.68	.	14.4535	0.67401	0.0:0.1468:0.8532:0.0	.	854	Q8TDW7-3	.	K	854;854;854;704	ENSP00000298047:E854K;ENSP00000387040:E854K;ENSP00000443786:E854K;ENSP00000432586:E704K	ENSP00000298047:E854K	E	+	1	0	FAT3	91727486	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.553000	0.67287	2.700000	0.92200	0.467000	0.42956	GAA		0.393	FAT3-201	KNOWN	basic	protein_coding	protein_coding			NM_001008781		22	27	0	0	0	0.004656	0	22	27		
KIAA1377	57562	broad.mit.edu	37	11	101868342	101868342	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:101868342G>C	ENST00000263468.8	+	11	3592	c.3322G>C	c.(3322-3324)Gat>Cat	p.D1108H	KIAA1377_ENST00000537689.1_Missense_Mutation_p.D909H	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	1108										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAAGAGAGAAGATAGAACCAG	0.428																																						uc001pgm.2		NaN																	0				breast(2)|ovary(1)|central_nervous_system(1)	4						c.(3322-3324)GAT>CAT		hypothetical protein LOC57562							163.0	156.0	158.0					11																	101868342		2203	4299	6502	SO:0001583	missense	57562						protein binding	g.chr11:101868342G>C	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.3322G>C	11.37:g.101868342G>C	ENSP00000263468:p.Asp1108His					KIAA1377_uc001pgn.2_Missense_Mutation_p.D1064H|KIAA1377_uc010run.1_Missense_Mutation_p.D909H	p.D1108H	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	11	3592	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	1108					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.3322G>C	CCDS31658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.076|1.076	-0.668333|-0.668333	0.03428|0.03428	.|.	.|.	ENSG00000110318|ENSG00000110318	ENST00000263468;ENST00000537689|ENST00000532077	T;T|.	0.10099|.	3.06;2.91|.	1.32|1.32	-0.825|-0.825	0.10809|0.10809	.|.	0.708126|.	0.11412|.	U|.	0.566709|.	T|T	0.19327|0.19327	0.0464|0.0464	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	P|.	0.37548|.	0.599|.	B|.	0.27796|.	0.083|.	T|T	0.23226|0.23226	-1.0194|-1.0194	10|5	0.52906|.	T|.	0.07|.	10.2166|10.2166	1.8155|1.8155	0.03099|0.03099	0.2319:0.0:0.4409:0.3272|0.2319:0.0:0.4409:0.3272	.|.	1108|.	Q9P2H0|.	K1377_HUMAN|.	H|T	1108;909|71	ENSP00000263468:D1108H;ENSP00000443184:D909H|.	ENSP00000263468:D1108H|.	D|R	+|+	1|2	0|0	KIAA1377|KIAA1377	101373552|101373552	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.092000|0.092000	0.18411|0.18411	-0.498000|-0.498000	0.06420|0.06420	-0.304000|-0.304000	0.08843|0.08843	0.467000|0.467000	0.42956|0.42956	GAT|AGA		0.428	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1		NM_020802		5	88	0	0	0	0.001168	0	5	88		
DLAT	1737	broad.mit.edu	37	11	111896985	111896985	+	Missense_Mutation	SNP	G	G	A	rs200147835		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:111896985G>A	ENST00000280346.6	+	2	1002	c.343G>A	c.(343-345)Gag>Aag	p.E115K	DLAT_ENST00000537636.1_Missense_Mutation_p.E13K|DLAT_ENST00000393051.1_Missense_Mutation_p.E115K	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	115	Lipoyl-binding 1. {ECO:0000255|PROSITE- ProRule:PRU01066}.				cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		GGAAAAAAAAGAGGGGGACAA	0.338													G|||	1	0.000199681	0.0	0.0	5008	,	,		14444	0.0		0.001	False		,,,				2504	0.0					uc001pmo.2		NaN																	0					0						c.(343-345)GAG>AAG		dihydrolipoamide S-acetyltransferase precursor	NADH(DB00157)						48.0	49.0	48.0					11																	111896985		2201	4297	6498	SO:0001583	missense	1737				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	g.chr11:111896985G>A	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.343G>A	11.37:g.111896985G>A	ENSP00000280346:p.Glu115Lys					DLAT_uc009yyk.1_Missense_Mutation_p.E115K|DLAT_uc010rwr.1_Missense_Mutation_p.E115K	p.E115K	NM_001931	NP_001922	P10515	ODP2_HUMAN		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	2	1002	+		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	115			Lipoyl-binding 1.		Q16783|Q53EP3	Missense_Mutation	SNP	ENST00000280346.6	37	c.343G>A	CCDS8354.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	33	5.218703	0.95104	.	.	ENSG00000150768	ENST00000280346;ENST00000534998;ENST00000393051;ENST00000531306;ENST00000537636	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.57	4.65	0.58169	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.046163	0.85682	N	0.000000	T	0.77824	0.4188	M	0.88181	2.935	0.28251	N	0.925244	D;D	0.71674	0.98;0.998	D;D	0.69307	0.938;0.963	T	0.73817	-0.3863	10	0.62326	D	0.03	-21.1753	13.8387	0.63426	0.0733:0.0:0.9267:0.0	.	115;115	E9PEJ4;P10515	.;ODP2_HUMAN	K	115;115;115;74;13	ENSP00000280346:E115K;ENSP00000376771:E115K;ENSP00000433432:E74K;ENSP00000442427:E13K	ENSP00000280346:E115K	E	+	1	0	DLAT	111402195	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.091000	0.76923	2.614000	0.88457	0.591000	0.81541	GAG		0.338	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1		NM_001931		5	19	0	0	0	0.006214	0	5	19		
USP28	57646	broad.mit.edu	37	11	113672370	113672370	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:113672370C>T	ENST00000003302.4	-	24	2961	c.2893G>A	c.(2893-2895)Gaa>Aaa	p.E965K	USP28_ENST00000545540.1_Missense_Mutation_p.E808K|USP28_ENST00000544967.1_Missense_Mutation_p.E641K|USP28_ENST00000260188.5_Missense_Mutation_p.E933K	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	965					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.E965K(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TCATTTGTTTCAAAAAGAGAA	0.363																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	uc001poh.2		NaN																	1	Substitution - Missense(1)		skin(1)	lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7						c.(2893-2895)GAA>AAA		ubiquitin specific protease 28							95.0	84.0	88.0					11																	113672370		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113672370C>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.2893G>A	11.37:g.113672370C>T	ENSP00000003302:p.Glu965Lys					USP28_uc001pog.2_Missense_Mutation_p.E641K|USP28_uc010rwy.1_Missense_Mutation_p.E808K|USP28_uc001poi.2_Missense_Mutation_p.E288K	p.E965K	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	24	2926	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	965					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.2893G>A	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429119	0.62844	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540	T;T;T;T	0.50001	1.33;1.34;0.76;1.35	5.09	5.09	0.68999	.	0.324244	0.36167	N	0.002755	T	0.48840	0.1522	L	0.46157	1.445	0.33232	D	0.556079	B;B;B	0.28439	0.083;0.212;0.134	B;B;B	0.34346	0.03;0.18;0.067	T	0.62124	-0.6920	10	0.72032	D	0.01	-19.2003	18.7047	0.91633	0.0:1.0:0.0:0.0	.	808;965;641	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	K	965;933;641;808	ENSP00000003302:E965K;ENSP00000260188:E933K;ENSP00000442431:E641K;ENSP00000444991:E808K	ENSP00000003302:E965K	E	-	1	0	USP28	113177580	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.599000	0.36751	2.639000	0.89480	0.585000	0.79938	GAA		0.363	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1				20	34	0	0	0	0.005443	0	20	34		
PHLDB1	23187	broad.mit.edu	37	11	118485345	118485345	+	Silent	SNP	C	C	T	rs528831163		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:118485345C>T	ENST00000361417.2	+	4	543	c.132C>T	c.(130-132)agC>agT	p.S44S	PHLDB1_ENST00000356063.5_Silent_p.S44S	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	44										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACCTGGTGAGCCTGGGCAGTG	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		18535	0.0		0.0	False		,,,				2504	0.001					uc001ptr.1		NaN																	0					0						c.(130-132)AGC>AGT		pleckstrin homology-like domain, family B,							129.0	92.0	104.0					11																	118485345		2200	4295	6495	SO:0001819	synonymous_variant	23187							g.chr11:118485345C>T		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.132C>T	11.37:g.118485345C>T						PHLDB1_uc010ryh.1_Silent_p.S44S|PHLDB1_uc001pts.2_Silent_p.S44S|PHLDB1_uc001ptt.2_Silent_p.S44S|PHLDB1_uc001ptu.1_RNA	p.S44S	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	4	485	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	44					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	c.132C>T	CCDS8401.1																																																																																				0.572	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1		NM_015157		17	23	0	0	0	0.00499	0	17	23		
SORL1	6653	broad.mit.edu	37	11	121485651	121485651	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:121485651C>G	ENST00000260197.7	+	41	5620	c.5491C>G	c.(5491-5493)Ctg>Gtg	p.L1831V	SORL1_ENST00000527934.1_Missense_Mutation_p.L446V|SORL1_ENST00000532694.1_Missense_Mutation_p.L677V|SORL1_ENST00000525532.1_Missense_Mutation_p.L775V|SORL1_ENST00000534286.1_Missense_Mutation_p.L741V	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1831	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.L1831V(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGATAGCCCTCTGGCATTTGA	0.527																																						uc001pxx.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(5491-5493)CTG>GTG		sortilin-related receptor containing LDLR class							114.0	97.0	103.0					11																	121485651		2202	4299	6501	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121485651C>G	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.5491C>G	11.37:g.121485651C>G	ENSP00000260197:p.Leu1831Val					SORL1_uc010rzp.1_Missense_Mutation_p.L677V|SORL1_uc010rzq.1_Missense_Mutation_p.L446V	p.L1831V	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	41	5571	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1831			Extracellular (Potential).|Fibronectin type-III 3.		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.5491C>G	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	C	1.938	-0.444373	0.04604	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.91	2.44	0.29823	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.163096	0.40064	N	0.001190	T	0.23054	0.0557	N	0.19112	0.55	0.34688	D	0.725458	B;B	0.25719	0.132;0.051	B;B	0.17098	0.017;0.01	T	0.29518	-1.0009	10	0.02654	T	1	.	7.1159	0.25416	0.0:0.6573:0.1283:0.2143	.	446;1831	E9PKB0;Q92673	.;SORL_HUMAN	V	1831;775;677;741;446	ENSP00000260197:L1831V;ENSP00000434634:L775V;ENSP00000432131:L677V;ENSP00000436447:L741V;ENSP00000435405:L446V	ENSP00000260197:L1831V	L	+	1	2	SORL1	120990861	0.740000	0.28207	0.999000	0.59377	0.995000	0.86356	0.625000	0.24477	0.769000	0.33313	0.655000	0.94253	CTG		0.527	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2		NM_003105		14	180	0	0	0	0.003163	0	14	180		
UBASH3B	84959	broad.mit.edu	37	11	122672000	122672000	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:122672000G>C	ENST00000284273.5	+	11	1930	c.1555G>C	c.(1555-1557)Gag>Cag	p.E519Q		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	519	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		ACCTCCATCAGAGTTAGCTGC	0.488																																						uc001pyi.3		NaN																	0				central_nervous_system(1)	1						c.(1555-1557)GAG>CAG		ubiquitin associated and SH3 domain containing,							171.0	160.0	164.0					11																	122672000		2202	4299	6501	SO:0001583	missense	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122672000G>C	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1555G>C	11.37:g.122672000G>C	ENSP00000284273:p.Glu519Gln						p.E519Q	NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	11	1915	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	519			Protein tyrosine phosphatase (By similarity).		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	ENST00000284273.5	37	c.1555G>C	CCDS31694.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194156	0.78902	.	.	ENSG00000154127	ENST00000284273	T	0.33865	1.39	5.47	4.54	0.55810	Histidine phosphatase superfamily, clade-1 (1);	0.156002	0.56097	D	0.000025	T	0.48370	0.1496	L	0.41573	1.285	0.51233	D	0.999919	D	0.60575	0.988	P	0.61328	0.887	T	0.47407	-0.9120	10	0.51188	T	0.08	-16.1407	15.7464	0.77949	0.0:0.1371:0.8629:0.0	.	519	Q8TF42	UBS3B_HUMAN	Q	519	ENSP00000284273:E519Q	ENSP00000284273:E519Q	E	+	1	0	UBASH3B	122177210	1.000000	0.71417	0.999000	0.59377	0.780000	0.44128	9.415000	0.97375	1.249000	0.43950	0.655000	0.94253	GAG		0.488	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1		NM_032873		16	206	0	0	0	0.008871	0	16	206		
OR8B2	26595	broad.mit.edu	37	11	124253209	124253209	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:124253209C>T	ENST00000375013.2	-	1	49	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E11Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AGAATAAATTCAGTCACTAAG	0.373																																						uc010sai.1		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(31-33)GAA>AAA		olfactory receptor, family 8, subfamily B,							103.0	100.0	101.0					11																	124253209		2201	4299	6500	SO:0001583	missense	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124253209C>T	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.31G>A	11.37:g.124253209C>T	ENSP00000364152:p.Glu11Lys					OR8B2_uc001qab.3_RNA	p.E11K	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	31	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	11			Extracellular (Potential).		Q8NGH2	Missense_Mutation	SNP	ENST00000375013.2	37	c.31G>A	CCDS31708.1	.	.	.	.	.	.	.	.	.	.	c	16.46	3.129926	0.56721	.	.	ENSG00000204293	ENST00000375013	T	0.01119	5.31	4.15	4.15	0.48705	.	0.000000	0.64402	D	0.000011	T	0.06508	0.0167	M	0.78049	2.395	0.24560	N	0.99398	D	0.69078	0.997	D	0.73380	0.98	T	0.01500	-1.1339	10	0.66056	D	0.02	.	14.8194	0.70059	0.0:1.0:0.0:0.0	.	11	Q96RD0	OR8B2_HUMAN	K	11	ENSP00000364152:E11K	ENSP00000364152:E11K	E	-	1	0	OR8B2	123758419	0.005000	0.15991	0.078000	0.20375	0.020000	0.10135	1.040000	0.30278	2.334000	0.79466	0.456000	0.33151	GAA		0.373	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1		NM_001005468		12	138	0	0	0	0.010818	0	12	138		
PRDM10	56980	broad.mit.edu	37	11	129785719	129785719	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:129785719G>C	ENST00000360871.3	-	16	2593	c.2362C>G	c.(2362-2364)Ctg>Gtg	p.L788V	PRDM10_ENST00000304538.6_Missense_Mutation_p.L702V|PRDM10_ENST00000526082.1_Missense_Mutation_p.L706V|PRDM10_ENST00000358825.5_Missense_Mutation_p.L792V|PRDM10_ENST00000423662.2_Missense_Mutation_p.L706V|PRDM10_ENST00000528746.1_Missense_Mutation_p.L762V	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	792					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGGTTCTTCAGAATGTGGGCT	0.532																																						uc001qfm.2		NaN																	0				pancreas(1)	1						c.(2374-2376)CTG>GTG		PR domain containing 10 isoform 1							109.0	108.0	108.0					11																	129785719		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129785719G>C	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2362C>G	11.37:g.129785719G>C	ENSP00000354118:p.Leu788Val					PRDM10_uc001qfj.2_Missense_Mutation_p.L706V|PRDM10_uc001qfk.2_Missense_Mutation_p.L702V|PRDM10_uc001qfl.2_Missense_Mutation_p.L706V|PRDM10_uc010sbx.1_Missense_Mutation_p.L702V|PRDM10_uc001qfn.2_Missense_Mutation_p.L788V|PRDM10_uc009zcs.1_5'UTR	p.L792V	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	17	2606	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	792			C2H2-type 9.		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.2374C>G	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383136	0.61845	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;2.8;1.59;2.79;1.59	6.17	5.09	0.68999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.40222	0.1108	L	0.27053	0.805	0.51233	D	0.99991	D;D;D;D;P;D	0.76494	0.999;0.998;0.999;0.998;0.663;0.998	D;D;D;D;B;D	0.80764	0.994;0.99;0.994;0.99;0.323;0.99	T	0.04579	-1.0941	10	0.39692	T	0.17	-26.5282	12.7716	0.57423	0.137:0.0:0.863:0.0	.	702;788;792;706;702;706	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	V	792;702;788;706;762;706;505	ENSP00000351686:L792V;ENSP00000302669:L702V;ENSP00000354118:L788V;ENSP00000398431:L706V;ENSP00000431262:L762V;ENSP00000432237:L706V;ENSP00000435940:L505V	ENSP00000302669:L702V	L	-	1	2	PRDM10	129290929	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.861000	0.56002	2.941000	0.99782	0.655000	0.94253	CTG		0.532	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1		NM_199437		6	123	0	0	0	0.001984	0	6	123		
APLP2	334	broad.mit.edu	37	11	130003611	130003611	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:130003611C>G	ENST00000263574.5	+	12	1744	c.1672C>G	c.(1672-1674)Caa>Gaa	p.Q558E	APLP2_ENST00000338167.5_Missense_Mutation_p.Q558E|APLP2_ENST00000539648.1_Missense_Mutation_p.Q346E|APLP2_ENST00000278756.7_Missense_Mutation_p.Q568E|APLP2_ENST00000345598.5_Missense_Mutation_p.Q329E|APLP2_ENST00000543137.1_Missense_Mutation_p.Q465E|APLP2_ENST00000528499.1_Missense_Mutation_p.Q502E	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	558					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CCAAGAAATTCAAGAGGAAAT	0.478																																						uc010sby.1		NaN																	0				ovary(3)	3						c.(1672-1674)CAA>GAA		amyloid beta (A4) precursor-like protein 2							102.0	96.0	98.0					11																	130003611		2201	4297	6498	SO:0001583	missense	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:130003611C>G	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1672C>G	11.37:g.130003611C>G	ENSP00000263574:p.Gln558Glu					APLP2_uc001qfp.2_Missense_Mutation_p.Q558E|APLP2_uc001qfq.2_Missense_Mutation_p.Q502E|APLP2_uc010sbz.1_Missense_Mutation_p.Q346E|APLP2_uc001qfr.2_Missense_Mutation_p.Q324E|APLP2_uc001qfs.2_Missense_Mutation_p.Q329E|APLP2_uc001qfv.2_Missense_Mutation_p.Q449E	p.Q558E	NM_001642	NP_001633	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	12	1829	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	558			Extracellular (Potential).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	c.1672C>G	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385648	0.82792	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85	4.87	4.87	0.63330	Amyloidogenic glycoprotein, E2 domain (1);	0.000000	0.85682	D	0.000000	T	0.68732	0.3033	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D;D;D	0.62365	0.974;0.983;0.981;0.982;0.991;0.989;0.985	P;D;P;D;D;P;D	0.70935	0.886;0.916;0.864;0.971;0.916;0.743;0.921	T	0.73720	-0.3894	10	0.87932	D	0	-22.2189	17.02	0.86431	0.0:1.0:0.0:0.0	.	346;558;502;329;496;502;558	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	E	502;346;558;329;558;568;465	ENSP00000435914:Q502E;ENSP00000443728:Q346E;ENSP00000263574:Q558E;ENSP00000263575:Q329E;ENSP00000345444:Q558E;ENSP00000278756:Q568E;ENSP00000444122:Q465E	ENSP00000263574:Q558E	Q	+	1	0	APLP2	129508821	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.442000	0.80503	2.252000	0.74401	0.563000	0.77884	CAA		0.478	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1		NM_001642		4	78	0	0	0	0.009096	0	4	78		
C12orf4	57102	broad.mit.edu	37	12	4639192	4639192	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:4639192C>G	ENST00000261250.3	-	4	436	c.349G>C	c.(349-351)Gaa>Caa	p.E117Q	C12orf4_ENST00000545746.1_Missense_Mutation_p.E117Q	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	117										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		CTGGGTTCTTCAGGCCTTGCA	0.343																																						uc001qms.2		NaN																	0					0						c.(349-351)GAA>CAA		hypothetical protein LOC57102							94.0	91.0	92.0					12																	4639192		2203	4300	6503	SO:0001583	missense	57102							g.chr12:4639192C>G	AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.349G>C	12.37:g.4639192C>G	ENSP00000261250:p.Glu117Gln					C12orf4_uc001qmt.2_Missense_Mutation_p.E117Q	p.E117Q	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)	4	437	-			117					D3DUQ8|Q6MZH5	Missense_Mutation	SNP	ENST00000261250.3	37	c.349G>C	CCDS8528.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502065	0.64298	.	.	ENSG00000047621	ENST00000261250;ENST00000545746;ENST00000542080	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.71187	0.3310	M	0.64997	1.995	0.80722	D	1	D	0.54397	0.966	P	0.55303	0.773	T	0.66881	-0.5811	9	0.25106	T	0.35	-10.7806	17.6132	0.88060	0.0:1.0:0.0:0.0	.	117	Q9NQ89	CL004_HUMAN	Q	117;117;70	.	ENSP00000261250:E117Q	E	-	1	0	C12orf4	4509453	1.000000	0.71417	0.917000	0.36280	0.930000	0.56654	7.338000	0.79269	2.658000	0.90341	0.650000	0.86243	GAA		0.343	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1		NM_020374		6	96	0	0	0	0.001168	0	6	96		
KLRC4	8302	broad.mit.edu	37	12	10562024	10562024	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:10562024C>G	ENST00000309384.1	-	1	332	c.151G>C	c.(151-153)Gat>Cat	p.D51H	KLRC4-KLRK1_ENST00000539300.1_Missense_Mutation_p.G42A	NM_013431.2	NP_038459.1	O43908	NKG2F_HUMAN	killer cell lectin-like receptor subfamily C, member 4	51					cellular defense response (GO:0006968)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						CCTTGATGATCCGAAGAAGCA	0.353																																						uc001qye.2		NaN																	0					0						c.(151-153)GAT>CAT		killer cell lectin-like receptor subfamily C,							191.0	182.0	185.0					12																	10562024		2202	4300	6502	SO:0001583	missense	8302				cellular defense response	integral to membrane	binding|receptor activity	g.chr12:10562024C>G	U96846	CCDS8624.1	12p13.2-p12.3	2008-08-05			ENSG00000183542	ENSG00000183542		"""Killer cell lectin-like receptors"""	6377	protein-coding gene	gene with protein product		602893				9598306	Standard	NM_013431		Approved	NKG2-F	uc001qye.3	O43908	OTTHUMG00000168575	ENST00000309384.1:c.151G>C	12.37:g.10562024C>G	ENSP00000310216:p.Asp51His					KLRK1_uc001qyc.2_5'Flank|KLRK1_uc009zhk.2_5'UTR|KLRK1_uc001qyd.2_Intron	p.D51H	NM_013431	NP_038459	O43908	NKG2F_HUMAN			1	333	-			51			Cytoplasmic (Potential).		O60851	Missense_Mutation	SNP	ENST00000309384.1	37	c.151G>C	CCDS8624.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056236	0.36277	.	.	ENSG00000183542	ENST00000309384	T	0.08102	3.13	3.78	-2.72	0.05968	.	0.939046	0.08918	N	0.874802	T	0.14056	0.0340	M	0.62088	1.915	0.09310	N	1	D	0.55605	0.972	P	0.54629	0.757	T	0.17715	-1.0360	10	0.59425	D	0.04	.	3.3417	0.07120	0.5119:0.2511:0.0:0.237	.	51	O43908	NKG2F_HUMAN	H	51	ENSP00000310216:D51H	ENSP00000310216:D51H	D	-	1	0	KLRC4	10453291	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.614000	0.05604	-0.303000	0.08856	0.460000	0.39030	GAT		0.353	KLRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400108.1		NM_013431		10	140	0	0	0	0.003163	0	10	140		
TAS2R9	50835	broad.mit.edu	37	12	10962188	10962188	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:10962188C>G	ENST00000240691.2	-	1	579	c.487G>C	c.(487-489)Gaa>Caa	p.E163Q	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	163					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	taste receptor activity (GO:0008527)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GTAATGTTTTCTTCATGACTG	0.378																																						uc001qyx.2		NaN																	0				skin(1)	1						c.(487-489)GAA>CAA		taste receptor, type 2, member 9							54.0	55.0	54.0					12																	10962188		2203	4300	6503	SO:0001583	missense	50835				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10962188C>G	AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14917	protein-coding gene	gene with protein product		604795				10761934, 10766242	Standard	NM_023917		Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.487G>C	12.37:g.10962188C>G	ENSP00000240691:p.Glu163Gln					TAS2R8_uc010shh.1_5'Flank	p.E163Q	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN			1	580	-			163			Extracellular (Potential).		Q502V7|Q50KT0|Q50KT1|Q645W9	Missense_Mutation	SNP	ENST00000240691.2	37	c.487G>C	CCDS8633.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422022	0.25639	.	.	ENSG00000121381	ENST00000240691	T	0.00745	5.75	4.28	-1.64	0.08318	GPCR, rhodopsin-like superfamily (1);	1.167460	0.06774	U	0.783964	T	0.00724	0.0024	N	0.17674	0.51	0.09310	N	1	P	0.42039	0.769	B	0.42245	0.381	T	0.50676	-0.8800	10	0.15499	T	0.54	.	8.6298	0.33913	0.0:0.4515:0.0:0.5485	.	163	Q9NYW1	TA2R9_HUMAN	Q	163	ENSP00000240691:E163Q	ENSP00000240691:E163Q	E	-	1	0	TAS2R9	10853455	0.000000	0.05858	0.001000	0.08648	0.045000	0.14185	-1.880000	0.01627	-0.442000	0.07190	-0.157000	0.13467	GAA		0.378	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1				8	61	0	0	0	0.00308	0	8	61		
MANSC1	54682	broad.mit.edu	37	12	12491411	12491411	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:12491411C>T	ENST00000535902.1	-	3	870	c.307G>A	c.(307-309)Gag>Aag	p.E103K	MANSC1_ENST00000545735.1_Missense_Mutation_p.E22K|MANSC1_ENST00000396349.3_Missense_Mutation_p.E69K			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	103	MANSC. {ECO:0000255|PROSITE- ProRule:PRU00341}.					integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CAGGCTTCCTCGTTGGGACAG	0.383																																						uc001rai.1		NaN																	0					0						c.(307-309)GAG>AAG		MANSC domain containing 1 precursor							169.0	165.0	166.0					12																	12491411		2203	4300	6503	SO:0001583	missense	54682					integral to membrane		g.chr12:12491411C>T	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.307G>A	12.37:g.12491411C>T	ENSP00000438205:p.Glu103Lys					MANSC1_uc010shm.1_Missense_Mutation_p.E37K|MANSC1_uc001raj.1_Missense_Mutation_p.E69K|MANSC1_uc009zht.1_Missense_Mutation_p.E22K	p.E103K	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.185)	3	565	-		Prostate(47;0.0865)	103			MANSC.|Extracellular (Potential).		Q8NEC1|Q9NW60	Missense_Mutation	SNP	ENST00000535902.1	37	c.307G>A	CCDS8648.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231163	0.58777	.	.	ENSG00000111261	ENST00000535902;ENST00000396349;ENST00000355566;ENST00000545735	T;T;T	0.21191	2.02;2.02;2.02	5.78	4.89	0.63831	Seven cysteines (1);Seven cysteines, N-terminal (2);	0.464182	0.16070	N	0.231063	T	0.33147	0.0853	L	0.56769	1.78	0.31432	N	0.673018	D;D;D	0.63880	0.993;0.982;0.982	P;P;P	0.53988	0.739;0.657;0.522	T	0.37197	-0.9716	10	0.51188	T	0.08	-1.9695	10.6472	0.45628	0.0:0.9126:0.0:0.0874	.	37;69;103	B4DQ82;Q9NW60;Q9H8J5	.;.;MANS1_HUMAN	K	103;69;22;22	ENSP00000438205:E103K;ENSP00000379638:E69K;ENSP00000445303:E22K	ENSP00000347765:E22K	E	-	1	0	MANSC1	12382678	0.821000	0.29204	0.966000	0.40874	0.963000	0.63663	1.957000	0.40392	1.442000	0.47568	0.563000	0.77884	GAG		0.383	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1		NM_018050		5	159	0	0	0	0.001984	0	5	159		
PIK3C2G	5288	broad.mit.edu	37	12	18552648	18552648	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:18552648G>A	ENST00000266497.5	+	14	2097	c.2059G>A	c.(2059-2061)Gaa>Aaa	p.E687K	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.E687K|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E728K			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	687	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|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)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTGCAATAATGAAAACTGCTC	0.388																																						uc001rdt.2		NaN																	0				lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21						c.(2059-2061)GAA>AAA		phosphoinositide-3-kinase, class 2 gamma							97.0	96.0	97.0					12																	18552648		1822	4084	5906	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18552648G>A	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2059G>A	12.37:g.18552648G>A	ENSP00000266497:p.Glu687Lys					PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.E728K|PIK3C2G_uc010sic.1_Missense_Mutation_p.E506K	p.E687K	NM_004570	NP_004561	O75747	P3C2G_HUMAN			15	2175	+		Hepatocellular(102;0.194)	687					A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.2059G>A	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362054	0.41902	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.62639	0.01;0.01;0.01	5.18	3.29	0.37713	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.316091	0.27991	N	0.017033	T	0.47857	0.1468	L	0.34521	1.04	0.29041	N	0.885094	B;B;B	0.28178	0.202;0.169;0.202	B;B;B	0.34452	0.183;0.115;0.183	T	0.38134	-0.9675	10	0.11794	T	0.64	-9.681	8.856	0.35227	0.0832:0.4135:0.5033:0.0	.	727;728;687	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	K	687;687;728	ENSP00000404845:E687K;ENSP00000266497:E687K;ENSP00000445381:E728K	ENSP00000266497:E687K	E	+	1	0	PIK3C2G	18443915	1.000000	0.71417	0.830000	0.32933	0.990000	0.78478	1.293000	0.33353	0.715000	0.32103	0.585000	0.79938	GAA		0.388	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1		NM_004570		24	48	0	0	0	0.005443	0	24	48		
ABCC9	10060	broad.mit.edu	37	12	22063765	22063765	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:22063765G>C	ENST00000261201.4	-	7	1158	c.1159C>G	c.(1159-1161)Ctg>Gtg	p.L387V	ABCC9_ENST00000345162.2_Missense_Mutation_p.L387V|ABCC9_ENST00000261200.4_Missense_Mutation_p.L387V	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	387	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CATACCAGCAGAGCTCCACGG	0.393																																						uc001rfi.1		NaN																	0				ovary(4)|skin(2)	6						c.(1159-1161)CTG>GTG		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						108.0	111.0	110.0					12																	22063765		2203	4299	6502	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22063765G>C	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1159C>G	12.37:g.22063765G>C	ENSP00000261201:p.Leu387Val					ABCC9_uc001rfh.2_Missense_Mutation_p.L387V|ABCC9_uc001rfj.1_Missense_Mutation_p.L387V	p.L387V	NM_005691	NP_005682	O60706	ABCC9_HUMAN			7	1179	-			387			Cytoplasmic (Potential).|ABC transmembrane type-1 1.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.1159C>G	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	5.406	0.260109	0.10239	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97	4.82	0.697	0.18081	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.64402	D	0.000001	D	0.95098	0.8412	L	0.45698	1.435	0.46499	D	0.999073	B;D	0.63046	0.432;0.992	B;P	0.58780	0.26;0.845	D	0.91551	0.5257	10	0.35671	T	0.21	-9.6444	6.6975	0.23207	0.6192:0.0:0.3808:0.0	.	387;387	O60706;O60706-2	ABCC9_HUMAN;.	V	387;50;387;387	ENSP00000261200:L387V;ENSP00000440521:L50V;ENSP00000261201:L387V;ENSP00000261202:L387V	ENSP00000261200:L387V	L	-	1	2	ABCC9	21955032	1.000000	0.71417	0.903000	0.35520	0.839000	0.47603	3.926000	0.56491	0.263000	0.21812	-0.251000	0.11542	CTG		0.393	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1		NM_005691		7	105	0	0	0	0.008871	0	7	105		
FMNL3	91010	broad.mit.edu	37	12	50044977	50044977	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:50044977C>T	ENST00000293590.5	-	16	2004	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	FMNL3_ENST00000550488.1_Missense_Mutation_p.E591K|FMNL3_ENST00000352151.5_Missense_Mutation_p.E540K|FMNL3_ENST00000335154.5_Missense_Mutation_p.E591K			Q8IVF7	FMNL3_HUMAN	formin-like 3	591	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCATCAAGTTCGCTGAAGACA	0.512																																						uc001ruv.1		NaN																	0				breast(2)|pancreas(2)	4						c.(1771-1773)GAA>AAA		formin-like 3 isoform 1							107.0	102.0	104.0					12																	50044977		1958	4198	6156	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50044977C>T	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1771G>A	12.37:g.50044977C>T	ENSP00000293590:p.Glu591Lys					FMNL3_uc001ruw.1_Missense_Mutation_p.E540K|FMNL3_uc001rut.1_Missense_Mutation_p.E157K|FMNL3_uc001ruu.1_Missense_Mutation_p.E441K	p.E591K	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN			16	2005	-			591			FH2.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.1771G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.686425	0.96784	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.41	5.41	0.78517	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.156148	0.56097	D	0.000034	T	0.33206	0.0855	M	0.63428	1.95	0.80722	D	1	D;D;D	0.55385	0.967;0.964;0.971	P;B;P	0.55087	0.768;0.364;0.492	T	0.00837	-1.1546	10	0.27082	T	0.32	.	18.3387	0.90298	0.0:1.0:0.0:0.0	.	540;591;591	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	K	591;591;540;591	ENSP00000335655:E591K;ENSP00000447479:E591K;ENSP00000344311:E540K;ENSP00000293590:E591K	ENSP00000293590:E591K	E	-	1	0	FMNL3	48331244	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.794000	0.85869	2.699000	0.92147	0.655000	0.94253	GAA		0.512	FMNL3-201	KNOWN	basic	protein_coding	protein_coding			NM_175736		10	141	0	0	0	0.008291	0	10	141		
LIMA1	51474	broad.mit.edu	37	12	50642443	50642443	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:50642443G>A	ENST00000341247.4	-	2	241	c.92C>T	c.(91-93)tCa>tTa	p.S31L	LIMA1_ENST00000394943.3_Missense_Mutation_p.S31L	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	31					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						AATAGCCGATGACTTGTTCTT	0.438																																						uc001rwj.3		NaN																	0				ovary(1)	1						c.(91-93)TCA>TTA		LIM domain and actin binding 1 isoform b							167.0	146.0	153.0					12																	50642443		2203	4300	6503	SO:0001583	missense	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50642443G>A	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.92C>T	12.37:g.50642443G>A	ENSP00000340184:p.Ser31Leu					LIMA1_uc001rwk.3_Missense_Mutation_p.S31L|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	p.S31L	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN			2	266	-			31					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	c.92C>T	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506030	0.85282	.	.	ENSG00000050405	ENST00000394943;ENST00000341247;ENST00000551691;ENST00000550592	D;T	0.85556	-2.0;-1.26	4.8	4.8	0.61643	.	0.355074	0.26979	N	0.021531	D	0.90477	0.7017	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.63488	0.915;0.778	D	0.91392	0.5136	10	0.87932	D	0	-8.0441	15.6118	0.76727	0.0:0.0:1.0:0.0	.	40;31	Q59FE8;Q9UHB6	.;LIMA1_HUMAN	L	31	ENSP00000378400:S31L;ENSP00000340184:S31L	ENSP00000340184:S31L	S	-	2	0	LIMA1	48928710	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.314000	0.65804	2.599000	0.87857	0.655000	0.94253	TCA		0.438	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2		NM_016357		41	50	0	0	0	0.010771	0	41	50		
KRT79	338785	broad.mit.edu	37	12	53227849	53227849	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:53227849C>T	ENST00000330553.5	-	1	230	c.196G>A	c.(196-198)Ggg>Agg	p.G66R		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	66	Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTGTGGCCCCCCAAGTTATAG	0.642																																						uc001sbb.2		NaN																	0				ovary(2)|skin(2)	4						c.(196-198)GGG>AGG		keratin 6L							25.0	32.0	29.0					12																	53227849		2199	4292	6491	SO:0001583	missense	338785					keratin filament	structural molecule activity	g.chr12:53227849C>T	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.196G>A	12.37:g.53227849C>T	ENSP00000328358:p.Gly66Arg						p.G66R	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN			1	229	-			66			Head.		Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	c.196G>A	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.921668	0.33908	.	.	ENSG00000185640	ENST00000330553	D	0.82711	-1.64	4.46	2.62	0.31277	.	0.000000	0.50627	D	0.000116	T	0.81484	0.4832	M	0.71206	2.165	0.38631	D	0.951386	B	0.22983	0.078	B	0.29440	0.102	T	0.80518	-0.1347	10	0.66056	D	0.02	.	10.8364	0.46690	0.0:0.837:0.0:0.163	.	66	Q5XKE5	K2C79_HUMAN	R	66	ENSP00000328358:G66R	ENSP00000328358:G66R	G	-	1	0	KRT79	51514116	0.004000	0.15560	0.406000	0.26421	0.763000	0.43281	1.107000	0.31110	0.787000	0.33731	0.655000	0.94253	GGG		0.642	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1		NM_175834		28	31	0	0	0	0.007291	0	28	31		
ESPL1	9700	broad.mit.edu	37	12	53676185	53676185	+	Silent	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:53676185C>G	ENST00000257934.4	+	14	2848	c.2757C>G	c.(2755-2757)ctC>ctG	p.L919L	ESPL1_ENST00000552462.1_Silent_p.L919L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	919					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CAAACAACCTCTCACACTCCC	0.572																																					Colon(53;1069 1201 2587 5382)	uc001sck.2		NaN																	0				lung(1)|kidney(1)|skin(1)	3						c.(2755-2757)CTC>CTG		separase							87.0	72.0	77.0					12																	53676185		2203	4300	6503	SO:0001819	synonymous_variant	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53676185C>G	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.2757C>G	12.37:g.53676185C>G						ESPL1_uc001scj.2_Silent_p.L594L|ESPL1_uc010soe.1_Silent_p.L130L	p.L919L	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			14	2848	+			919						Silent	SNP	ENST00000257934.4	37	c.2757C>G	CCDS8852.1																																																																																				0.572	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2		NM_012291		5	63	0	0	0	0.001168	0	5	63		
TIMELESS	8914	broad.mit.edu	37	12	56825382	56825382	+	Missense_Mutation	SNP	C	C	T	rs573398564		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:56825382C>T	ENST00000553532.1	-	8	844	c.694G>A	c.(694-696)Gag>Aag	p.E232K	TIMELESS_ENST00000554616.1_Missense_Mutation_p.E232K|TIMELESS_ENST00000229201.4_Missense_Mutation_p.E231K					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GCCAGCTGCTCGGGGTTCTAG	0.517																																						uc001slf.2		NaN																	0				ovary(5)|breast(2)|pancreas(1)	8						c.(694-696)GAG>AAG		timeless homolog							58.0	56.0	57.0					12																	56825382		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56825382C>T	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.694G>A	12.37:g.56825382C>T	ENSP00000450607:p.Glu232Lys					TIMELESS_uc001slg.2_Missense_Mutation_p.E231K	p.E232K	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN			8	862	-			232						Missense_Mutation	SNP	ENST00000553532.1	37	c.694G>A	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021334	0.93462	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.47869	0.83;0.83;0.83	5.42	5.42	0.78866	Timeless protein (1);	0.051245	0.85682	D	0.000000	T	0.64560	0.2609	L	0.51853	1.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.97;0.983	T	0.64546	-0.6382	10	0.59425	D	0.04	-23.5803	18.3661	0.90391	0.0:1.0:0.0:0.0	.	231;232	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	K	231;232;232	ENSP00000229201:E231K;ENSP00000450607:E232K;ENSP00000450848:E232K	ENSP00000229201:E232K	E	-	1	0	TIMELESS	55111649	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	5.405000	0.66351	2.715000	0.92844	0.655000	0.94253	GAG		0.517	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1		NM_003920		4	60	0	0	0	0.000602	0	4	60		
CDK4	1019	broad.mit.edu	37	12	58144834	58144834	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:58144834G>C	ENST00000257904.6	-	4	759	c.394C>G	c.(394-396)Cat>Gat	p.H132D	CDK4_ENST00000549606.1_Intron|CDK4_ENST00000551888.1_Intron|CDK4_ENST00000312990.6_Intron|CDK4_ENST00000540325.1_Missense_Mutation_p.H12D	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	132	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CAATTGGCATGAAGGAAATCT	0.488			Mis			melanoma			Hereditary Melanoma																													uc001spv.2		NaN	yes	Dom		Familial malignant melanoma	12	12q14	1019	Mis	cyclin-dependent kinase 4			E		melanoma 			0				lung(1)|breast(1)|central_nervous_system(1)	3						c.(394-396)CAT>GAT		cyclin-dependent kinase 4							89.0	83.0	85.0					12																	58144834		2203	4300	6503	SO:0001583	missense	1019	Hereditary_Melanoma	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr12:58144834G>C	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"""Cyclin-dependent kinases"""	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.394C>G	12.37:g.58144834G>C	ENSP00000257904:p.His132Asp					CDK4_uc010ssb.1_Missense_Mutation_p.H12D|CDK4_uc001spw.2_Intron|uc010ssc.1_5'Flank	p.H132D	NM_000075	NP_000066	P11802	CDK4_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		4	621	-	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		132			Protein kinase.		B2R9A0|B4DNF9|O00576|Q6FG61	Missense_Mutation	SNP	ENST00000257904.6	37	c.394C>G	CCDS8953.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759428	0.69763	.	.	ENSG00000135446	ENST00000257904;ENST00000540325;ENST00000546489;ENST00000547281;ENST00000551800;ENST00000552254;ENST00000552388	D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	4.66	3.76	0.43208	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	0.93828	0.8026	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94802	0.7971	10	0.87932	D	0	.	12.3033	0.54887	0.0844:0.0:0.9156:0.0	.	132	P11802	CDK4_HUMAN	D	132;12;58;58;58;132;132	ENSP00000257904:H132D;ENSP00000439076:H12D;ENSP00000447779:H58D;ENSP00000447274:H58D;ENSP00000449391:H58D;ENSP00000449179:H132D;ENSP00000448963:H132D	ENSP00000257904:H132D	H	-	1	0	CDK4	56431101	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.365000	0.97139	1.319000	0.45190	0.655000	0.94253	CAT		0.488	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2		NM_000075		6	75	0	0	0	0.001168	0	6	75		
CDK4	1019	broad.mit.edu	37	12	58144855	58144855	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:58144855G>C	ENST00000257904.6	-	4	738	c.373C>G	c.(373-375)Cta>Gta	p.L125V	CDK4_ENST00000549606.1_Intron|CDK4_ENST00000551888.1_Intron|CDK4_ENST00000312990.6_Intron|CDK4_ENST00000540325.1_Missense_Mutation_p.L5V	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	125	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			AGGCCTCTTAGAAACTGGCGC	0.483			Mis			melanoma			Hereditary Melanoma																													uc001spv.2		NaN	yes	Dom		Familial malignant melanoma	12	12q14	1019	Mis	cyclin-dependent kinase 4			E		melanoma 			0				lung(1)|breast(1)|central_nervous_system(1)	3						c.(373-375)CTA>GTA		cyclin-dependent kinase 4							85.0	79.0	81.0					12																	58144855		2203	4300	6503	SO:0001583	missense	1019	Hereditary_Melanoma	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr12:58144855G>C	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"""Cyclin-dependent kinases"""	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.373C>G	12.37:g.58144855G>C	ENSP00000257904:p.Leu125Val					CDK4_uc010ssb.1_Missense_Mutation_p.L5V|CDK4_uc001spw.2_Intron|uc010ssc.1_5'Flank	p.L125V	NM_000075	NP_000066	P11802	CDK4_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		4	600	-	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		125			Protein kinase.		B2R9A0|B4DNF9|O00576|Q6FG61	Missense_Mutation	SNP	ENST00000257904.6	37	c.373C>G	CCDS8953.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479644	0.44044	.	.	ENSG00000135446	ENST00000257904;ENST00000540325;ENST00000546489;ENST00000547281;ENST00000551800;ENST00000552254;ENST00000552388	T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;1.8;1.8	4.76	3.86	0.44501	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.44180	0.1281	M	0.65320	2	0.80722	D	1	B	0.19200	0.034	B	0.25987	0.065	T	0.44667	-0.9313	10	0.46703	T	0.11	.	9.0778	0.36534	0.1505:0.0:0.8495:0.0	.	125	P11802	CDK4_HUMAN	V	125;5;51;51;51;125;125	ENSP00000257904:L125V;ENSP00000439076:L5V;ENSP00000447779:L51V;ENSP00000447274:L51V;ENSP00000449391:L51V;ENSP00000449179:L125V;ENSP00000448963:L125V	ENSP00000257904:L125V	L	-	1	2	CDK4	56431122	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.025000	0.70864	2.637000	0.89404	0.655000	0.94253	CTA		0.483	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2		NM_000075		4	68	0	0	0	0.000602	0	4	68		
SLC6A15	55117	broad.mit.edu	37	12	85266414	85266414	+	Silent	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:85266414G>C	ENST00000266682.5	-	8	1810	c.1269C>G	c.(1267-1269)ctC>ctG	p.L423L	SLC6A15_ENST00000309283.7_Silent_p.L131L|SLC6A15_ENST00000551388.1_5'Flank|SLC6A15_ENST00000552192.1_Silent_p.L316L	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	423					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TACAGGAATTGAGATGAAGAG	0.318																																						uc001szv.2		NaN																	0				pancreas(2)|ovary(1)	3						c.(1267-1269)CTC>CTG		solute carrier family 6, member 15 isoform 1							65.0	69.0	68.0					12																	85266414		2203	4297	6500	SO:0001819	synonymous_variant	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85266414G>C	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1269C>G	12.37:g.85266414G>C						SLC6A15_uc010sul.1_Silent_p.L316L|SLC6A15_uc001szw.1_Silent_p.L131L	p.L423L	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN			8	1762	-			423			Extracellular (Potential).		A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Silent	SNP	ENST00000266682.5	37	c.1269C>G	CCDS9026.1																																																																																				0.318	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1		NM_018057, NM_182767		29	48	0	0	0	0.012213	0	29	48		
PLXNC1	10154	broad.mit.edu	37	12	94543416	94543416	+	Silent	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:94543416C>G	ENST00000258526.4	+	1	918	c.669C>G	c.(667-669)ctC>ctG	p.L223L		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	223	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGGGGCGCCTCAAGCTGTGCG	0.687																																						uc001tdc.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(667-669)CTC>CTG		plexin C1 precursor							24.0	27.0	26.0					12																	94543416		2162	4275	6437	SO:0001819	synonymous_variant	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94543416C>G	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.669C>G	12.37:g.94543416C>G							p.L223L	NM_005761	NP_005752	O60486	PLXC1_HUMAN			1	918	+			223			Extracellular (Potential).|Sema.		Q59H25	Silent	SNP	ENST00000258526.4	37	c.669C>G	CCDS9049.1																																																																																				0.687	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2				3	3	0	0	0	0.004672	0	3	3		
SYCP3	50511	broad.mit.edu	37	12	102122982	102122982	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:102122982C>T	ENST00000392927.3	-	8	693	c.562G>A	c.(562-564)Gag>Aag	p.E188K	SYCP3_ENST00000266743.2_Missense_Mutation_p.E188K|SYCP3_ENST00000392924.1_Missense_Mutation_p.E188K	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	188	Gln-rich.				male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TTCTCCAACTCTTCCATACTC	0.289																																						uc001tiq.2		NaN																	0					0						c.(562-564)GAG>AAG		synaptonemal complex protein 3							70.0	72.0	71.0					12																	102122982		2199	4286	6485	SO:0001583	missense	50511				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding	g.chr12:102122982C>T	AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.562G>A	12.37:g.102122982C>T	ENSP00000376658:p.Glu188Lys					CHPT1_uc001tip.1_3'UTR|SYCP3_uc001tir.2_Missense_Mutation_p.E188K|SYCP3_uc001tis.2_Missense_Mutation_p.E188K	p.E188K	NM_153694	NP_710161	Q8IZU3	SYCP3_HUMAN			8	694	-			188			Potential.|Gln-rich.			Missense_Mutation	SNP	ENST00000392927.3	37	c.562G>A	CCDS9087.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471817	0.84533	.	.	ENSG00000139351	ENST00000266743;ENST00000392927;ENST00000392924	.	.	.	5.8	5.8	0.92144	.	0.334509	0.30347	N	0.009822	T	0.62146	0.2404	L	0.61218	1.895	0.58432	D	0.999992	P	0.45634	0.863	B	0.43701	0.428	T	0.61652	-0.7019	9	0.39692	T	0.17	-11.4492	20.055	0.97649	0.0:1.0:0.0:0.0	.	188	Q8IZU3	SYCP3_HUMAN	K	188	.	ENSP00000266743:E188K	E	-	1	0	SYCP3	100647113	1.000000	0.71417	0.280000	0.24747	0.806000	0.45545	5.141000	0.64814	2.743000	0.94032	0.455000	0.32223	GAG		0.289	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316478.2		NM_153694		25	37	0	0	0	0.007291	0	25	37		
HCFC2	29915	broad.mit.edu	37	12	104487163	104487163	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:104487163G>A	ENST00000229330.4	+	10	1388		c.e10-1		HCFC2_ENST00000550335.1_Splice_Site	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)	p.?(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ATTTCTTGTAGATCAATGATA	0.279																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	uc001tkj.3		NaN																	1	Unknown(1)		breast(1)	ovary(2)|central_nervous_system(1)	3						c.e10-1		host cell factor C2							56.0	53.0	54.0					12																	104487163		2203	4298	6501	SO:0001630	splice_region_variant	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104487163G>A	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1285-1G>A	12.37:g.104487163G>A						HCFC2_uc009zul.2_Splice_Site	p.I429_splice	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN			10	1388	+								B2R8Q5|C0H5X3	Splice_Site	SNP	ENST00000229330.4	37	c.1285_splice	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	G	9.055	0.993170	0.19043	.	.	ENSG00000111727	ENST00000229330	.	.	.	5.28	3.43	0.39272	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3491	0.26680	0.1948:0.0:0.8052:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HCFC2	103011293	1.000000	0.71417	0.915000	0.36163	0.311000	0.27955	2.962000	0.49176	1.351000	0.45789	0.591000	0.81541	.		0.279	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1		NM_013320	Intron	7	49	0	0	0	0.001984	0	7	49		
MMAB	326625	broad.mit.edu	37	12	110002929	110002929	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:110002929G>A	ENST00000545712.2	-	4	736	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	RNU4-32P_ENST00000363404.1_RNA|MMAB_ENST00000540016.1_Nonsense_Mutation_p.Q63*|MMAB_ENST00000266839.5_Nonsense_Mutation_p.Q24*	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	115					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCACTTTCTGAAGCTCTTCG	0.468																																						uc001tou.2		NaN																	0					0						c.(343-345)CAG>TAG		cob(I)alamin adenosyltransferase precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						199.0	184.0	189.0					12																	110002929		2203	4300	6503	SO:0001587	stop_gained	326625				cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity	g.chr12:110002929G>A	AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"""ATP:cob(I)alamin adenosyltransferase"", ""cilia and flagella associated protein 23"""	607568	"""methylmalonic aciduria (cobalamin deficiency) type B"""			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.343C>T	12.37:g.110002929G>A	ENSP00000445920:p.Gln115*					MMAB_uc001tov.2_RNA|MMAB_uc001tow.2_RNA|MMAB_uc010sxq.1_Nonsense_Mutation_p.Q24*|MMAB_uc001tox.2_Nonsense_Mutation_p.Q63*	p.Q115*	NM_052845	NP_443077	Q96EY8	MMAB_HUMAN			4	416	-			115					C5HU05|Q9BSH0	Nonsense_Mutation	SNP	ENST00000545712.2	37	c.343C>T	CCDS9131.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756437	0.89843	.	.	ENSG00000139428	ENST00000545712;ENST00000266839;ENST00000542390	.	.	.	4.32	-1.64	0.08318	.	0.268540	0.35739	N	0.003020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-5.3601	16.7633	0.85517	0.0:0.6439:0.3561:0.0	.	.	.	.	X	115;24;115	.	ENSP00000266839:Q24X	Q	-	1	0	MMAB	108487312	1.000000	0.71417	0.986000	0.45419	0.764000	0.43329	2.276000	0.43408	-0.092000	0.12417	0.555000	0.69702	CAG		0.468	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403128.2				19	226	0	0	0	0.003954	0	19	226		
NAA25	80018	broad.mit.edu	37	12	112512548	112512548	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:112512548T>C	ENST00000261745.4	-	9	1045	c.797A>G	c.(796-798)tAt>tGt	p.Y266C		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	266						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ATAAGTCAGATAGAACTGCCA	0.398																																						uc001ttm.2		NaN																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(796-798)TAT>TGT		mitochondrial distribution and morphology 20							96.0	94.0	94.0					12																	112512548		2203	4300	6503	SO:0001583	missense	80018					cytoplasm	protein binding	g.chr12:112512548T>C	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.797A>G	12.37:g.112512548T>C	ENSP00000261745:p.Tyr266Cys					NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.Y238C|NAA25_uc009zwa.1_Missense_Mutation_p.Y266C	p.Y266C	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN			9	817	-			266					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	c.797A>G	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.610823	0.87258	.	.	ENSG00000111300	ENST00000261745	T	0.45276	0.9	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.67496	0.2899	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.71170	-0.4671	10	0.51188	T	0.08	-12.8541	15.8741	0.79148	0.0:0.0:0.0:1.0	.	266;266	A8K8X0;Q14CX7	.;NAA25_HUMAN	C	266	ENSP00000261745:Y266C	ENSP00000261745:Y266C	Y	-	2	0	NAA25	110996931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.635000	0.83286	2.154000	0.67381	0.533000	0.62120	TAT		0.398	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1		NM_024953		72	106	0	0	0	0.01441	0	72	106		
OASL	8638	broad.mit.edu	37	12	121465572	121465572	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:121465572G>C	ENST00000257570.5	-	4	976	c.706C>G	c.(706-708)Ctt>Gtt	p.L236V	OASL_ENST00000339275.5_Intron	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	236					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)					AGAAGTTCAAGAGCATAGAGA	0.488																																					Colon(192;517 2041 31392 31913 39966)	uc001tzj.1		NaN																	0				skin(1)	1						c.(706-708)CTT>GTT		2'-5'-oligoadenylate synthetase-like isoform a							76.0	66.0	69.0					12																	121465572		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.chr12:121465572G>C	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.706C>G	12.37:g.121465572G>C	ENSP00000257570:p.Leu236Val					OASL_uc001tzk.1_Intron	p.L236V	NM_003733	NP_003724	Q15646	OASL_HUMAN			4	712	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		236					B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	ENST00000257570.5	37	c.706C>G	CCDS9211.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966354	0.34659	.	.	ENSG00000135114	ENST00000257570	T	0.61859	0.07	5.48	4.58	0.56647	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	0.161196	0.29579	N	0.011752	T	0.77075	0.4077	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.80957	-0.1150	10	0.87932	D	0	-26.0358	11.6035	0.51017	0.0:0.0:0.8228:0.1772	.	236	Q15646	OASL_HUMAN	V	236	ENSP00000257570:L236V	ENSP00000257570:L236V	L	-	1	0	OASL	119949955	1.000000	0.71417	0.569000	0.28460	0.008000	0.06430	3.972000	0.56838	1.535000	0.49220	0.655000	0.94253	CTT		0.488	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2		NM_003733		3	78	0	0	0	0.009096	0	3	78		
HCAR1	27198	broad.mit.edu	37	12	123214255	123214255	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:123214255C>G	ENST00000436083.2	-	1	1135	c.632G>C	c.(631-633)aGa>aCa	p.R211T	HCAR1_ENST00000356987.2_Missense_Mutation_p.R211T|HCAR1_ENST00000432564.1_Missense_Mutation_p.R211T			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	211					response to estradiol (GO:0032355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						CCGAGCCTGTCTGGCCAGCTG	0.527																																						uc001ucz.2		NaN																	0					0						c.(631-633)AGA>ACA		G protein-coupled receptor 81							59.0	55.0	56.0					12																	123214255		2203	4300	6503	SO:0001583	missense	27198				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:123214255C>G	AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	4532	protein-coding gene	gene with protein product	"""lactate receptor 1"""	606923	"""G protein-coupled receptor 104"", ""G protein-coupled receptor 81"""	GPR104, GPR81		11574155, 19047060, 18952058, 21454438	Standard	NM_032554		Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.632G>C	12.37:g.123214255C>G	ENSP00000409980:p.Arg211Thr					GPR81_uc001ucw.1_RNA	p.R211T	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)	1	875	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		211			Cytoplasmic (Potential).		B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Missense_Mutation	SNP	ENST00000436083.2	37	c.632G>C	CCDS9236.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533683	0.64972	.	.	ENSG00000196917	ENST00000356987;ENST00000432564;ENST00000436083	T;T;T	0.37058	1.22;1.22;1.22	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.175198	0.42172	D	0.000753	T	0.57446	0.2054	M	0.62209	1.925	0.33538	D	0.59456	D	0.71674	0.998	D	0.72625	0.978	T	0.67409	-0.5678	10	0.49607	T	0.09	-9.8079	16.521	0.84317	0.0:1.0:0.0:0.0	.	211	Q9BXC0	HCAR1_HUMAN	T	211	ENSP00000349478:R211T;ENSP00000389255:R211T;ENSP00000409980:R211T	ENSP00000349478:R211T	R	-	2	0	HCAR1	121780208	0.000000	0.05858	0.834000	0.33040	0.992000	0.81027	0.682000	0.25335	2.474000	0.83562	0.655000	0.94253	AGA		0.527	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401415.1				28	38	0	0	0	0.012213	0	28	38		
HCAR1	27198	broad.mit.edu	37	12	123214498	123214498	+	Missense_Mutation	SNP	C	C	T	rs370201170		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:123214498C>T	ENST00000436083.2	-	1	892	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	HCAR1_ENST00000356987.2_Missense_Mutation_p.R130Q|HCAR1_ENST00000432564.1_Missense_Mutation_p.R130Q			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	130					response to estradiol (GO:0032355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R130Q(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						AGCCGCCACCCGGGTGGAGAT	0.602																																						uc001ucz.2		NaN																	1	Substitution - Missense(1)		endometrium(1)		0						c.(388-390)CGG>CAG		G protein-coupled receptor 81							55.0	57.0	56.0					12																	123214498		2203	4300	6503	SO:0001583	missense	27198				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:123214498C>T	AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	4532	protein-coding gene	gene with protein product	"""lactate receptor 1"""	606923	"""G protein-coupled receptor 104"", ""G protein-coupled receptor 81"""	GPR104, GPR81		11574155, 19047060, 18952058, 21454438	Standard	NM_032554		Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.389G>A	12.37:g.123214498C>T	ENSP00000409980:p.Arg130Gln					GPR81_uc001ucw.1_RNA	p.R130Q	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)	1	632	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		130			Cytoplasmic (Potential).		B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Missense_Mutation	SNP	ENST00000436083.2	37	c.389G>A	CCDS9236.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599512	0.46318	.	.	ENSG00000196917	ENST00000356987;ENST00000432564;ENST00000436083	T;T;T	0.41758	0.99;0.99;0.99	5.29	5.29	0.74685	GPCR, rhodopsin-like superfamily (1);	0.287782	0.28834	N	0.013985	T	0.46541	0.1398	M	0.76328	2.33	0.44155	D	0.996958	B	0.24483	0.104	B	0.19391	0.025	T	0.44967	-0.9293	10	0.48119	T	0.1	-14.5368	16.4223	0.83771	0.0:1.0:0.0:0.0	.	130	Q9BXC0	HCAR1_HUMAN	Q	130	ENSP00000349478:R130Q;ENSP00000389255:R130Q;ENSP00000409980:R130Q	ENSP00000349478:R130Q	R	-	2	0	HCAR1	121780451	0.000000	0.05858	0.727000	0.30756	0.356000	0.29392	0.393000	0.20817	2.452000	0.82932	0.655000	0.94253	CGG		0.602	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401415.1				43	54	0	0	0	0.01441	0	43	54		
FLT3	2322	broad.mit.edu	37	13	28601286	28601286	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr13:28601286C>G	ENST00000241453.7	-	17	2227	c.2146G>C	c.(2146-2148)Gag>Cag	p.E716Q	FLT3_ENST00000380982.4_Missense_Mutation_p.E716Q|FLT3_ENST00000537084.1_Missense_Mutation_p.E716Q	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	716	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTGAAAATCTCTGTCCAAGTC	0.358			"""Mis, O"""		"""AML, ALL"""																																	uc001urw.2		NaN		Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		0				haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(2146-2148)GAG>CAG		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						164.0	168.0	167.0					13																	28601286		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28601286C>G	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2146G>C	13.37:g.28601286C>G	ENSP00000241453:p.Glu716Gln					FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.E716Q	p.E716Q	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	17	2228	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	716			Protein kinase.|Cytoplasmic (Potential).		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.2146G>C	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971128	0.92919	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	D;D;D	0.89050	-2.46;-2.46;-2.46	6.03	6.03	0.97812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.078366	0.53938	D	0.000047	D	0.90669	0.7073	N	0.20610	0.595	0.58432	D	0.999994	D;B	0.71674	0.998;0.408	D;P	0.68621	0.959;0.536	D	0.91021	0.4857	10	0.54805	T	0.06	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	716;716	P36888-2;P36888	.;FLT3_HUMAN	Q	716	ENSP00000241453:E716Q;ENSP00000370369:E716Q;ENSP00000438139:E716Q	ENSP00000241453:E716Q	E	-	1	0	FLT3	27499286	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.796000	0.62496	2.861000	0.98227	0.655000	0.94253	GAG		0.358	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2				18	244	0	0	0	0.014323	0	18	244		
FRY	10129	broad.mit.edu	37	13	32757127	32757127	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr13:32757127G>C	ENST00000380250.3	+	24	3506	c.3010G>C	c.(3010-3012)Gaa>Caa	p.E1004Q		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1004						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATTGGTAGAAGAACTTCATCC	0.313																																						uc001utx.2		NaN																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(3010-3012)GAA>CAA		furry homolog							59.0	58.0	58.0					13																	32757127		1798	4067	5865	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32757127G>C	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.3010G>C	13.37:g.32757127G>C	ENSP00000369600:p.Glu1004Gln					FRY_uc010tdw.1_RNA	p.E1004Q	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	24	3506	+		Lung SC(185;0.0271)	1004					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.3010G>C	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681883	0.88542	.	.	ENSG00000073910	ENST00000380250	T	0.65732	-0.17	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.79197	0.4405	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	D	0.63703	0.917	T	0.81311	-0.0990	10	0.62326	D	0.03	.	19.1464	0.93471	0.0:0.0:1.0:0.0	.	1004	Q5TBA9	FRY_HUMAN	Q	1004	ENSP00000369600:E1004Q	ENSP00000369600:E1004Q	E	+	1	0	FRY	31655127	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.708000	0.98727	2.569000	0.86673	0.655000	0.94253	GAA		0.313	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1		NM_023037		7	78	0	0	0	0.001984	0	7	78		
ITM2B	9445	broad.mit.edu	37	13	48832951	48832951	+	Missense_Mutation	SNP	C	C	G	rs11556901		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr13:48832951C>G	ENST00000378565.5	+	5	786	c.583C>G	c.(583-585)Cag>Gag	p.Q195E	ITM2B_ENST00000378549.5_Missense_Mutation_p.Q89E	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	195	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|nervous system development (GO:0007399)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle membrane (GO:0030660)|integral component of organelle membrane (GO:0031301)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		CTATTTGCCTCAGTCCTATCT	0.373																																						uc001vbz.3		NaN																	0					0						c.(583-585)CAG>GAG		integral membrane protein 2B							166.0	137.0	147.0					13																	48832951		2203	4300	6503	SO:0001583	missense	9445				nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding	g.chr13:48832951C>G	AF092128	CCDS9409.1	13q14.2	2012-10-10			ENSG00000136156	ENSG00000136156		"""BRICHOS domain containing"""	6174	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2B"""	603904				9795190	Standard	NM_021999		Approved	BRI, E25B, E3-16, BRICD2B	uc001vbz.3	Q9Y287	OTTHUMG00000016894	ENST00000378565.5:c.583C>G	13.37:g.48832951C>G	ENSP00000367828:p.Gln195Glu						p.Q195E	NM_021999	NP_068839	Q9Y287	ITM2B_HUMAN		GBM - Glioblastoma multiforme(144;1.97e-06)	5	806	+		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	195			BRICHOS.|Lumenal (Potential).		Q5W0A3|Q96B24|Q9NYH1	Missense_Mutation	SNP	ENST00000378565.5	37	c.583C>G	CCDS9409.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608798	0.87258	.	.	ENSG00000136156	ENST00000378565;ENST00000378549	T;T	0.79247	-1.25;-1.25	5.63	5.63	0.86233	BRICHOS (2);	0.053246	0.85682	D	0.000000	D	0.88872	0.6555	M	0.87269	2.87	0.58432	D	0.999999	D	0.57257	0.979	P	0.61658	0.892	D	0.89503	0.3765	10	0.52906	T	0.07	-2.8004	18.6843	0.91558	0.0:1.0:0.0:0.0	.	195	Q9Y287	ITM2B_HUMAN	E	195;89	ENSP00000367828:Q195E;ENSP00000367811:Q89E	ENSP00000367811:Q89E	Q	+	1	0	ITM2B	47730952	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.436000	0.80404	2.654000	0.90174	0.650000	0.86243	CAG		0.373	ITM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044870.3		NM_021999		5	61	0	0	0	0.001984	0	5	61		
RB1	5925	broad.mit.edu	37	13	48934194	48934194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr13:48934194C>T	ENST00000267163.4	+	7	787	c.649C>T	c.(649-651)Cag>Tag	p.Q217*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	217					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)|p.Q217*(4)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GATTTCATTTCAGTTAATGCT	0.308		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		25	Whole gene deletion(15)|Unknown(6)|Substitution - Nonsense(4)	p.?(5)|p.Q217*(2)	bone(11)|breast(5)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|eye(1)|soft_tissue(1)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358						c.(649-651)CAG>TAG		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						106.0	106.0	106.0					13																	48934194		2203	4299	6502	SO:0001587	stop_gained	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48934194C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.649C>T	13.37:g.48934194C>T	ENSP00000267163:p.Gln217*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010acs.1_RNA|RB1_uc010act.1_5'UTR	p.Q217*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	7	815	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	217					A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.649C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	34	5.298380	0.95574	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.357	0.90361	0.0:1.0:0.0:0.0	.	.	.	.	X	196;217	.	ENSP00000267163:Q217X	Q	+	1	0	RB1	47832195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.271000	0.65553	2.631000	0.89168	0.650000	0.86243	CAG		0.308	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1				67	17	0	0	0	0.01441	0	67	17		
CKAP2	26586	broad.mit.edu	37	13	53039469	53039469	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr13:53039469C>T	ENST00000378037.5	+	6	1438	c.1348C>T	c.(1348-1350)Ctg>Ttg	p.L450L	CKAP2_ENST00000490903.1_Silent_p.L401L|CKAP2_ENST00000258607.5_Silent_p.L449L|CKAP2_ENST00000378034.3_Silent_p.L449L	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2											breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		ACTGAATGACCTGATTAAAAA	0.303																																						uc001vgv.2		NaN																	0				ovary(1)|skin(1)	2						c.(1348-1350)CTG>TTG		cytoskeleton associated protein 2 isoform 2							92.0	94.0	93.0					13																	53039469		2203	4299	6502	SO:0001819	synonymous_variant	26586				apoptosis|cell cycle	centrosome|microtubule|spindle pole		g.chr13:53039469C>T	AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.1348C>T	13.37:g.53039469C>T						CKAP2_uc001vgt.2_Silent_p.L449L|CKAP2_uc001vgu.2_Silent_p.L449L|CKAP2_uc010tha.1_Silent_p.L401L	p.L450L	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN		GBM - Glioblastoma multiforme(99;2.6e-08)	6	1545	+		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	450						Silent	SNP	ENST00000378037.5	37	c.1348C>T	CCDS41893.1																																																																																				0.303	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2				5	173	0	0	0	0.001984	0	5	173		
PCDH8	5100	broad.mit.edu	37	13	53420766	53420766	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr13:53420766C>G	ENST00000377942.3	-	1	2009	c.1806G>C	c.(1804-1806)caG>caC	p.Q602H	PCDH8_ENST00000338862.4_Missense_Mutation_p.Q602H	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	602	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CATGGTCGTTCTGGTCCAGCA	0.662																																					GBM(36;25 841 9273 49207)	uc001vhi.2		NaN																	0				breast(1)	1						c.(1804-1806)CAG>CAC		protocadherin 8 isoform 1 precursor							14.0	15.0	15.0					13																	53420766		2192	4288	6480	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53420766C>G	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.1806G>C	13.37:g.53420766C>G	ENSP00000367177:p.Gln602His					PCDH8_uc001vhj.2_Missense_Mutation_p.Q602H	p.Q602H	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	2009	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	602			Extracellular (Potential).|Cadherin 5.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.1806G>C	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747983	0.69533	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000448969	T;T	0.60548	0.18;0.18	4.01	4.01	0.46588	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.355912	0.20484	N	0.091436	T	0.80449	0.4625	M	0.91196	3.185	0.80722	D	1	D;D	0.71674	0.998;0.992	D;P	0.70016	0.967;0.88	D	0.85962	0.1471	10	0.87932	D	0	.	16.3142	0.82909	0.0:1.0:0.0:0.0	.	602;602	O95206-2;O95206	.;PCDH8_HUMAN	H	602;602;445	ENSP00000367177:Q602H;ENSP00000341350:Q602H	ENSP00000341350:Q602H	Q	-	3	2	PCDH8	52318767	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.685000	0.54678	2.069000	0.61940	0.511000	0.50034	CAG		0.662	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2		NM_002590		5	10	0	0	0	0.00308	0	5	10		
DZIP1	22873	broad.mit.edu	37	13	96246297	96246297	+	Silent	SNP	T	T	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr13:96246297T>C	ENST00000376829.2	-	16	2432	c.1581A>G	c.(1579-1581)ttA>ttG	p.L527L	DZIP1_ENST00000347108.3_Silent_p.L527L|DZIP1_ENST00000361396.2_Silent_p.L508L|DZIP1_ENST00000361156.3_Silent_p.L508L	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	527					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AAGCTTTCCTTAAATGCATTT	0.333																																						uc001vmk.2		NaN																	0				ovary(2)	2						c.(1579-1581)TTA>TTG		DAZ interacting protein 1 isoform 2							167.0	141.0	150.0					13																	96246297		2203	4300	6503	SO:0001819	synonymous_variant	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96246297T>C	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.1581A>G	13.37:g.96246297T>C						DZIP1_uc001vmj.2_Silent_p.L3L|DZIP1_uc001vml.2_Silent_p.L508L	p.L527L	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		16	2433	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		527					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Silent	SNP	ENST00000376829.2	37	c.1581A>G	CCDS9478.1																																																																																				0.333	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3		NM_014934		34	66	0	0	0	0.012213	0	34	66		
GAS6	2621	broad.mit.edu	37	13	114523972	114523972	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr13:114523972C>T	ENST00000327773.6	-	15	2048	c.1902G>A	c.(1900-1902)gcG>gcA	p.A634A	GAS6_ENST00000355761.4_Silent_p.A580A|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000357389.3_Silent_p.A677A|GAS6_ENST00000450766.1_Silent_p.A361A|GAS6_ENST00000418959.3_Silent_p.A335A	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	677	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CGGTGACTGGCGCTGAAGTCA	0.672																																						uc001vud.2		NaN																	0				central_nervous_system(4)	4						c.(1900-1902)GCG>GCA		growth arrest-specific 6 isoform 1 precursor							46.0	41.0	42.0					13																	114523972		2203	4298	6501	SO:0001819	synonymous_variant	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114523972C>T		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.1902G>A	13.37:g.114523972C>T						GAS6_uc001vug.2_Silent_p.A335A|GAS6_uc001vuf.2_Silent_p.A361A	p.A634A	NM_000820	NP_000811	Q14393	GAS6_HUMAN			15	2055	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	677			Laminin G-like 2.		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Silent	SNP	ENST00000327773.6	37	c.1902G>A	CCDS45072.1																																																																																				0.672	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2		NM_000820		4	67	0	0	0	0.001984	0	4	67		
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	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	14	0	0	0	0.004672	0	3	14		
SALL2	6297	broad.mit.edu	37	14	21993420	21993420	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:21993420C>T	ENST00000327430.3	-	2	736	c.442G>A	c.(442-444)Gga>Aga	p.G148R	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Intron|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	148					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(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GGGGTTGCTCCCAGCTTGGGA	0.652																																						uc001wbe.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(442-444)GGA>AGA		sal-like 2							36.0	40.0	39.0					14																	21993420		2203	4300	6503	SO:0001583	missense	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21993420C>T	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.442G>A	14.37:g.21993420C>T	ENSP00000333537:p.Gly148Arg					SALL2_uc010tly.1_Missense_Mutation_p.G146R|SALL2_uc010tlz.1_Intron|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Intron|SALL2_uc001wbg.1_Intron	p.G148R	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	724	-	all_cancers(95;0.000662)		148					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	c.442G>A	CCDS32045.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.229934	0.58777	.	.	ENSG00000165821	ENST00000327430;ENST00000541876;ENST00000537235;ENST00000541965	T;T;T	0.50277	3.81;1.11;0.75	4.35	4.35	0.52113	.	0.000000	0.37906	N	0.001893	T	0.63390	0.2507	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.67106	-0.5754	10	0.87932	D	0	-8.8936	14.4005	0.67041	0.0:1.0:0.0:0.0	.	146;148	B4DFD9;Q9Y467	.;SALL2_HUMAN	R	148;148;146;86	ENSP00000333537:G148R;ENSP00000438493:G146R;ENSP00000439654:G86R	ENSP00000333537:G148R	G	-	1	0	SALL2	21063260	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.261000	0.51530	2.258000	0.74832	0.655000	0.94253	GGA		0.652	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1		NM_005407		46	73	0	0	0	0.01441	0	46	73		
HECTD1	25831	broad.mit.edu	37	14	31626439	31626439	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:31626439C>T	ENST00000399332.1	-	11	2181	c.1693G>A	c.(1693-1695)Gat>Aat	p.D565N	HECTD1_ENST00000553700.1_Missense_Mutation_p.D565N	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	565					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)		ACATCAGAATCACAAACTTCT	0.338																																						uc001wrc.1		NaN																	0				ovary(3)|large_intestine(1)|lung(1)	5						c.(1693-1695)GAT>AAT		HECT domain containing 1							161.0	154.0	156.0					14																	31626439		1848	4094	5942	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31626439C>T	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.1693G>A	14.37:g.31626439C>T	ENSP00000382269:p.Asp565Asn					HECTD1_uc001wrd.1_Missense_Mutation_p.D80N	p.D565N	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)	11	2182	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		565					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.1693G>A	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123679	0.56613	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957;ENST00000556224	T;T;T;T	0.65178	-0.14;-0.14;1.52;-0.14	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.043629	0.85682	D	0.000000	T	0.37183	0.0994	N	0.02539	-0.55	0.58432	D	0.999998	B;B	0.24186	0.022;0.099	B;B	0.22601	0.006;0.04	T	0.36866	-0.9730	10	0.15499	T	0.54	-20.4802	16.2608	0.82541	0.0:0.8683:0.1316:0.0	.	565;565	D3DS86;Q9ULT8	.;HECD1_HUMAN	N	565;565;565;39;565	ENSP00000450697:D565N;ENSP00000382269:D565N;ENSP00000451860:D39N;ENSP00000452015:D565N	ENSP00000261312:D565N	D	-	1	0	HECTD1	30696190	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.005000	0.70716	2.941000	0.99782	0.655000	0.94253	GAT		0.338	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1				74	87	0	0	0	0.01441	0	74	87		
KTN1	3895	broad.mit.edu	37	14	56142555	56142555	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:56142555G>A	ENST00000395314.3	+	41	3842	c.3774G>A	c.(3772-3774)ttG>ttA	p.L1258L	KTN1_ENST00000395311.1_Silent_p.L1207L|KTN1_ENST00000395309.3_Silent_p.L1258L|KTN1_ENST00000554507.1_Silent_p.L496L|KTN1_ENST00000395308.1_Silent_p.L1207L|KTN1_ENST00000555573.1_Silent_p.L235L|KTN1_ENST00000438792.2_Silent_p.L1201L|KTN1_ENST00000413890.2_Silent_p.L1207L|KTN1_ENST00000416613.1_Silent_p.L1258L	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1258					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TTTTACAGTTGAAGGCACAGT	0.368			T	RET	papillary thryoid																																	uc001xcb.2		NaN		Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		0				breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						c.(3772-3774)TTG>TTA		kinectin 1 isoform a							131.0	119.0	123.0					14																	56142555		2203	4300	6503	SO:0001819	synonymous_variant	3895				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56142555G>A		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.3774G>A	14.37:g.56142555G>A						KTN1_uc001xce.2_Silent_p.L1201L|KTN1_uc001xcc.2_Silent_p.L1258L|KTN1_uc001xcd.2_Silent_p.L1207L|KTN1_uc010trb.1_Silent_p.L1230L|KTN1_uc001xcf.1_Silent_p.L1207L|KTN1_uc010aoq.2_Silent_p.L496L|KTN1_uc010trc.1_Silent_p.L235L|KTN1_uc001xcg.2_Silent_p.L191L	p.L1258L	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN			42	4076	+			1258			Lumenal (Potential).|Potential.		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Silent	SNP	ENST00000395314.3	37	c.3774G>A	CCDS41957.1																																																																																				0.368	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2				22	32	0	0	0	0.014323	0	22	32		
KIAA0586	9786	broad.mit.edu	37	14	58954657	58954657	+	Silent	SNP	T	T	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:58954657T>G	ENST00000556134.1	+	24	3586	c.3312T>G	c.(3310-3312)acT>acG	p.T1104T	KIAA0586_ENST00000261244.5_Silent_p.T1043T|KIAA0586_ENST00000354386.6_Silent_p.T1172T|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000423743.3_Silent_p.T1075T	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	1104					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTACCCCTACTACTACACCTC	0.418																																						uc001xdv.3		NaN																	0				ovary(1)	1						c.(3127-3129)ACT>ACG		talpid3 protein							63.0	62.0	62.0					14																	58954657		1854	4085	5939	SO:0001819	synonymous_variant	9786							g.chr14:58954657T>G	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.3312T>G	14.37:g.58954657T>G						KIAA0586_uc010trr.1_Silent_p.T1160T|KIAA0586_uc001xdt.3_Silent_p.T1075T|KIAA0586_uc001xdu.3_Silent_p.T1104T|KIAA0586_uc010trs.1_Silent_p.T1034T|KIAA0586_uc010trt.1_Silent_p.T979T|KIAA0586_uc010tru.1_Silent_p.T979T	p.T1043T	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN			22	3402	+			1043					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Silent	SNP	ENST00000556134.1	37	c.3129T>G	CCDS58321.1																																																																																				0.418	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1		NM_014749		10	19	0	0	0	0.010729	0	10	19		
SYNE2	23224	broad.mit.edu	37	14	64619413	64619413	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:64619413G>C	ENST00000344113.4	+	85	15983	c.15771G>C	c.(15769-15771)aaG>aaC	p.K5257N	SYNE2_ENST00000357395.3_Missense_Mutation_p.K1642N|SYNE2_ENST00000394768.2_Missense_Mutation_p.K1642N|SYNE2_ENST00000554584.1_Missense_Mutation_p.K5174N|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.K5257N|SYNE2_ENST00000555002.1_Missense_Mutation_p.K1891N	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5257					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)		TATTTCAAAAGAGAAGCAGTG	0.373																																						uc001xgm.2		NaN																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(15769-15771)AAG>AAC		spectrin repeat containing, nuclear envelope 2							113.0	104.0	107.0					14																	64619413		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.chr14:64619413G>C	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.15771G>C	14.37:g.64619413G>C	ENSP00000341781:p.Lys5257Asn					SYNE2_uc001xgl.2_Missense_Mutation_p.K5257N|SYNE2_uc010apy.2_Missense_Mutation_p.K1642N|SYNE2_uc001xgn.2_Missense_Mutation_p.K219N|SYNE2_uc001xgo.2_RNA	p.K5257N	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)	85	16001	+			5257			Spectrin 3.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.15771G>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	8.963	0.971123	0.18659	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.35789	1.3;1.3;1.3;1.29;1.3;1.3	5.94	3.89	0.44902	.	0.226789	0.30329	N	0.009870	T	0.40119	0.1104	L	0.60455	1.87	0.29927	N	0.822243	B;D;B;D	0.53312	0.05;0.958;0.024;0.959	B;P;B;P	0.48704	0.037;0.587;0.013;0.583	T	0.40098	-0.9581	10	0.46703	T	0.11	.	9.3549	0.38159	0.1908:0.0:0.8092:0.0	.	1642;5174;5257;5257	Q8WXH0-7;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	N	5257;1642;5257;5174;5180;1891;1642	ENSP00000350719:K5257N;ENSP00000349969:K1642N;ENSP00000341781:K5257N;ENSP00000452570:K5174N;ENSP00000450831:K1891N;ENSP00000378249:K1642N	ENSP00000261678:K5180N	K	+	3	2	SYNE2	63689166	0.999000	0.42202	0.052000	0.19188	0.103000	0.19146	2.607000	0.46300	0.648000	0.30732	0.655000	0.94253	AAG		0.373	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914		5	85	0	0	0	0.001984	0	5	85		
ZFYVE26	23503	broad.mit.edu	37	14	68260378	68260378	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:68260378C>G	ENST00000347230.4	-	14	2638	c.2500G>C	c.(2500-2502)Gag>Cag	p.E834Q	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E834Q	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	834					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)		AGCAGTGACTCAGGTGGGGAG	0.552																																						uc001xka.2		NaN																	0				ovary(9)|breast(2)	11						c.(2500-2502)GAG>CAG		zinc finger, FYVE domain containing 26							106.0	78.0	88.0					14																	68260378		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.chr14:68260378C>G	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.2500G>C	14.37:g.68260378C>G	ENSP00000251119:p.Glu834Gln					ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.E834Q	p.E834Q	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)	14	2639	-			834					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.2500G>C	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	35	5.446925	0.96205	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.46819	1.03;0.86	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.70780	0.3263	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.70912	-0.4743	10	0.72032	D	0.01	-21.6419	20.4777	0.99188	0.0:1.0:0.0:0.0	.	834;834	G3V2D8;Q68DK2	.;ZFY26_HUMAN	Q	834;813;834	ENSP00000251119:E834Q;ENSP00000450603:E834Q	ENSP00000251119:E834Q	E	-	1	0	ZFYVE26	67330131	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.461000	0.80834	2.840000	0.97914	0.655000	0.94253	GAG		0.552	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2		NM_015346		44	24	0	0	0	0.01441	0	44	24		
PSEN1	5663	broad.mit.edu	37	14	73637508	73637508	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:73637508G>A	ENST00000324501.5	+	4	363	c.91G>A	c.(91-93)Gac>Aac	p.D31N	PSEN1_ENST00000357710.4_Missense_Mutation_p.D27N|PSEN1_ENST00000553447.2_3'UTR|PSEN1_ENST00000394164.1_Missense_Mutation_p.D27N|PSEN1_ENST00000394157.3_Missense_Mutation_p.D31N|PSEN1_ENST00000557511.1_Missense_Mutation_p.D31N|PSEN1_ENST00000344094.3_Missense_Mutation_p.D31N|PSEN1_ENST00000406768.1_5'UTR|PSEN1_ENST00000261970.3_Missense_Mutation_p.D31N	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	31					activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		CTTATAGAATGACAATAGAGA	0.483																																						uc001xnr.2		NaN																	0				breast(1)|kidney(1)	2						c.(91-93)GAC>AAC		presenilin 1 isoform I-467							38.0	41.0	40.0					14																	73637508		2203	4300	6503	SO:0001583	missense	5663				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|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|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding	g.chr14:73637508G>A	AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.91G>A	14.37:g.73637508G>A	ENSP00000326366:p.Asp31Asn					PSEN1_uc001xnv.2_Missense_Mutation_p.D27N|PSEN1_uc010ark.2_Missense_Mutation_p.D27N|PSEN1_uc001xnt.1_RNA|PSEN1_uc001xnu.2_RNA|PSEN1_uc001xnq.3_Missense_Mutation_p.D31N	p.D31N	NM_000021	NP_000012	P49768	PSN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)	4	375	+			31			Cytoplasmic (Potential).		B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	ENST00000324501.5	37	c.91G>A	CCDS9812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.41|15.41	2.825962|2.825962	0.50739|0.50739	.|.	.|.	ENSG00000080815|ENSG00000080815	ENST00000557356;ENST00000556864;ENST00000556533;ENST00000556951;ENST00000557293;ENST00000553719;ENST00000553599;ENST00000394157;ENST00000324501;ENST00000357710;ENST00000555254;ENST00000261970;ENST00000344094;ENST00000554131;ENST00000557037;ENST00000394164;ENST00000556066;ENST00000557511|ENST00000553447	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.99607|.	-5.49;-3.38;-3.21;-3.42;-5.84;-3.38;-6.27;-6.09;-6.17;-5.81;-6.07;-5.9;-3.76;-6.17;-6.07|.	4.81|4.81	4.81|4.81	0.61882|0.61882	.|.	0.547416|.	0.18770|.	N|.	0.131630|.	T|T	0.39759|0.39759	0.1090|0.1090	N|N	0.08118|0.08118	0|0	0.45205|0.45205	D|D	0.998212|0.998212	B;B;P|.	0.38504|.	0.001;0.115;0.634|.	B;B;B|.	0.36845|.	0.001;0.033;0.234|.	T|T	0.29366|0.29366	-1.0014|-1.0014	10|5	0.17832|.	T|.	0.49|.	-12.5361|-12.5361	16.2364|16.2364	0.82377|0.82377	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	27;31;31|.	P49768-2;P49768;P49768-4|.	.;PSN1_HUMAN;.|.	N|I	27;27;27;27;31;27;27;31;31;27;31;31;31;31;27;27;27;31|69	ENSP00000451498:D27N;ENSP00000452128:D27N;ENSP00000450551:D27N;ENSP00000451880:D31N;ENSP00000451674:D27N;ENSP00000452477:D27N;ENSP00000377712:D31N;ENSP00000326366:D31N;ENSP00000350342:D27N;ENSP00000450652:D31N;ENSP00000261970:D31N;ENSP00000339523:D31N;ENSP00000451915:D31N;ENSP00000377719:D27N;ENSP00000451429:D31N|.	ENSP00000261970:D31N|.	D|M	+|+	1|3	0|0	PSEN1|PSEN1	72707261|72707261	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.745000|0.745000	0.42441|0.42441	6.646000|6.646000	0.74348|0.74348	2.482000|2.482000	0.83794|0.83794	0.563000|0.563000	0.77884|0.77884	GAC|ATG		0.483	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280500.2				4	39	0	0	0	0.000602	0	4	39		
LIN52	91750	broad.mit.edu	37	14	74567922	74567922	+	Silent	SNP	T	T	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:74567922T>C	ENST00000555028.1	+	5	443	c.276T>C	c.(274-276)taT>taC	p.Y92Y	LIN52_ENST00000554076.1_3'UTR	NM_001024674.2	NP_001019845.1	Q52LA3	LIN52_HUMAN	lin-52 DREAM MuvB core complex component	92					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	DRM complex (GO:0070176)|nucleoplasm (GO:0005654)				breast(1)|endometrium(2)|lung(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.00471)		ACCTAGCCTATCAGCTGGGGC	0.488																																						uc001xpp.2		NaN																	0				breast(1)	1						c.(274-276)TAT>TAC		lin-52 homolog							119.0	115.0	116.0					14																	74567922		2203	4300	6503	SO:0001819	synonymous_variant	91750							g.chr14:74567922T>C	AK023979	CCDS32120.1	14q24.2	2014-07-17	2014-07-17	2007-01-03	ENSG00000205659	ENSG00000205659			19856	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 46"", ""lin-52 homolog (C. elegans)"""	C14orf46		17075059, 21498570	Standard	NM_001024674		Approved		uc001xpp.2	Q52LA3	OTTHUMG00000171204	ENST00000555028.1:c.276T>C	14.37:g.74567922T>C						LIN52_uc010asb.2_Intron	p.Y92Y	NM_001024674	NP_001019845	Q52LA3	LIN52_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00471)	5	286	+			92						Silent	SNP	ENST00000555028.1	37	c.276T>C	CCDS32120.1																																																																																				0.488	LIN52-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412316.2				28	71	0	0	0	0.012213	0	28	71		
VRTN	55237	broad.mit.edu	37	14	74825046	74825046	+	Silent	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:74825046G>C	ENST00000256362.4	+	2	1801	c.1560G>C	c.(1558-1560)ctG>ctC	p.L520L		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	520					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						GGCAGGTGCTGAGTGGGCATC	0.672																																						uc001xpw.3		NaN																	0					0						c.(1558-1560)CTG>CTC		hypothetical protein LOC55237							64.0	67.0	66.0					14																	74825046		2203	4300	6503	SO:0001819	synonymous_variant	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74825046G>C	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.1560G>C	14.37:g.74825046G>C							p.L520L	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00147)	2	1751	+			520					Q9NVC7	Silent	SNP	ENST00000256362.4	37	c.1560G>C	CCDS9830.1																																																																																				0.672	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1		NM_018228		43	100	0	0	0	0.01441	0	43	100		
GSTZ1	2954	broad.mit.edu	37	14	77797454	77797454	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:77797454C>G	ENST00000556627.1	+	8	617	c.486C>G	c.(484-486)atC>atG	p.I162M	GSTZ1_ENST00000361389.4_Missense_Mutation_p.I134M|GSTZ1_ENST00000557053.1_Missense_Mutation_p.I92M|GSTZ1_ENST00000349555.3_Missense_Mutation_p.I147M|GSTZ1_ENST00000554279.1_Missense_Mutation_p.I175M|GSTZ1_ENST00000393734.1_Missense_Mutation_p.I134M|GSTZ1_ENST00000557639.1_Missense_Mutation_p.I134M|GSTZ1_ENST00000216465.5_Missense_Mutation_p.I189M|GSTZ1_ENST00000553586.1_Missense_Mutation_p.I190M			O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	189	GST C-terminal.				cellular nitrogen compound metabolic process (GO:0034641)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|L-phenylalanine catabolic process (GO:0006559)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|maleylacetoacetate isomerase activity (GO:0016034)|protein homodimerization activity (GO:0042803)			lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	TCAGCTCCATCAACAAGAGGC	0.567																																						uc001xtj.2		NaN																	0					0						c.(565-567)ATC>ATG		glutathione transferase zeta 1 isoform 1	Glutathione(DB00143)						104.0	90.0	95.0					14																	77797454		2203	4300	6503	SO:0001583	missense	2954				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity	g.chr14:77797454C>G	U86529	CCDS9858.1, CCDS9859.1, CCDS9860.1	14q24.3	2012-06-22	2012-06-22		ENSG00000100577	ENSG00000100577	5.2.1.2, 2.5.1.18	"""Glutathione S-transferases / Soluble"""	4643	protein-coding gene	gene with protein product	"""maleylacetoacetate isomerase"""	603758	"""glutathione transferase zeta 1"""			9396740, 9417084	Standard	NM_001513		Approved	GSTZ1-1, MAAI, MAI	uc001xtj.3	O43708	OTTHUMG00000171551	ENST00000556627.1:c.486C>G	14.37:g.77797454C>G	ENSP00000450487:p.Ile162Met					GSTZ1_uc001xtk.2_Missense_Mutation_p.I147M|GSTZ1_uc010ass.2_Missense_Mutation_p.I134M|GSTZ1_uc001xtm.2_Missense_Mutation_p.I134M	p.I189M	NM_145870	NP_665877	O43708	MAAI_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	9	849	+			189			GST C-terminal.		A6NED0|A6NNB8|A8MWD7|B2RCK3|O15308|O75430|Q6IB17|Q7Z610|Q9BV63	Missense_Mutation	SNP	ENST00000556627.1	37	c.567C>G		.	.	.	.	.	.	.	.	.	.	C	10.29	1.309428	0.23821	.	.	ENSG00000100577	ENST00000216465;ENST00000361389;ENST00000554279;ENST00000557639;ENST00000349555;ENST00000556627;ENST00000557053;ENST00000393734;ENST00000553586	T;T;T;T;T;T;T;T;T	0.01963	4.53;4.53;4.53;4.53;4.53;4.53;4.53;4.53;4.53	5.48	3.64	0.41730	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.151653	0.64402	D	0.000017	T	0.16171	0.0389	M	0.93594	3.435	0.53005	D	0.999964	D;D	0.67145	0.996;0.958	D;D	0.74023	0.979;0.982	T	0.00783	-1.1568	10	0.87932	D	0	-0.0107	11.0555	0.47915	0.1298:0.7958:0.0:0.0744	.	147;189	A6NED0;O43708	.;MAAI_HUMAN	M	189;134;175;134;147;162;92;134;190	ENSP00000216465:I189M;ENSP00000354959:I134M;ENSP00000452498:I175M;ENSP00000451927:I134M;ENSP00000314404:I147M;ENSP00000450487:I162M;ENSP00000451150:I92M;ENSP00000377335:I134M;ENSP00000451976:I190M	ENSP00000216465:I189M	I	+	3	3	GSTZ1	76867207	1.000000	0.71417	0.996000	0.52242	0.019000	0.09904	1.087000	0.30865	0.685000	0.31468	-1.357000	0.01221	ATC		0.567	GSTZ1-012	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000414090.1		NM_145870		54	47	0	0	0	0.01441	0	54	47		
SERPINA9	327657	broad.mit.edu	37	14	94936059	94936059	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:94936059G>C	ENST00000380365.3	-	2	197	c.119C>G	c.(118-120)cCt>cGt	p.P40R	SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000298845.7_Missense_Mutation_p.P58R|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000337425.5_Missense_Mutation_p.P58R			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	40					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CTGTGAGGCAGGGGTGCTCTT	0.577																																						uc001ydf.2		NaN																	0				lung(1)|central_nervous_system(1)	2						c.(172-174)CCT>CGT		serine (or cysteine) proteinase inhibitor, clade							86.0	89.0	88.0					14																	94936059		2024	4179	6203	SO:0001583	missense	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94936059G>C	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.119C>G	14.37:g.94936059G>C	ENSP00000369723:p.Pro40Arg					SERPINA9_uc001yde.2_Missense_Mutation_p.P58R|SERPINA9_uc010avc.2_Intron|SERPINA9_uc001ydg.2_Intron|SERPINA9_uc001ydh.1_Missense_Mutation_p.P58R|SERPINA9_uc001ydi.1_Intron	p.P58R	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	2	334	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	40					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37	c.173C>G		.	.	.	.	.	.	.	.	.	.	G	13.55	2.270460	0.40194	.	.	ENSG00000170054	ENST00000298845;ENST00000337425;ENST00000380365	D;D;D	0.87179	-2.22;-2.22;-2.22	3.99	0.827	0.18835	Serpin domain (1);	2.478880	0.02402	U	0.080727	T	0.74152	0.3679	N	0.08118	0	0.09310	N	1	B;B;P	0.47677	0.043;0.354;0.899	B;B;B	0.41813	0.035;0.26;0.367	T	0.67241	-0.5720	10	0.46703	T	0.11	.	1.7648	0.02999	0.1884:0.1623:0.4825:0.1668	.	40;58;58	Q86WD7;Q86WD7-7;Q86WD7-2	SPA9_HUMAN;.;.	R	58;58;40	ENSP00000298845:P58R;ENSP00000337133:P58R;ENSP00000369723:P40R	ENSP00000298845:P58R	P	-	2	0	SERPINA9	94005812	0.000000	0.05858	0.000000	0.03702	0.467000	0.32768	0.477000	0.22196	-0.055000	0.13244	0.313000	0.20887	CCT		0.577	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2		NM_175739		10	73	0	0	0	0.013537	0	10	73		
MOK	5891	broad.mit.edu	37	14	102718331	102718331	+	Splice_Site	SNP	C	C	G	rs201525388		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:102718331C>G	ENST00000361847.2	-	5	516	c.285G>C	c.(283-285)ggG>ggC	p.G95G	MOK_ENST00000524214.1_Splice_Site_p.G65G|MOK_ENST00000522874.1_Splice_Site_p.G95G|MOK_ENST00000193029.6_5'UTR	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	95	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										GGTATCTTCTCCCTGTACAAT	0.318																																						uc001ylm.2		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(283-285)GGG>GGC		MAPK/MAK/MRK overlapping kinase							73.0	80.0	77.0					14																	102718331		2203	4299	6502	SO:0001630	splice_region_variant	5891				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr14:102718331C>G	AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"""renal tumor antigen"""	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.284-1G>C	14.37:g.102718331C>G						RAGE_uc010txv.1_Silent_p.G65G|RAGE_uc001yln.2_5'UTR	p.G95G	NM_014226	NP_055041	Q9UQ07	MOK_HUMAN			5	511	-			95			Protein kinase.		B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Silent	SNP	ENST00000361847.2	37	c.285G>C	CCDS9971.1																																																																																				0.318	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			Silent	5	71	0	0	0	0.001168	0	5	71		
KIF26A	26153	broad.mit.edu	37	14	104642805	104642805	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:104642805G>A	ENST00000423312.2	+	12	3680	c.3680G>A	c.(3679-3681)cGc>cAc	p.R1227H	KIF26A_ENST00000315264.7_Missense_Mutation_p.R1088H	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1227					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GGCTGTGCTCGCCTGGGCCAG	0.701																																						uc001yos.3		NaN																	0				pancreas(1)	1						c.(3679-3681)CGC>CAC		kinesin family member 26A							20.0	26.0	24.0					14																	104642805		2017	4162	6179	SO:0001583	missense	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104642805G>A	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.3680G>A	14.37:g.104642805G>A	ENSP00000388241:p.Arg1227His						p.R1227H	NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	12	3680	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	1227					Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	c.3680G>A	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	G	9.450	1.090453	0.20471	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.78126	-1.15;-1.14	3.23	-3.27	0.05048	.	.	.	.	.	T	0.59555	0.2202	L	0.38531	1.155	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45833	-0.9234	9	0.45353	T	0.12	.	0.1153	0.00060	0.3247:0.2346:0.1668:0.2739	.	1227	Q9ULI4	KI26A_HUMAN	H	1227;1088	ENSP00000388241:R1227H;ENSP00000325452:R1088H	ENSP00000325452:R1088H	R	+	2	0	KIF26A	103712558	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	0.077000	0.14738	-0.645000	0.05458	0.205000	0.17691	CGC		0.701	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1				16	21	0	0	0	0.00499	0	16	21		
NUSAP1	51203	broad.mit.edu	37	15	41657646	41657646	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr15:41657646G>C	ENST00000559596.1	+	7	794	c.707G>C	c.(706-708)aGa>aCa	p.R236T	NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000560747.1_Missense_Mutation_p.R234T|NUSAP1_ENST00000450592.2_Missense_Mutation_p.R212T|NUSAP1_ENST00000414849.2_Missense_Mutation_p.R235T|NUSAP1_ENST00000450318.1_Missense_Mutation_p.R236T|NUSAP1_ENST00000560177.1_Missense_Mutation_p.R235T|NUSAP1_ENST00000260359.6_Missense_Mutation_p.R221T			Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	236					establishment of mitotic spindle localization (GO:0040001)|mitotic chromosome condensation (GO:0007076)|mitotic cytokinesis (GO:0000281)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of mitosis (GO:0045840)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		GTACCTCCAAGAGGAAGACTC	0.532																																						uc001zns.3		NaN																	0					0						c.(706-708)AGA>ACA		nucleolar and spindle associated protein 1							44.0	43.0	43.0					15																	41657646		1921	4139	6060	SO:0001583	missense	51203				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding	g.chr15:41657646G>C	AF290612	CCDS45234.1, CCDS45236.1, CCDS58356.1, CCDS58357.1, CCDS58358.1, CCDS73708.1	15q14	2008-02-05				ENSG00000137804			18538	protein-coding gene	gene with protein product		612818				12963707	Standard	NM_016359		Approved	FLJ13421, LNP, ANKT, NuSAP1, SAPL, BM037, PRO0310p1, Q0310	uc001zns.4	Q9BXS6		ENST00000559596.1:c.707G>C	15.37:g.41657646G>C	ENSP00000453403:p.Arg236Thr					NUSAP1_uc001znq.3_Missense_Mutation_p.R41T|NUSAP1_uc001znr.3_Missense_Mutation_p.R235T|NUSAP1_uc010bce.2_Missense_Mutation_p.R236T|NUSAP1_uc001znt.3_Missense_Mutation_p.R221T|NUSAP1_uc001znv.3_Missense_Mutation_p.R234T|NUSAP1_uc001znu.3_Missense_Mutation_p.R235T|NUSAP1_uc010ucw.1_Missense_Mutation_p.R212T|NUSAP1_uc001znw.3_Missense_Mutation_p.R40T	p.R236T	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)	7	937	+		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	236					B4DDF1|E7ERR5|J3KN21|Q53GW2|Q8TBT4|Q96E58|Q96FJ1|Q9GZM9|Q9NZ85|Q9UI70	Missense_Mutation	SNP	ENST00000559596.1	37	c.707G>C	CCDS45234.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.645020	0.47258	.	.	ENSG00000137804	ENST00000260359;ENST00000414849;ENST00000450318;ENST00000450592	T;T;T	0.34275	1.37;1.37;1.37	4.83	-1.97	0.07503	.	0.834184	0.10821	N	0.630532	T	0.35740	0.0942	L	0.47716	1.5	0.09310	N	1	P;P;P;P;P;P;P	0.52463	0.554;0.953;0.953;0.73;0.726;0.953;0.953	B;P;P;P;P;P;P	0.53401	0.395;0.678;0.678;0.479;0.474;0.678;0.725	T	0.25502	-1.0130	10	0.28530	T	0.3	.	5.3108	0.15829	0.4592:0.1437:0.3971:0.0	.	212;236;234;235;236;236;235	E7ERR5;E9PB35;Q9BXS6-3;Q9BXS6-5;A8K4B4;Q9BXS6;Q9BXS6-2	.;.;.;.;.;NUSAP_HUMAN;.	T	236;235;236;212	ENSP00000400746:R235T;ENSP00000401351:R236T;ENSP00000401014:R212T	ENSP00000260359:R236T	R	+	2	0	NUSAP1	39444938	0.001000	0.12720	0.000000	0.03702	0.465000	0.32709	0.213000	0.17521	-0.610000	0.05716	-0.216000	0.12614	AGA		0.532	NUSAP1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000419427.1		NM_016359		6	6	0	0	0	0.00308	0	6	6		
SHC4	399694	broad.mit.edu	37	15	49255156	49255156	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr15:49255156G>T	ENST00000332408.4	-	1	485	c.57C>A	c.(55-57)ttC>ttA	p.F19L		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	19	CH2.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CGGGGTGCCCGAAGAGTCCTA	0.592																																						uc001zxb.1		NaN																	0				ovary(3)|pancreas(2)	5						c.(55-57)TTC>TTA		rai-like protein							75.0	81.0	79.0					15																	49255156		2194	4285	6479	SO:0001583	missense	399694				intracellular signal transduction	cell junction|postsynaptic membrane		g.chr15:49255156G>T	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.57C>A	15.37:g.49255156G>T	ENSP00000329668:p.Phe19Leu						p.F19L	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	1	486	-		all_lung(180;0.00466)	19			CH2.		Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	37	c.57C>A	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.767775	0.31320	.	.	ENSG00000185634	ENST00000332408	T	0.04317	3.65	4.63	-0.65	0.11457	.	0.308875	0.27451	N	0.019306	T	0.02342	0.0072	N	0.19112	0.55	0.43729	D	0.99621	B	0.06786	0.001	B	0.06405	0.002	T	0.51576	-0.8688	10	0.30854	T	0.27	0.0519	0.5659	0.00687	0.321:0.1235:0.3122:0.2433	.	19	Q6S5L8	SHC4_HUMAN	L	19	ENSP00000329668:F19L	ENSP00000329668:F19L	F	-	3	2	SHC4	47042448	0.401000	0.25303	0.910000	0.35882	0.998000	0.95712	-0.024000	0.12435	-0.300000	0.08895	0.655000	0.94253	TTC		0.592	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1		NM_203349		81	27	1	0	4.85316e-53	0.01441	5.28836e-53	81	27		
IGDCC4	57722	broad.mit.edu	37	15	65702611	65702611	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr15:65702611C>T	ENST00000352385.2	-	3	677	c.468G>A	c.(466-468)gaG>gaA	p.E156E		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	156	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E156D(1)|p.E156E(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CTGTCCCGTTCTCCTCCACCG	0.577																																						uc002aou.1		NaN																	2	Substitution - Missense(1)|Substitution - coding silent(1)	p.E156V(1)	NS(1)|endometrium(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(466-468)GAG>GAA		immunoglobulin superfamily, DCC subclass, member							82.0	71.0	75.0					15																	65702611		2201	4299	6500	SO:0001819	synonymous_variant	57722					integral to membrane|plasma membrane		g.chr15:65702611C>T		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.468G>A	15.37:g.65702611C>T							p.E156E	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN			3	678	-			156			Ig-like C2-type 2.|Extracellular (Potential).		Q9HCE4	Silent	SNP	ENST00000352385.2	37	c.468G>A	CCDS10206.1																																																																																				0.577	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2		NM_020962		3	59	0	0	0	0.000602	0	3	59		
MPI	4351	broad.mit.edu	37	15	75183866	75183866	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr15:75183866C>T	ENST00000352410.4	+	3	358	c.291C>T	c.(289-291)ctC>ctT	p.L97L	MPI_ENST00000566377.1_Silent_p.L97L|MPI_ENST00000535694.1_Silent_p.L47L|MPI_ENST00000565576.1_Silent_p.L97L|MPI_ENST00000323744.6_Silent_p.L97L|MPI_ENST00000562606.1_Silent_p.L77L|MPI_ENST00000563786.1_Silent_p.L77L|MPI_ENST00000564003.1_Silent_p.L47L|MPI_ENST00000563422.1_Silent_p.L97L			P34949	MPI_HUMAN	mannose phosphate isomerase	97					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TGCCCTTCCTCTTCAAAGTGC	0.527																																						uc002azc.1		NaN																	0				ovary(2)	2						c.(289-291)CTC>CTT		mannose-6- phosphate isomerase							200.0	166.0	178.0					15																	75183866		2197	4295	6492	SO:0001819	synonymous_variant	4351				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding	g.chr15:75183866C>T		CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"""mannose-6-phosphate isomerase"""	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.291C>T	15.37:g.75183866C>T						MPI_uc010ulv.1_Silent_p.L97L|MPI_uc010ulw.1_Silent_p.L47L|MPI_uc002azd.1_Silent_p.L97L|MPI_uc010ulx.1_Silent_p.L47L|MPI_uc002aze.1_Silent_p.L97L	p.L97L	NM_002435	NP_002426	P34949	MPI_HUMAN			3	296	+			97					A8K8K9|Q96AB0	Silent	SNP	ENST00000352410.4	37	c.291C>T	CCDS10272.1																																																																																				0.527	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4				18	108	0	0	0	0.006122	0	18	108		
UNC45A	55898	broad.mit.edu	37	15	91483695	91483695	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr15:91483695C>G	ENST00000418476.2	+	6	719	c.679C>G	c.(679-681)Cag>Gag	p.Q227E	UNC45A_ENST00000394275.2_Missense_Mutation_p.Q212E|UNC45A_ENST00000553671.2_3'UTR	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	227					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CTCTGAGCATCAGTCACGGGT	0.552																																						uc002bqg.2		NaN																	0				ovary(2)	2						c.(679-681)CAG>GAG		smooth muscle cell associated protein-1 isoform							169.0	126.0	140.0					15																	91483695		2198	4298	6496	SO:0001583	missense	55898				cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	g.chr15:91483695C>G		CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.679C>G	15.37:g.91483695C>G	ENSP00000407487:p.Gln227Glu					UNC45A_uc002bqd.2_Missense_Mutation_p.Q212E|UNC45A_uc010uqo.1_Missense_Mutation_p.Q219E|UNC45A_uc010uqp.1_RNA|UNC45A_uc010uqq.1_Missense_Mutation_p.Q227E	p.Q227E	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Lung(145;0.189)		6	1019	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		227					A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Missense_Mutation	SNP	ENST00000418476.2	37	c.679C>G	CCDS10367.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536893	0.27475	.	.	ENSG00000140553	ENST00000394275;ENST00000418476	T;T	0.46063	0.88;0.88	5.52	5.52	0.82312	Armadillo-like helical (1);Armadillo-type fold (1);	0.329918	0.30401	N	0.009715	T	0.38348	0.1037	L	0.59436	1.845	0.48395	D	0.999644	P;P;P;P	0.45396	0.824;0.857;0.688;0.688	B;B;B;B	0.42738	0.3;0.396;0.185;0.185	T	0.30504	-0.9976	10	0.02654	T	1	-30.7652	14.672	0.68951	0.1453:0.8547:0.0:0.0	.	227;219;227;212	B4DZL0;B4DLE6;Q9H3U1;A8K6F7	.;.;UN45A_HUMAN;.	E	212;227	ENSP00000377816:Q212E;ENSP00000407487:Q227E	ENSP00000377816:Q212E	Q	+	1	0	UNC45A	89284699	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.089000	0.50183	2.764000	0.94973	0.650000	0.86243	CAG		0.552	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2		NM_018671		6	37	0	0	0	0.00308	0	6	37		
WDR90	197335	broad.mit.edu	37	16	700002	700002	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:700002G>A	ENST00000293879.4	+	3	114	c.114G>A	c.(112-114)ctG>ctA	p.L38L	WDR90_ENST00000549091.1_Silent_p.L38L|AL022341.3_ENST00000455294.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	38										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				ACAAGACCCTGAAGGGCGCCG	0.667																																						uc002cii.1		NaN																	0				ovary(1)	1						c.(112-114)CTG>CTA		WD repeat domain 90							75.0	77.0	77.0					16																	700002		1970	4153	6123	SO:0001819	synonymous_variant	197335							g.chr16:700002G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.114G>A	16.37:g.700002G>A						WDR90_uc002cig.1_Silent_p.L38L|WDR90_uc002cih.1_Silent_p.L38L|WDR90_uc002cij.1_RNA	p.L38L	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			3	168	+		Hepatocellular(780;0.0218)	38					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	c.114G>A	CCDS42092.1																																																																																				0.667	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1		NM_145294		11	53	0	0	0	0.008291	0	11	53		
TIGD7	91151	broad.mit.edu	37	16	3349173	3349173	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:3349173C>T	ENST00000396862.1	-	2	3270	c.1442G>A	c.(1441-1443)aGa>aAa	p.R481K	TIGD7_ENST00000268674.2_Missense_Mutation_p.R481K|TIGD7_ENST00000574598.1_5'Flank	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	481						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CAAACTCTCTCTTACAGCAGA	0.393																																						uc002cus.2		NaN																	0					0						c.(1441-1443)AGA>AAA		tigger transposable element derived 7							148.0	149.0	149.0					16																	3349173		2197	4300	6497	SO:0001583	missense	91151				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr16:3349173C>T	AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.1442G>A	16.37:g.3349173C>T	ENSP00000380071:p.Arg481Lys					ZNF263_uc002cur.2_3'UTR	p.R481K	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN			1	2228	-			481					Q9BXZ0	Missense_Mutation	SNP	ENST00000396862.1	37	c.1442G>A	CCDS10500.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.046102	0.00398	.	.	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	T;T	0.29917	1.55;1.55	4.4	-0.0705	0.13747	.	0.200569	0.23847	U	0.043984	T	0.12390	0.0301	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30707	-0.9969	10	0.05959	T	0.93	.	4.5425	0.12066	0.0:0.5225:0.1682:0.3093	.	481	Q6NT04	TIGD7_HUMAN	K	481	ENSP00000380071:R481K;ENSP00000268674:R481K	ENSP00000268674:R481K	R	-	2	0	TIGD7	3289174	0.001000	0.12720	0.064000	0.19789	0.144000	0.21451	0.198000	0.17217	0.063000	0.16370	-0.136000	0.14681	AGA		0.393	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251465.1		NM_033208		74	15	0	0	0	0.01441	0	74	15		
CREBBP	1387	broad.mit.edu	37	16	3820785	3820785	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:3820785G>C	ENST00000262367.5	-	14	3475	c.2666C>G	c.(2665-2667)tCa>tGa	p.S889*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.S851*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	889					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CACAGGAGTTGATGGCTGAGT	0.642			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2		NaN		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(2665-2667)TCA>TGA		CREB binding protein isoform a							82.0	73.0	76.0					16																	3820785		2197	4300	6497	SO:0001587	stop_gained	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3820785G>C	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2666C>G	16.37:g.3820785G>C	ENSP00000262367:p.Ser889*					CREBBP_uc002cvw.2_Nonsense_Mutation_p.S851*	p.S889*	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	14	2870	-		Ovarian(90;0.0266)	889					D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	ENST00000262367.5	37	c.2666C>G	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	48	14.618917	0.99803	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-15.6936	20.181	0.98201	0.0:0.0:1.0:0.0	.	.	.	.	X	889;919;851	.	ENSP00000262367:S889X	S	-	2	0	CREBBP	3760786	1.000000	0.71417	0.941000	0.38009	0.684000	0.39900	7.044000	0.76578	2.840000	0.97914	0.655000	0.94253	TCA		0.642	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2		NM_004380		6	35	0	0	0	0.00308	0	6	35		
GP2	2813	broad.mit.edu	37	16	20331027	20331027	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:20331027C>G	ENST00000381362.4	-	7	1007	c.931G>C	c.(931-933)Gac>Cac	p.D311H	GP2_ENST00000341642.5_Missense_Mutation_p.D161H|GP2_ENST00000302555.5_Missense_Mutation_p.D308H|GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381360.5_Missense_Mutation_p.D164H	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	311	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGATGGTGTCTCTGATGATG	0.438																																						uc002dgv.2		NaN																	0				ovary(3)|skin(1)	4						c.(931-933)GAC>CAC		zymogen granule membrane glycoprotein 2 isoform							422.0	389.0	400.0					16																	20331027		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20331027C>G	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.931G>C	16.37:g.20331027C>G	ENSP00000370767:p.Asp311His					GP2_uc002dgw.2_Missense_Mutation_p.D308H|GP2_uc002dgx.2_Missense_Mutation_p.D164H|GP2_uc002dgy.2_Missense_Mutation_p.D161H	p.D311H	NM_001007240	NP_001007241	P55259	GP2_HUMAN			7	1014	-			311			ZP.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.931G>C	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.034610	0.54896	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	5.43	4.47	0.54385	Zona pellucida sperm-binding protein (3);	.	.	.	.	D	0.90861	0.7129	M	0.85099	2.735	0.39673	D	0.970789	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.993;0.997;0.999;0.999	D	0.91515	0.5230	9	0.49607	T	0.09	-25.4278	11.8863	0.52604	0.0:0.9151:0.0:0.0849	.	161;289;308;311	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	H	308;311;164;161;289	ENSP00000304044:D308H;ENSP00000370767:D311H;ENSP00000370765:D164H;ENSP00000343861:D161H	ENSP00000304044:D308H	D	-	1	0	GP2	20238528	1.000000	0.71417	0.860000	0.33809	0.418000	0.31294	4.925000	0.63425	1.282000	0.44496	0.655000	0.94253	GAC		0.438	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1		NM_016295		117	23	0	0	0	0.01441	0	117	23		
ACSM2B	348158	broad.mit.edu	37	16	20552067	20552067	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:20552067G>T	ENST00000329697.6	-	13	1706	c.1538C>A	c.(1537-1539)tCg>tAg	p.S513*	ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.S513*|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.S513*|ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.S434*	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	513					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.S513L(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TAGGAACTGCGAGGCCAGGAT	0.478																																						uc002dhj.3		NaN																	1	Substitution - Missense(1)		kidney(1)	skin(3)|ovary(1)|central_nervous_system(1)	5	GRCh37	CM035887	ACSM2B	M		c.(1537-1539)TCG>TAG		acyl-CoA synthetase medium-chain family member							181.0	159.0	166.0					16																	20552067		2202	4300	6502	SO:0001587	stop_gained	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20552067G>T	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1538C>A	16.37:g.20552067G>T	ENSP00000327453:p.Ser513*					ACSM2B_uc002dhk.3_Nonsense_Mutation_p.S513*	p.S513*	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			14	1748	-			513					Q86YT1	Nonsense_Mutation	SNP	ENST00000329697.6	37	c.1538C>A	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629207	0.28978	.	.	ENSG00000066813	ENST00000329697	.	.	.	3.44	2.48	0.30137	.	0.461328	0.18403	N	0.142287	.	.	.	.	.	.	0.53688	D	0.999975	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-0.9891	10.6283	0.45521	0.0976:0.0:0.9024:0.0	.	.	.	.	X	513	.	ENSP00000327453:S513X	S	-	2	0	ACSM2B	20459568	0.886000	0.30341	0.669000	0.29828	0.115000	0.19883	4.727000	0.61993	0.808000	0.34231	-0.199000	0.12753	TCG		0.478	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2		NM_182617		67	13	1	0	8.16569e-41	0.01441	8.77867e-41	67	13		
ZNF689	115509	broad.mit.edu	37	16	30616005	30616005	+	Silent	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:30616005G>C	ENST00000287461.3	-	3	1420	c.1083C>G	c.(1081-1083)ctC>ctG	p.L361L	ZNF689_ENST00000566673.1_5'UTR|RP11-146F11.5_ENST00000563540.1_RNA	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	361					regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GCTGGTGCTGGAGCAGCGTGC	0.687																																						uc002dyx.2		NaN																	0					0						c.(1081-1083)CTC>CTG		zinc finger protein HIT-39							27.0	27.0	27.0					16																	30616005		2197	4300	6497	SO:0001819	synonymous_variant	115509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30616005G>C	BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"""Zinc fingers, C2H2-type"", ""-"""	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.1083C>G	16.37:g.30616005G>C						ZNF689_uc010bzy.2_Missense_Mutation_p.S17C	p.L361L	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	Colorectal(24;0.198)		3	1403	-			361			C2H2-type 8.		Q658J5	Silent	SNP	ENST00000287461.3	37	c.1083C>G	CCDS10686.1																																																																																				0.687	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255552.1		NM_138447		2	9	0	0	0	0.009096	0	2	9		
ZNF689	115509	broad.mit.edu	37	16	30616651	30616651	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:30616651G>A	ENST00000287461.3	-	3	774	c.437C>T	c.(436-438)tCc>tTc	p.S146F	ZNF689_ENST00000566673.1_5'UTR|RP11-146F11.5_ENST00000563540.1_RNA	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	146					regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GGGGCCCCCGGACGTCTGCCT	0.602																																						uc002dyx.2		NaN																	0					0						c.(436-438)TCC>TTC		zinc finger protein HIT-39							64.0	73.0	70.0					16																	30616651		2197	4300	6497	SO:0001583	missense	115509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30616651G>A	BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"""Zinc fingers, C2H2-type"", ""-"""	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.437C>T	16.37:g.30616651G>A	ENSP00000287461:p.Ser146Phe					ZNF689_uc010bzy.2_5'UTR	p.S146F	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	Colorectal(24;0.198)		3	757	-			146					Q658J5	Missense_Mutation	SNP	ENST00000287461.3	37	c.437C>T	CCDS10686.1	.	.	.	.	.	.	.	.	.	.	g	8.750	0.920981	0.17982	.	.	ENSG00000156853	ENST00000287461;ENST00000443190	T	0.07327	3.2	3.85	3.85	0.44370	.	0.189903	0.26237	N	0.025528	T	0.06735	0.0172	N	0.14661	0.345	0.09310	N	1	B	0.26258	0.145	B	0.33521	0.165	T	0.32079	-0.9920	10	0.56958	D	0.05	-3.001	11.588	0.50929	0.0:0.0:1.0:0.0	.	146	Q96CS4	ZN689_HUMAN	F	146	ENSP00000287461:S146F	ENSP00000287461:S146F	S	-	2	0	ZNF689	30524152	0.000000	0.05858	0.028000	0.17463	0.393000	0.30537	0.586000	0.23894	2.447000	0.82792	0.455000	0.32223	TCC		0.602	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255552.1		NM_138447		12	76	0	0	0	0.003163	0	12	76		
KCTD19	146212	broad.mit.edu	37	16	67323532	67323532	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:67323532C>G	ENST00000304372.5	-	16	2776	c.2721G>C	c.(2719-2721)caG>caC	p.Q907H		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	907					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ACAGGCCCCTCTGGATGAGCA	0.562																																						uc002esu.2		NaN																	0				skin(1)	1						c.(2719-2721)CAG>CAC		potassium channel tetramerisation domain							76.0	78.0	78.0					16																	67323532		1928	4152	6080	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67323532C>G	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2721G>C	16.37:g.67323532C>G	ENSP00000305702:p.Gln907His					KCTD19_uc002est.2_Missense_Mutation_p.Q679H|KCTD19_uc010vjj.1_Missense_Mutation_p.Q650H	p.Q907H	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	16	2772	-		Ovarian(137;0.192)	907					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.2721G>C	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594746	0.66219	.	.	ENSG00000168676	ENST00000304372	T	0.60797	0.16	5.65	3.71	0.42584	.	0.119700	0.37809	N	0.001921	T	0.44138	0.1279	N	0.19112	0.55	0.32454	N	0.544987	P	0.49961	0.93	P	0.45037	0.467	T	0.57590	-0.7785	10	0.87932	D	0	-14.9014	9.166	0.37052	0.0:0.8331:0.0:0.1669	.	907	Q17RG1	KCD19_HUMAN	H	907	ENSP00000305702:Q907H	ENSP00000305702:Q907H	Q	-	3	2	KCTD19	65881033	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.069000	0.41481	0.748000	0.32831	0.655000	0.94253	CAG		0.562	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1		XM_085367		60	15	0	0	0	0.01441	0	60	15		
CDH13	1012	broad.mit.edu	37	16	83704469	83704469	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:83704469C>T	ENST00000566620.1	+	9	1466	c.1176C>T	c.(1174-1176)acC>acT	p.T392T	CDH13_ENST00000428848.3_Silent_p.T353T|CDH13_ENST00000268613.10_Silent_p.T439T	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	392	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.			T -> A (in Ref. 4; AAH28624/AAH30653). {ECO:0000305}.	adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		ATGACCCCACCACAGGTGCAT	0.498																																						uc002fgx.2		NaN																	0				large_intestine(1)	1						c.(1174-1176)ACC>ACT		cadherin 13 preproprotein							104.0	104.0	104.0					16																	83704469		1972	4147	6119	SO:0001819	synonymous_variant	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83704469C>T	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.1176C>T	16.37:g.83704469C>T						CDH13_uc010vns.1_Silent_p.T439T|CDH13_uc010vnt.1_Silent_p.T138T|CDH13_uc010vnu.1_Silent_p.T353T	p.T392T	NM_001257	NP_001248	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	9	1296	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	392	T -> A (in Ref. 4; AAH28624/AAH30653).		Cadherin 3.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	c.1176C>T	CCDS58486.1																																																																																				0.498	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1		NM_001257		47	6	0	0	0	0.01441	0	47	6		
MYO1C	4641	broad.mit.edu	37	17	1370776	1370776	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:1370776G>A	ENST00000575158.1	-	30	3134	c.2958C>T	c.(2956-2958)ggC>ggT	p.G986G	MYO1C_ENST00000545534.2_Silent_p.G997G|MYO1C_ENST00000359786.5_Silent_p.G1021G|MYO1C_ENST00000438665.2_Silent_p.G1002G|MYO1C_ENST00000361007.2_Silent_p.G986G			Q12965	MYO1E_HUMAN	myosin IC	174					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)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGCCTCACCTGCCCTGGTTGA	0.677																																						uc002fsp.2		NaN																	0					0						c.(3061-3063)GGC>GGT		myosin IC isoform a							68.0	62.0	64.0					17																	1370776		2203	4300	6503	SO:0001819	synonymous_variant	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1370776G>A	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.2958C>T	17.37:g.1370776G>A						MYO1C_uc002fsn.2_Silent_p.G1002G|MYO1C_uc002fso.2_Silent_p.G986G	p.G1021G	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	30	3283	-			1021					Q14778	Silent	SNP	ENST00000575158.1	37	c.3063C>T	CCDS11003.1																																																																																				0.677	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2				10	68	0	0	0	0.010729	0	10	68		
TEKT1	83659	broad.mit.edu	37	17	6703366	6703366	+	Missense_Mutation	SNP	G	G	A	rs199498472		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:6703366G>A	ENST00000338694.2	-	8	1366	c.1237C>T	c.(1237-1239)Cgc>Tgc	p.R413C	TEKT1_ENST00000535086.1_Missense_Mutation_p.R267C	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	413						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GCATCAGGGCGGAGGCCCCCA	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		20735	0.0		0.001	False		,,,				2504	0.0					uc002gdt.2		NaN																	0				ovary(1)|skin(1)	2						c.(1237-1239)CGC>TGC		tektin 1							116.0	117.0	116.0					17																	6703366		2203	4300	6503	SO:0001583	missense	83659				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:6703366G>A		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.1237C>T	17.37:g.6703366G>A	ENSP00000341346:p.Arg413Cys					TEKT1_uc010vth.1_Missense_Mutation_p.R267C	p.R413C	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN			8	1347	-		Myeloproliferative disorder(207;0.0255)	413					D3DTM7	Missense_Mutation	SNP	ENST00000338694.2	37	c.1237C>T	CCDS11083.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.946	0.743880	0.15642	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.08370	3.6;3.1	4.57	-0.783	0.10958	.	2.341150	0.02139	N	0.057033	T	0.06005	0.0156	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38134	-0.9675	10	0.51188	T	0.08	.	4.4043	0.11402	0.3596:0.1581:0.4823:0.0	.	413	Q969V4	TEKT1_HUMAN	C	413;267	ENSP00000341346:R413C;ENSP00000444142:R267C	ENSP00000341346:R413C	R	-	1	0	TEKT1	6644090	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-0.160000	0.10041	-0.055000	0.13244	-0.140000	0.14226	CGC		0.488	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2		NM_053285		63	105	0	0	0	0.01441	0	63	105		
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)CGG>CAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	p.R248Q	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	937	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		63	11	0	0	0	0.01441	0	63	11		
PIGL	9487	broad.mit.edu	37	17	16137360	16137360	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:16137360C>G	ENST00000225609.5	+	2	328	c.311C>G	c.(310-312)tCc>tGc	p.S104C	PIGL_ENST00000395844.4_Missense_Mutation_p.S104C|PIGL_ENST00000581006.1_Missense_Mutation_p.S104C|PIGL_ENST00000498772.2_Missense_Mutation_p.S104C	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	104					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	N-acetylglucosaminylphosphatidylinositol deacetylase activity (GO:0000225)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		ATTCCACTCTCCAGTGTAATG	0.333																																						uc002gpv.2		NaN																	0					0						c.(310-312)TCC>TGC		phosphatidylinositol glycan anchor biosynthesis,							95.0	99.0	98.0					17																	16137360		2203	4300	6503	SO:0001583	missense	9487				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity	g.chr17:16137360C>G	AB017165	CCDS11176.1	17p12-p11.2	2013-02-26	2006-06-28		ENSG00000108474	ENSG00000108474	3.5.1.89	"""Phosphatidylinositol glycan anchor biosynthesis"""	8966	protein-coding gene	gene with protein product	"""N-acetylglucosaminylphosphatidylinositol deacetylase"""	605947	"""phosphatidylinositol glycan, class L"""			10085243	Standard	NM_004278		Approved		uc002gpv.3	Q9Y2B2	OTTHUMG00000059346	ENST00000225609.5:c.311C>G	17.37:g.16137360C>G	ENSP00000225609:p.Ser104Cys					PIGL_uc010vwd.1_Missense_Mutation_p.S104C	p.S104C	NM_004278	NP_004269	Q9Y2B2	PIGL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)	2	343	+			104			Cytoplasmic (Potential).		A8KA67|B4DYN4	Missense_Mutation	SNP	ENST00000225609.5	37	c.311C>G	CCDS11176.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.224979	0.39300	.	.	ENSG00000108474	ENST00000225609;ENST00000395844	T;T	0.78595	-1.19;-1.19	5.78	5.78	0.91487	Putative deacetylase LmbE-like domain (2);	0.332317	0.36519	N	0.002557	D	0.88695	0.6506	M	0.85462	2.755	0.45777	D	0.998665	D;D	0.69078	0.997;0.994	D;P	0.65323	0.934;0.905	D	0.89304	0.3628	10	0.56958	D	0.05	-10.2917	17.5651	0.87917	0.0:1.0:0.0:0.0	.	104;104	B4DYN4;Q9Y2B2	.;PIGL_HUMAN	C	104	ENSP00000225609:S104C;ENSP00000379185:S104C	ENSP00000225609:S104C	S	+	2	0	PIGL	16078085	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.939000	0.48995	2.751000	0.94390	0.585000	0.79938	TCC		0.333	PIGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131881.1				79	8	0	0	0	0.01441	0	79	8		
FAM83G	644815	broad.mit.edu	37	17	18880947	18880947	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:18880947C>G	ENST00000388995.6	-	5	2255	c.2032G>C	c.(2032-2034)Gat>Cat	p.D678H	FAM83G_ENST00000345041.4_Missense_Mutation_p.D678H|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.D678H|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	678					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TTCAACGCATCTGCTTCTTCT	0.652																																						uc002guw.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2032-2034)GAT>CAT		hypothetical protein LOC644815							38.0	44.0	42.0					17																	18880947		2138	4243	6381	SO:0001583	missense	644815							g.chr17:18880947C>G	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2032G>C	17.37:g.18880947C>G	ENSP00000373647:p.Asp678His					SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	p.D678H	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN			5	2199	-			678					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.2032G>C	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	C	6.480	0.456745	0.12283	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.11712	2.75;2.75	5.97	2.45	0.29901	.	1817.830000	0.00166	N	0.000000	T	0.09247	0.0228	N	0.22421	0.69	0.09310	N	1	P	0.34780	0.468	B	0.33620	0.167	T	0.24154	-1.0168	10	0.52906	T	0.07	-2.145	5.1352	0.14932	0.1372:0.5558:0.0:0.3069	.	678	A6ND36	FA83G_HUMAN	H	678	ENSP00000373647:D678H;ENSP00000343279:D678H	ENSP00000343279:D678H	D	-	1	0	FAM83G	18821672	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.493000	0.06459	0.671000	0.31185	0.655000	0.94253	GAT		0.652	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4				10	60	0	0	0	0.013537	0	10	60		
MAPK7	5598	broad.mit.edu	37	17	19285429	19285429	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:19285429C>T	ENST00000308406.5	+	5	2199	c.1813C>T	c.(1813-1815)Cct>Tct	p.P605S	MAPK7_ENST00000395604.3_Missense_Mutation_p.P605S|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000299612.7_Missense_Mutation_p.P466S|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.P605S	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	605	May not be required for kinase activity; required to stimulate MEF2C activity. {ECO:0000250}.|Pro-rich.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					ACCTACCAGTCCTCCTCCTGG	0.711																																						uc002gvn.2		NaN																	0				central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9						c.(1813-1815)CCT>TCT		mitogen-activated protein kinase 7 isoform 1							19.0	17.0	18.0					17																	19285429		2196	4294	6490	SO:0001583	missense	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor 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|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr17:19285429C>T	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.1813C>T	17.37:g.19285429C>T	ENSP00000311005:p.Pro605Ser					MAPK7_uc002gvo.2_Missense_Mutation_p.P466S|MAPK7_uc002gvq.2_Missense_Mutation_p.P605S|MAPK7_uc002gvp.2_Missense_Mutation_p.P605S|uc010vyt.1_5'Flank	p.P605S	NM_139033	NP_620602	Q13164	MK07_HUMAN			5	2199	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		605			May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich.		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	c.1813C>T	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.989623	0.00439	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.72394	-0.39;-0.65;-0.39;-0.39	4.82	2.79	0.32731	.	1.280200	0.05571	N	0.571127	T	0.48714	0.1515	N	0.08118	0	0.09310	N	0.999996	B	0.02656	0.0	B	0.06405	0.002	T	0.31888	-0.9927	10	0.10377	T	0.69	-5.0417	7.687	0.28546	0.1622:0.7484:0.0:0.0894	.	605	Q13164	MK07_HUMAN	S	605;466;605;605	ENSP00000311005:P605S;ENSP00000299612:P466S;ENSP00000378968:P605S;ENSP00000378966:P605S	ENSP00000299612:P466S	P	+	1	0	MAPK7	19226022	0.363000	0.24989	0.501000	0.27601	0.010000	0.07245	0.259000	0.18405	0.424000	0.26061	-0.339000	0.08088	CCT		0.711	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1		NM_139033		13	0	0	0	0	0.003163	0	13	0		
DHRS7B	25979	broad.mit.edu	37	17	21086979	21086979	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:21086979G>A	ENST00000395511.3	+	4	702	c.382G>A	c.(382-384)Gag>Aag	p.E128K	DHRS7B_ENST00000581463.1_5'Flank|DHRS7B_ENST00000579303.1_Missense_Mutation_p.E113K	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	128						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						AGCAGCAGCTGAGATCCTGCA	0.498																																						uc002gyo.2		NaN																	0				pancreas(1)	1						c.(382-384)GAG>AAG		dehydrogenase/reductase (SDR family) member 7B							134.0	103.0	113.0					17																	21086979		2203	4300	6503	SO:0001583	missense	25979					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	g.chr17:21086979G>A	BC004126	CCDS11215.1	17p12	2011-09-20				ENSG00000109016		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	24547	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 1"""					10810093, 11230166, 19027726	Standard	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	Q6IAN0		ENST00000395511.3:c.382G>A	17.37:g.21086979G>A	ENSP00000378887:p.Glu128Lys						p.E128K	NM_015510	NP_056325	Q6IAN0	DRS7B_HUMAN			4	409	+			128			Peroxisomal (Potential).		B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	Missense_Mutation	SNP	ENST00000395511.3	37	c.382G>A	CCDS11215.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571507	0.65765	.	.	ENSG00000109016	ENST00000395511;ENST00000346603	D	0.87887	-2.31	5.63	-1.18	0.09617	NAD(P)-binding domain (1);	0.184847	0.56097	N	0.000023	T	0.79701	0.4491	N	0.12502	0.225	0.80722	D	1	D	0.61080	0.989	P	0.60236	0.871	T	0.72629	-0.4235	10	0.16896	T	0.51	.	6.6204	0.22800	0.3202:0.1127:0.5672:0.0	.	128	Q6IAN0	DRS7B_HUMAN	K	128	ENSP00000378887:E128K	ENSP00000320352:E128K	E	+	1	0	DHRS7B	21027571	0.984000	0.35163	0.012000	0.15200	0.904000	0.53231	1.846000	0.39289	-0.417000	0.07461	-0.259000	0.10710	GAG		0.498	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444066.3		NM_015510		27	37	0	0	0	0.009535	0	27	37		
RAB11FIP4	84440	broad.mit.edu	37	17	29857477	29857477	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:29857477C>T	ENST00000325874.8	+	14	2016	c.1787C>T	c.(1786-1788)tCg>tTg	p.S596L	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.S494L	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	596	FIP-RBD. {ECO:0000255|PROSITE- ProRule:PRU00844}.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GACACCGCCTCGCGCGATGAG	0.582																																						uc002hgn.1		NaN																	0				skin(1)	1						c.(1786-1788)TCG>TTG		RAB11 family interacting protein 4 (class II)							77.0	79.0	78.0					17																	29857477		2203	4300	6503	SO:0001583	missense	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29857477C>T	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.1787C>T	17.37:g.29857477C>T	ENSP00000312837:p.Ser596Leu					RAB11FIP4_uc002hgo.2_Missense_Mutation_p.S494L	p.S596L	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN			14	2016	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	596			Potential.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.|FIP-RBD.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Missense_Mutation	SNP	ENST00000325874.8	37	c.1787C>T	CCDS11267.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.976147	0.34848	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	.	.	.	6.04	6.04	0.98038	Rab-binding domain FIP-RBD (2);	0.000000	0.85682	D	0.000000	T	0.76800	0.4038	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.981	T	0.74734	-0.3565	8	.	.	.	-10.4992	16.0793	0.80989	0.0:1.0:0.0:0.0	.	494;596	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	L	596	.	.	S	+	2	0	RAB11FIP4	26881597	1.000000	0.71417	0.933000	0.37362	0.082000	0.17680	7.506000	0.81665	2.873000	0.98535	0.561000	0.74099	TCG		0.582	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2		NM_032932		67	61	0	0	0	0.01441	0	67	61		
RAD51D	5892	broad.mit.edu	37	17	33430494	33430494	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:33430494G>A	ENST00000345365.6	-	7	901	c.646C>T	c.(646-648)Ctg>Ttg	p.L216L	RAD51D_ENST00000394589.4_Silent_p.L216L|RAD51D_ENST00000360276.3_Silent_p.L171L|RAD51D_ENST00000460118.2_Silent_p.L97L|RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000335858.7_Silent_p.L104L|RAD51L3-RFFL_ENST00000593039.1_Silent_p.L57L|RAD51D_ENST00000590016.1_Silent_p.L236L	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	216					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|reciprocal meiotic recombination (GO:0007131)|strand invasion (GO:0042148)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|gamma-tubulin binding (GO:0043015)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TGACCTCCCAGAAGTGGGGAA	0.592								Direct reversal of damage																														uc002hir.2		NaN																	0					0						c.(646-648)CTG>TTG	Direct_reversal_of_damage|Homologous_recombination	RAD51-like 3 isoform 1							105.0	90.0	95.0					17																	33430494		2203	4300	6503	SO:0001819	synonymous_variant	5892				DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	g.chr17:33430494G>A	AF034956	CCDS11287.1, CCDS11288.1, CCDS45646.1	17q11	2014-09-17	2013-07-02	2011-07-01	ENSG00000185379	ENSG00000185379			9823	protein-coding gene	gene with protein product	"""recombination repair protein"", ""DNA repair protein RAD51 homolog 4"""	602954	"""RAD51 (S. cerevisiae)-like 3"", ""RAD51-like 3 (S. cerevisiae)"", ""RAD51 homolog D (S. cerevisiae)"""	RAD51L3		9570954	Standard	NM_001142571		Approved	R51H3, Trad, HsTRAD	uc010ctj.2	O75771	OTTHUMG00000132930	ENST00000345365.6:c.646C>T	17.37:g.33430494G>A						RFFL_uc002hiq.2_Silent_p.L57L|RAD51L3_uc010ctj.2_Missense_Mutation_p.S34F|RAD51L3_uc010wcd.1_Silent_p.L236L|RAD51L3_uc002his.2_Silent_p.L104L|RAD51L3_uc010ctk.2_Silent_p.L97L|RAD51L3_uc010wce.1_Silent_p.L97L|RAD51L3_uc002hit.2_Silent_p.L97L|RAD51L3_uc002hiu.2_Silent_p.L39L	p.L216L	NM_002878	NP_002869	O75771	RA51D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	7	902	-		Ovarian(249;0.17)	216					B4DJU7|E1P637|O43537|O60355|O75196|O75847|O75848|O76073|O76085|O94908|Q9UFU5	Silent	SNP	ENST00000345365.6	37	c.646C>T	CCDS11287.1																																																																																				0.592	RAD51D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256446.1		NM_002878		47	66	0	0	0	0.01441	0	47	66		
MED1	5469	broad.mit.edu	37	17	37587411	37587411	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:37587411C>G	ENST00000394287.3	-	9	811	c.606G>C	c.(604-606)aaG>aaC	p.K202N	MED1_ENST00000300651.6_Missense_Mutation_p.K202N			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)		CATGAAGAATCTTATCCAAGG	0.393										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.(604-606)AAG>AAC		mediator complex subunit 1							242.0	194.0	210.0					17																	37587411		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.chr17:37587411C>G	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	ENST00000394287.3:c.606G>C	17.37:g.37587411C>G	ENSP00000377828:p.Lys202Asn	HNSCC(31;0.082)				MED1_uc010wee.1_Missense_Mutation_p.K30N|MED1_uc002hru.2_Missense_Mutation_p.K202N	p.K202N	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)	9	818	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	202			Interaction with ESR1.|Interaction with the Mediator complex.|Interaction with the Mediator complex and THRA.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000394287.3	37	c.606G>C		.	.	.	.	.	.	.	.	.	.	C	14.02	2.409415	0.42715	.	.	ENSG00000125686	ENST00000394287;ENST00000300651	T	0.32023	1.47	5.58	3.59	0.41128	Mediator complex, subunit Med1, metazoa/fungi (1);	.	.	.	.	T	0.21427	0.0516	L	0.44542	1.39	0.43408	D	0.995548	P;B	0.44521	0.837;0.178	B;B	0.38755	0.281;0.058	T	0.03728	-1.1009	9	0.13108	T	0.6	-8.3803	9.1482	0.36946	0.0:0.7751:0.0:0.2249	.	202;202	Q15648;Q15648-3	MED1_HUMAN;.	N	202	ENSP00000300651:K202N	ENSP00000300651:K202N	K	-	3	2	MED1	34840937	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.939000	0.28978	0.730000	0.32425	0.545000	0.68477	AAG		0.393	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000256944.1		NM_004774		83	114	0	0	0	0.01441	0	83	114		
KRT33A	3883	broad.mit.edu	37	17	39502796	39502796	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:39502796C>A	ENST00000007735.3	-	6	1045	c.1001G>T	c.(1000-1002)cGg>cTg	p.R334L		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	334	Coil 2.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				CTGGTTCTGCCGCTCCAGGTC	0.632																																						uc002hwk.1		NaN																	0					0						c.(1000-1002)CGG>CTG		keratin 33A							67.0	68.0	68.0					17																	39502796		2203	4297	6500	SO:0001583	missense	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39502796C>A	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.1001G>T	17.37:g.39502796C>A	ENSP00000007735:p.Arg334Leu						p.R334L	NM_004138	NP_004129	O76009	KT33A_HUMAN			6	1038	-		Breast(137;0.000496)	334			Coil 2.|Rod.		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	37	c.1001G>T	CCDS11388.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083451	0.76642	.	.	ENSG00000006059	ENST00000007735	D	0.90004	-2.6	4.55	4.55	0.56014	Filament (1);	0.000000	0.64402	D	0.000016	D	0.95862	0.8653	M	0.94101	3.495	0.32784	N	0.502114	D	0.89917	1.0	D	0.87578	0.998	D	0.97732	1.0203	10	0.87932	D	0	.	16.8343	0.85953	0.0:1.0:0.0:0.0	.	334	O76009	KT33A_HUMAN	L	334	ENSP00000007735:R334L	ENSP00000007735:R334L	R	-	2	0	KRT33A	36756322	0.918000	0.31147	0.995000	0.50966	0.995000	0.86356	2.469000	0.45110	2.501000	0.84356	0.655000	0.94253	CGG		0.632	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1		NM_004138		84	108	1	0	5.78178e-49	0.01441	6.24931e-49	84	108		
KRT34	3885	broad.mit.edu	37	17	39538044	39538044	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:39538044G>C	ENST00000394001.1	-	2	508	c.478C>G	c.(478-480)Ctg>Gtg	p.L160V		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	160	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.L160L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TTGGCACACAGAATCTGAAAA	0.483																																						uc002hwm.2		NaN																	1	Substitution - coding silent(1)		NS(1)	central_nervous_system(1)	1						c.(478-480)CTG>GTG		keratin 34							73.0	72.0	73.0					17																	39538044		2203	4300	6503	SO:0001583	missense	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39538044G>C	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.478C>G	17.37:g.39538044G>C	ENSP00000377570:p.Leu160Val						p.L160V	NM_021013	NP_066293	O76011	KRT34_HUMAN			2	490	-		Breast(137;0.000496)	160			Rod.|Coil 1B.		Q8IUT8|Q8N4W2	Missense_Mutation	SNP	ENST00000394001.1	37	c.478C>G	CCDS11390.1	.	.	.	.	.	.	.	.	.	.	g	10.58	1.388937	0.25118	.	.	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	5.55	5.55	0.83447	Filament (1);	0.000000	0.44285	D	0.000474	T	0.53238	0.1784	M	0.69358	2.11	0.26703	N	0.971124	D	0.53312	0.959	P	0.54924	0.764	T	0.55386	-0.8149	9	0.87932	D	0	.	10.1103	0.42559	0.1535:0.0:0.8465:0.0	.	160	O76011	KRT34_HUMAN	V	118;160	.	ENSP00000251648:L160V	L	-	1	2	KRT34	36791570	0.022000	0.18835	1.000000	0.80357	0.597000	0.36814	1.018000	0.30002	2.611000	0.88343	0.650000	0.86243	CTG		0.483	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3		NM_021013		39	45	0	0	0	0.01441	0	39	45		
UBTF	7343	broad.mit.edu	37	17	42284923	42284923	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:42284923C>T	ENST00000302904.4	-	20	2560	c.2068G>A	c.(2068-2070)Gag>Aag	p.E690K	UBTF_ENST00000529383.1_Missense_Mutation_p.E690K|UBTF_ENST00000343638.5_Missense_Mutation_p.E653K|UBTF_ENST00000527034.1_Silent_p.T651T|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000533177.1_Missense_Mutation_p.E653K|UBTF_ENST00000393606.3_Missense_Mutation_p.E653K|UBTF_ENST00000526094.1_Missense_Mutation_p.E653K|UBTF_ENST00000436088.1_Missense_Mutation_p.E690K			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	690	Asp/Glu/Ser-rich (acidic).				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)		tcttcatcctcgtcctcgtca	0.567																																						uc002igb.2		NaN																	0					0						c.(2068-2070)GAG>AAG		upstream binding transcription factor, RNA							202.0	132.0	156.0					17																	42284923		2203	4300	6503	SO:0001583	missense	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.chr17:42284923C>T	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.2068G>A	17.37:g.42284923C>T	ENSP00000302640:p.Glu690Lys					UBTF_uc002igc.2_Missense_Mutation_p.E653K|UBTF_uc010czs.2_Missense_Mutation_p.E690K|UBTF_uc002igd.2_Missense_Mutation_p.E653K|UBTF_uc010czt.2_Missense_Mutation_p.E690K	p.E690K	NM_014233	NP_055048	P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	19	2135	-		Breast(137;0.00765)|Prostate(33;0.0181)	690			Asp/Glu/Ser-rich (acidic).		A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	c.2068G>A	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.416384	0.25552	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383	D;D;D;D;D;D;D	0.98296	-4.85;-4.11;-4.85;-4.11;-4.85;-4.85;-4.11	5.05	5.05	0.67936	.	0.544685	0.17896	N	0.158342	D	0.95398	0.8506	L	0.29908	0.895	0.46542	D	0.999098	B;B	0.31599	0.33;0.222	B;B	0.21151	0.033;0.015	D	0.93964	0.7243	10	0.36615	T	0.2	-7.976	18.196	0.89822	0.0:1.0:0.0:0.0	.	653;690	P17480-2;P17480	.;UBF1_HUMAN	K	653;690;653;690;653;653;690	ENSP00000345297:E653K;ENSP00000302640:E690K;ENSP00000437180:E653K;ENSP00000390669:E690K;ENSP00000377231:E653K;ENSP00000432925:E653K;ENSP00000435708:E690K	ENSP00000302640:E690K	E	-	1	0	UBTF	39640449	1.000000	0.71417	0.388000	0.26195	0.969000	0.65631	6.197000	0.72100	2.639000	0.89480	0.491000	0.48974	GAG		0.567	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1		NM_014233		16	26	0	0	0	0.004007	0	16	26		
MAPT	4137	broad.mit.edu	37	17	44067367	44067368	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:44067367_44067368CC>AT	ENST00000571987.1	+	7	1306_1307	c.1306_1307CC>AT	c.(1306-1308)CCt>ATt	p.P436I	MAPT_ENST00000351559.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.P436I|MAPT_ENST00000344290.5_Missense_Mutation_p.P436I|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.P436I|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000576518.1_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	436					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	CCCAGAGCCACCTTCCTCTCCT	0.515																																						uc002ijr.3		NaN																	0				pancreas(1)	1						c.(1306-1308)CCT>ATT		microtubule-associated protein tau isoform 1																																				SO:0001583	missense	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44067367_44067368CC>AT	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	Exception_encountered	17.37:g.44067367_44067368delinsAT	ENSP00000458742:p.Pro436Ile					MAPT_uc010dau.2_Missense_Mutation_p.P436I|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	p.P436I	NM_016835	NP_058519	P10636	TAU_HUMAN			8	1626_1627	+		Melanoma(429;0.216)	436					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	DNP	ENST00000571987.1	37	c.1306_1307CC>AT	CCDS11501.1																																																																																				0.515	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1		NM_016835		126	151	0	0	0	0.004672	0	126	151		
MAPT	4137	broad.mit.edu	37	17	44067427	44067427	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:44067427G>A	ENST00000571987.1	+	7	1366	c.1366G>A	c.(1366-1368)Gag>Aag	p.E456K	MAPT_ENST00000351559.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.E456K|MAPT_ENST00000344290.5_Missense_Mutation_p.E456K|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.E456K|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000576518.1_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	456					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	TGGAGCAAAGGAGATGAAACT	0.478																																						uc002ijr.3		NaN																	0				pancreas(1)	1						c.(1366-1368)GAG>AAG		microtubule-associated protein tau isoform 1							85.0	85.0	85.0					17																	44067427		2203	4300	6503	SO:0001583	missense	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44067427G>A	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.1366G>A	17.37:g.44067427G>A	ENSP00000458742:p.Glu456Lys					MAPT_uc010dau.2_Missense_Mutation_p.E456K|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	p.E456K	NM_016835	NP_058519	P10636	TAU_HUMAN			8	1686	+		Melanoma(429;0.216)	456					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	c.1366G>A	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889793	0.52014	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000415613	T;T;T	0.32023	1.47;1.47;1.47	5.17	3.05	0.35203	.	0.175198	0.27715	N	0.018149	T	0.32526	0.0832	L	0.50333	1.59	0.80722	D	1	P;P	0.41345	0.746;0.722	P;B	0.47786	0.557;0.164	T	0.04255	-1.0965	10	0.10377	T	0.69	-9.2816	11.7474	0.51828	0.0:0.4498:0.5502:0.0	.	456;456	P10636-9;P10636	.;TAU_HUMAN	K	456	ENSP00000340820:E456K;ENSP00000262410:E456K;ENSP00000410838:E456K	ENSP00000262410:E456K	E	+	1	0	MAPT	41423264	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.391000	0.44424	0.637000	0.30526	0.491000	0.48974	GAG		0.478	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1		NM_016835		31	44	0	0	0	0.00623	0	31	44		
TTLL6	284076	broad.mit.edu	37	17	46863537	46863537	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:46863537C>T	ENST00000393382.3	-	12	1891	c.1750G>A	c.(1750-1752)Gcc>Acc	p.A584T	TTLL6_ENST00000433608.2_Missense_Mutation_p.A277T	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGTTTGGAGGCTTGGGTGGCG	0.587																																						uc010wlo.1		NaN																	0					0						c.(1750-1752)GCC>ACC		tubulin tyrosine ligase-like family, member 6							379.0	350.0	360.0					17																	46863537		2203	4300	6503	SO:0001583	missense	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46863537C>T	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1750G>A	17.37:g.46863537C>T	ENSP00000377043:p.Ala584Thr					TTLL6_uc002iob.2_Missense_Mutation_p.A277T|TTLL6_uc010dbi.2_RNA|TTLL6_uc002ioc.2_Missense_Mutation_p.A337T|TTLL6_uc002iod.2_Missense_Mutation_p.A431T	p.A584T	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN			13	1785	-			536						Missense_Mutation	SNP	ENST00000393382.3	37	c.1750G>A	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.324561	0.24080	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	5.63	-8.31	0.01001	.	451.977000	0.00166	N	0.000000	T	0.22044	0.0531	N	0.14661	0.345	0.09310	N	1	B;B;B	0.14438	0.002;0.01;0.007	B;B;B	0.12156	0.005;0.005;0.007	T	0.16541	-1.0399	9	0.11485	T	0.65	.	10.0907	0.42445	0.0:0.3276:0.0968:0.5756	.	536;337;277	Q8N841;D3DTW0;G5E937	TTLL6_HUMAN;.;.	T	584;277;262;536	.	ENSP00000302547:A277T	A	-	1	0	TTLL6	44218536	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.845000	0.00735	-1.531000	0.01749	-0.291000	0.09656	GCC		0.587	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3		NM_173623		231	305	0	0	0	0.01441	0	231	305		
SPOP	8405	broad.mit.edu	37	17	47699430	47699430	+	Splice_Site	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:47699430C>A	ENST00000393328.2	-	4	444		c.e4-1		SPOP_ENST00000503676.1_Splice_Site|SPOP_ENST00000393331.3_Splice_Site|SPOP_ENST00000504102.1_Splice_Site|SPOP_ENST00000513080.1_Splice_Site|SPOP_ENST00000347630.2_Splice_Site	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein						glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CTACCTTGATCTGTTGATAGA	0.398										Prostate(2;0.17)																												uc010dbk.2		NaN																	0				prostate(2)|ovary(2)|lung(2)	6						c.e4-1		speckle-type POZ protein							41.0	40.0	40.0					17																	47699430		2203	4300	6503	SO:0001630	splice_region_variant	8405				mRNA processing	nucleus	protein binding	g.chr17:47699430C>A	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.79-1G>T	17.37:g.47699430C>A		Prostate(2;0.17)				SPOP_uc002ipb.2_Splice_Site_p.I27_splice|SPOP_uc002ipc.2_Splice_Site_p.I27_splice|SPOP_uc002ipd.2_Splice_Site_p.I27_splice|SPOP_uc002ipe.2_Splice_Site_p.I27_splice|SPOP_uc002ipf.2_Splice_Site_p.I27_splice|SPOP_uc002ipg.2_Splice_Site_p.I27_splice	p.I27_splice	NM_003563	NP_003554	O43791	SPOP_HUMAN			4	711	-								B2R6S3|D3DTW7|Q53HJ1	Splice_Site	SNP	ENST00000393328.2	37	c.79_splice	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398808	0.83120	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508;ENST00000510476;ENST00000508805;ENST00000451526	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5655	0.91115	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPOP	45054429	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.651000	0.83577	2.732000	0.93576	0.650000	0.86243	.		0.398	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2		NM_003563	Intron	14	21	1	0	5.03518e-11	0.007413	5.31344e-11	14	21		
UTP18	51096	broad.mit.edu	37	17	49337968	49337968	+	Missense_Mutation	SNP	G	G	A	rs376900305		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:49337968G>A	ENST00000225298.7	+	1	80	c.23G>A	c.(22-24)cGa>cAa	p.R8Q	MBTD1_ENST00000586178.1_5'Flank|MBTD1_ENST00000376381.2_5'Flank	NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	8					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			CGGAGGAGACGAATGAAACTG	0.687																																						uc002its.2		NaN																	0					0						c.(22-24)CGA>CAA		UTP18, small subunit processome component							16.0	19.0	18.0					17																	49337968		1884	4093	5977	SO:0001583	missense	51096				rRNA processing	nucleolus		g.chr17:49337968G>A	AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"""WD repeat domain containing"""	24274	protein-coding gene	gene with protein product		612816	"""WD repeat domain 50"""	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.23G>A	17.37:g.49337968G>A	ENSP00000225298:p.Arg8Gln					MBTD1_uc002itr.3_5'Flank|MBTD1_uc002itq.3_5'Flank	p.R8Q	NM_016001	NP_057085	Q9Y5J1	UTP18_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.09e-07)		1	72	+			8					Q9H4N6	Missense_Mutation	SNP	ENST00000225298.7	37	c.23G>A	CCDS42362.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828525	0.50845	.	.	ENSG00000011260	ENST00000225298	T	0.37235	1.21	4.88	3.66	0.41972	.	0.835344	0.10566	N	0.659643	T	0.21307	0.0513	L	0.27053	0.805	0.09310	N	1	B	0.23058	0.079	B	0.12156	0.007	T	0.08953	-1.0697	10	0.41790	T	0.15	-6.4701	1.8024	0.03073	0.1382:0.1932:0.4685:0.2001	.	8	Q9Y5J1	UTP18_HUMAN	Q	8	ENSP00000225298:R8Q	ENSP00000225298:R8Q	R	+	2	0	UTP18	46692967	0.043000	0.20138	0.430000	0.26722	0.780000	0.44128	0.931000	0.28871	2.408000	0.81797	0.543000	0.68304	CGA		0.687	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368654.1		NM_016001		7	19	0	0	0	0.006214	0	7	19		
MARCH10	162333	broad.mit.edu	37	17	60813767	60813767	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:60813767C>A	ENST00000311269.5	-	6	1736	c.1462G>T	c.(1462-1464)Gac>Tac	p.D488Y	MARCH10_ENST00000456609.2_Missense_Mutation_p.D488Y|MARCH10_ENST00000583600.1_Missense_Mutation_p.D526Y|RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000544856.2_Missense_Mutation_p.D487Y|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	488					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						ATTGACAAGTCTACTGGAATA	0.433																																						uc010ddr.2		NaN																	0					0						c.(1462-1464)GAC>TAC		ring finger protein 190							86.0	83.0	84.0					17																	60813767		2203	4300	6503	SO:0001583	missense	162333						ligase activity|zinc ion binding	g.chr17:60813767C>A	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.1462G>T	17.37:g.60813767C>A	ENSP00000311496:p.Asp488Tyr					MARCH10_uc002jag.3_Missense_Mutation_p.D488Y|MARCH10_uc010dds.2_Missense_Mutation_p.D526Y|MARCH10_uc002jah.2_Missense_Mutation_p.D487Y|uc002jaj.1_RNA|uc002jak.2_RNA	p.D488Y	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN			6	1700	-			488					D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	c.1462G>T	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826186	0.32237	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.14266	2.53;2.53;2.52	5.37	3.33	0.38152	.	0.621499	0.16015	N	0.233601	T	0.30510	0.0767	M	0.68317	2.08	0.09310	N	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.69479	0.921;0.964;0.921	T	0.03202	-1.1061	10	0.72032	D	0.01	-4.2621	8.1217	0.30976	0.0:0.7994:0.0:0.2006	.	487;487;488	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	Y	488;488;487	ENSP00000416177:D488Y;ENSP00000311496:D488Y;ENSP00000443746:D487Y	ENSP00000311496:D488Y	D	-	1	0	MARCH10	58167499	0.000000	0.05858	0.567000	0.28434	0.291000	0.27294	0.304000	0.19228	1.370000	0.46153	0.561000	0.74099	GAC		0.433	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1		NM_152598		13	133	1	0	6.31663e-08	0.003163	6.56209e-08	13	133		
GPR142	350383	broad.mit.edu	37	17	72368385	72368385	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:72368385G>A	ENST00000335666.4	+	4	1083	c.1035G>A	c.(1033-1035)cgG>cgA	p.R345R		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	345						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GGAGGGGCCGGAGTGGGCTGC	0.627																																						uc010wqy.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1033-1035)CGG>CGA		G protein-coupled receptor 142							91.0	74.0	80.0					17																	72368385		2203	4300	6503	SO:0001819	synonymous_variant	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72368385G>A	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.1035G>A	17.37:g.72368385G>A						GPR142_uc010wqx.1_Silent_p.R257R	p.R345R	NM_181790	NP_861455	Q7Z601	GP142_HUMAN			4	1035	+			345			Cytoplasmic (Potential).		A4CYJ8|Q86SL3	Silent	SNP	ENST00000335666.4	37	c.1035G>A	CCDS11698.1																																																																																				0.627	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1		NM_181790		27	33	0	0	0	0.00632	0	27	33		
NUP85	79902	broad.mit.edu	37	17	73231773	73231773	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:73231773G>A	ENST00000245544.4	+	19	2041	c.1970G>A	c.(1969-1971)tGa>tAa	p.*657*	NUP85_ENST00000579298.1_Silent_p.*612*|NUP85_ENST00000447371.2_3'UTR|NUP85_ENST00000579324.1_Silent_p.*545*|NUP85_ENST00000540768.1_Silent_p.*260*|NUP85_ENST00000541827.1_Silent_p.*611*	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	0					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)			GAAGGTTCCTGAGAACTGCTT	0.398																																						uc002jng.1		NaN																	0				ovary(1)	1						c.(1969-1971)TGA>TAA		nucleoporin 85							76.0	73.0	74.0					17																	73231773		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:73231773G>A	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.1970G>A	17.37:g.73231773G>A						NUP85_uc010dgd.1_Silent_p.*612*|NUP85_uc010wrv.1_Silent_p.*611*|NUP85_uc002jnh.1_Silent_p.*260*	p.*657*	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		19	2230	+	all_lung(278;0.14)|Lung NSC(278;0.168)		657					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Silent	SNP	ENST00000245544.4	37	c.1970G>A	CCDS32730.1																																																																																				0.398	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1		NM_024844		8	70	0	0	0	0.008291	0	8	70		
SAP30BP	29115	broad.mit.edu	37	17	73695901	73695901	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:73695901G>A	ENST00000584667.1	+	5	603	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Missense_Mutation_p.E100K	NM_013260.6	NP_037392.1			SAP30 binding protein											kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTCGCCTGATGAAATCAAGAT	0.473																																						uc002jpe.2		NaN																	0				ovary(1)	1						c.(346-348)GAA>AAA		transcriptional regulator protein							122.0	135.0	130.0					17																	73695901		2203	4300	6503	SO:0001583	missense	29115				apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr17:73695901G>A	AY082382	CCDS11726.1	17q25.1	2006-01-05				ENSG00000161526			30785	protein-coding gene	gene with protein product		610218				15496587	Standard	NM_013260		Approved	HCNGP, HTRG, HTRP	uc002jpe.3	Q9UHR5		ENST00000584667.1:c.346G>A	17.37:g.73695901G>A	ENSP00000462116:p.Glu116Lys					SAP30BP_uc002jpc.1_RNA|SAP30BP_uc010wsf.1_RNA|SAP30BP_uc010wsg.1_RNA|SAP30BP_uc002jpf.2_Missense_Mutation_p.E100K	p.E116K	NM_013260	NP_037392	Q9UHR5	S30BP_HUMAN	all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		5	400	+	all_cancers(13;6.42e-08)		116						Missense_Mutation	SNP	ENST00000584667.1	37	c.346G>A	CCDS11726.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049304	0.55218	.	.	ENSG00000161526	ENST00000355423;ENST00000542343;ENST00000293208	.	.	.	5.59	4.62	0.57501	.	0.100276	0.64402	D	0.000002	T	0.42314	0.1197	N	0.25647	0.755	0.58432	D	0.999999	B;B	0.09022	0.0;0.002	B;B	0.09377	0.004;0.002	T	0.23833	-1.0177	9	0.15499	T	0.54	-0.0436	13.8948	0.63764	0.0729:0.0:0.9271:0.0	.	100;116	Q9UHR5-2;Q9UHR5	.;S30BP_HUMAN	K	116;116;100	.	ENSP00000293208:E100K	E	+	1	0	SAP30BP	71207496	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.153000	0.64888	2.612000	0.88384	0.655000	0.94253	GAA		0.473	SAP30BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448227.1		NM_013260		73	175	0	0	0	0.01441	0	73	175		
SAP30BP	29115	broad.mit.edu	37	17	73695932	73695932	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:73695932G>C	ENST00000584667.1	+	5	634	c.377G>C	c.(376-378)aGa>aCa	p.R126T	SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Missense_Mutation_p.R110T	NM_013260.6	NP_037392.1			SAP30 binding protein											kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCCCTGGCAGATGTTCAAAT	0.453																																						uc002jpe.2		NaN																	0				ovary(1)	1						c.(376-378)AGA>ACA		transcriptional regulator protein							105.0	118.0	114.0					17																	73695932		2203	4300	6503	SO:0001583	missense	29115				apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr17:73695932G>C	AY082382	CCDS11726.1	17q25.1	2006-01-05				ENSG00000161526			30785	protein-coding gene	gene with protein product		610218				15496587	Standard	NM_013260		Approved	HCNGP, HTRG, HTRP	uc002jpe.3	Q9UHR5		ENST00000584667.1:c.377G>C	17.37:g.73695932G>C	ENSP00000462116:p.Arg126Thr					SAP30BP_uc002jpc.1_RNA|SAP30BP_uc010wsf.1_RNA|SAP30BP_uc010wsg.1_RNA|SAP30BP_uc002jpf.2_Missense_Mutation_p.R110T	p.R126T	NM_013260	NP_037392	Q9UHR5	S30BP_HUMAN	all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		5	431	+	all_cancers(13;6.42e-08)		126						Missense_Mutation	SNP	ENST00000584667.1	37	c.377G>C	CCDS11726.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157701	0.78114	.	.	ENSG00000161526	ENST00000355423;ENST00000542343;ENST00000293208	.	.	.	5.59	5.59	0.84812	.	0.048890	0.85682	D	0.000000	T	0.70850	0.3271	M	0.65975	2.015	0.80722	D	1	B;B	0.28400	0.21;0.083	B;B	0.36186	0.109;0.219	T	0.66803	-0.5831	9	0.32370	T	0.25	0.3537	19.6012	0.95563	0.0:0.0:1.0:0.0	.	110;126	Q9UHR5-2;Q9UHR5	.;S30BP_HUMAN	T	126;126;110	.	ENSP00000293208:R110T	R	+	2	0	SAP30BP	71207527	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	9.175000	0.94831	2.612000	0.88384	0.655000	0.94253	AGA		0.453	SAP30BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448227.1		NM_013260		53	152	0	0	0	0.01441	0	53	152		
EIF4A3	9775	broad.mit.edu	37	17	78111277	78111277	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:78111277C>T	ENST00000269349.3	-	9	1112	c.891G>A	c.(889-891)atG>atA	p.M297I		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	297	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TGGCTTCCCTCATTTTCTCCG	0.517																																						uc010wuc.1		NaN																	0				ovary(1)	1						c.(889-891)ATG>ATA		eukaryotic translation initiation factor 4A,							124.0	93.0	104.0					17																	78111277		2203	4300	6503	SO:0001583	missense	9775				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding	g.chr17:78111277C>T	BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"""DEAD-boxes"""	18683	protein-coding gene	gene with protein product		608546	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 48"", ""eukaryotic translation initiation factor 4A, isoform 3"""	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.891G>A	17.37:g.78111277C>T	ENSP00000269349:p.Met297Ile					EIF4A3_uc002jxs.2_Missense_Mutation_p.M297I	p.M297I	NM_014740	NP_055555	P38919	IF4A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		10	964	-	all_neural(118;0.117)		297			Helicase C-terminal.		Q15033|Q6IBQ2|Q96A18	Missense_Mutation	SNP	ENST00000269349.3	37	c.891G>A	CCDS11767.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735862	0.69189	.	.	ENSG00000141543	ENST00000269349	T	0.04234	3.67	4.3	4.3	0.51218	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.09642	0.0237	N	0.21508	0.67	0.80722	D	1	P	0.43750	0.816	P	0.56278	0.795	T	0.16217	-1.0410	10	0.87932	D	0	-24.4892	14.2742	0.66170	0.0:1.0:0.0:0.0	.	297	P38919	IF4A3_HUMAN	I	297	ENSP00000269349:M297I	ENSP00000269349:M297I	M	-	3	0	EIF4A3	75725872	1.000000	0.71417	0.987000	0.45799	0.381000	0.30169	7.201000	0.77847	2.229000	0.72834	0.650000	0.86243	ATG		0.517	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437446.1		NM_014740		24	24	0	0	0	0.00632	0	24	24		
NDC80	10403	broad.mit.edu	37	18	2578034	2578034	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:2578034G>C	ENST00000261597.4	+	5	552	c.370G>C	c.(370-372)Gac>Cac	p.D124H		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	124	Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						CTCTGTTAAAGACTTCCTGAA	0.368																																						uc002kli.2		NaN																	0				ovary(1)	1						c.(370-372)GAC>CAC		kinetochore associated 2							160.0	145.0	150.0					18																	2578034		2203	4300	6503	SO:0001583	missense	10403				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	g.chr18:2578034G>C	AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"""highly expressed in cancer, rich in leucine heptad repeats (yeast)"", ""kinetochore associated 2"", ""NDC80 kinetochore complex component homolog (S. cerevisiae)"""	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.370G>C	18.37:g.2578034G>C	ENSP00000261597:p.Asp124His						p.D124H	NM_006101	NP_006092	O14777	NDC80_HUMAN			5	552	+			124			Interaction with the N-terminus of CDCA1.|Nuclear localization.		Q6PJX2	Missense_Mutation	SNP	ENST00000261597.4	37	c.370G>C	CCDS11827.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254783	0.59212	.	.	ENSG00000080986	ENST00000261597;ENST00000543946	T	0.53640	0.61	5.95	5.95	0.96441	.	0.089501	0.85682	D	0.000000	T	0.72969	0.3527	M	0.85542	2.76	0.80722	D	1	D	0.69078	0.997	D	0.65140	0.932	T	0.75706	-0.3224	10	0.72032	D	0.01	-10.6021	20.3931	0.98965	0.0:0.0:1.0:0.0	.	124	O14777	NDC80_HUMAN	H	124	ENSP00000261597:D124H	ENSP00000261597:D124H	D	+	1	0	NDC80	2568034	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.417000	0.90247	2.824000	0.97209	0.655000	0.94253	GAC		0.368	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1		NM_006101		8	246	0	0	0	0.006214	0	8	246		
LPIN2	9663	broad.mit.edu	37	18	2921615	2921615	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:2921615G>A	ENST00000261596.4	-	18	2596	c.2358C>T	c.(2356-2358)ttC>ttT	p.F786F	RP11-737O24.5_ENST00000608032.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	786	C-LIP.				cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		ACTCAATTTTGAACTTCTCTG	0.393																																						uc002klo.2		NaN																	0				ovary(1)|skin(1)	2						c.(2356-2358)TTC>TTT		lipin 2							98.0	96.0	97.0					18																	2921615		2203	4300	6503	SO:0001819	synonymous_variant	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2921615G>A	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.2358C>T	18.37:g.2921615G>A							p.F786F	NM_014646	NP_055461	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	18	2597	-			786			C-LIP.		A7MD25|D3DUH3	Silent	SNP	ENST00000261596.4	37	c.2358C>T	CCDS11829.1																																																																																				0.393	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2		NM_014646		8	204	0	0	0	0.004482	0	8	204		
EPB41L3	23136	broad.mit.edu	37	18	5489114	5489114	+	Silent	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:5489114C>A	ENST00000341928.2	-	2	409	c.69G>T	c.(67-69)gcG>gcT	p.A23A	EPB41L3_ENST00000540638.2_Silent_p.A23A|EPB41L3_ENST00000400111.3_Silent_p.A23A|EPB41L3_ENST00000342933.3_Silent_p.A23A|EPB41L3_ENST00000544123.1_Silent_p.A23A	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	23					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						cctgcgcccccgccgccTCCT	0.687																																						uc002kmt.1		NaN																	0				ovary(5)	5						c.(67-69)GCG>GCT		erythrocyte membrane protein band 4.1-like 3							18.0	20.0	19.0					18																	5489114		2136	4161	6297	SO:0001819	synonymous_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5489114C>A	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.69G>T	18.37:g.5489114C>A						EPB41L3_uc010wzh.1_Silent_p.A23A|EPB41L3_uc002kmu.1_Silent_p.A23A|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Silent_p.A45A|EPB41L3_uc002kmv.1_5'UTR	p.A23A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			2	155	-			23					B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	c.69G>T	CCDS11838.1																																																																																				0.687	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1		NM_012307		31	57	1	0	1.30293e-26	0.003271	1.397e-26	31	57		
PPP4R1	9989	broad.mit.edu	37	18	9570582	9570582	+	Silent	SNP	C	C	T	rs200192249		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:9570582C>T	ENST00000400556.3	-	11	1219	c.1146G>A	c.(1144-1146)acG>acA	p.T382T	PPP4R1_ENST00000400555.3_Silent_p.T365T	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	382					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						GGTCTTCCATCGTGTTTTCCA	0.478													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17065	0.0		0.0	False		,,,				2504	0.0				Melanoma(188;1232 2082 5061 11948 35994)	uc002koe.1		NaN																	0				skin(1)	1						c.(1144-1146)ACG>ACA		protein phosphatase 4, regulatory subunit 1							83.0	81.0	82.0					18																	9570582		1916	4114	6030	SO:0001819	synonymous_variant	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9570582C>T	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.1146G>A	18.37:g.9570582C>T						PPP4R1_uc002kof.2_5'UTR|PPP4R1_uc010wzo.1_Silent_p.T228T|PPP4R1_uc002kod.1_Silent_p.T365T|PPP4R1_uc010wzp.1_RNA	p.T382T	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN			11	1264	-			382					Q99774|Q9UNQ7	Silent	SNP	ENST00000400556.3	37	c.1146G>A	CCDS42412.1																																																																																				0.478	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1		NM_005134		161	79	0	0	0	0.01441	0	161	79		
AFG3L2	10939	broad.mit.edu	37	18	12367072	12367072	+	Silent	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:12367072G>C	ENST00000269143.3	-	5	675	c.444C>G	c.(442-444)ctC>ctG	p.L148L		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	148					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	GAGCAGTCCAGAGGAAGAACA	0.453																																						uc002kqz.1		NaN																	0					0						c.(442-444)CTC>CTG		AFG3 ATPase family gene 3-like 2	Adenosine triphosphate(DB00171)						98.0	86.0	90.0					18																	12367072		2203	4300	6503	SO:0001819	synonymous_variant	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12367072G>C	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.444C>G	18.37:g.12367072G>C							p.L148L	NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN			5	557	-			148			Helical; (Potential).		Q6P1L0	Silent	SNP	ENST00000269143.3	37	c.444C>G	CCDS11859.1																																																																																				0.453	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2		NM_006796		11	192	0	0	0	0.013537	0	11	192		
ANKRD30B	374860	broad.mit.edu	37	18	14764040	14764040	+	Silent	SNP	T	T	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:14764040T>C	ENST00000358984.4	+	7	1356	c.1176T>C	c.(1174-1176)aaT>aaC	p.N392N	ANKRD30B_ENST00000447268.2_Silent_p.N392N|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	392										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAACATCTAATATGATTGCAT	0.383																																						uc010dlo.2		NaN																	0				ovary(1)|skin(1)	2						c.(1174-1176)AAT>AAC		ankyrin repeat domain 30B							24.0	19.0	21.0					18																	14764040		692	1590	2282	SO:0001819	synonymous_variant	374860							g.chr18:14764040T>C	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1176T>C	18.37:g.14764040T>C						ANKRD30B_uc010xak.1_RNA	p.N392N	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN			7	1356	+			392					B4DGP1|F8WAG3|Q4G175	Silent	SNP	ENST00000358984.4	37	c.1176T>C	CCDS54182.1																																																																																				0.383	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1		NM_001145029		32	9	0	0	0	0.004289	0	32	9		
ZNF521	25925	broad.mit.edu	37	18	22807046	22807046	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:22807046G>A	ENST00000361524.3	-	4	984	c.836C>T	c.(835-837)gCg>gTg	p.A279V	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.A59V|ZNF521_ENST00000538137.2_Missense_Mutation_p.A279V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	279					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTGGAGGGCCGCTCGGTCCTC	0.557			T	PAX5	ALL																																	uc002kvk.2		NaN		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				ovary(4)|large_intestine(2)|lung(1)	7						c.(835-837)GCG>GTG		zinc finger protein 521							102.0	95.0	97.0					18																	22807046		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22807046G>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.836C>T	18.37:g.22807046G>A	ENSP00000354794:p.Ala279Val					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.A279V|ZNF521_uc002kvl.2_Missense_Mutation_p.A59V	p.A279V	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	1083	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		279					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.836C>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295102	0.40594	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09630	2.96;2.98	6.02	6.02	0.97574	.	0.110174	0.64402	D	0.000007	T	0.15869	0.0382	L	0.38175	1.15	0.46203	D	0.998926	P	0.46706	0.883	P	0.45138	0.471	T	0.00141	-1.1998	10	0.87932	D	0	-24.0898	20.5407	0.99260	0.0:0.0:1.0:0.0	.	279	Q96K83	ZN521_HUMAN	V	279;313;279	ENSP00000354794:A279V;ENSP00000382352:A279V	ENSP00000354794:A279V	A	-	2	0	ZNF521	21061044	1.000000	0.71417	0.379000	0.26080	0.989000	0.77384	9.199000	0.95003	2.865000	0.98341	0.655000	0.94253	GCG		0.557	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2		NM_015461		3	55	0	0	0	0.004672	0	3	55		
DSC3	1825	broad.mit.edu	37	18	28588292	28588292	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:28588292G>A	ENST00000360428.4	-	10	1543	c.1463C>T	c.(1462-1464)tCa>tTa	p.S488L	DSC3_ENST00000434452.1_Missense_Mutation_p.S488L	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	488	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GTTGATCTTTGACCCCACTGC	0.403																																						uc002kwj.3		NaN																	0				ovary(2)|skin(2)	4						c.(1462-1464)TCA>TTA		desmocollin 3 isoform Dsc3a preproprotein							96.0	85.0	89.0					18																	28588292		2203	4300	6503	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28588292G>A	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1463C>T	18.37:g.28588292G>A	ENSP00000353608:p.Ser488Leu					DSC3_uc002kwi.3_Missense_Mutation_p.S488L	p.S488L	NM_001941	NP_001932	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		10	1618	-			488			Cadherin 4.|Extracellular (Potential).		A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.1463C>T	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	G	9.649	1.140934	0.21205	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.53206	0.63;0.63	5.34	1.19	0.21007	Cadherin (3);Cadherin-like (1);	1.450790	0.05197	N	0.504166	T	0.51601	0.1684	M	0.77712	2.385	0.09310	N	0.999997	B;B	0.12013	0.005;0.004	B;B	0.15870	0.014;0.008	T	0.48747	-0.9008	10	0.87932	D	0	.	8.9447	0.35751	0.3348:0.0:0.6652:0.0	.	488;488	Q14574;Q14574-2	DSC3_HUMAN;.	L	488	ENSP00000353608:S488L;ENSP00000392068:S488L	ENSP00000353608:S488L	S	-	2	0	DSC3	26842290	0.008000	0.16893	0.002000	0.10522	0.145000	0.21501	0.396000	0.20867	0.088000	0.17205	0.650000	0.86243	TCA		0.403	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1		NM_001941, NM_024423		5	22	0	0	0	0.001168	0	5	22		
DSG4	147409	broad.mit.edu	37	18	28972175	28972175	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:28972175A>G	ENST00000308128.4	+	8	1012	c.877A>G	c.(877-879)Att>Gtt	p.I293V	DSG4_ENST00000359747.4_Missense_Mutation_p.I293V|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	293	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Missing (in HYPT6). {ECO:0000269|PubMed:12705872, ECO:0000269|PubMed:15191570}.		anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATTACAAGCAATTGATCTTGA	0.343																																						uc002kwq.2		NaN																	0				central_nervous_system(5)|ovary(3)	8						c.(877-879)ATT>GTT		desmoglein 4 isoform 2 preproprotein							130.0	128.0	129.0					18																	28972175		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28972175A>G	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.877A>G	18.37:g.28972175A>G	ENSP00000311859:p.Ile293Val					DSG4_uc002kwr.2_Missense_Mutation_p.I293V	p.I293V	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		8	1012	+			293		Missing (in LAH1).	Cadherin 3.|Extracellular (Potential).		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.877A>G	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	A	11.19	1.565027	0.27915	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.51325	0.71;0.71	5.45	4.27	0.50696	Cadherin (4);Cadherin-like (1);	0.000000	0.35235	N	0.003344	T	0.38188	0.1031	L	0.52011	1.625	0.25693	N	0.985663	P;B	0.36330	0.548;0.028	B;B	0.41466	0.358;0.1	T	0.19811	-1.0294	10	0.14252	T	0.57	.	3.0983	0.06317	0.5023:0.2956:0.0747:0.1275	.	293;293	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	V	293	ENSP00000311859:I293V;ENSP00000352785:I293V	ENSP00000311859:I293V	I	+	1	0	DSG4	27226173	0.946000	0.32159	1.000000	0.80357	0.987000	0.75469	0.273000	0.18662	0.992000	0.38840	0.533000	0.62120	ATT		0.343	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1		NM_177986		9	54	0	0	0	0.008291	0	9	54		
MC4R	4160	broad.mit.edu	37	18	58038604	58038604	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:58038604C>T	ENST00000299766.3	-	1	1397	c.979G>A	c.(979-981)Gac>Aac	p.D327N		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	327					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				CTAGACAAGTCACAAAGGCCT	0.418																																						uc002lie.1		NaN																	0				lung(1)	1						c.(979-981)GAC>AAC		melanocortin 4 receptor							119.0	117.0	118.0					18																	58038604		2203	4300	6503	SO:0001583	missense	4160				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	g.chr18:58038604C>T	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.979G>A	18.37:g.58038604C>T	ENSP00000299766:p.Asp327Asn						p.D327N	NM_005912	NP_005903	P32245	MC4R_HUMAN			1	1398	-		Colorectal(73;0.0946)	327			Cytoplasmic (Potential).		B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP	ENST00000299766.3	37	c.979G>A	CCDS11976.1	.	.	.	.	.	.	.	.	.	.	C	8.146	0.786330	0.16189	.	.	ENSG00000166603	ENST00000299766	T	0.57907	0.37	5.65	4.78	0.61160	.	0.355818	0.28198	N	0.016231	T	0.34919	0.0914	N	0.16478	0.41	0.34648	D	0.721387	B	0.02656	0.0	B	0.04013	0.001	T	0.40534	-0.9558	10	0.21014	T	0.42	.	12.3576	0.55184	0.0:0.9198:0.0:0.0802	.	327	P32245	MC4R_HUMAN	N	327	ENSP00000299766:D327N	ENSP00000299766:D327N	D	-	1	0	MC4R	56189584	1.000000	0.71417	0.999000	0.59377	0.435000	0.31806	3.123000	0.50453	1.636000	0.50526	-0.136000	0.14681	GAC		0.418	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1		NM_005912		41	23	0	0	0	0.01441	0	41	23		
ATP9B	374868	broad.mit.edu	37	18	77089190	77089190	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:77089190G>C	ENST00000426216.2	+	16	1840	c.1823G>C	c.(1822-1824)aGg>aCg	p.R608T	ATP9B_ENST00000307671.7_Missense_Mutation_p.R608T|ATP9B_ENST00000543761.1_5'Flank	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	608					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CTGGTCAGCAGGGACCTCACC	0.622																																						uc002lmx.2		NaN																	0				ovary(3)	3						c.(1822-1824)AGG>ACG		ATPase, class II, type 9B							65.0	56.0	59.0					18																	77089190		2203	4300	6503	SO:0001583	missense	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:77089190G>C	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.1823G>C	18.37:g.77089190G>C	ENSP00000398076:p.Arg608Thr					ATP9B_uc002lmv.1_RNA|ATP9B_uc002lmw.1_Missense_Mutation_p.R608T|ATP9B_uc002lmz.1_Missense_Mutation_p.R302T	p.R608T	NM_198531	NP_940933	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	16	1837	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	608			Cytoplasmic (Potential).		O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	c.1823G>C	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835325	0.91117	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	T;T	0.72725	-0.68;-0.68	5.07	5.07	0.68467	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.85583	0.5730	M	0.89840	3.065	0.80722	D	1	D;D	0.59767	0.986;0.982	P;P	0.59012	0.85;0.767	D	0.89121	0.3503	10	0.87932	D	0	.	18.4752	0.90790	0.0:0.0:1.0:0.0	.	608;608	O43861;O43861-2	ATP9B_HUMAN;.	T	608	ENSP00000398076:R608T;ENSP00000304500:R608T	ENSP00000304500:R608T	R	+	2	0	ATP9B	75190178	1.000000	0.71417	0.993000	0.49108	0.952000	0.60782	9.389000	0.97243	2.355000	0.79922	0.655000	0.94253	AGG		0.622	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3		NM_198531		6	16	0	0	0	0.001168	0	6	16		
PIAS4	51588	broad.mit.edu	37	19	4028756	4028756	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:4028756G>C	ENST00000262971.2	+	6	826	c.711G>C	c.(709-711)aaG>aaC	p.K237N	PIAS4_ENST00000596144.1_3'UTR	NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	237	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGCCCAAGAGGCCGTGCC	0.647																																						uc002lzg.2		NaN																	0				pancreas(1)	1						c.(709-711)AAG>AAC		protein inhibitor of activated STAT, 4							80.0	72.0	75.0					19																	4028756		2203	4300	6503	SO:0001583	missense	51588				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chr19:4028756G>C	AF077952	CCDS12118.1	19p13.3	2011-10-11						"""Zinc fingers, MIZ-type"""	17002	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 6"""	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.711G>C	19.37:g.4028756G>C	ENSP00000262971:p.Lys237Asn						p.K237N	NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	6	721	+			237			PINIT.		O75926|Q96G19|Q9UN16	Missense_Mutation	SNP	ENST00000262971.2	37	c.711G>C	CCDS12118.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699510	0.68501	.	.	ENSG00000105229	ENST00000262971	T	0.38077	1.16	4.74	2.41	0.29592	PINIT domain (1);	0.057317	0.64402	D	0.000002	T	0.50599	0.1625	M	0.63843	1.955	0.47737	D	0.999503	D	0.89917	1.0	D	0.79108	0.992	T	0.49995	-0.8879	10	0.72032	D	0.01	-37.3496	6.9878	0.24737	0.3492:0.0:0.6508:0.0	.	237	Q8N2W9	PIAS4_HUMAN	N	237	ENSP00000262971:K237N	ENSP00000262971:K237N	K	+	3	2	PIAS4	3979756	0.991000	0.36638	1.000000	0.80357	0.898000	0.52572	0.368000	0.20399	0.986000	0.38683	0.555000	0.69702	AAG		0.647	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1		NM_015897		7	32	0	0	0	0.006214	0	7	32		
PLIN4	729359	broad.mit.edu	37	19	4511893	4511893	+	Silent	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:4511893C>G	ENST00000301286.3	-	3	2036	c.2037G>C	c.(2035-2037)ctG>ctC	p.L679L		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	679	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGGTGCCGGTCAGCACGGTCT	0.577																																						uc002mar.1		NaN																	0					0						c.(2035-2037)CTG>CTC		plasma membrane associated protein, S3-12							187.0	199.0	195.0					19																	4511893		2145	4234	6379	SO:0001819	synonymous_variant	729359					lipid particle|plasma membrane		g.chr19:4511893C>G	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2037G>C	19.37:g.4511893C>G						PLIN4_uc010dub.1_5'Flank	p.L679L	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN			3	2037	-			679			18.|27 X 33 AA approximate tandem repeat.		A6NEI2	Silent	SNP	ENST00000301286.3	37	c.2037G>C	CCDS45927.1																																																																																				0.577	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1		XM_170901		11	252	0	0	0	0.00245	0	11	252		
UHRF1	29128	broad.mit.edu	37	19	4944248	4944248	+	RNA	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:4944248C>G	ENST00000592666.1	+	0	1754							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		ACATCGTCCTCACAGCGGGAC	0.652																																						uc002mbo.2		NaN																	0				lung(2)	2						c.(1177-1179)TCA>TGA		ubiquitin-like with PHD and ring finger domains							61.0	74.0	70.0					19																	4944248		2087	4198	6285			29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4944248C>G	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4944248C>G						UHRF1_uc010xik.1_RNA|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Nonsense_Mutation_p.S406*	p.S393*	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	8	1346	+			393			Methyl-CpG binding and interaction with HDAC1.		A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	Nonsense_Mutation	SNP	ENST00000592666.1	37	c.1178C>G		.	.	.	.	.	.	.	.	.	.	C	37	6.352898	0.97498	.	.	ENSG00000034063	ENST00000262952;ENST00000396708;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.21	4.21	0.49690	.	0.122498	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-24.3079	12.6192	0.56594	0.0:0.8332:0.1667:0.0	.	.	.	.	X	393;8;393;393;406	.	ENSP00000262952:S393X	S	+	2	0	UHRF1	4895248	1.000000	0.71417	0.880000	0.34516	0.802000	0.45316	4.132000	0.57977	2.193000	0.70182	0.561000	0.74099	TCA		0.652	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1		NM_001048201		4	39	0	0	0	0.001168	0	4	39		
GPR108	56927	broad.mit.edu	37	19	6732095	6732095	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:6732095C>T	ENST00000264080.7	-	13	1223	c.1197G>A	c.(1195-1197)aaG>aaA	p.K399K	GPR108_ENST00000430424.4_Silent_p.K157K|GPR108_ENST00000598626.1_5'Flank	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	399						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						ACAAAATCTCCTTCCACAGCA	0.652																																						uc002mfp.2		NaN																	0					0						c.(1195-1197)AAG>AAA		G protein-coupled receptor 108 isoform 1							54.0	67.0	62.0					19																	6732095		2178	4272	6450	SO:0001819	synonymous_variant	56927					integral to membrane		g.chr19:6732095C>T		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.1197G>A	19.37:g.6732095C>T						GPR108_uc010duv.2_5'UTR|GPR108_uc002mfn.2_Silent_p.K70K|GPR108_uc002mfo.3_Silent_p.K157K|GPR108_uc010duw.2_RNA	p.K399K	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN			13	1243	-			399					B9EJD7	Silent	SNP	ENST00000264080.7	37	c.1197G>A	CCDS42479.1																																																																																				0.652	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2				12	4	0	0	0	0.001855	0	12	4		
ZNF823	55552	broad.mit.edu	37	19	11833886	11833886	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:11833886C>G	ENST00000341191.6	-	4	616	c.463G>C	c.(463-465)Gaa>Caa	p.E155Q	ZNF823_ENST00000545749.1_5'UTR|CTC-499B15.6_ENST00000586983.1_RNA	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	155					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(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						GGGGGCCTTTCATGTGTCTGG	0.468										HNSCC(68;0.2)																												uc002msm.2		NaN																	0				ovary(2)	2						c.(463-465)GAA>CAA		ZFP-36 for a zinc finger protein							171.0	172.0	172.0					19																	11833886		2201	4300	6501	SO:0001583	missense	55552				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11833886C>G	X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"""Zinc fingers, C2H2-type"", ""-"""	30936	protein-coding gene	gene with protein product	"""ZFP 36 for a zinc finger protein"""						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.463G>C	19.37:g.11833886C>G	ENSP00000340683:p.Glu155Gln	HNSCC(68;0.2)				ZNF823_uc010xmd.1_5'UTR|ZNF823_uc010dyi.1_Missense_Mutation_p.E111Q	p.E155Q	NM_001080493	NP_001073962	P16415	ZN823_HUMAN			4	589	-			155					A0PJL4|B7Z8D4|Q6P4A9	Missense_Mutation	SNP	ENST00000341191.6	37	c.463G>C	CCDS45981.1	.	.	.	.	.	.	.	.	.	.	c	8.806	0.934008	0.18206	.	.	ENSG00000197933	ENST00000341191;ENST00000431998	T;T	0.26957	1.7;1.7	0.632	-1.03	0.10102	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12732	0.0309	N	0.12920	0.275	0.54753	D	0.999987	D	0.59767	0.986	P	0.52343	0.696	T	0.50448	-0.8827	9	0.02654	T	1	.	0.2763	0.00238	0.2556:0.2784:0.2544:0.2116	.	155	P16415	ZN823_HUMAN	Q	155;111	ENSP00000340683:E155Q;ENSP00000410654:E111Q	ENSP00000340683:E155Q	E	-	1	0	ZNF823	11694886	0.000000	0.05858	0.028000	0.17463	0.144000	0.21451	-2.962000	0.00672	-0.271000	0.09272	0.298000	0.19748	GAA		0.468	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2		NM_001080493		13	68	0	0	0	0.001855	0	13	68		
ABHD8	79575	broad.mit.edu	37	19	17405223	17405223	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:17405223C>A	ENST00000247706.3	-	4	1262	c.1023G>T	c.(1021-1023)atG>atT	p.M341I	CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	341							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GGCCGCTCATCATGGCCCGGA	0.632																																					Ovarian(156;1368 2543 15275 41187)	uc002ngb.3		NaN																	0					0						c.(1021-1023)ATG>ATT		abhydrolase domain containing 8							143.0	113.0	123.0					19																	17405223		2203	4300	6503	SO:0001583	missense	79575						hydrolase activity	g.chr19:17405223C>A	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.1023G>T	19.37:g.17405223C>A	ENSP00000247706:p.Met341Ile						p.M341I	NM_024527	NP_078803	Q96I13	ABHD8_HUMAN			4	1263	-			341					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.1023G>T	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834557	0.32421	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.39787	1.06	5.28	3.13	0.36017	.	0.042434	0.85682	D	0.000000	T	0.30978	0.0782	L	0.39085	1.19	0.48762	D	0.999702	B	0.17852	0.024	B	0.18871	0.023	T	0.07195	-1.0785	10	0.41790	T	0.15	-54.2996	8.8696	0.35307	0.0:0.7654:0.1509:0.0837	.	341	Q96I13	ABHD8_HUMAN	I	341;287	ENSP00000247706:M341I	ENSP00000247706:M341I	M	-	3	0	ABHD8	17266223	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	3.692000	0.54727	0.606000	0.29965	-0.175000	0.13238	ATG		0.632	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1		NM_024527		18	158	1	0	8.34094e-07	0.008871	8.57619e-07	18	158		
ZNF536	9745	broad.mit.edu	37	19	31039136	31039136	+	Silent	SNP	G	G	A	rs149881182	byFrequency	TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:31039136G>A	ENST00000355537.3	+	4	2757	c.2610G>A	c.(2608-2610)tcG>tcA	p.S870S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	870					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GAGATCACTCGGGGCAGGCCA	0.582																																						uc002nsu.1		NaN																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(2608-2610)TCG>TCA		zinc finger protein 536							69.0	73.0	72.0					19																	31039136		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039136G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2610G>A	19.37:g.31039136G>A						ZNF536_uc010edd.1_Silent_p.S870S	p.S870S	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	2748	+	Esophageal squamous(110;0.0834)		870					A2RU18	Silent	SNP	ENST00000355537.3	37	c.2610G>A	CCDS32984.1																																																																																				0.582	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2		NM_014717		31	40	0	0	0	0.009535	0	31	40		
SARS2	54938	broad.mit.edu	37	19	39421292	39421292	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:39421292T>C	ENST00000221431.6	-	1	244	c.85A>G	c.(85-87)Agt>Ggt	p.S29G	SARS2_ENST00000594171.1_5'Flank|MRPS12_ENST00000402029.3_5'Flank|MRPS12_ENST00000308018.4_5'UTR|SARS2_ENST00000430193.3_Missense_Mutation_p.S29G|MRPS12_ENST00000407800.2_5'Flank|SARS2_ENST00000600042.1_Missense_Mutation_p.S29G|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000448145.2_Intron	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	29					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTCCTTGGACTATCGTTGGAG	0.607											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002oka.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(85-87)AGT>GGT		seryl-tRNA synthetase 2 isoform b precursor							78.0	62.0	68.0					19																	39421292		2203	4300	6503	SO:0001583	missense	54938				seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity	g.chr19:39421292T>C	AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	17697	protein-coding gene	gene with protein product	"""serine tRNA ligase 2, mitochondrial"""	612804	"""serine-tRNA ligase, mitochondrial"", ""seryl-tRNA synthetase 2"""	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.85A>G	19.37:g.39421292T>C	ENSP00000221431:p.Ser29Gly		OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	885	SARS2_uc002ojz.2_5'Flank|SARS2_uc010xup.1_Missense_Mutation_p.S29G|SARS2_uc002okb.2_Missense_Mutation_p.S29G|SARS2_uc010xuq.1_Intron|SARS2_uc010xur.1_RNA|SARS2_uc010xus.1_Missense_Mutation_p.S29G|MRPS12_uc002okc.2_5'Flank|MRPS12_uc002okd.2_5'Flank|MRPS12_uc002oke.2_5'Flank	p.S29G	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		1	245	-	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		29					A6NHW7|B4DE10|Q9BVP3	Missense_Mutation	SNP	ENST00000221431.6	37	c.85A>G	CCDS33017.1	.	.	.	.	.	.	.	.	.	.	T	12.92	2.082889	0.36758	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000455102	T;T;T	0.55930	0.49;0.49;1.34	4.79	2.66	0.31614	.	0.445988	0.25453	N	0.030579	T	0.43166	0.1235	L	0.50919	1.6	.	.	.	B;B;B	0.20887	0.034;0.0;0.049	B;B;B	0.24394	0.053;0.002;0.016	T	0.50074	-0.8870	9	0.72032	D	0.01	.	5.5524	0.17097	0.1732:0.0:0.1813:0.6455	.	29;29;29	B4DJP6;B4DE10;Q9NP81	.;.;SYSM_HUMAN	G	29	ENSP00000406754:S29G;ENSP00000221431:S29G;ENSP00000414954:S29G	ENSP00000221431:S29G	S	-	1	0	FBXO17	44113132	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.486000	0.22340	0.530000	0.28619	-1.411000	0.01122	AGT		0.607	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1		NM_017827		3	88	0	0	0	0.004672	0	3	88		
AXL	558	broad.mit.edu	37	19	41737167	41737167	+	Silent	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:41737167G>C	ENST00000301178.4	+	6	937	c.747G>C	c.(745-747)ctG>ctC	p.L249L	AXL_ENST00000593513.1_5'UTR|AXL_ENST00000359092.3_Silent_p.L249L	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	249	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CTCCAGGCCTGAGCGGCATCT	0.622																																						uc010ehj.2		NaN																	0				lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						c.(745-747)CTG>CTC		AXL receptor tyrosine kinase isoform 1							68.0	63.0	65.0					19																	41737167		2203	4300	6503	SO:0001819	synonymous_variant	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41737167G>C	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.747G>C	19.37:g.41737167G>C						CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Silent_p.L249L|AXL_uc010ehk.2_Silent_p.L249L	p.L249L	NM_021913	NP_068713	P30530	UFO_HUMAN			6	937	+			249			Extracellular (Potential).|Fibronectin type-III 1.		Q8N5L2|Q9UD27	Silent	SNP	ENST00000301178.4	37	c.747G>C	CCDS12575.1																																																																																				0.622	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2				4	77	0	0	0	0.001168	0	4	77		
ZNF221	7638	broad.mit.edu	37	19	44470975	44470975	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:44470975C>G	ENST00000251269.5	+	6	1649	c.1321C>G	c.(1321-1323)Cag>Gag	p.Q441E	ZNF221_ENST00000587682.1_Missense_Mutation_p.Q441E|ZNF221_ENST00000592350.1_Missense_Mutation_p.Q441E	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	441					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(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				ATCTTCCCATCAGAGATCCCA	0.433																																						uc002oxx.2		NaN																	0				skin(1)	1						c.(1321-1323)CAG>GAG		zinc finger protein 221							67.0	66.0	67.0					19																	44470975		2203	4300	6503	SO:0001583	missense	7638				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44470975C>G	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.1321C>G	19.37:g.44470975C>G	ENSP00000251269:p.Gln441Glu					ZNF221_uc010ejb.1_Missense_Mutation_p.Q441E|ZNF221_uc010xws.1_Missense_Mutation_p.Q441E	p.Q441E	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN			6	1649	+		Prostate(69;0.0352)	441			C2H2-type 10.		B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	ENST00000251269.5	37	c.1321C>G	CCDS12633.1	.	.	.	.	.	.	.	.	.	.	c	17.17	3.320328	0.60634	.	.	ENSG00000159905	ENST00000251269	T	0.17854	2.25	2.54	-0.142	0.13448	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20007	0.0481	L	0.41356	1.27	0.09310	N	1	P	0.48589	0.912	P	0.52159	0.691	T	0.15464	-1.0436	9	0.56958	D	0.05	.	6.8103	0.23801	0.0:0.6998:0.1781:0.122	.	441	Q9UK13	ZN221_HUMAN	E	441	ENSP00000251269:Q441E	ENSP00000251269:Q441E	Q	+	1	0	ZNF221	49162815	0.000000	0.05858	0.002000	0.10522	0.853000	0.48598	-0.009000	0.12765	0.371000	0.24564	0.313000	0.20887	CAG		0.433	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1				9	87	0	0	0	0.008291	0	9	87		
MARK4	57787	broad.mit.edu	37	19	45805792	45805792	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:45805792C>T	ENST00000262891.4	+	17	2414	c.2083C>T	c.(2083-2085)Ctg>Ttg	p.L695L	MARK4_ENST00000300843.4_3'UTR	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	695					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)		ACAGCCGTTCCTGCTGGCCTG	0.726																																						uc002pbb.1		NaN																	0				central_nervous_system(2)|large_intestine(1)	3						c.(2083-2085)CTG>TTG		RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;																																				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.chr19:45805792C>T	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.2083C>T	19.37:g.45805792C>T						MARK4_uc002pba.1_3'UTR	p.L695L			Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	17	2088	+		all_neural(266;0.224)|Ovarian(192;0.231)	695					Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Silent	SNP	ENST00000262891.4	37	c.2083C>T	CCDS56097.1																																																																																				0.726	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1		NM_031417		4	6	0	0	0	0.001984	0	4	6		
CD3EAP	10849	broad.mit.edu	37	19	45912513	45912513	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:45912513G>C	ENST00000309424.3	+	3	1775	c.1287G>C	c.(1285-1287)gaG>gaC	p.E429D	PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000588738.1_5'Flank|ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_Missense_Mutation_p.E431D	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	429					rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		agaagaaagagaGAGGTCACA	0.577																																						uc002pbq.1		NaN																	0				large_intestine(2)|ovary(2)	4						c.(1285-1287)GAG>GAC		CD3E antigen, epsilon polypeptide associated							43.0	51.0	48.0					19																	45912513		2201	4300	6501	SO:0001583	missense	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45912513G>C	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.1287G>C	19.37:g.45912513G>C	ENSP00000310966:p.Glu429Asp					PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_Missense_Mutation_p.E431D	p.E429D	NM_012099	NP_036231	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	3	1775	+		all_neural(266;0.224)|Ovarian(192;0.231)	429					Q32N11|Q7Z5U2|Q9UPF6	Missense_Mutation	SNP	ENST00000309424.3	37	c.1287G>C	CCDS12661.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303796	0.60305	.	.	ENSG00000117877	ENST00000309424	T	0.15372	2.43	5.25	-1.04	0.10068	.	0.398106	0.21222	N	0.078123	T	0.10380	0.0254	L	0.32530	0.975	0.09310	N	1	B;B	0.14805	0.011;0.006	B;B	0.09377	0.004;0.002	T	0.16748	-1.0392	10	0.87932	D	0	-3.7041	4.8074	0.13326	0.4288:0.2881:0.2831:0.0	.	431;429	O15446-2;O15446	.;RPA34_HUMAN	D	429	ENSP00000310966:E429D	ENSP00000310966:E429D	E	+	3	2	CD3EAP	50604353	0.000000	0.05858	0.003000	0.11579	0.911000	0.54048	-0.807000	0.04520	-0.598000	0.05806	0.561000	0.74099	GAG		0.577	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1		NM_012099		22	10	0	0	0	0.010504	0	22	10		
QPCTL	54814	broad.mit.edu	37	19	46206179	46206179	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:46206179C>G	ENST00000012049.5	+	7	1242	c.1021C>G	c.(1021-1023)Ctc>Gtc	p.L341V	QPCTL_ENST00000366382.4_Missense_Mutation_p.L247V	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	341					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		CGTGCTCCATCTCATCTCCAC	0.597																																						uc010xxr.1		NaN																	0				skin(1)	1						c.(1021-1023)CTC>GTC		glutaminyl-peptide cyclotransferase-like isoform							184.0	173.0	177.0					19																	46206179		2203	4300	6503	SO:0001583	missense	54814				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding	g.chr19:46206179C>G	AK000091	CCDS12672.1, CCDS54282.1	19q13.32	2014-09-04			ENSG00000011478	ENSG00000011478			25952	protein-coding gene	gene with protein product	"""glutaminyl cyclase-like"""						Standard	NM_017659		Approved	FLJ20084	uc010xxr.2	Q9NXS2	OTTHUMG00000182131	ENST00000012049.5:c.1021C>G	19.37:g.46206179C>G	ENSP00000012049:p.Leu341Val					QPCTL_uc010ekn.2_Missense_Mutation_p.L247V	p.L341V	NM_017659	NP_060129	Q9NXS2	QPCTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)	7	1242	+		Ovarian(192;0.051)|all_neural(266;0.112)	341					Q53HE4|Q96F74	Missense_Mutation	SNP	ENST00000012049.5	37	c.1021C>G	CCDS12672.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177570	0.38413	.	.	ENSG00000011478	ENST00000012049;ENST00000366382	T;T	0.25749	1.78;1.78	5.95	4.88	0.63580	Peptidase M28 (1);	0.272597	0.34580	N	0.003847	T	0.24198	0.0586	L	0.41236	1.265	0.58432	D	0.999999	B	0.26195	0.144	B	0.31290	0.127	T	0.02610	-1.1134	10	0.35671	T	0.21	-14.1899	13.6441	0.62270	0.0:0.7184:0.2816:0.0	.	341	Q9NXS2	QPCTL_HUMAN	V	341;247	ENSP00000012049:L341V;ENSP00000387944:L247V	ENSP00000012049:L341V	L	+	1	0	QPCTL	50898019	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.052000	0.30429	2.824000	0.97209	0.655000	0.94253	CTC		0.597	QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459656.1		NM_017659		86	125	0	0	0	0.01441	0	86	125		
CARD8	22900	broad.mit.edu	37	19	48734962	48734962	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:48734962C>T	ENST00000359009.4	-	4	494	c.182G>A	c.(181-183)gGa>gAa	p.G61E	CARD8_ENST00000520153.1_Missense_Mutation_p.G116E|CARD8_ENST00000391898.3_Missense_Mutation_p.G166E|CARD8_ENST00000519940.1_Missense_Mutation_p.G166E|CARD8_ENST00000520753.1_Missense_Mutation_p.G166E|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000447740.2_Missense_Mutation_p.G116E|CARD8_ENST00000521613.1_Missense_Mutation_p.G116E|CARD8_ENST00000520015.1_Missense_Mutation_p.G166E|ZNF114_ENST00000597695.1_Intron			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	61					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		ATCCACATTTCCTTCAGGCCC	0.363																																						uc002pie.3		NaN																	0					0						c.(181-183)GGA>GAA		caspase recruitment domain family, member 8							162.0	149.0	153.0					19																	48734962		2202	4300	6502	SO:0001583	missense	22900				negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity	g.chr19:48734962C>T	AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.182G>A	19.37:g.48734962C>T	ENSP00000351901:p.Gly61Glu					CARD8_uc002pii.3_Missense_Mutation_p.G166E|CARD8_uc010xzi.1_Missense_Mutation_p.G61E|CARD8_uc010els.2_Missense_Mutation_p.G99E|CARD8_uc010xzj.1_Missense_Mutation_p.G166E|CARD8_uc010xzk.1_Missense_Mutation_p.G85E|CARD8_uc002pif.3_Missense_Mutation_p.G61E|CARD8_uc002pig.3_5'UTR|CARD8_uc002pih.3_Missense_Mutation_p.G116E|CARD8_uc010xzl.1_Missense_Mutation_p.G116E|CARD8_uc010xzm.1_Missense_Mutation_p.G166E	p.G61E	NM_014959	NP_055774	Q9Y2G2	CARD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)	4	495	-		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)	61					B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Missense_Mutation	SNP	ENST00000359009.4	37	c.182G>A		.	.	.	.	.	.	.	.	.	.	C	14.25	2.478061	0.44044	.	.	ENSG00000105483	ENST00000447740;ENST00000391898;ENST00000359009;ENST00000520753;ENST00000520153;ENST00000520015;ENST00000521613;ENST00000519940	T;T;T;T;T;T;T;T	0.19806	2.45;2.43;2.12;2.27;2.45;2.27;2.45;2.43	1.56	1.56	0.23342	.	.	.	.	.	T	0.27559	0.0677	N	0.24115	0.695	0.24579	N	0.993887	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.998;0.998;0.998;0.998;0.999;0.999;0.998	T	0.07290	-1.0780	9	0.72032	D	0.01	.	6.5868	0.22624	0.0:1.0:0.0:0.0	.	85;166;166;99;166;116;61;61	B5KVR7;E9PEM7;B5KVR6;Q6MZI8;Q9Y2G2-3;G3XAM9;Q9Y2G2-2;Q9Y2G2	.;.;.;.;.;.;.;CARD8_HUMAN	E	116;166;61;166;116;166;116;166	ENSP00000391248:G116E;ENSP00000375767:G166E;ENSP00000351901:G61E;ENSP00000429839:G166E;ENSP00000428736:G116E;ENSP00000430747:G166E;ENSP00000427858:G116E;ENSP00000428883:G166E	ENSP00000351901:G61E	G	-	2	0	CARD8	53426774	0.012000	0.17670	0.764000	0.31436	0.018000	0.09664	1.331000	0.33793	1.175000	0.42826	0.467000	0.42956	GGA		0.363	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_014959		52	55	0	0	0	0.01441	0	52	55		
ZNF578	147660	broad.mit.edu	37	19	52994576	52994576	+	Splice_Site	SNP	G	G	C	rs61191258		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:52994576G>C	ENST00000421239.2	+	3	123		c.e3-1			NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATATTTTGTAGATATCTCTTC	0.363																																						uc002pzp.3		NaN																	0					0						c.e3-1		zinc finger protein 578																																				SO:0001630	splice_region_variant	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52994576G>C	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.-121-1G>C	19.37:g.52994576G>C								NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	3	124	+								B4DR51|I3L1Y6	Splice_Site	SNP	ENST00000421239.2	37	c.-120_splice	CCDS54310.1																																																																																				0.363	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3		NM_152472	Intron	3	2	0	0	0	0.009096	0	3	2		
FCAR	2204	broad.mit.edu	37	19	55401022	55401023	+	Missense_Mutation	DNP	CC	CC	TA			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:55401022_55401023CC>TA	ENST00000355524.3	+	5	667_668	c.657_658CC>TA	c.(655-660)atCCac>atTAac	p.H220N	FCAR_ENST00000353758.4_Missense_Mutation_p.H111N|FCAR_ENST00000391723.3_Nonsense_Mutation_p.P183*|FCAR_ENST00000391724.3_Missense_Mutation_p.H186N|FCAR_ENST00000391726.3_Missense_Mutation_p.H112N|FCAR_ENST00000359272.4_Missense_Mutation_p.H208N|FCAR_ENST00000391725.3_Missense_Mutation_p.H198N|FCAR_ENST00000345937.4_Missense_Mutation_p.H124N|CTB-61M7.2_ENST00000594721.1_lincRNA|FCAR_ENST00000482092.2_3'UTR	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	220					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CAGACTCCATCCACCAAGATTA	0.515																																						uc002qhr.1		NaN																	0				ovary(1)|skin(1)	2						c.(655-660)ATCCAC>ATTAAC		Fc alpha receptor isoform a precursor																																				SO:0001583	missense	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55401022_55401023CC>TA	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	Exception_encountered	19.37:g.55401022_55401023delinsTA	ENSP00000347714:p.His220Asn					FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Missense_Mutation_p.H171N|FCAR_uc010esi.1_Missense_Mutation_p.H97N|FCAR_uc002qhu.1_Missense_Mutation_p.H124N|FCAR_uc002qhv.1_Missense_Mutation_p.H198N|FCAR_uc002qhw.1_Missense_Mutation_p.H208N|FCAR_uc002qhx.1_Missense_Mutation_p.H112N|FCAR_uc002qhy.1_Missense_Mutation_p.H186N|FCAR_uc002qhz.1_Nonsense_Mutation_p.P183*|FCAR_uc002qia.1_Missense_Mutation_p.H111N	p.H220N	NM_002000	NP_001991	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	5	854_855	+			220			Extracellular (Potential).		Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	DNP	ENST00000355524.3	37	c.657_658CC>TA	CCDS12907.1																																																																																				0.515	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1		NM_002000		52	606	0	0	0	0.004672	0	52	606		
DNAAF3	352909	broad.mit.edu	37	19	55677318	55677318	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:55677318C>T	ENST00000524407.2	-	3	169	c.136G>A	c.(136-138)Gag>Aag	p.E46K	DNAAF3_ENST00000527223.2_Missense_Mutation_p.E114K|DNAAF3_ENST00000455045.1_5'Flank|snoU13_ENST00000459370.1_RNA|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Missense_Mutation_p.E93K			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	46					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											ACATCTAGCTCGGGGTTGCTG	0.632											OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002qji.1		NaN																	0					0						c.(136-138)GAG>AAG		RecName: Full=UPF0470 protein C19orf51;							53.0	63.0	60.0					19																	55677318		2081	4216	6297	SO:0001583	missense	352909							g.chr19:55677318C>T	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.136G>A	19.37:g.55677318C>T	ENSP00000432046:p.Glu46Lys		OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1009	C19orf51_uc002qjj.1_Missense_Mutation_p.E93K|C19orf51_uc002qjk.1_5'UTR|C19orf51_uc002qjl.1_Missense_Mutation_p.E114K	p.E46K			Q8N9W5	CS051_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	3	170	-			46					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	ENST00000524407.2	37	c.136G>A	CCDS59422.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.924138	0.73213	.	.	ENSG00000167646	ENST00000301249;ENST00000391720;ENST00000528476	T	0.20332	2.08	4.57	3.51	0.40186	.	0.248975	0.37178	N	0.002216	T	0.35335	0.0928	M	0.65975	2.015	0.80722	D	1	D;D;D	0.65815	0.995;0.974;0.987	P;P;P	0.53760	0.734;0.49;0.723	T	0.26849	-1.0091	10	0.66056	D	0.02	-15.7059	13.703	0.62620	0.0:0.8433:0.1567:0.0	.	114;67;46	E9PAX5;Q8N9W5-3;Q8N9W5	.;.;CS051_HUMAN	K	114;93;114	ENSP00000375600:E93K	ENSP00000301249:E114K	E	-	1	0	C19orf51	60369130	0.879000	0.30193	0.868000	0.34077	0.522000	0.34438	1.538000	0.36094	1.019000	0.39547	0.561000	0.74099	GAG		0.632	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5		NM_178837		34	36	0	0	0	0.005524	0	34	36		
ZNF667	63934	broad.mit.edu	37	19	56953734	56953734	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:56953734A>T	ENST00000504904.3	-	7	1349	c.630T>A	c.(628-630)aaT>aaA	p.N210K	ZNF667_ENST00000292069.6_Missense_Mutation_p.N210K|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.N338K			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	210					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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTGTTCTTTGATTGAAGCTTT	0.378																																						uc002qnd.2		NaN																	0				pancreas(1)	1						c.(628-630)AAT>AAA		zinc finger protein 667							180.0	186.0	184.0					19																	56953734		2203	4300	6503	SO:0001583	missense	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953734A>T		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.630T>A	19.37:g.56953734A>T	ENSP00000439402:p.Asn210Lys					ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Missense_Mutation_p.N210K|ZNF667_uc010etm.2_Missense_Mutation_p.N153K	p.N210K	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	5	792	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	210			C2H2-type 3.		B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	c.630T>A	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	A	2.476	-0.320720	0.05386	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000360227	T;T;T	0.14893	2.47;2.47;2.47	4.98	1.45	0.22620	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.689521	0.12731	N	0.443873	T	0.05410	0.0143	N	0.01431	-0.87	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.09377	0.004;0.003	T	0.39482	-0.9612	10	0.28530	T	0.3	-1.2196	6.0222	0.19634	0.5757:0.145:0.0:0.2794	.	338;210	E7EPS0;Q5HYK9	.;ZN667_HUMAN	K	338;210;210;84	ENSP00000344699:N338K;ENSP00000439402:N210K;ENSP00000292069:N210K	ENSP00000292069:N210K	N	-	3	2	ZNF667	61645546	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.809000	0.04510	0.336000	0.23639	0.482000	0.46254	AAT		0.378	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1		NM_022103		17	152	0	0	0	0.007413	0	17	152		
SLC27A5	10998	broad.mit.edu	37	19	59011880	59011880	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:59011880C>T	ENST00000263093.2	-	5	1485	c.1376G>A	c.(1375-1377)cGa>cAa	p.R459Q	SLC27A5_ENST00000599700.1_5'Flank|SLC27A5_ENST00000594786.1_5'Flank|SLC27A5_ENST00000601355.1_Splice_Site_p.R375Q	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	459					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CACACTCACTCGGAGGAGGCA	0.607																																						uc002qtc.2		NaN																	0					0						c.(1375-1377)CGA>CAA		solute carrier family 27 (fatty acid							86.0	75.0	79.0					19																	59011880		2203	4300	6503	SO:0001630	splice_region_variant	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59011880C>T	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1377+1G>A	19.37:g.59011880C>T						SLC27A5_uc002qtb.2_5'Flank	p.R459Q	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	5	1486	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	459			Cytoplasmic (Probable).		B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	c.1376G>A	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892573	0.33442	.	.	ENSG00000083807	ENST00000263093	T	0.41065	1.01	5.33	4.3	0.51218	AMP-dependent synthetase/ligase (1);	0.222030	0.37393	N	0.002113	T	0.38558	0.1045	M	0.66560	2.04	0.27637	N	0.947831	B	0.31519	0.327	B	0.24701	0.055	T	0.41734	-0.9492	10	0.56958	D	0.05	-1.6586	10.1523	0.42801	0.0:0.9071:0.0:0.0929	.	459	Q9Y2P5	S27A5_HUMAN	Q	459	ENSP00000263093:R459Q	ENSP00000263093:R459Q	R	-	2	0	SLC27A5	63703692	0.963000	0.33076	0.892000	0.35008	0.114000	0.19823	0.412000	0.21131	1.388000	0.46506	0.563000	0.77884	CGA		0.607	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1		NM_012254	Missense_Mutation	4	31	0	0	0	0.000602	0	4	31		
CCDC88A	55704	broad.mit.edu	37	2	55563882	55563882	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:55563882G>C	ENST00000436346.1	-	14	2432	c.1591C>G	c.(1591-1593)Cta>Gta	p.L531V	AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.L531V|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L531V|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.L531V|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	531					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						TCCTTCATTAGATCCTTGCTT	0.299																																						uc002ryv.2		NaN																	0				ovary(2)|skin(2)	4						c.(1591-1593)CTA>GTA		coiled-coil domain containing 88A isoform 1							68.0	70.0	70.0					2																	55563882		2201	4291	6492	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.chr2:55563882G>C	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.1591C>G	2.37:g.55563882G>C	ENSP00000410608:p.Leu531Val					CCDC88A_uc010yoz.1_Missense_Mutation_p.L531V|CCDC88A_uc010ypa.1_Missense_Mutation_p.L531V|CCDC88A_uc010ypb.1_Missense_Mutation_p.L433V|CCDC88A_uc002ryu.2_5'Flank|CCDC88A_uc002ryw.2_5'Flank	p.L531V	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			14	2433	-			531			Potential.		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.1591C>G		.	.	.	.	.	.	.	.	.	.	G	20.3	3.965117	0.74131	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.19	5.19	0.71726	.	0.000000	0.37577	U	0.002025	T	0.41719	0.1171	M	0.79011	2.435	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.85130	0.986;0.99;0.997	T	0.22906	-1.0203	10	0.48119	T	0.1	-5.9739	12.5472	0.56206	0.0872:0.0:0.9128:0.0	.	531;531;531	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	V	531	ENSP00000338728:L531V;ENSP00000263630:L531V;ENSP00000410608:L531V;ENSP00000404431:L531V	ENSP00000263630:L531V	L	-	1	2	CCDC88A	55417386	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.381000	0.73163	2.426000	0.82243	0.585000	0.79938	CTA		0.299	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding			NM_017571		11	90	0	0	0	0.010729	0	11	90		
KCNIP3	30818	broad.mit.edu	37	2	96048223	96048223	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:96048223C>T	ENST00000295225.5	+	7	789	c.654C>T	c.(652-654)ttC>ttT	p.F218F	KCNIP3_ENST00000360990.3_Silent_p.F196F|KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000468529.1_Silent_p.F192F	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	218	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|behavioral response to pain (GO:0048266)|intracellular protein transport (GO:0006886)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	axon terminus (GO:0043679)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|voltage-gated ion channel activity (GO:0005244)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		TGGAGAGGTTCTTCGAGGTGA	0.657																																						uc002sup.2		NaN																	0				breast(2)|ovary(1)	3						c.(652-654)TTC>TTT		Kv channel interacting protein 3 isoform 1							36.0	35.0	35.0					2																	96048223		2203	4300	6503	SO:0001819	synonymous_variant	30818				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity	g.chr2:96048223C>T	AF199599	CCDS2013.1, CCDS33245.1	2q21.1	2013-01-10	2006-02-11	2006-02-11	ENSG00000115041	ENSG00000115041		"""EF-hand domain containing"""	15523	protein-coding gene	gene with protein product		604662	"""calsenilin, presenilin-binding protein, EF hand transcription factor"""	CSEN		9771752, 10078534	Standard	NM_013434		Approved	DREAM, KCHIP3, calsenilin	uc002sup.3	Q9Y2W7	OTTHUMG00000130392	ENST00000295225.5:c.654C>T	2.37:g.96048223C>T						KCNIP3_uc002suq.2_Silent_p.F192F	p.F218F	NM_013434	NP_038462	Q9Y2W7	CSEN_HUMAN		READ - Rectum adenocarcinoma(193;0.13)	7	769	+			218			EF-hand 4.		H7BY46|Q3YAC3|Q3YAC4|Q53TJ5|Q96T40|Q9UJ84|Q9UJ85	Silent	SNP	ENST00000295225.5	37	c.654C>T	CCDS2013.1																																																																																				0.657	KCNIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252770.1		NM_013434		25	24	0	0	0	0.012213	0	25	24		
PSD4	23550	broad.mit.edu	37	2	113940993	113940993	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:113940993C>T	ENST00000245796.6	+	2	1155	c.960C>T	c.(958-960)ttC>ttT	p.F320F	PSD4_ENST00000441564.3_Silent_p.F320F	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	320					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.F320F(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCCTCCATTCCCTGTGCCCA	0.607																																						uc002tjc.2		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(958-960)TTC>TTT		pleckstrin and Sec7 domain containing 4							59.0	51.0	53.0					2																	113940993		2203	4300	6503	SO:0001819	synonymous_variant	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113940993C>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.960C>T	2.37:g.113940993C>T						PSD4_uc002tjd.2_5'UTR|PSD4_uc002tje.2_Silent_p.F319F|PSD4_uc002tjf.2_5'Flank	p.F320F	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN			2	1143	+			320					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	c.960C>T	CCDS33276.1																																																																																				0.607	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1		NM_012455		4	84	0	0	0	0.000602	0	4	84		
PLA2R1	22925	broad.mit.edu	37	2	160833209	160833209	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:160833209G>A	ENST00000283243.7	-	16	2630	c.2424C>T	c.(2422-2424)ttC>ttT	p.F808F	PLA2R1_ENST00000392771.1_Silent_p.F808F	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	808					cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ACTGGTACCAGAACGGAATCT	0.353																																						uc002ube.1		NaN																	0				skin(2)|ovary(1)	3						c.(2422-2424)TTC>TTT		phospholipase A2 receptor 1 isoform 1 precursor							88.0	81.0	84.0					2																	160833209		2203	4300	6503	SO:0001819	synonymous_variant	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160833209G>A	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2424C>T	2.37:g.160833209G>A						PLA2R1_uc010zcp.1_Silent_p.F808F|PLA2R1_uc002ubf.2_Silent_p.F808F	p.F808F	NM_007366	NP_031392	Q13018	PLA2R_HUMAN			16	2631	-			808			Extracellular (Potential).		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Silent	SNP	ENST00000283243.7	37	c.2424C>T	CCDS33309.1																																																																																				0.353	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1				6	92	0	0	0	0.006214	0	6	92		
PLA2R1	22925	broad.mit.edu	37	2	160840459	160840459	+	Silent	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:160840459G>C	ENST00000283243.7	-	13	2369	c.2163C>G	c.(2161-2163)ctC>ctG	p.L721L	PLA2R1_ENST00000392771.1_Silent_p.L721L	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	721	C-type lectin 4. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTGAATGTAAGAGCTCATTCA	0.353																																						uc002ube.1		NaN																	0				skin(2)|ovary(1)	3						c.(2161-2163)CTC>CTG		phospholipase A2 receptor 1 isoform 1 precursor							47.0	51.0	50.0					2																	160840459		2202	4300	6502	SO:0001819	synonymous_variant	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160840459G>C	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2163C>G	2.37:g.160840459G>C						PLA2R1_uc010zcp.1_Silent_p.L721L|PLA2R1_uc002ubf.2_Silent_p.L721L	p.L721L	NM_007366	NP_031392	Q13018	PLA2R_HUMAN			13	2370	-			721			Extracellular (Potential).|C-type lectin 4.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Silent	SNP	ENST00000283243.7	37	c.2163C>G	CCDS33309.1																																																																																				0.353	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1				4	63	0	0	0	0.009096	0	4	63		
SCN9A	6335	broad.mit.edu	37	2	167159806	167159806	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:167159806T>G	ENST00000409435.1	-	6	694	c.695A>C	c.(694-696)aAg>aCg	p.K232T	SCN9A_ENST00000409672.1_Missense_Mutation_p.K232T|SCN9A_ENST00000303354.6_Missense_Mutation_p.K233T|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Missense_Mutation_p.K233T			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	232					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)	TACAATTGTCTTCAGGCCTGA	0.393																																						uc010fpl.2		NaN																	0				ovary(6)|central_nervous_system(5)|skin(2)	13						c.(694-696)AAG>ACG		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						70.0	69.0	69.0					2																	167159806		2195	4299	6494	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167159806T>G	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.695A>C	2.37:g.167159806T>G	ENSP00000386330:p.Lys232Thr					SCN9A_uc002udr.1_Missense_Mutation_p.K103T|SCN9A_uc002uds.1_Missense_Mutation_p.K103T|SCN9A_uc002udt.1_Missense_Mutation_p.K103T	p.K232T	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			7	1036	-			232			I.		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.695A>C	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.870220	0.91587	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.98762	-5.12;-5.12;-5.12;-5.12;-5.12;-5.12	6.07	6.07	0.98685	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99498	0.9821	H	0.97516	4.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.985	D	0.98117	1.0423	10	0.87932	D	0	.	16.635	0.85050	0.0:0.0:0.0:1.0	.	232;232;233	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	T	232;233;233;232;97;97	ENSP00000386306:K232T;ENSP00000364536:K233T;ENSP00000304748:K233T;ENSP00000386330:K232T;ENSP00000413212:K97T;ENSP00000393141:K97T	ENSP00000304748:K233T	K	-	2	0	SCN9A	166868052	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	8.040000	0.89188	2.330000	0.79161	0.477000	0.44152	AAG		0.393	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1		NM_002977		32	34	0	0	0	0.004289	0	32	34		
NOSTRIN	115677	broad.mit.edu	37	2	169681198	169681198	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:169681198G>A	ENST00000317647.7	+	3	397	c.168G>A	c.(166-168)ctG>ctA	p.L56L	NOSTRIN_ENST00000444448.2_Silent_p.L56L|NOSTRIN_ENST00000445023.2_5'UTR|NOSTRIN_ENST00000397209.2_Intron|NOSTRIN_ENST00000458381.2_Silent_p.L56L|NOSTRIN_ENST00000397206.2_5'UTR|NOSTRIN_ENST00000421711.2_Intron	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	56	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CAAGCAAGCTGAGCAAAGCAT	0.393																																						uc002ueg.2		NaN																	0					0						c.(166-168)CTG>CTA		nitric oxide synthase trafficker isoform 2							91.0	89.0	90.0					2																	169681198		1894	4136	6030	SO:0001819	synonymous_variant	115677				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding	g.chr2:169681198G>A	AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072			20203	protein-coding gene	gene with protein product		607496	"""nitric oxide synthase trafficker"""			12446846	Standard	NM_001171631		Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000317647.7:c.168G>A	2.37:g.169681198G>A						NOSTRIN_uc002uef.2_Silent_p.L56L|NOSTRIN_uc002uei.2_5'UTR|NOSTRIN_uc010fpu.2_Intron|NOSTRIN_uc002ueh.2_5'UTR|NOSTRIN_uc002uej.2_5'UTR	p.L56L	NM_001039724	NP_001034813	Q8IVI9	NOSTN_HUMAN			3	172	+			56			FCH.		A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Silent	SNP	ENST00000317647.7	37	c.168G>A	CCDS42771.1																																																																																				0.393	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333356.4		NM_052946		8	88	0	0	0	0.006214	0	8	88		
DFNB59	494513	broad.mit.edu	37	2	179319144	179319144	+	Silent	SNP	C	C	T	rs375853744		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:179319144C>T	ENST00000409117.3	+	3	653	c.297C>T	c.(295-297)gaC>gaT	p.D99D	PRKRA_ENST00000470200.1_5'Flank|DFNB59_ENST00000375129.4_Silent_p.D99D	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	99					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TTGTAAATGACGTTGGGATTA	0.338																																						uc002umi.3		NaN																	0					0						c.(295-297)GAC>GAT		deafness, autosomal recessive 59		C		1,3781		0,1,1890	101.0	99.0	100.0		297	-8.5	0.5	2		100	0,8230		0,0,4115	no	coding-synonymous	DFNB59	NM_001042702.3		0,1,6005	TT,TC,CC		0.0,0.0264,0.0083		99/353	179319144	1,12011	1891	4115	6006	SO:0001819	synonymous_variant	494513				sensory perception of sound			g.chr2:179319144C>T	BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.297C>T	2.37:g.179319144C>T						DFNB59_uc002umj.3_Silent_p.D99D	p.D99D	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		3	653	+			99					A0PK14|B9EJE2	Silent	SNP	ENST00000409117.3	37	c.297C>T	CCDS42787.1	.	.	.	.	.	.	.	.	.	.	C	7.945	0.743717	0.15642	2.64E-4	0.0	ENSG00000204311	ENST00000442710	.	.	.	5.67	-8.48	0.00935	.	.	.	.	.	T	0.71392	0.3334	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75590	-0.3265	4	.	.	.	0.6084	20.7621	0.99720	0.0:0.1425:0.0:0.8575	.	.	.	.	C	47	.	.	R	+	1	0	DFNB59	179027390	0.000000	0.05858	0.501000	0.27601	0.984000	0.73092	-3.059000	0.00624	-1.844000	0.01178	-0.345000	0.07892	CGT		0.338	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1				6	119	0	0	0	0.00308	0	6	119		
TTN	7273	broad.mit.edu	37	2	179438342	179438342	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:179438342C>G	ENST00000591111.1	-	276	67818	c.67594G>C	c.(67594-67596)Gta>Cta	p.V22532L	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V15300L|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V15108L|TTN_ENST00000359218.5_Missense_Mutation_p.V15233L|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V24173L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V21605L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22532	Fibronectin type-III 63. {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)			TCTGAGGCTACATTTGTCCAT	0.413																																						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.(64813-64815)GTA>CTA		titin isoform N2-A							287.0	285.0	286.0					2																	179438342		1939	4134	6073	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438342C>G	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.67594G>C	2.37:g.179438342C>G	ENSP00000465570:p.Val22532Leu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V15300L|TTN_uc010zfi.1_Missense_Mutation_p.V15233L|TTN_uc010zfj.1_Missense_Mutation_p.V15108L	p.V21605L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	65037	-			22532					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.64813G>C		.	.	.	.	.	.	.	.	.	.	C	15.29	2.788270	0.49997	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	6.08	6.08	0.98989	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71879	0.3392	L	0.60067	1.865	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.71401	-0.4604	9	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	15108;15233;15300;22532	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	21605;15108;15300;15233;15106	ENSP00000343764:V21605L;ENSP00000434586:V15108L;ENSP00000340554:V15300L;ENSP00000352154:V15233L	ENSP00000340554:V15300L	V	-	1	0	TTN	179146588	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	GTA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		11	398	0	0	0	0.001855	0	11	398		
TTN	7273	broad.mit.edu	37	2	179588019	179588019	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:179588019G>T	ENST00000591111.1	-	73	20988	c.20764C>A	c.(20764-20766)Cat>Aat	p.H6922N	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.H7239N|TTN_ENST00000342992.6_Missense_Mutation_p.H5995N|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12510	Ig-like 51.				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)			TCTACAGAATGATCACTTAAT	0.388																																						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.(17983-17985)CAT>AAT		titin isoform N2-A							91.0	86.0	88.0					2																	179588019		1879	4114	5993	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179588019G>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.20764C>A	2.37:g.179588019G>T	ENSP00000465570:p.His6922Asn					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.H2656N	p.H5995N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		72	18207	-			6922					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.17983C>A		.	.	.	.	.	.	.	.	.	.	G	8.147	0.786454	0.16189	.	.	ENSG00000155657	ENST00000342992	T	0.66638	-0.22	6.06	5.19	0.71726	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58878	0.2153	L	0.43923	1.385	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.58081	-0.7699	9	0.87932	D	0	.	11.5868	0.50923	0.1362:0.0:0.8638:0.0	.	6922	Q8WZ42	TITIN_HUMAN	N	5995	ENSP00000343764:H5995N	ENSP00000343764:H5995N	H	-	1	0	TTN	179296264	0.774000	0.28592	0.990000	0.47175	0.989000	0.77384	1.758000	0.38410	1.574000	0.49760	0.650000	0.86243	CAT		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		14	36	1	0	9.16793e-09	0.00499	9.5738e-09	14	36		
TTN	7273	broad.mit.edu	37	2	179612864	179612864	+	Intron	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:179612864G>C	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.L4755V|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			CCATTTTCTAGAGGACAACTT	0.388																																						uc002unb.2		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.(14263-14265)CTA>GTA		titin isoform novex-3							69.0	70.0	69.0					2																	179612864		2202	4296	6498	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179612864G>C	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.10360+4986C>G	2.37:g.179612864G>C						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.L4755V	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	14487	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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.14263C>G		.	.	.	.	.	.	.	.	.	.	G	11.68	1.709827	0.30322	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.59638	0.25	5.69	3.74	0.42951	.	.	.	.	.	T	0.35508	0.0934	N	0.12182	0.205	0.09310	N	0.999999	B	0.06786	0.001	B	0.11329	0.006	T	0.20773	-1.0265	9	0.25751	T	0.34	.	6.4837	0.22077	0.1677:0.2839:0.5484:0.0	.	4755	Q8WZ42-6	.	V	4755;69	ENSP00000354117:L4755V	ENSP00000304714:L69V	L	-	1	2	TTN	179321109	0.075000	0.21258	0.249000	0.24280	0.366000	0.29705	1.247000	0.32815	0.628000	0.30357	0.650000	0.86243	CTA		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		17	28	0	0	0	0.00333	0	17	28		
MFSD6	54842	broad.mit.edu	37	2	191362263	191362263	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:191362263C>G	ENST00000392328.1	+	7	2314	c.1990C>G	c.(1990-1992)Cgc>Ggc	p.R664G	MFSD6_ENST00000535751.1_Missense_Mutation_p.R126G|MFSD6_ENST00000281416.7_Missense_Mutation_p.R664G	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	664					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TGTCATGCCACGCATTGAGCC	0.502																																						uc002urz.2		NaN																	0				ovary(2)	2						c.(1990-1992)CGC>GGC		major facilitator superfamily domain containing							168.0	144.0	152.0					2																	191362263		2203	4300	6503	SO:0001583	missense	54842				transmembrane transport	integral to membrane		g.chr2:191362263C>G		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.1990C>G	2.37:g.191362263C>G	ENSP00000376141:p.Arg664Gly					MFSD6_uc010zge.1_Missense_Mutation_p.R126G	p.R664G	NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN			7	2314	+			664					D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	c.1990C>G	CCDS2306.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.47|16.47	3.132833|3.132833	0.56828|0.56828	.|.	.|.	ENSG00000151690|ENSG00000151690	ENST00000392328;ENST00000281416;ENST00000444317;ENST00000535751|ENST00000434582	T;T|.	0.35789|.	1.29;1.29|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.225478|.	0.46758|.	D|.	0.000276|.	T|T	0.60881|0.60881	0.2303|0.2303	L|L	0.44542|0.44542	1.39|1.39	0.38690|0.38690	D|D	0.95273|0.95273	P|.	0.45902|.	0.868|.	P|.	0.47075|.	0.536|.	T|T	0.59653|0.59653	-0.7414|-0.7414	10|5	0.36615|.	T|.	0.2|.	-10.8169|-10.8169	14.5178|14.5178	0.67830|0.67830	0.0:0.8539:0.1461:0.0|0.0:0.8539:0.1461:0.0	.|.	664|.	Q6ZSS7|.	MFSD6_HUMAN|.	G|R	664;664;126;126|199	ENSP00000376141:R664G;ENSP00000281416:R664G|.	ENSP00000281416:R664G|.	R|T	+|+	1|2	0|0	MFSD6|MFSD6	191070508|191070508	0.992000|0.992000	0.36948|0.36948	0.990000|0.990000	0.47175|0.47175	0.992000|0.992000	0.81027|0.81027	1.900000|1.900000	0.39828|0.39828	2.720000|2.720000	0.93068|0.93068	0.650000|0.650000	0.86243|0.86243	CGC|ACG		0.502	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1				12	145	0	0	0	0.003163	0	12	145		
SDPR	8436	broad.mit.edu	37	2	192701216	192701216	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:192701216C>G	ENST00000304141.4	-	2	1040	c.711G>C	c.(709-711)aaG>aaC	p.K237N		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			TATCCACTTTCTTCAGGCTGG	0.463																																						uc002utb.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(709-711)AAG>AAC		serum deprivation response protein	Phosphatidylserine(DB00144)						197.0	205.0	203.0					2																	192701216		2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192701216C>G	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.711G>C	2.37:g.192701216C>G	ENSP00000305675:p.Lys237Asn						p.K237N	NM_004657	NP_004648	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		2	1041	-			237			Potential.			Missense_Mutation	SNP	ENST00000304141.4	37	c.711G>C	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310600	0.60414	.	.	ENSG00000168497	ENST00000304141	T	0.62941	-0.01	5.01	3.16	0.36331	.	0.192981	0.45126	D	0.000392	T	0.60444	0.2269	M	0.62723	1.935	0.48236	D	0.999612	P	0.49783	0.928	P	0.46758	0.526	T	0.60934	-0.7164	10	0.72032	D	0.01	-6.9607	6.8773	0.24153	0.0:0.7029:0.1448:0.1523	.	237	O95810	SDPR_HUMAN	N	237	ENSP00000305675:K237N	ENSP00000305675:K237N	K	-	3	2	SDPR	192409461	1.000000	0.71417	0.948000	0.38648	0.709000	0.40893	1.657000	0.37366	0.673000	0.31224	0.563000	0.77884	AAG		0.463	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2		NM_004657		18	226	0	0	0	0.006122	0	18	226		
HSPD1	3329	broad.mit.edu	37	2	198358053	198358053	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:198358053C>G	ENST00000388968.3	-	7	1131	c.864G>C	c.(862-864)ttG>ttC	p.L288F	HSPD1_ENST00000345042.2_Missense_Mutation_p.L288F	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	288					'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)			ATTACCTATTCAAGACGAGTG	0.393																																						uc002uui.2		NaN																	0					0						c.(862-864)TTG>TTC		chaperonin							136.0	138.0	137.0					2																	198358053		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.chr2:198358053C>G	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.864G>C	2.37:g.198358053C>G	ENSP00000373620:p.Leu288Phe					HSPD1_uc002uuj.2_Missense_Mutation_p.L286F|HSPD1_uc010zgx.1_Missense_Mutation_p.L279F|HSPD1_uc010fsm.2_Missense_Mutation_p.L99F|HSPD1_uc002uuk.2_Missense_Mutation_p.L288F	p.L288F	NM_002156	NP_002147	P10809	CH60_HUMAN	Epithelial(96;0.225)		7	1001	-			288					B2R5M6|B7Z712|Q38L19|Q9UCR6	Missense_Mutation	SNP	ENST00000388968.3	37	c.864G>C	CCDS33357.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490923	0.64074	.	.	ENSG00000144381	ENST00000388968;ENST00000345042;ENST00000536745	T;T	0.79352	-1.26;-1.26	5.09	0.986	0.19784	.	0.000000	0.64402	D	0.000001	D	0.86468	0.5940	M	0.89214	3.015	0.80722	D	1	D;D;D	0.89917	0.992;0.992;1.0	D;D;D	0.91635	0.958;0.958;0.999	D	0.83663	0.0162	10	0.72032	D	0.01	-1.2661	5.7943	0.18377	0.0:0.4318:0.1335:0.4347	.	279;288;288	B7Z597;B3GQS7;P10809	.;.;CH60_HUMAN	F	288;288;144	ENSP00000373620:L288F;ENSP00000340019:L288F	ENSP00000340019:L288F	L	-	3	2	HSPD1	198066298	0.993000	0.37304	1.000000	0.80357	0.924000	0.55760	0.251000	0.18257	0.268000	0.21939	0.585000	0.79938	TTG		0.393	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2		NM_002156		13	184	0	0	0	0.00499	0	13	184		
NOP58	51602	broad.mit.edu	37	2	203164980	203164980	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:203164980C>G	ENST00000264279.5	+	13	1518	c.1292C>G	c.(1291-1293)tCt>tGt	p.S431C		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	431					cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						TACGATCCTTCTGGTGACTCC	0.333																																						uc002uzb.2		NaN																	0					0						c.(1291-1293)TCT>TGT		NOP58 ribonucleoprotein homolog							86.0	89.0	88.0					2																	203164980		2203	4299	6502	SO:0001583	missense	51602				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding	g.chr2:203164980C>G		CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"""NOP58 ribonucleoprotein homolog (yeast)"""			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.1292C>G	2.37:g.203164980C>G	ENSP00000264279:p.Ser431Cys						p.S431C	NM_015934	NP_057018	Q9Y2X3	NOP58_HUMAN			13	1442	+			431					Q53SA4|Q6PK08|Q9P036|Q9UFN3	Missense_Mutation	SNP	ENST00000264279.5	37	c.1292C>G	CCDS2353.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976875	0.92982	.	.	ENSG00000055044	ENST00000264279	T	0.62105	0.05	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.75561	0.3866	L	0.57536	1.79	0.80722	D	1	D	0.69078	0.997	P	0.61800	0.894	T	0.76258	-0.3025	10	0.72032	D	0.01	-19.0521	19.2604	0.93966	0.0:1.0:0.0:0.0	.	431	Q9Y2X3	NOP58_HUMAN	C	431	ENSP00000264279:S431C	ENSP00000264279:S431C	S	+	2	0	NOP58	202873225	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.154000	0.77437	2.793000	0.96121	0.563000	0.77884	TCT		0.333	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2		NM_015934		11	89	0	0	0	0.010729	0	11	89		
PLEKHM3	389072	broad.mit.edu	37	2	208795681	208795681	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:208795681G>A	ENST00000427836.2	-	5	2344	c.1855C>T	c.(1855-1857)Cgg>Tgg	p.R619W	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.R619W|PLEKHM3_ENST00000457206.1_Missense_Mutation_p.R619W	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	619					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCGCTGCCCGGCAGCTGAAC	0.622																																						uc002vcl.2		NaN																	0				ovary(1)	1						c.(1855-1857)CGG>TGG		pleckstrin homology domain containing, family M,							44.0	50.0	48.0					2																	208795681		1942	4142	6084	SO:0001583	missense	389072				intracellular signal transduction		metal ion binding	g.chr2:208795681G>A	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1855C>T	2.37:g.208795681G>A	ENSP00000417003:p.Arg619Trp					PLEKHM3_uc002vcm.2_Missense_Mutation_p.R619W	p.R619W	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN			5	2345	-			619					B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	c.1855C>T	CCDS42808.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.37|16.37	3.103894|3.103894	0.56291|0.56291	.|.	.|.	ENSG00000178385|ENSG00000178385	ENST00000447645|ENST00000427836;ENST00000389247;ENST00000457206	.|D;D;D	.|0.86627	.|-2.04;-2.04;-2.15	5.79|5.79	4.91|4.91	0.64330|0.64330	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94581|0.94581	0.8254|0.8254	M|M	0.91459|0.91459	3.21|3.21	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.996	D|D	0.95507|0.95507	0.8582|0.8582	5|10	.|0.87932	.|D	.|0	.|.	14.3336|14.3336	0.66574|0.66574	0.0:0.0:0.6792:0.3208|0.0:0.0:0.6792:0.3208	.|.	.|619;619	.|C9J119;Q6ZWE6	.|.;PKHM3_HUMAN	L|W	370|619	.|ENSP00000417003:R619W;ENSP00000373899:R619W;ENSP00000400150:R619W	.|ENSP00000373899:R619W	P|R	-|-	2|1	0|2	PLEKHM3|PLEKHM3	208503926|208503926	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.134000|0.134000	0.20937|0.20937	2.282000|2.282000	0.43461|0.43461	1.427000|1.427000	0.47276|0.47276	0.460000|0.460000	0.39030|0.39030	CCG|CGG		0.622	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1		NM_001080475		5	99	0	0	0	0.001168	0	5	99		
ZNF142	7701	broad.mit.edu	37	2	219508869	219508869	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:219508869C>T	ENST00000449707.1	-	8	2791	c.2370G>A	c.(2368-2370)gaG>gaA	p.E790E	ZNF142_ENST00000411696.2_Silent_p.E790E	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	790					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(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGGTGCTGTCTCAGCAGGTG	0.532																																					Colon(170;867 1942 8995 15834 18053)	uc002vin.2		NaN																	0				breast(2)|ovary(1)|skin(1)	4						c.(2368-2370)GAG>GAA		zinc finger protein 142							152.0	156.0	155.0					2																	219508869		2073	4217	6290	SO:0001819	synonymous_variant	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219508869C>T	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.2370G>A	2.37:g.219508869C>T						ZNF142_uc002vil.2_Silent_p.E751E|ZNF142_uc010fvt.2_Silent_p.E627E|ZNF142_uc002vim.2_Silent_p.E627E	p.E790E	NM_001105537	NP_001099007	P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	2806	-		Renal(207;0.0474)	790					Q92510	Silent	SNP	ENST00000449707.1	37	c.2370G>A	CCDS42817.1																																																																																				0.532	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1		NM_005081		6	198	0	0	0	0.008291	0	6	198		
CYP27A1	1593	broad.mit.edu	37	2	219679356	219679356	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:219679356G>C	ENST00000258415.4	+	8	1779	c.1352G>C	c.(1351-1353)aGa>aCa	p.R451T		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	451					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	CGCTGGCTGAGAAACAGCCAG	0.607																																						uc002viz.3		NaN																	0				ovary(1)	1						c.(1351-1353)AGA>ACA		cytochrome P450, family 27, subfamily A,	Cholecalciferol(DB00169)						33.0	41.0	38.0					2																	219679356		2201	4294	6495	SO:0001583	missense	1593				bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	g.chr2:219679356G>C	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.1352G>C	2.37:g.219679356G>C	ENSP00000258415:p.Arg451Thr						p.R451T	NM_000784	NP_000775	Q02318	CP27A_HUMAN		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	8	1786	+		Renal(207;0.0474)	451					A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	ENST00000258415.4	37	c.1352G>C	CCDS2423.1	.	.	.	.	.	.	.	.	.	.	g	15.10	2.733971	0.48939	.	.	ENSG00000135929	ENST00000258415	T	0.68479	-0.33	5.23	3.44	0.39384	.	0.165435	0.53938	D	0.000050	T	0.72590	0.3479	L	0.45581	1.43	0.32189	N	0.579335	D	0.57571	0.98	P	0.62740	0.906	T	0.77148	-0.2694	10	0.66056	D	0.02	-22.0453	11.1047	0.48197	0.1504:0.0:0.8496:0.0	.	451	Q02318	CP27A_HUMAN	T	451	ENSP00000258415:R451T	ENSP00000258415:R451T	R	+	2	0	CYP27A1	219387600	0.997000	0.39634	0.983000	0.44433	0.276000	0.26787	1.427000	0.34881	0.590000	0.29694	-0.215000	0.12644	AGA		0.607	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4				6	60	0	0	0	0.001984	0	6	60		
ANKZF1	55139	broad.mit.edu	37	2	220100580	220100580	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:220100580C>T	ENST00000323348.5	+	12	2128	c.1954C>T	c.(1954-1956)Ctc>Ttc	p.L652F	GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000409849.1_Missense_Mutation_p.L442F|ANKZF1_ENST00000410034.3_Missense_Mutation_p.L652F	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	652						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATTTGCCGCCCTCAGTGACCG	0.622																																						uc002vkg.2		NaN																	0				ovary(2)	2						c.(1954-1956)CTC>TTC		ankyrin repeat and zinc finger domain containing							109.0	123.0	118.0					2																	220100580		2166	4256	6422	SO:0001583	missense	55139					intracellular	zinc ion binding	g.chr2:220100580C>T	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1954C>T	2.37:g.220100580C>T	ENSP00000321617:p.Leu652Phe					ANKZF1_uc002vkh.2_Missense_Mutation_p.L442F|ANKZF1_uc002vki.2_Missense_Mutation_p.L652F	p.L652F	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	12	2128	+		Renal(207;0.0474)	652			Potential.		Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	c.1954C>T	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759412	0.69763	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	D;D;D	0.95272	-3.66;-3.66;-3.66	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.97545	0.9196	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97510	1.0066	10	0.56958	D	0.05	-14.035	19.3333	0.94303	0.0:1.0:0.0:0.0	.	652	Q9H8Y5	ANKZ1_HUMAN	F	652;442;652	ENSP00000321617:L652F;ENSP00000386815:L442F;ENSP00000386337:L652F	ENSP00000321617:L652F	L	+	1	0	ANKZF1	219808824	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	6.955000	0.76007	2.793000	0.96121	0.655000	0.94253	CTC		0.622	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1		NM_018089		46	93	0	0	0	0.01441	0	46	93		
ZCCHC3	85364	broad.mit.edu	37	20	279194	279194	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr20:279194G>A	ENST00000382352.3	+	1	1458	c.967G>A	c.(967-969)Gag>Aag	p.E323K		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	323							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CCTGGGGGCCGAGAGGGGCTA	0.632																																						uc002wdf.2		NaN																	0					0						c.(964-966)GAG>AAG		zinc finger, CCHC domain containing 3							41.0	48.0	45.0					20																	279194		1927	4124	6051	SO:0001583	missense	85364						nucleic acid binding|zinc ion binding	g.chr20:279194G>A	AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"""Zinc fingers, CCHC domain containing"""	16230	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 99"""	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.967G>A	20.37:g.279194G>A	ENSP00000371789:p.Glu323Lys					ZCCHC3_uc002wdg.2_RNA	p.E322K	NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		2	988	+		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	323					Q3B7J3|Q6NT79	Missense_Mutation	SNP	ENST00000382352.3	37	c.964G>A	CCDS42844.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104372	0.76983	.	.	ENSG00000177764	ENST00000382352	.	.	.	5.2	5.2	0.72013	.	0.159135	0.40385	N	0.001114	T	0.66809	0.2827	L	0.42245	1.32	0.43000	D	0.994517	D	0.76494	0.999	P	0.61533	0.89	T	0.67818	-0.5572	9	0.54805	T	0.06	-31.9327	16.2826	0.82703	0.0:0.0:1.0:0.0	.	323	Q9NUD5	ZCHC3_HUMAN	K	323	.	ENSP00000371789:E323K	E	+	1	0	ZCCHC3	227194	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.977000	0.49297	2.707000	0.92482	0.555000	0.69702	GAG		0.632	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1				43	64	0	0	0	0.00874	0	43	64		
ZCCHC3	85364	broad.mit.edu	37	20	279302	279302	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr20:279302G>A	ENST00000382352.3	+	1	1566	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	359							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGGTGCGGGGAGGAGGGGCA	0.607																																						uc002wdf.2		NaN																	0					0						c.(1072-1074)GAG>AAG		zinc finger, CCHC domain containing 3							50.0	58.0	55.0					20																	279302		2047	4181	6228	SO:0001583	missense	85364						nucleic acid binding|zinc ion binding	g.chr20:279302G>A	AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"""Zinc fingers, CCHC domain containing"""	16230	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 99"""	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.1075G>A	20.37:g.279302G>A	ENSP00000371789:p.Glu359Lys					ZCCHC3_uc002wdg.2_RNA	p.E358K	NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		2	1096	+		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	359			CCHC-type 2.		Q3B7J3|Q6NT79	Missense_Mutation	SNP	ENST00000382352.3	37	c.1072G>A	CCDS42844.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459515	0.63401	.	.	ENSG00000177764	ENST00000382352	.	.	.	5.02	5.02	0.67125	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.166036	0.39475	N	0.001349	T	0.62368	0.2422	N	0.25245	0.725	0.41641	D	0.989075	D	0.76494	0.999	D	0.87578	0.998	T	0.56685	-0.7938	9	0.21540	T	0.41	-28.7192	16.2198	0.82251	0.0:0.0:1.0:0.0	.	359	Q9NUD5	ZCHC3_HUMAN	K	359	.	ENSP00000371789:E359K	E	+	1	0	ZCCHC3	227302	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.162000	0.42367	2.767000	0.95098	0.555000	0.69702	GAG		0.607	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1				54	77	0	0	0	0.01441	0	54	77		
CD93	22918	broad.mit.edu	37	20	23065965	23065965	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr20:23065965G>T	ENST00000246006.4	-	1	1012	c.865C>A	c.(865-867)Cca>Aca	p.P289T		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	289	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGGAATCCTGGTCGGCAGCCG	0.637																																						uc002wsv.2		NaN																	0				large_intestine(2)	2						c.(865-867)CCA>ACA		CD93 antigen precursor							70.0	79.0	76.0					20																	23065965		2202	4300	6502	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065965G>T	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.865C>A	20.37:g.23065965G>T	ENSP00000246006:p.Pro289Thr						p.P289T	NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN			1	1013	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		289			EGF-like 1.|Extracellular (Potential).		O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.865C>A	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083051	0.55861	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	D	0.88354	-2.37	5.51	5.51	0.81932	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.000000	0.64402	D	0.000012	D	0.91405	0.7288	L	0.51853	1.615	0.36443	D	0.865606	D	0.76494	0.999	D	0.63488	0.915	D	0.91795	0.5447	10	0.36615	T	0.2	-31.2469	14.0355	0.64642	0.0:0.1513:0.8487:0.0	.	289	Q9NPY3	C1QR1_HUMAN	T	289	ENSP00000246006:P289T	ENSP00000246006:P289T	P	-	1	0	CD93	23013965	0.979000	0.34478	0.952000	0.39060	0.516000	0.34256	1.995000	0.40767	2.743000	0.94032	0.650000	0.86243	CCA		0.637	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2		NM_012072		18	258	1	0	8.34094e-07	0.008871	8.57619e-07	18	258		
MYLK2	85366	broad.mit.edu	37	20	30412081	30412081	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr20:30412081T>A	ENST00000375994.2	+	5	1171	c.898T>A	c.(898-900)Tgt>Agt	p.C300S	MYLK2_ENST00000375985.4_Missense_Mutation_p.C300S			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	300	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGGGGCAGTCTGTACCTGCAT	0.562																																						uc002wwq.2		NaN																	0				lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6						c.(898-900)TGT>AGT		skeletal myosin light chain kinase							79.0	59.0	66.0					20																	30412081		2203	4300	6503	SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30412081T>A	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.898T>A	20.37:g.30412081T>A	ENSP00000365162:p.Cys300Ser					MYLK2_uc002wws.2_5'Flank	p.C300S	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		6	1000	+			300			Protein kinase.		Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.898T>A	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.981626	0.53827	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.38722	1.12;1.12	3.55	3.55	0.40652	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.26122	0.0637	N	0.12502	0.225	0.37401	D	0.912829	B	0.29301	0.241	B	0.34346	0.18	T	0.21211	-1.0252	9	0.41790	T	0.15	.	8.6778	0.34189	0.0:0.0:0.0:1.0	.	300	Q9H1R3	MYLK2_HUMAN	S	300	ENSP00000365162:C300S;ENSP00000365152:C300S	ENSP00000365152:C300S	C	+	1	0	MYLK2	29875742	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.383000	0.59600	1.588000	0.49971	0.459000	0.35465	TGT		0.562	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2		NM_033118		23	41	0	0	0	0.007291	0	23	41		
EMILIN3	90187	broad.mit.edu	37	20	39990291	39990291	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr20:39990291G>C	ENST00000332312.3	-	4	2110	c.1918C>G	c.(1918-1920)Caa>Gaa	p.Q640E		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	640						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CTGGAGCCTTGGCTGCTGACC	0.632																																						uc002xjy.1		NaN																	0				ovary(1)	1						c.(1918-1920)CAA>GAA		elastin microfibril interfacer 3							27.0	28.0	28.0					20																	39990291		2203	4300	6503	SO:0001583	missense	90187					proteinaceous extracellular matrix		g.chr20:39990291G>C	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.1918C>G	20.37:g.39990291G>C	ENSP00000332806:p.Gln640Glu						p.Q640E	NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN			4	2142	-		Myeloproliferative disorder(115;0.00425)	640			Potential.		Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	ENST00000332312.3	37	c.1918C>G	CCDS13316.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829475	0.71258	.	.	ENSG00000183798	ENST00000332312	T	0.78003	-1.14	4.86	4.86	0.63082	.	0.811355	0.11402	N	0.567707	T	0.81945	0.4930	L	0.61218	1.895	0.49299	D	0.999775	D	0.55605	0.972	P	0.49085	0.6	T	0.80674	-0.1277	9	.	.	.	-1.3528	17.9844	0.89152	0.0:0.0:1.0:0.0	.	640	Q9NT22	EMIL3_HUMAN	E	640	ENSP00000332806:Q640E	.	Q	-	1	0	EMILIN3	39423705	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.171000	0.94802	2.231000	0.72958	0.561000	0.74099	CAA		0.632	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2		XM_029741		3	34	0	0	0	0.009096	0	3	34		
LAMA5	3911	broad.mit.edu	37	20	60909254	60909254	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr20:60909254C>T	ENST00000252999.3	-	22	2793	c.2727G>A	c.(2725-2727)atG>atA	p.M909I	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	909	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGACAGGTGCCATCTGCGCGT	0.672																																						uc002ycq.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2725-2727)ATG>ATA		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						34.0	37.0	36.0					20																	60909254		2203	4299	6502	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60909254C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.2727G>A	20.37:g.60909254C>T	ENSP00000252999:p.Met909Ile						p.M909I	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		22	2794	-	Breast(26;1.57e-08)		909			Domain IV 1 (domain IV B).		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.2727G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	16.81	3.226172	0.58668	.	.	ENSG00000130702	ENST00000252999	T	0.19394	2.15	4.24	4.24	0.50183	.	0.000000	0.85682	U	0.000000	T	0.48059	0.1479	M	0.78456	2.415	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.55159	-0.8184	10	0.59425	D	0.04	.	16.9652	0.86283	0.0:1.0:0.0:0.0	.	909	O15230	LAMA5_HUMAN	I	909	ENSP00000252999:M909I	ENSP00000252999:M909I	M	-	3	0	LAMA5	60342649	1.000000	0.71417	0.366000	0.25914	0.084000	0.17831	7.500000	0.81588	2.049000	0.60858	0.543000	0.68304	ATG		0.672	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2		NM_005560		32	21	0	0	0	0.007835	0	32	21		
DIDO1	11083	broad.mit.edu	37	20	61512799	61512799	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr20:61512799C>T	ENST00000266070.4	-	16	4834	c.4509G>A	c.(4507-4509)caG>caA	p.Q1503Q	DIDO1_ENST00000395343.1_Silent_p.Q1503Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1503					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)					CGGCGGCCCTCTGCTGCCTGA	0.587																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NaN																	0				ovary(3)|skin(3)	6						c.(4507-4509)CAG>CAA		death inducer-obliterator 1 isoform c							92.0	91.0	91.0					20																	61512799		2203	4300	6503	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512799C>T	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.4509G>A	20.37:g.61512799C>T						DIDO1_uc002yds.1_Silent_p.Q1503Q	p.Q1503Q	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	4773	-	Breast(26;5.68e-08)		1503					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.4509G>A	CCDS33506.1																																																																																				0.587	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2		NM_080796		67	142	0	0	0	0.01441	0	67	142		
KCNQ2	3785	broad.mit.edu	37	20	62038153	62038153	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr20:62038153G>C	ENST00000359125.2	-	17	2637	c.2463C>G	c.(2461-2463)taC>taG	p.Y821*	KCNQ2_ENST00000354587.3_Nonsense_Mutation_p.Y829*|KCNQ2_ENST00000344462.4_Nonsense_Mutation_p.Y790*|KCNQ2_ENST00000359689.1_Nonsense_Mutation_p.Y821*|KCNQ2_ENST00000370224.1_Nonsense_Mutation_p.Y829*|KCNQ2_ENST00000357249.2_Nonsense_Mutation_p.Y803*|KCNQ2_ENST00000360480.3_Nonsense_Mutation_p.Y793*	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	821					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CCACGGCCGCGTAGCAGCTGT	0.642																																						uc002yey.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2461-2463)TAC>TAG		potassium voltage-gated channel KQT-like protein	Amitriptyline(DB00321)						66.0	46.0	53.0					20																	62038153		2199	4299	6498	SO:0001587	stop_gained	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62038153G>C	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.2463C>G	20.37:g.62038153G>C	ENSP00000352035:p.Tyr821*					KCNQ2_uc002yez.1_Nonsense_Mutation_p.Y790*|KCNQ2_uc002yfa.1_Nonsense_Mutation_p.Y803*|KCNQ2_uc002yfb.1_Nonsense_Mutation_p.Y793*	p.Y821*	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		17	2640	-	all_cancers(38;1.24e-11)		821			Cytoplasmic (Potential).		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Nonsense_Mutation	SNP	ENST00000359125.2	37	c.2463C>G	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	G	38	6.940816	0.97952	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224	.	.	.	4.95	-4.5	0.03493	.	0.151653	0.45606	D	0.000353	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1978	14.0222	0.64563	0.7871:0.0:0.2129:0.0	.	.	.	.	X	803;821;791;829;821;790;793;817;829	.	ENSP00000339611:Y817X	Y	-	3	2	KCNQ2	61508597	0.001000	0.12720	0.885000	0.34714	0.941000	0.58515	-0.701000	0.05075	-0.726000	0.04895	0.491000	0.48974	TAC		0.642	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1		NM_172109		15	10	0	0	0	0.010504	0	15	10		
EEF1A2	1917	broad.mit.edu	37	20	62120282	62120282	+	Missense_Mutation	SNP	T	T	G	rs200931909		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr20:62120282T>G	ENST00000298049.7	-	6	1323	c.1253A>C	c.(1252-1254)tAc>tCc	p.Y418S	EEF1A2_ENST00000217182.3_Missense_Mutation_p.Y418S			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	418					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)	p.Y418S(1)		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)			GAGAGGCGGGTACTGGGAGAA	0.667																																						uc002yfd.1		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(1252-1254)TAC>TCC		eukaryotic translation elongation factor 1 alpha							28.0	29.0	29.0					20																	62120282		2189	4283	6472	SO:0001583	missense	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62120282T>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.1253A>C	20.37:g.62120282T>G	ENSP00000298049:p.Tyr418Ser					EEF1A2_uc002yfe.1_Missense_Mutation_p.Y418S|EEF1A2_uc010gkg.1_Intron	p.Y418S	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		6	1354	-	all_cancers(38;9.45e-12)		418					B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	37	c.1253A>C	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.511359	0.64522	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.44881	0.91;0.91	3.12	3.12	0.35913	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.170048	0.39759	N	0.001263	T	0.74405	0.3712	H	0.96142	3.775	0.80722	D	1	P	0.39696	0.683	D	0.68039	0.955	T	0.79629	-0.1724	10	0.87932	D	0	-10.4709	11.6664	0.51376	0.0:0.0:0.0:1.0	.	418	Q05639	EF1A2_HUMAN	S	418	ENSP00000298049:Y418S;ENSP00000217182:Y418S	ENSP00000217182:Y418S	Y	-	2	0	EEF1A2	61590726	1.000000	0.71417	0.999000	0.59377	0.696000	0.40369	5.966000	0.70395	1.187000	0.43000	0.392000	0.25879	TAC		0.667	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1		NM_001958		9	32	0	0	0	0.010504	0	9	32		
TPTE	7179	broad.mit.edu	37	21	10951278	10951278	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr21:10951278A>G	ENST00000361285.4	-	10	763	c.434T>C	c.(433-435)gTa>gCa	p.V145A	TPTE_ENST00000342420.5_Missense_Mutation_p.V107A|TPTE_ENST00000298232.7_Missense_Mutation_p.V127A|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	145					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCTACAAATACTCGAAGAAG	0.353																																						uc002yip.1		NaN																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(433-435)GTA>GCA		transmembrane phosphatase with tensin homology							61.0	67.0	65.0					21																	10951278		2202	4296	6498	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10951278A>G	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.434T>C	21.37:g.10951278A>G	ENSP00000355208:p.Val145Ala					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.V127A|TPTE_uc002yir.1_Missense_Mutation_p.V107A|TPTE_uc010gkv.1_Missense_Mutation_p.V7A	p.V145A	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	10	802	-			145			Helical; (Potential).		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.434T>C	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	9.555	1.116910	0.20795	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420;ENST00000328758	D;D;D	0.98550	-4.99;-4.99;-4.99	1.8	1.8	0.24995	Ion transport (1);	0.221992	0.37437	U	0.002090	D	0.97318	0.9123	M	0.68593	2.085	0.44098	D	0.996869	P;P;P	0.49635	0.754;0.754;0.926	B;B;P	0.52646	0.395;0.331;0.705	D	0.95860	0.8882	10	0.87932	D	0	-14.3025	5.6804	0.17771	1.0:0.0:0.0:0.0	.	107;127;145	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	A	127;145;107;127	ENSP00000298232:V127A;ENSP00000355208:V145A;ENSP00000344441:V107A	ENSP00000298232:V127A	V	-	2	0	TPTE	9973149	0.761000	0.28439	0.141000	0.22245	0.121000	0.20230	2.853000	0.48317	1.084000	0.41184	0.163000	0.16589	GTA		0.353	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1				11	124	0	0	0	0.001855	0	11	124		
UBASH3A	53347	broad.mit.edu	37	21	43838515	43838515	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr21:43838515G>A	ENST00000319294.6	+	7	874	c.843G>A	c.(841-843)ctG>ctA	p.L281L	UBASH3A_ENST00000398367.1_Silent_p.L243L|UBASH3A_ENST00000291535.6_Silent_p.L243L|RNU6-1149P_ENST00000516810.1_RNA	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	281	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TCTAGACCCTGAGAGCCCTAT	0.522																																						uc002zbe.2		NaN																	0				ovary(3)	3						c.(841-843)CTG>CTA		ubiquitin associated and SH3 domain containing,							123.0	122.0	122.0					21																	43838515		2203	4300	6503	SO:0001819	synonymous_variant	53347					cytosol|nucleus		g.chr21:43838515G>A	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.843G>A	21.37:g.43838515G>A						UBASH3A_uc002zbf.2_Silent_p.L243L|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Silent_p.L243L	p.L281L	NM_018961	NP_061834	P57075	UBS3A_HUMAN			7	879	+			281			SH3.		G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Silent	SNP	ENST00000319294.6	37	c.843G>A	CCDS13687.1																																																																																				0.522	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1		NM_001001895		11	199	0	0	0	0.013537	0	11	199		
UPB1	51733	broad.mit.edu	37	22	24906761	24906761	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:24906761G>C	ENST00000326010.5	+	4	753	c.409G>C	c.(409-411)Gaa>Caa	p.E137Q	UPB1_ENST00000413389.2_Missense_Mutation_p.E69Q	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	137	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					TCCTTGGACAGAATTTGCTGA	0.502																																						uc003aaf.2		NaN																	0				ovary(2)	2						c.(409-411)GAA>CAA		beta-ureidopropionase							91.0	87.0	88.0					22																	24906761		2203	4300	6503	SO:0001583	missense	51733				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding	g.chr22:24906761G>C	AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.409G>C	22.37:g.24906761G>C	ENSP00000324343:p.Glu137Gln					UPB1_uc003aae.2_Missense_Mutation_p.E69Q|UPB1_uc011ajt.1_Missense_Mutation_p.E137Q	p.E137Q	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN			4	530	+	Colorectal(2;0.0339)		137			CN hydrolase.		A3KMF8|Q9UIR3	Missense_Mutation	SNP	ENST00000326010.5	37	c.409G>C	CCDS13827.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563692	0.86335	.	.	ENSG00000100024	ENST00000413389;ENST00000326010	D;D	0.89123	-2.47;-2.47	5.72	5.72	0.89469	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.044629	0.85682	D	0.000000	D	0.91486	0.7312	L	0.55017	1.72	0.80722	D	1	D;P	0.56968	0.978;0.901	P;P	0.54889	0.763;0.578	D	0.91189	0.4982	10	0.51188	T	0.08	-10.7396	18.867	0.92296	0.0:0.0:1.0:0.0	.	137;69	Q9UBR1;E7EUZ5	BUP1_HUMAN;.	Q	69;137	ENSP00000406057:E69Q;ENSP00000324343:E137Q	ENSP00000324343:E137Q	E	+	1	0	UPB1	23236761	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	7.622000	0.83099	2.708000	0.92522	0.650000	0.86243	GAA		0.502	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1				17	55	0	0	0	0.014323	0	17	55		
SYN3	8224	broad.mit.edu	37	22	33402582	33402582	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:33402582C>T	ENST00000358763.2	-	2	308	c.66G>A	c.(64-66)atG>atA	p.M22I	SYN3_ENST00000332840.5_Missense_Mutation_p.M22I	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	22	A.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GCAGGTCCGTCATATAGCCAT	0.607											OREG0003521	type=REGULATORY REGION|Gene=SYN3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003amx.2		NaN																	0				skin(1)	1						c.(64-66)ATG>ATA		synapsin III isoform IIIa							112.0	116.0	114.0					22																	33402582		2203	4300	6503	SO:0001583	missense	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:33402582C>T	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.66G>A	22.37:g.33402582C>T	ENSP00000351614:p.Met22Ile		OREG0003521	type=REGULATORY REGION|Gene=SYN3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	839	SYN3_uc003amy.2_Missense_Mutation_p.M22I|SYN3_uc003amz.2_Missense_Mutation_p.M22I	p.M22I	NM_003490	NP_003481	O14994	SYN3_HUMAN			1	225	-			22			A.		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	c.66G>A	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709367	0.68615	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686;ENST00000441821;ENST00000412575	T;T	0.38077	1.16;1.16	4.85	4.85	0.62838	.	0.055091	0.64402	D	0.000001	T	0.58821	0.2149	M	0.62723	1.935	0.54753	D	0.999988	D;P;D	0.54964	0.969;0.925;0.969	D;D;D	0.70227	0.968;0.954;0.968	T	0.62407	-0.6861	10	0.72032	D	0.01	-6.3775	18.3399	0.90302	0.0:1.0:0.0:0.0	.	22;22;22	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	I	22	ENSP00000351614:M22I;ENSP00000330219:M22I	ENSP00000330219:M22I	M	-	3	0	SYN3	31732582	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.665000	0.83852	2.392000	0.81423	0.557000	0.71058	ATG		0.607	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4				74	19	0	0	0	0.01441	0	74	19		
MYH9	4627	broad.mit.edu	37	22	36695028	36695028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:36695028C>A	ENST00000216181.5	-	24	3267	c.3037G>T	c.(3037-3039)Gag>Tag	p.E1013*		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1013					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						TTAGATTTCTCCTCCTCTTCT	0.527			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.(3037-3039)GAG>TAG		myosin, heavy polypeptide 9, non-muscle							249.0	202.0	218.0					22																	36695028		2203	4300	6503	SO:0001587	stop_gained	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.chr22:36695028C>A		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.3037G>T	22.37:g.36695028C>A	ENSP00000216181:p.Glu1013*						p.E1013*	NM_002473	NP_002464	P35579	MYH9_HUMAN			24	3268	-			1013			Potential.		A8K6E4|O60805|Q60FE2|Q86T83	Nonsense_Mutation	SNP	ENST00000216181.5	37	c.3037G>T	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	44	11.077229	0.99512	.	.	ENSG00000100345	ENST00000216181	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1278	0.97990	0.0:1.0:0.0:0.0	.	.	.	.	X	1013	.	ENSP00000216181:E1013X	E	-	1	0	MYH9	35024974	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.768000	0.95171	0.561000	0.74099	GAG		0.527	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3		NM_002473		44	14	1	0	3.61183e-13	0.01441	3.84176e-13	44	14		
MYH9	4627	broad.mit.edu	37	22	36695058	36695058	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:36695058C>T	ENST00000216181.5	-	24	3237	c.3007G>A	c.(3007-3009)Gag>Aag	p.E1003K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1003					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						GTGGTGAACTCAGCTATTCTG	0.498			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.(3007-3009)GAG>AAG		myosin, heavy polypeptide 9, non-muscle							249.0	205.0	220.0					22																	36695058		2203	4300	6503	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.chr22:36695058C>T		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.3007G>A	22.37:g.36695058C>T	ENSP00000216181:p.Glu1003Lys						p.E1003K	NM_002473	NP_002464	P35579	MYH9_HUMAN			24	3238	-			1003			Potential.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.3007G>A	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	35	5.583280	0.96578	.	.	ENSG00000100345	ENST00000216181	D	0.83335	-1.71	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.86016	0.5832	L	0.35593	1.075	0.80722	D	1	P	0.50943	0.94	P	0.57620	0.824	D	0.86836	0.2014	10	0.87932	D	0	.	20.1278	0.97990	0.0:1.0:0.0:0.0	.	1003	P35579	MYH9_HUMAN	K	1003	ENSP00000216181:E1003K	ENSP00000216181:E1003K	E	-	1	0	MYH9	35025004	1.000000	0.71417	0.997000	0.53966	0.882000	0.50991	7.776000	0.85560	2.768000	0.95171	0.561000	0.74099	GAG		0.498	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3		NM_002473		60	18	0	0	0	0.01441	0	60	18		
MYH9	4627	broad.mit.edu	37	22	36697638	36697638	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:36697638C>G	ENST00000216181.5	-	21	2803	c.2573G>C	c.(2572-2574)aGa>aCa	p.R858T		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	858					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						CTGCTTCTCTCTGACCTTCAC	0.617			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated		OREG0026520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(2572-2574)AGA>ACA		myosin, heavy polypeptide 9, non-muscle							162.0	113.0	130.0					22																	36697638		2202	4300	6502	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.chr22:36697638C>G		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.2573G>C	22.37:g.36697638C>G	ENSP00000216181:p.Arg858Thr		OREG0026520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	864	MYH9_uc003aph.1_Missense_Mutation_p.R722T	p.R858T	NM_002473	NP_002464	P35579	MYH9_HUMAN			21	2804	-			858			Potential.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.2573G>C	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.477071	0.63849	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.83075	-1.68	5.78	4.56	0.56223	.	0.176467	0.46442	D	0.000300	T	0.79896	0.4525	M	0.77820	2.39	0.80722	D	1	B	0.12013	0.005	B	0.17098	0.017	T	0.78188	-0.2301	10	0.72032	D	0.01	.	4.3193	0.11009	0.0:0.701:0.0:0.299	.	858	P35579	MYH9_HUMAN	T	722;858	ENSP00000216181:R858T	ENSP00000216181:R858T	R	-	2	0	MYH9	35027584	0.984000	0.35163	0.958000	0.39756	0.962000	0.63368	2.570000	0.45981	2.894000	0.99253	0.655000	0.94253	AGA		0.617	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3		NM_002473		26	11	0	0	0	0.005443	0	26	11		
MYH9	4627	broad.mit.edu	37	22	36700183	36700183	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:36700183C>G	ENST00000216181.5	-	19	2478	c.2248G>C	c.(2248-2250)Gac>Cac	p.D750H		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	750	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						AGATTGCTGTCGAGCTCCAGG	0.597			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.(2248-2250)GAC>CAC		myosin, heavy polypeptide 9, non-muscle							65.0	60.0	62.0					22																	36700183		2203	4300	6503	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.chr22:36700183C>G		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.2248G>C	22.37:g.36700183C>G	ENSP00000216181:p.Asp750His					MYH9_uc003aph.1_Missense_Mutation_p.D614H	p.D750H	NM_002473	NP_002464	P35579	MYH9_HUMAN			19	2479	-			750			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.2248G>C	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433121	0.62844	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.90324	-2.65	5.01	3.97	0.46021	Myosin head, motor domain (2);	0.048081	0.85682	N	0.000000	D	0.96355	0.8811	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97309	0.9936	10	0.87932	D	0	.	14.9189	0.70818	0.1443:0.8557:0.0:0.0	.	750	P35579	MYH9_HUMAN	H	614;750	ENSP00000216181:D750H	ENSP00000216181:D750H	D	-	1	0	MYH9	35030129	1.000000	0.71417	0.871000	0.34182	0.397000	0.30659	7.818000	0.86416	1.204000	0.43247	0.655000	0.94253	GAC		0.597	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3		NM_002473		34	7	0	0	0	0.010771	0	34	7		
GTPBP1	9567	broad.mit.edu	37	22	39104929	39104929	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:39104929G>A	ENST00000216044.5	+	2	505	c.272G>A	c.(271-273)gGa>gAa	p.G91E		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	91			G -> R (in dbSNP:rs11547402).		GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					GAGGGATGCGGAGAGACCATA	0.502																																						uc003awg.2		NaN																	0				ovary(1)	1						c.(271-273)GGA>GAA		GTP binding protein 1							126.0	114.0	118.0					22																	39104929		2203	4300	6503	SO:0001583	missense	9567				immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	g.chr22:39104929G>A	U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.272G>A	22.37:g.39104929G>A	ENSP00000216044:p.Gly91Glu						p.G91E	NM_004286	NP_004277	O00178	GTPB1_HUMAN			2	426	+	Melanoma(58;0.04)		91					Q6IC67	Missense_Mutation	SNP	ENST00000216044.5	37	c.272G>A	CCDS13977.2	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023020	0.93462	.	.	ENSG00000100226	ENST00000216044;ENST00000484657;ENST00000488787;ENST00000470836	T;T;T;D	0.87729	0.19;-0.15;-0.16;-2.29	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.95130	0.8422	M	0.90977	3.165	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.95778	0.8814	10	0.87932	D	0	.	19.4172	0.94706	0.0:0.0:1.0:0.0	.	91	O00178	GTPB1_HUMAN	E	91;10;10;10	ENSP00000216044:G91E;ENSP00000442881:G10E;ENSP00000439505:G10E;ENSP00000442628:G10E	ENSP00000216044:G91E	G	+	2	0	GTPBP1	37434875	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.400000	0.97290	2.584000	0.87258	0.561000	0.74099	GGA		0.502	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075532.1		NM_004286		41	16	0	0	0	0.01441	0	41	16		
EP300	2033	broad.mit.edu	37	22	41568628	41568628	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:41568628G>C	ENST00000263253.7	+	28	5797	c.4578G>C	c.(4576-4578)gaG>gaC	p.E1526D	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1526	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Poly-Glu.				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						AGGAAGAAGAGAGAAAACGAG	0.388			"""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.(4576-4578)GAG>GAC		E1A binding protein p300							107.0	109.0	108.0					22																	41568628		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.chr22:41568628G>C	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4578G>C	22.37:g.41568628G>C	ENSP00000263253:p.Glu1526Asp						p.E1526D	NM_001429	NP_001420	Q09472	EP300_HUMAN			28	4973	+			1526			Poly-Glu.		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.4578G>C	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857327	0.51376	.	.	ENSG00000100393	ENST00000263253	D	0.94613	-3.47	5.96	1.55	0.23275	.	0.000000	0.47093	D	0.000256	D	0.94624	0.8267	L	0.42744	1.35	0.30027	N	0.813845	D	0.76494	0.999	D	0.80764	0.994	D	0.90566	0.4519	10	0.45353	T	0.12	-14.6876	9.8499	0.41051	0.4168:0.0:0.5832:0.0	.	1526	Q09472	EP300_HUMAN	D	1526	ENSP00000263253:E1526D	ENSP00000263253:E1526D	E	+	3	2	EP300	39898574	0.999000	0.42202	0.866000	0.34008	0.869000	0.49853	0.929000	0.28844	0.429000	0.26202	-0.140000	0.14226	GAG		0.388	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429		7	26	0	0	0	0.004482	0	7	26		
CYP2D6	1565	broad.mit.edu	37	22	42523483	42523483	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:42523483C>T	ENST00000360608.5	-	7	1253	c.1139G>A	c.(1138-1140)cGt>cAt	p.R380H	NDUFA6-AS1_ENST00000610250.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.R380H|NDUFA6-AS1_ENST00000536447.2_RNA|CYP2D6_ENST00000359033.4_Missense_Mutation_p.R329H|NDUFA6-AS1_ENST00000434834.1_RNA|NDUFA6-AS1_ENST00000451451.1_RNA|NDUFA6-AS1_ENST00000595777.1_RNA|NDUFA6-AS1_ENST00000600968.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	380					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)	p.R380H(1)|p.R329H(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TTCGATGTCACGGGATGTCAT	0.612																																						uc003bce.2		NaN																	2	Substitution - Missense(2)		skin(2)	breast(1)|skin(1)	2						c.(1138-1140)CGT>CAT		cytochrome P450, family 2, subfamily D,							77.0	70.0	72.0					22																	42523483		2203	4298	6501	SO:0001583	missense	1565						electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	g.chr22:42523483C>T	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.1139G>A	22.37:g.42523483C>T	ENSP00000353820:p.Arg380His					uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Missense_Mutation_p.R74H|CYP2D6_uc003bcf.2_Missense_Mutation_p.R329H	p.R380H	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN			7	1229	-			380					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	c.1139G>A	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808260	0.31961	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	T;T;T	0.79845	-1.31;-1.31;4.97	4.93	3.91	0.45181	.	0.153666	0.44688	D	0.000423	T	0.78464	0.4287	L	0.60845	1.875	0.09310	N	1	B;B;B	0.28512	0.091;0.214;0.046	B;B;B	0.34242	0.052;0.178;0.052	T	0.69232	-0.5199	10	0.41790	T	0.15	.	12.9278	0.58270	0.0:0.9194:0.0:0.0806	.	380;329;380	C1ID54;Q6NXU8;Q6NWU0	.;.;.	H	380;380;326;329;329	ENSP00000353820:R380H;ENSP00000374620:R380H;ENSP00000351927:R329H	ENSP00000351927:R329H	R	-	2	0	CYP2D6	40853427	0.001000	0.12720	0.013000	0.15412	0.557000	0.35523	0.743000	0.26231	1.079000	0.41038	0.555000	0.69702	CGT		0.612	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1				3	32	0	0	0	0.009096	0	3	32		
IRAK2	3656	broad.mit.edu	37	3	10254974	10254974	+	Silent	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:10254974C>G	ENST00000256458.4	+	5	702	c.612C>G	c.(610-612)gtC>gtG	p.V204V		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	204					activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|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)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CAGACGTGGTCCAGGCAACCG	0.527																																						uc003bve.1		NaN																	0				lung(5)|breast(3)	8						c.(610-612)GTC>GTG		interleukin-1 receptor-associated kinase 2							81.0	77.0	78.0					3																	10254974		2203	4300	6503	SO:0001819	synonymous_variant	3656				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated 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	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10254974C>G	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.612C>G	3.37:g.10254974C>G							p.V204V	NM_001570	NP_001561	O43187	IRAK2_HUMAN			5	688	+			204					B4DQZ6|Q08AG6|Q5K546	Silent	SNP	ENST00000256458.4	37	c.612C>G	CCDS33697.1																																																																																				0.527	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1				14	66	0	0	0	0.003163	0	14	66		
TATDN2	9797	broad.mit.edu	37	3	10301923	10301923	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:10301923A>G	ENST00000287652.4	+	3	1568	c.517A>G	c.(517-519)Agg>Ggg	p.R173G	RP11-438J1.1_ENST00000450534.1_Silent_p.K99K|TATDN2_ENST00000448281.2_Missense_Mutation_p.R173G	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	173					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GGTCCAGAAAAGGAAGAGGGA	0.473																																						uc003bvg.2		NaN																	0				pancreas(2)	2						c.(517-519)AGG>GGG		TatD DNase domain containing 2							61.0	59.0	60.0					3																	10301923		2203	4300	6503	SO:0001583	missense	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10301923A>G	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.517A>G	3.37:g.10301923A>G	ENSP00000287652:p.Arg173Gly					TATDN2_uc003bvf.2_Missense_Mutation_p.R173G|TATDN2_uc011atr.1_Missense_Mutation_p.R173G|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA	p.R173G	NM_014760	NP_055575	Q93075	TATD2_HUMAN			3	1098	+			173					Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	c.517A>G	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	A	18.77	3.694220	0.68386	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.28454	1.61;1.61	4.96	4.96	0.65561	.	0.479329	0.15852	N	0.241455	T	0.35248	0.0925	M	0.64997	1.995	0.32568	N	0.530242	P	0.50066	0.931	B	0.44224	0.444	T	0.54827	-0.8235	10	0.87932	D	0	-24.0058	11.2107	0.48797	1.0:0.0:0.0:0.0	.	173	Q93075	TATD2_HUMAN	G	173	ENSP00000287652:R173G;ENSP00000408736:R173G	ENSP00000287652:R173G	R	+	1	2	TATDN2	10276923	1.000000	0.71417	0.962000	0.40283	0.943000	0.58893	3.084000	0.50143	2.208000	0.71279	0.533000	0.62120	AGG		0.473	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1		XM_376203		47	41	0	0	0	0.01441	0	47	41		
NUP210	23225	broad.mit.edu	37	3	13381432	13381432	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:13381432G>A	ENST00000254508.5	-	25	3475	c.3393C>T	c.(3391-3393)ctC>ctT	p.L1131L	NUP210_ENST00000485755.1_5'UTR	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1131					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)					TCCCGATGGCGAGGCCCTGTA	0.612																																						uc003bxv.1		NaN																	0				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(3391-3393)CTC>CTT		nucleoporin 210 precursor							123.0	121.0	122.0					3																	13381432		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.chr3:13381432G>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.3393C>T	3.37:g.13381432G>A							p.L1131L	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			25	3476	-	all_neural(104;0.187)		1131			Lumenal (Probable).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	c.3393C>T	CCDS33704.1																																																																																				0.612	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1		NM_024923		79	109	0	0	0	0.01441	0	79	109		
RFTN1	23180	broad.mit.edu	37	3	16475483	16475483	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:16475483G>A	ENST00000334133.4	-	3	479	c.207C>T	c.(205-207)ctC>ctT	p.L69L	RFTN1_ENST00000432519.1_Silent_p.L33L	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	69					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						ACAGCTCCAGGAGCTGGGCGG	0.652																																						uc003cay.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(205-207)CTC>CTT		raft-linking protein							38.0	41.0	40.0					3																	16475483		2203	4299	6502	SO:0001819	synonymous_variant	23180					plasma membrane		g.chr3:16475483G>A	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.207C>T	3.37:g.16475483G>A						RFTN1_uc010hes.2_Silent_p.L33L	p.L69L	NM_015150	NP_055965	Q14699	RFTN1_HUMAN			3	489	-			69					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Silent	SNP	ENST00000334133.4	37	c.207C>T	CCDS33712.1																																																																																				0.652	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1		NM_015150		23	30	0	0	0	0.00333	0	23	30		
TRANK1	9881	broad.mit.edu	37	3	36874032	36874032	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:36874032C>G	ENST00000429976.2	-	21	7157	c.6910G>C	c.(6910-6912)Gaa>Caa	p.E2304Q	TRANK1_ENST00000428977.2_Missense_Mutation_p.E1754Q|TRANK1_ENST00000301807.6_Missense_Mutation_p.E1754Q	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2304							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						AGCAGCTTTTCAAACTCCTCC	0.522																																						uc003cgj.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(5260-5262)GAA>CAA		lupus brain antigen 1							81.0	79.0	80.0					3																	36874032		1867	4100	5967	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36874032C>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.6910G>C	3.37:g.36874032C>G	ENSP00000416168:p.Glu2304Gln						p.E1754Q	NM_014831	NP_055646	O15050	TRNK1_HUMAN			12	5562	-			2304			Potential.		Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.5260G>C	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	11.49	1.654022	0.29425	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.36340	1.26;1.68;1.26	5.16	5.16	0.70880	.	0.110120	0.39341	N	0.001389	T	0.28732	0.0712	L	0.29908	0.895	0.35318	D	0.784528	P	0.47409	0.895	B	0.41860	0.368	T	0.41875	-0.9484	10	0.56958	D	0.05	.	12.401	0.55412	0.0:0.9225:0.0:0.0775	.	2304	O15050	TRNK1_HUMAN	Q	1754;2304;1754	ENSP00000416826:E1754Q;ENSP00000416168:E2304Q;ENSP00000301807:E1754Q	ENSP00000301807:E1754Q	E	-	1	0	TRANK1	36849036	1.000000	0.71417	0.960000	0.40013	0.416000	0.31233	4.086000	0.57664	2.574000	0.86865	0.561000	0.74099	GAA		0.522	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_014831		35	33	0	0	0	0.003755	0	35	33		
SCN11A	11280	broad.mit.edu	37	3	38988357	38988357	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:38988357G>A	ENST00000302328.3	-	2	507	c.309C>T	c.(307-309)ttC>ttT	p.F103F	SCN11A_ENST00000456224.3_Silent_p.F103F|SCN11A_ENST00000444237.2_Silent_p.F103F|SCN11A_ENST00000450244.1_Silent_p.F103F	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	103					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCTTGGCACTGAAGCGGTAGA	0.363																																						uc011ays.1		NaN																	0				skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(307-309)TTC>TTT		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						163.0	151.0	155.0					3																	38988357		2203	4300	6503	SO:0001819	synonymous_variant	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38988357G>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.309C>T	3.37:g.38988357G>A							p.F103F	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	2	508	-			103					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	ENST00000302328.3	37	c.309C>T	CCDS33737.1																																																																																				0.363	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4		NM_014139		26	56	0	0	0	0.009535	0	26	56		
TGM4	7047	broad.mit.edu	37	3	44926861	44926861	+	Missense_Mutation	SNP	G	G	A	rs141141838		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:44926861G>A	ENST00000296125.4	+	2	132	c.64G>A	c.(64-66)Gtt>Att	p.V22I		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	22					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GGACAACGCCGTTTCTCACCA	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		22167	0.0		0.001	False		,,,				2504	0.0					uc003coc.3		NaN																	0				ovary(1)	1						c.(64-66)GTT>ATT		transglutaminase 4 (prostate)	L-Glutamine(DB00130)	G	ILE/VAL	0,4406		0,0,2203	103.0	94.0	97.0		64	-4.7	0.0	3	dbSNP_134	97	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TGM4	NM_003241.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	22/685	44926861	2,13004	2203	4300	6503	SO:0001583	missense	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44926861G>A	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.64G>A	3.37:g.44926861G>A	ENSP00000296125:p.Val22Ile					TGM4_uc003coa.2_Missense_Mutation_p.V22I|TGM4_uc003cob.2_RNA	p.V22I	NM_003241	NP_003232	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	2	137	+			22					Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	c.64G>A	CCDS2723.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.10	1.838002	0.32513	0.0	2.33E-4	ENSG00000163810	ENST00000296125	D	0.85013	-1.93	2.77	-4.67	0.03319	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	2.073300	0.03978	U	0.292830	T	0.73999	0.3659	L	0.39245	1.2	0.09310	N	1	P;D	0.58620	0.513;0.983	B;B	0.41646	0.174;0.362	T	0.66878	-0.5812	10	0.18710	T	0.47	.	4.1218	0.10109	0.3935:0.3373:0.2692:0.0	.	22;22	P49221;B4YUQ1	TGM4_HUMAN;.	I	22	ENSP00000296125:V22I	ENSP00000296125:V22I	V	+	1	0	TGM4	44901865	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.952000	0.01528	-0.843000	0.04189	0.467000	0.42956	GTT		0.517	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2		NM_003241		12	32	0	0	0	0.004007	0	12	32		
ITIH4	3700	broad.mit.edu	37	3	52859944	52859944	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:52859944G>A	ENST00000266041.4	-	6	813	c.717C>T	c.(715-717)atC>atT	p.I239I	ITIH4_ENST00000406595.1_Silent_p.I239I|ITIH4_ENST00000346281.5_Silent_p.I239I|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000485816.1_Silent_p.I239I|ITIH4_ENST00000434759.3_Silent_p.I151I|ITIH4_ENST00000467462.1_5'Flank	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	239					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CATCATAGCGGATAATGAGGT	0.572																																						uc003dfz.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(715-717)ATC>ATT		inter-alpha (globulin) inhibitor H4							149.0	124.0	133.0					3																	52859944		2203	4300	6503	SO:0001819	synonymous_variant	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52859944G>A	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.717C>T	3.37:g.52859944G>A						ITIH4_uc011bel.1_5'UTR|ITIH4_uc003dfy.2_Silent_p.I103I|ITIH4_uc011bem.1_Silent_p.I239I|ITIH4_uc011ben.1_Silent_p.I239I	p.I239I	NM_002218	NP_002209	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	6	753	-			239					B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Silent	SNP	ENST00000266041.4	37	c.717C>T	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	G	2.347	-0.349767	0.05173	.	.	ENSG00000055955	ENST00000441637	.	.	.	4.98	2.0	0.26442	.	.	.	.	.	T	0.55257	0.1909	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47142	-0.9140	4	.	.	.	-17.0199	7.5248	0.27650	0.1593:0.1362:0.7045:0.0	.	.	.	.	S	97	.	.	P	-	1	0	ITIH4	52834984	0.006000	0.16342	0.917000	0.36280	0.215000	0.24574	-0.205000	0.09411	0.502000	0.28037	-0.224000	0.12420	CCG		0.572	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1		NM_002218		8	81	0	0	0	0.008291	0	8	81		
EPHA3	2042	broad.mit.edu	37	3	89259649	89259649	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:89259649G>A	ENST00000336596.2	+	3	1018	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	EPHA3_ENST00000494014.1_Missense_Mutation_p.E265K|EPHA3_ENST00000452448.2_Missense_Mutation_p.E265K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	265	Cys-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGGCTATGAAGAAAGAGGTTT	0.403										TSP Lung(6;0.00050)																												uc003dqy.2		NaN																	0				lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(793-795)GAA>AAA		ephrin receptor EphA3 isoform a precursor							153.0	153.0	153.0					3																	89259649		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89259649G>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.793G>A	3.37:g.89259649G>A	ENSP00000337451:p.Glu265Lys	TSP Lung(6;0.00050)				EPHA3_uc003dqx.1_Missense_Mutation_p.E265K|EPHA3_uc010hon.1_RNA	p.E265K	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	3	1018	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	265			Extracellular (Potential).|Cys-rich.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.793G>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606524	0.87157	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.73047	-0.69;2.73;-0.71	5.93	5.93	0.95920	Tyrosine-protein kinase ephrin type A/B receptor-like (1);	0.000000	0.85682	D	0.000000	D	0.83170	0.5196	M	0.62088	1.915	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.76071	0.987;0.979	T	0.80732	-0.1251	9	.	.	.	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	265;265	P29320;P29320-2	EPHA3_HUMAN;.	K	265	ENSP00000337451:E265K;ENSP00000399926:E265K;ENSP00000419190:E265K	.	E	+	1	0	EPHA3	89342339	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.869000	0.99810	2.798000	0.96311	0.655000	0.94253	GAA		0.403	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1		NM_005233		112	147	0	0	0	0.01441	0	112	147		
RPL24	6152	broad.mit.edu	37	3	101404687	101404687	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:101404687C>G	ENST00000394077.3	-	3	272	c.167G>C	c.(166-168)aGa>aCa	p.R56T	RPL24_ENST00000495401.1_Missense_Mutation_p.R56T|RPL24_ENST00000469605.1_Missense_Mutation_p.R56T	NM_000986.3	NP_000977.1	P83731	RL24_HUMAN	ribosomal protein L24	56					cellular protein metabolic process (GO:0044267)|exit from mitosis (GO:0010458)|gene expression (GO:0010467)|mitotic cell cycle checkpoint (GO:0007093)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|optic nerve development (GO:0021554)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|ribosomal large subunit assembly (GO:0000027)|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 large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(2)|urinary_tract(1)	4						GTGCTTCCTTCTGTAGAGGAC	0.458																																						uc003dvh.1		NaN																	0					0						c.(166-168)AGA>ACA		ribosomal protein L24							88.0	80.0	83.0					3																	101404687		2203	4300	6503	SO:0001583	missense	6152				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr3:101404687C>G	AB007177	CCDS33809.1	3q12	2011-04-06			ENSG00000114391	ENSG00000114391		"""L ribosomal proteins"""	10325	protein-coding gene	gene with protein product		604180				9582194	Standard	NM_000986		Approved	L24	uc003dvh.1	P83731	OTTHUMG00000159146	ENST00000394077.3:c.167G>C	3.37:g.101404687C>G	ENSP00000377640:p.Arg56Thr					RPL24_uc003dvi.1_Missense_Mutation_p.R56T	p.R56T	NM_000986	NP_000977	P83731	RL24_HUMAN			3	210	-			56					B2R4Y3|P38663|Q6IBS3	Missense_Mutation	SNP	ENST00000394077.3	37	c.167G>C	CCDS33809.1	.	.	.	.	.	.	.	.	.	.	C	33	5.263779	0.95399	.	.	ENSG00000114391	ENST00000394077;ENST00000495401;ENST00000469605	.	.	.	5.2	5.2	0.72013	Ribosomal protein L24e domain (1);	0.000000	0.85682	U	0.000000	D	0.85974	0.5822	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.984;0.995	D	0.89247	0.3588	9	0.87932	D	0	.	18.7416	0.91775	0.0:1.0:0.0:0.0	.	56;56	C9JXB8;P83731	.;RL24_HUMAN	T	56	.	ENSP00000377640:R56T	R	-	2	0	RPL24	102887377	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.732000	0.84908	2.436000	0.82500	0.563000	0.77884	AGA		0.458	RPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353487.1		NM_000986		44	49	0	0	0	0.01441	0	44	49		
CBLB	868	broad.mit.edu	37	3	105377987	105377987	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:105377987C>T	ENST00000264122.4	-	19	3097	c.2776G>A	c.(2776-2778)Gag>Aag	p.E926K	CBLB_ENST00000407712.1_Missense_Mutation_p.E141K|CBLB_ENST00000394027.3_Missense_Mutation_p.E904K	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	926	Interaction with SH3KBP1.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AATGCCGCCTCAGGCCCATGG	0.493			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	uc003dwc.2		NaN		Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				lung(4)|ovary(3)|breast(1)|skin(1)	9						c.(2776-2778)GAG>AAG		Cas-Br-M (murine) ecotropic retroviral							96.0	99.0	98.0					3																	105377987		2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105377987C>T	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2776G>A	3.37:g.105377987C>T	ENSP00000264122:p.Glu926Lys					CBLB_uc003dwa.2_Missense_Mutation_p.E141K|CBLB_uc011bhi.1_Missense_Mutation_p.E904K	p.E926K	NM_170662	NP_733762	Q13191	CBLB_HUMAN			19	3098	-			926			Interaction with SH3KBP1.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.2776G>A	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305351	0.60305	.	.	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000407712;ENST00000394027	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.65	4.78	0.61160	.	0.173656	0.40818	N	0.001020	T	0.36717	0.0977	N	0.19112	0.55	0.80722	D	1	B;P;P	0.42871	0.0;0.682;0.792	B;B;B	0.35182	0.001;0.197;0.197	T	0.39623	-0.9605	10	0.87932	D	0	-10.4199	14.3239	0.66505	0.0:0.9288:0.0:0.0712	.	904;926;904	E7ENW2;Q13191;B4DYP3	.;CBLB_HUMAN;.	K	265;926;141;904	ENSP00000377598:E265K;ENSP00000264122:E926K;ENSP00000384170:E141K;ENSP00000377595:E904K	ENSP00000264122:E926K	E	-	1	0	CBLB	106860677	0.999000	0.42202	0.993000	0.49108	0.893000	0.52053	3.838000	0.55828	1.370000	0.46153	0.655000	0.94253	GAG		0.493	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2		NM_170662		9	115	0	0	0	0.006214	0	9	115		
KALRN	8997	broad.mit.edu	37	3	124048774	124048774	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:124048774G>T	ENST00000240874.3	+	8	1502	c.1345G>T	c.(1345-1347)Gac>Tac	p.D449Y	KALRN_ENST00000360013.3_Missense_Mutation_p.D449Y|KALRN_ENST00000460856.1_Missense_Mutation_p.D449Y	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	449					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						CGAGATGCAAGACCTAGAGCT	0.572																																						uc003ehg.2		NaN																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(1345-1347)GAC>TAC		kalirin, RhoGEF kinase isoform 1							143.0	117.0	126.0					3																	124048774		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124048774G>T	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.1345G>T	3.37:g.124048774G>T	ENSP00000240874:p.Asp449Tyr					KALRN_uc010hrv.1_Missense_Mutation_p.D449Y|KALRN_uc003ehf.1_Missense_Mutation_p.D449Y|KALRN_uc011bjy.1_Missense_Mutation_p.D449Y	p.D449Y	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			8	1472	+			449					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.1345G>T	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.992399|3.992399	0.74703|0.74703	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.41758|.	0.99;0.99;0.99|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.058818|.	0.64402|.	D|.	0.000002|.	T|T	0.63129|0.63129	0.2485|0.2485	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	P;P;P|.	0.50617|.	0.897;0.894;0.937|.	P;B;P|.	0.58873|.	0.515;0.372;0.847|.	T|T	0.59053|0.59053	-0.7526|-0.7526	10|5	0.52906|.	T|.	0.07|.	.|.	14.4543|14.4543	0.67407|0.67407	0.0:0.147:0.853:0.0|0.0:0.147:0.853:0.0	.|.	449;449;449|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	Y|N	449|426	ENSP00000418611:D449Y;ENSP00000240874:D449Y;ENSP00000353109:D449Y|.	ENSP00000240874:D449Y|.	D|K	+|+	1|3	0|2	KALRN|KALRN	125531464|125531464	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.625000|7.625000	0.83145|0.83145	2.757000|2.757000	0.94681|0.94681	0.655000|0.655000	0.94253|0.94253	GAC|AAG		0.572	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4		NM_003947		15	117	1	0	0.00074312	0.006122	0.000756323	15	117		
COPG1	22820	broad.mit.edu	37	3	128973917	128973917	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:128973917C>T	ENST00000314797.6	+	7	593	c.489C>T	c.(487-489)tcC>tcT	p.S163S		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	163					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										TCGTGTCTTCCTTGGTGTGTA	0.488																																						uc003els.2		NaN																	0				ovary(3)|breast(1)	4						c.(487-489)TCC>TCT		coatomer protein complex, subunit gamma 1							92.0	71.0	78.0					3																	128973917		2203	4300	6503	SO:0001819	synonymous_variant	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128973917C>T	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.489C>T	3.37:g.128973917C>T						COPG_uc010htb.2_Silent_p.S69S	p.S163S	NM_016128	NP_057212	Q9Y678	COPG_HUMAN			7	589	+			163					A8K6M8|B3KMF6|Q54AC4	Silent	SNP	ENST00000314797.6	37	c.489C>T	CCDS33851.1																																																																																				0.488	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1		NM_016128		17	33	0	0	0	0.008871	0	17	33		
ACAD11	84129	broad.mit.edu	37	3	132347277	132347277	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:132347277C>G	ENST00000264990.6	-	8	1948	c.977G>C	c.(976-978)aGa>aCa	p.R326T	ACAD11_ENST00000481970.2_Missense_Mutation_p.R326T|ACAD11_ENST00000489991.1_5'Flank|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000355458.3_Missense_Mutation_p.R326T	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	326					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CAGAAGATATCTGCTATATAC	0.348																																						uc003eov.3		NaN																	0				ovary(1)	1						c.(976-978)AGA>ACA		putative acyl-CoA dehydrogenase							70.0	69.0	69.0					3																	132347277		2203	4300	6503	SO:0001583	missense	84129					peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups	g.chr3:132347277C>G	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.977G>C	3.37:g.132347277C>G	ENSP00000264990:p.Arg326Thr					ACAD11_uc011blr.1_5'Flank|ACAD11_uc003eoy.2_Missense_Mutation_p.R326T	p.R326T	NM_032169	NP_115545	Q709F0	ACD11_HUMAN			8	1357	-			326					Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	c.977G>C	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156287	0.78114	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000481970	T;T;T	0.33654	1.4;1.4;1.4	5.43	5.43	0.79202	Protein kinase-like domain (1);	.	.	.	.	T	0.73621	0.3610	H	0.96048	3.76	0.80722	D	1	D;D	0.76494	0.995;0.999	P;D	0.81914	0.844;0.995	T	0.82510	-0.0421	9	0.87932	D	0	.	19.2037	0.93722	0.0:1.0:0.0:0.0	.	326;326	D6RDI8;Q709F0	.;ACD11_HUMAN	T	326	ENSP00000347636:R326T;ENSP00000264990:R326T;ENSP00000420907:R326T	ENSP00000264990:R326T	R	-	2	0	ACAD11	133829967	1.000000	0.71417	0.938000	0.37757	0.902000	0.53008	5.280000	0.65603	2.698000	0.92095	0.655000	0.94253	AGA		0.348	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2		NM_032169		7	96	0	0	0	0.004482	0	7	96		
TOPBP1	11073	broad.mit.edu	37	3	133362970	133362970	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:133362970T>C	ENST00000260810.5	-	11	1873	c.1742A>G	c.(1741-1743)aAa>aGa	p.K581R	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	581	BRCT 4. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GGACATGATTTTCCCAGCATT	0.403								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	uc003eps.2		NaN																	0				ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						c.(1741-1743)AAA>AGA	Other_conserved_DNA_damage_response_genes	topoisomerase (DNA) II binding protein 1							91.0	87.0	88.0					3																	133362970		1899	4127	6026	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133362970T>C	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.1742A>G	3.37:g.133362970T>C	ENSP00000260810:p.Lys581Arg						p.K581R	NM_007027	NP_008958	Q92547	TOPB1_HUMAN			11	1874	-			581			BRCT 4.		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.1742A>G	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	T	10.77	1.445044	0.25987	.	.	ENSG00000163781	ENST00000260810	T	0.11930	2.73	5.72	3.31	0.37934	BRCT (2);	0.177399	0.64402	N	0.000013	T	0.10551	0.0258	L	0.43923	1.385	0.39981	D	0.974919	B	0.14438	0.01	B	0.09377	0.004	T	0.17992	-1.0351	10	0.16420	T	0.52	.	8.4041	0.32603	0.0:0.0681:0.1328:0.7991	.	581	Q92547	TOPB1_HUMAN	R	581	ENSP00000260810:K581R	ENSP00000260810:K581R	K	-	2	0	TOPBP1	134845660	1.000000	0.71417	0.859000	0.33776	0.575000	0.36095	2.824000	0.48088	0.431000	0.26258	0.482000	0.46254	AAA		0.403	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1		NM_007027		38	48	0	0	0	0.006999	0	38	48		
WDR49	151790	broad.mit.edu	37	3	167248966	167248966	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:167248966C>T	ENST00000308378.3	-	9	1404	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	WDR49_ENST00000453925.2_Missense_Mutation_p.E431K|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.E192K	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	367										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TTTTTGCCCTCAGTGTCAATC	0.408																																						uc003fev.1		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1099-1101)GAG>AAG		WD repeat domain 49							86.0	90.0	89.0					3																	167248966		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167248966C>T	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1099G>A	3.37:g.167248966C>T	ENSP00000311343:p.Glu367Lys					WDR49_uc003feu.1_Missense_Mutation_p.E192K|WDR49_uc011bpd.1_Missense_Mutation_p.E431K|WDR49_uc003few.1_Intron	p.E367K	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN			9	1405	-			367			WD 6.		Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.1099G>A	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075095	0.36566	.	.	ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925	T;T;T	0.41400	1.59;1.87;1.0	5.55	0.101	0.14517	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.753273	0.13140	N	0.410710	T	0.28699	0.0711	L	0.43923	1.385	0.09310	N	1	B;B	0.18863	0.031;0.007	B;B	0.12837	0.008;0.003	T	0.28396	-1.0045	10	0.15499	T	0.54	.	6.8959	0.24255	0.0:0.6456:0.1165:0.2379	.	431;367	E7EQK3;Q8IV35	.;WDR49_HUMAN	K	367;192;431	ENSP00000311343:E367K;ENSP00000420508:E192K;ENSP00000410863:E431K	ENSP00000311343:E367K	E	-	1	0	WDR49	168731660	0.104000	0.21937	0.000000	0.03702	0.066000	0.16364	0.407000	0.21049	-0.302000	0.08869	0.557000	0.71058	GAG		0.408	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3		NM_178824		6	112	0	0	0	0.001168	0	6	112		
TNFSF10	8743	broad.mit.edu	37	3	172229441	172229441	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:172229441C>G	ENST00000241261.2	-	3	401	c.279G>C	c.(277-279)ttG>ttC	p.L93F	TNFSF10_ENST00000420541.2_Intron	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	93					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CAGAGGTTCTCAAAATCATCT	0.313																																						uc003fid.2		NaN																	0				skin(4)|lung(1)	5						c.(277-279)TTG>TTC		tumor necrosis factor (ligand) superfamily,							63.0	66.0	65.0					3																	172229441		2203	4299	6502	SO:0001583	missense	8743				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	g.chr3:172229441C>G	U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.279G>C	3.37:g.172229441C>G	ENSP00000241261:p.Leu93Phe					TNFSF10_uc003fie.2_Intron	p.L93F	NM_003810	NP_003801	P50591	TNF10_HUMAN	Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		3	374	-	Ovarian(172;0.00197)|Breast(254;0.158)		93			Extracellular (Potential).		A1Y9B3	Missense_Mutation	SNP	ENST00000241261.2	37	c.279G>C	CCDS3219.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501518	0.44455	.	.	ENSG00000121858	ENST00000241261	D	0.87729	-2.29	5.03	5.03	0.67393	.	0.289149	0.34484	N	0.003928	D	0.90345	0.6979	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	D	0.89982	0.4101	10	0.56958	D	0.05	-18.1307	9.27	0.37666	0.0:0.8956:0.0:0.1044	.	93	P50591	TNF10_HUMAN	F	93	ENSP00000241261:L93F	ENSP00000241261:L93F	L	-	3	2	TNFSF10	173712135	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	0.848000	0.27710	2.487000	0.83934	0.563000	0.77884	TTG		0.313	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346601.1				22	14	0	0	0	0.007291	0	22	14		
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	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				30	50	0	0	0	0.004878	0	30	50		
CHRD	8646	broad.mit.edu	37	3	184104518	184104518	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:184104518C>T	ENST00000204604.1	+	16	2417	c.2171C>T	c.(2170-2172)cCg>cTg	p.P724L	CHRD_ENST00000348986.3_Missense_Mutation_p.P684L|CHRD_ENST00000450923.1_Missense_Mutation_p.P724L|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	724	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AACTACGACCCGCTCTGCTCA	0.672																																						uc003fov.2		NaN																	0				skin(2)|ovary(1)	3						c.(2170-2172)CCG>CTG		chordin precursor							17.0	16.0	16.0					3																	184104518		2195	4273	6468	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184104518C>T	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2171C>T	3.37:g.184104518C>T	ENSP00000204604:p.Pro724Leu					CHRD_uc003fow.2_Missense_Mutation_p.P354L|CHRD_uc003fox.2_Missense_Mutation_p.P724L|CHRD_uc003foy.2_Missense_Mutation_p.P354L|CHRD_uc010hyc.2_Missense_Mutation_p.P314L|CHRD_uc011brr.1_Intron	p.P724L	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		16	2417	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		724			VWFC 2.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.2171C>T	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467145	0.63625	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000342610	T;T;T	0.65364	-0.15;-0.15;-0.15	4.73	4.73	0.59995	von Willebrand factor, type C (3);	0.349309	0.27185	N	0.020533	T	0.74951	0.3784	M	0.79123	2.44	0.80722	D	1	D;D;D	0.71674	0.992;0.998;0.997	P;D;P	0.65874	0.682;0.939;0.788	T	0.77216	-0.2669	10	0.66056	D	0.02	-23.7085	8.6397	0.33970	0.1687:0.6679:0.1635:0.0	.	684;724;724	Q9H2X0-5;E7ESX1;Q9H2X0	.;.;CHRD_HUMAN	L	724;724;684;437	ENSP00000204604:P724L;ENSP00000408972:P724L;ENSP00000334036:P684L	ENSP00000204604:P724L	P	+	2	0	CHRD	185587212	0.436000	0.25586	1.000000	0.80357	0.957000	0.61999	0.942000	0.29017	2.346000	0.79739	0.462000	0.41574	CCG		0.672	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1		NM_003741		12	16	0	0	0	0.013537	0	12	16		
DGKG	1608	broad.mit.edu	37	3	185985533	185985533	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:185985533C>T	ENST00000265022.3	-	13	1689	c.1150G>A	c.(1150-1152)Gac>Aac	p.D384N	DGKG_ENST00000544847.1_Missense_Mutation_p.D345N|DGKG_ENST00000344484.4_Missense_Mutation_p.D384N|DGKG_ENST00000382164.4_Missense_Mutation_p.D345N	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	384					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TCCCCACCGTCACACAACGTT	0.522																																						uc003fqa.2		NaN																	0				breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1150-1152)GAC>AAC		diacylglycerol kinase gamma isoform 1	Phosphatidylserine(DB00144)						123.0	118.0	120.0					3																	185985533		2203	4300	6503	SO:0001583	missense	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:185985533C>T	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1150G>A	3.37:g.185985533C>T	ENSP00000265022:p.Asp384Asn					DGKG_uc003fqb.2_Missense_Mutation_p.D345N|DGKG_uc003fqc.2_Missense_Mutation_p.D384N|DGKG_uc011brx.1_Missense_Mutation_p.D345N	p.D384N	NM_001346	NP_001337	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	13	1687	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		384			Phorbol-ester/DAG-type 2.		B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	c.1150G>A	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952255	0.73787	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691;ENST00000437018	D;D;D;T;D	0.85339	-1.88;-1.88;-1.97;-1.47;-1.88	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.83741	0.5320	L	0.46614	1.455	0.80722	D	1	P;B;B;B	0.35124	0.485;0.307;0.285;0.188	B;B;B;B	0.41036	0.346;0.204;0.132;0.042	T	0.82470	-0.0441	10	0.34782	T	0.22	.	16.6279	0.84984	0.0:1.0:0.0:0.0	.	345;384;345;384	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	N	384;384;345;345;348;135	ENSP00000265022:D384N;ENSP00000339777:D384N;ENSP00000371599:D345N;ENSP00000440507:D345N;ENSP00000395526:D135N	ENSP00000265022:D384N	D	-	1	0	DGKG	187468227	1.000000	0.71417	0.978000	0.43139	0.836000	0.47400	6.807000	0.75201	2.555000	0.86185	0.461000	0.40582	GAC		0.522	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3				56	101	0	0	0	0.01441	0	56	101		
CPN2	1370	broad.mit.edu	37	3	194062300	194062300	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:194062300C>T	ENST00000323830.3	-	2	1221	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	CPN2_ENST00000429275.1_Missense_Mutation_p.E378K	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	378					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AAGATGCCCTCCGGAAGTGTG	0.602																																						uc003fts.2		NaN																	0				ovary(5)	5						c.(1132-1134)GAG>AAG		carboxypeptidase N, polypeptide 2							94.0	101.0	98.0					3																	194062300		2203	4300	6503	SO:0001583	missense	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194062300C>T	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1132G>A	3.37:g.194062300C>T	ENSP00000319464:p.Glu378Lys						p.E378K	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	2	1222	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		378			LRR 12.		B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	ENST00000323830.3	37	c.1132G>A	CCDS33920.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.535126	0.00942	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.25414	1.8;1.8	5.56	-4.98	0.03019	.	0.211853	0.23912	N	0.043336	T	0.10035	0.0246	N	0.16602	0.42	0.09310	N	1	B	0.21071	0.051	B	0.17433	0.018	T	0.37314	-0.9711	10	0.06099	T	0.92	.	10.6902	0.45867	0.0:0.2454:0.4931:0.2615	.	378	P22792	CPN2_HUMAN	K	378	ENSP00000319464:E378K;ENSP00000402232:E378K	ENSP00000319464:E378K	E	-	1	0	CPN2	195543995	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.107000	0.10873	-1.062000	0.03181	-0.175000	0.13238	GAG		0.602	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2		NM_001080513		52	76	0	0	0	0.01441	0	52	76		
SORCS2	57537	broad.mit.edu	37	4	7398029	7398029	+	Silent	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:7398029G>C	ENST00000507866.2	+	2	604	c.495G>C	c.(493-495)ctG>ctC	p.L165L	SORCS2_ENST00000511199.1_3'UTR|SORCS2_ENST00000329016.9_5'UTR	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	165					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TCTTGATCCTGACGAAGTACT	0.517																																						uc003gkb.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(493-495)CTG>CTC		VPS10 domain receptor protein SORCS 2 precursor							123.0	119.0	120.0					4																	7398029		2003	4176	6179	SO:0001819	synonymous_variant	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7398029G>C	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.495G>C	4.37:g.7398029G>C						SORCS2_uc011bwi.1_5'UTR	p.L165L	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN			2	495	+			165			Lumenal (Potential).		Q9P2L7	Silent	SNP	ENST00000507866.2	37	c.495G>C	CCDS47008.1																																																																																				0.517	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4		NM_020777		18	35	0	0	0	0.005443	0	18	35		
TEC	7006	broad.mit.edu	37	4	48151605	48151605	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:48151605C>G	ENST00000381501.3	-	11	1132	c.975G>C	c.(973-975)gaG>gaC	p.E325D	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	325	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						ATTCAATAATCTCAGGAATGG	0.343																																						uc003gxz.2		NaN																	0				lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9						c.(973-975)GAG>GAC		tec protein tyrosine kinase							177.0	171.0	173.0					4																	48151605		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.chr4:48151605C>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.975G>C	4.37:g.48151605C>G	ENSP00000370912:p.Glu325Asp						p.E325D	NM_003215	NP_003206	P42680	TEC_HUMAN			11	1066	-			325			SH2.		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	c.975G>C	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	C	9.541	1.113368	0.20795	.	.	ENSG00000135605	ENST00000381501	D	0.93133	-3.17	5.8	4.79	0.61399	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.89389	0.6701	L	0.39898	1.24	0.43018	D	0.994562	B	0.24368	0.102	B	0.31337	0.128	D	0.84428	0.0575	10	0.28530	T	0.3	.	10.3584	0.43977	0.0:0.8554:0.0:0.1446	.	325	P42680	TEC_HUMAN	D	325	ENSP00000370912:E325D	ENSP00000370912:E325D	E	-	3	2	TEC	47846362	0.976000	0.34144	1.000000	0.80357	0.241000	0.25554	0.361000	0.20267	2.758000	0.94735	0.563000	0.77884	GAG		0.343	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3				3	88	0	0	0	0.000602	0	3	88		
KDR	3791	broad.mit.edu	37	4	55948135	55948135	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:55948135G>A	ENST00000263923.4	-	29	4131	c.3836C>T	c.(3835-3837)tCt>tTt	p.S1279F	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1279					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAAAGATGGAGATAATTTGGT	0.388			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2		NaN		Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		0				lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(3835-3837)TCT>TTT		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						84.0	82.0	83.0					4																	55948135		2203	4300	6503	SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55948135G>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3836C>T	4.37:g.55948135G>A	ENSP00000263923:p.Ser1279Phe	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.S1279F	p.S1279F	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		29	4138	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1279			Cytoplasmic (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.3836C>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	9.685	1.150404	0.21371	.	.	ENSG00000128052	ENST00000263923	T	0.76316	-1.01	5.85	4.0	0.46444	.	0.866846	0.10431	N	0.675496	T	0.65585	0.2705	L	0.34521	1.04	0.09310	N	1	B	0.20164	0.042	B	0.19946	0.027	T	0.56202	-0.8018	10	0.52906	T	0.07	.	3.3086	0.07009	0.1692:0.1231:0.5662:0.1415	.	1279	P35968	VGFR2_HUMAN	F	1279	ENSP00000263923:S1279F	ENSP00000263923:S1279F	S	-	2	0	KDR	55642892	0.990000	0.36364	0.987000	0.45799	0.539000	0.34962	2.195000	0.42677	0.708000	0.31955	0.586000	0.80456	TCT		0.388	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1				9	102	0	0	0	0.001855	0	9	102		
NAAA	27163	broad.mit.edu	37	4	76862017	76862017	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:76862017G>A	ENST00000286733.4	-	1	187	c.86C>T	c.(85-87)tCg>tTg	p.S29L	NAAA_ENST00000505594.1_5'Flank|NAAA_ENST00000399497.3_Missense_Mutation_p.S29L|NAAA_ENST00000507956.1_Missense_Mutation_p.S29L|NAAA_ENST00000507187.2_Missense_Mutation_p.S29L	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	29					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						TGCTGGGGGCGAGGCGGCTGA	0.756																																						uc003hjb.2		NaN																	0				skin(1)	1						c.(85-87)TCG>TTG		N-acylethanolamine acid amidase isoform 1							5.0	6.0	6.0					4																	76862017		1682	3745	5427	SO:0001583	missense	27163				lipid metabolic process	lysosome	hydrolase activity	g.chr4:76862017G>A	M92449	CCDS43239.1	4q21.1	2011-09-23	2008-04-24	2008-04-24	ENSG00000138744	ENSG00000138744	3.5.1.-		736	protein-coding gene	gene with protein product		607469	"""N-acylsphingosine amidohydrolase (acid ceramidase)-like"""	ASAHL		10610717, 1446826	Standard	NM_001042402		Approved		uc003hjb.3	Q02083	OTTHUMG00000160855	ENST00000286733.4:c.86C>T	4.37:g.76862017G>A	ENSP00000286733:p.Ser29Leu					NAAA_uc003hja.2_Missense_Mutation_p.S29L|NAAA_uc003hjc.3_Missense_Mutation_p.S29L|NAAA_uc003hjd.3_RNA|NAAA_uc011cbq.1_5'Flank|NAAA_uc010iiz.1_Missense_Mutation_p.S29L	p.S29L	NM_014435	NP_055250	Q02083	NAAA_HUMAN			1	150	-			29					Q5KTF2|Q96EY2|Q9BRA8	Missense_Mutation	SNP	ENST00000286733.4	37	c.86C>T	CCDS43239.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.309459	0.23821	.	.	ENSG00000138744	ENST00000399497;ENST00000286733;ENST00000507956;ENST00000399490;ENST00000507187	T;T;T;T	0.68903	-0.36;-0.2;-0.36;0.92	3.36	2.51	0.30379	.	1.153800	0.06333	N	0.706444	T	0.48607	0.1509	N	0.22421	0.69	0.09310	N	1	B;B	0.17465	0.022;0.007	B;B	0.08055	0.003;0.001	T	0.30416	-0.9979	10	0.11182	T	0.66	0.2336	6.437	0.21829	0.1398:0.0:0.8602:0.0	.	29;29	D6R9S9;Q02083	.;NAAA_HUMAN	L	29	ENSP00000382420:S29L;ENSP00000286733:S29L;ENSP00000427641:S29L;ENSP00000423142:S29L	ENSP00000286733:S29L	S	-	2	0	NAAA	77081041	0.000000	0.05858	0.005000	0.12908	0.157000	0.22087	-0.146000	0.10250	0.750000	0.32877	0.460000	0.39030	TCG		0.756	NAAA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362843.4				10	6	0	0	0	0.008291	0	10	6		
HERC6	55008	broad.mit.edu	37	4	89361189	89361189	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:89361189G>C	ENST00000264346.7	+	21	2778	c.2719G>C	c.(2719-2721)Gac>Cac	p.D907H	HERC6_ENST00000380265.5_Missense_Mutation_p.D871H	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	907	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				hematopoietic progenitor cell differentiation (GO:0002244)|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)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TACTGATTATGACTGGAAACA	0.378																																						uc011cdi.1		NaN																	0				lung(3)|ovary(1)|kidney(1)	5						c.(2719-2721)GAC>CAC		hect domain and RLD 6 isoform 1							68.0	62.0	64.0					4																	89361189		1822	4091	5913	SO:0001583	missense	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89361189G>C	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.2719G>C	4.37:g.89361189G>C	ENSP00000264346:p.Asp907His					HERC6_uc011cdj.1_Missense_Mutation_p.D871H|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA	p.D907H	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	21	2902	+		Hepatocellular(203;0.114)	907			HECT.		B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	c.2719G>C	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468795	0.84533	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.55413	0.52;0.52	4.9	4.9	0.64082	HECT (4);	0.000000	0.64402	D	0.000005	T	0.81574	0.4851	H	0.96301	3.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.87423	0.2383	10	0.87932	D	0	.	17.3556	0.87335	0.0:0.0:1.0:0.0	.	871;907	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	H	871;907	ENSP00000369617:D871H;ENSP00000264346:D907H	ENSP00000264346:D907H	D	+	1	0	HERC6	89580212	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.854000	0.62918	2.697000	0.92050	0.585000	0.79938	GAC		0.378	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2				22	31	0	0	0	0.007291	0	22	31		
CCSER1	401145	broad.mit.edu	37	4	91230198	91230198	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:91230198C>G	ENST00000509176.1	+	2	1051	c.763C>G	c.(763-765)Cag>Gag	p.Q255E	CCSER1_ENST00000432775.2_Missense_Mutation_p.Q255E|CCSER1_ENST00000333691.8_Missense_Mutation_p.Q255E	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	255																	TACCACAGCTCAGACACCTTC	0.433																																						uc003hsv.3		NaN																	0				large_intestine(1)|ovary(1)	2						c.(763-765)CAG>GAG		KIAA1680 protein isoform 1							113.0	106.0	108.0					4																	91230198		1856	4112	5968	SO:0001583	missense	401145							g.chr4:91230198C>G		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.763C>G	4.37:g.91230198C>G	ENSP00000425040:p.Gln255Glu					FAM190A_uc003hsu.3_Missense_Mutation_p.Q255E|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.Q255E	p.Q255E	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN			2	1103	+			255					Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.763C>G	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796683	0.50208	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.46063	1.42;0.88;1.42	4.94	4.94	0.65067	.	0.390293	0.26863	N	0.022107	T	0.37839	0.1018	L	0.40543	1.245	0.25571	N	0.9869	P;P;P	0.51933	0.874;0.774;0.949	B;B;B	0.41723	0.365;0.318;0.318	T	0.31336	-0.9947	10	0.31617	T	0.26	-16.1072	19.0681	0.93122	0.0:1.0:0.0:0.0	.	255;255;255	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	E	255	ENSP00000425040:Q255E;ENSP00000389283:Q255E;ENSP00000329482:Q255E	ENSP00000329482:Q255E	Q	+	1	0	FAM190A	91449221	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	2.168000	0.42424	2.677000	0.91161	0.655000	0.94253	CAG		0.433	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3		NM_001145065		49	61	0	0	0	0.01441	0	49	61		
BDH2	56898	broad.mit.edu	37	4	104003301	104003301	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:104003301C>A	ENST00000296424.4	-	9	741	c.621G>T	c.(619-621)aaG>aaT	p.K207N		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	207					epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		ATCTTCCCGTCTTTTGTCTCT	0.458																																						uc003hwz.2		NaN																	0					0						c.(619-621)AAG>AAT		3-hydroxybutyrate dehydrogenase, type 2							138.0	121.0	127.0					4																	104003301		2203	4300	6503	SO:0001583	missense	56898				fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	g.chr4:104003301C>A	AF164790	CCDS3663.1	4q24	2011-09-14			ENSG00000164039	ENSG00000164039	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	32389	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 15C, member 1"""		"""dehydrogenase/reductase (SDR family) member 6"""	DHRS6		16380372, 19027726	Standard	XM_005263140		Approved	UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1	uc003hwz.3	Q9BUT1	OTTHUMG00000074039	ENST00000296424.4:c.621G>T	4.37:g.104003301C>A	ENSP00000296424:p.Lys207Asn					BDH2_uc003hxa.2_RNA	p.K207N	NM_020139	NP_064524	Q9BUT1	BDH2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)	9	726	-		Hepatocellular(203;0.217)	207					A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	Missense_Mutation	SNP	ENST00000296424.4	37	c.621G>T	CCDS3663.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.786787	0.70337	.	.	ENSG00000164039	ENST00000296424	T	0.21734	1.99	5.03	2.3	0.28687	NAD(P)-binding domain (1);	0.194214	0.56097	D	0.000040	T	0.12646	0.0307	N	0.11313	0.125	0.43164	D	0.994958	P	0.47484	0.896	P	0.44394	0.448	T	0.07558	-1.0766	10	0.87932	D	0	.	9.1413	0.36906	0.0:0.7506:0.0:0.2494	.	207	Q9BUT1	BDH2_HUMAN	N	207	ENSP00000296424:K207N	ENSP00000296424:K207N	K	-	3	2	BDH2	104222750	0.996000	0.38824	0.924000	0.36721	0.853000	0.48598	0.382000	0.20635	0.227000	0.20999	0.655000	0.94253	AAG		0.458	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157159.2		NM_020139		8	85	1	0	2.17888e-05	0.006214	2.2289e-05	8	85		
TET2	54790	broad.mit.edu	37	4	106157401	106157401	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:106157401G>C	ENST00000540549.1	+	3	3162	c.2302G>C	c.(2302-2304)Gat>Cat	p.D768H	TET2_ENST00000513237.1_Missense_Mutation_p.D789H|TET2_ENST00000545826.1_Missense_Mutation_p.D768H|TET2_ENST00000380013.4_Missense_Mutation_p.D768H|TET2_ENST00000413648.2_Missense_Mutation_p.D768H|TET2_ENST00000394764.1_Missense_Mutation_p.D768H|TET2_ENST00000305737.2_Missense_Mutation_p.D768H			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	768	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AAGCAACAATGATCAGCAAAG	0.383			"""Mis N, F"""		MDS																																	uc003hxk.2		NaN		Rec	yes		4	4q24	54790	Mis N|F	tet oncogene family member 2			L			MDS		0				haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733						c.(2302-2304)GAT>CAT		tet oncogene family member 2 isoform a							62.0	65.0	64.0					4																	106157401		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106157401G>C	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2302G>C	4.37:g.106157401G>C	ENSP00000442788:p.Asp768His					TET2_uc011cez.1_Missense_Mutation_p.D789H|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.D768H|TET2_uc003hxi.1_Missense_Mutation_p.D768H	p.D768H	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	2688	+		Myeloproliferative disorder(5;0.0393)	768			Gln-rich.		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.2302G>C	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	G	9.764	1.170945	0.21621	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.04317	3.66;4.31;3.65;4.31;4.31;3.66;3.67	5.63	3.9	0.45041	.	7.229550	0.00166	N	0.000001	T	0.04998	0.0134	N	0.14661	0.345	0.09310	N	1	B;B;B	0.21071	0.007;0.007;0.051	B;B;B	0.22880	0.007;0.007;0.042	T	0.36720	-0.9736	10	0.51188	T	0.08	.	7.8806	0.29621	0.1393:0.1329:0.7277:0.0	.	789;768;768	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	H	768;768;768;789;768;768;768	ENSP00000306705:D768H;ENSP00000442788:D768H;ENSP00000442867:D768H;ENSP00000425443:D789H;ENSP00000369351:D768H;ENSP00000378245:D768H;ENSP00000391448:D768H	ENSP00000265149:D768H	D	+	1	0	TET2	106376850	0.540000	0.26410	0.187000	0.23214	0.991000	0.79684	2.982000	0.49337	0.725000	0.32318	0.655000	0.94253	GAT		0.383	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2		NM_017628		42	54	0	0	0	0.01441	0	42	54		
TET2	54790	broad.mit.edu	37	4	106158369	106158369	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:106158369G>C	ENST00000540549.1	+	3	4130	c.3270G>C	c.(3268-3270)aaG>aaC	p.K1090N	TET2_ENST00000513237.1_Missense_Mutation_p.K1111N|TET2_ENST00000545826.1_Missense_Mutation_p.K1090N|TET2_ENST00000380013.4_Missense_Mutation_p.K1090N|TET2_ENST00000413648.2_Missense_Mutation_p.K1090N|TET2_ENST00000394764.1_Missense_Mutation_p.K1090N|TET2_ENST00000305737.2_Missense_Mutation_p.K1090N			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1090					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CTTCAGAAAAGACACCAACCA	0.393			"""Mis N, F"""		MDS																																	uc003hxk.2		NaN		Rec	yes		4	4q24	54790	Mis N|F	tet oncogene family member 2			L			MDS		0		p.K1090fs*16(1)		haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733						c.(3268-3270)AAG>AAC		tet oncogene family member 2 isoform a							71.0	71.0	71.0					4																	106158369		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106158369G>C	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.3270G>C	4.37:g.106158369G>C	ENSP00000442788:p.Lys1090Asn					TET2_uc011cez.1_Missense_Mutation_p.K1111N|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.K1090N|TET2_uc003hxi.1_Missense_Mutation_p.K1090N	p.K1090N	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	3656	+		Myeloproliferative disorder(5;0.0393)	1090					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.3270G>C	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280373	0.59758	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.23348	1.91;1.91;3.64;1.91;1.91;1.91;1.91	5.43	4.4	0.53042	.	1.612660	0.03481	N	0.215039	T	0.30885	0.0779	L	0.43152	1.355	0.24566	N	0.993942	B;B;P	0.46277	0.064;0.411;0.875	B;B;P	0.47376	0.023;0.265;0.545	T	0.12785	-1.0534	10	0.36615	T	0.2	.	6.2866	0.21037	0.2686:0.0:0.7314:0.0	.	1111;1090;1090	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	N	1090;1090;1090;1111;1090;1090;1090	ENSP00000306705:K1090N;ENSP00000442788:K1090N;ENSP00000442867:K1090N;ENSP00000425443:K1111N;ENSP00000369351:K1090N;ENSP00000378245:K1090N;ENSP00000391448:K1090N	ENSP00000265149:K1090N	K	+	3	2	TET2	106377818	0.966000	0.33281	1.000000	0.80357	0.994000	0.84299	1.815000	0.38981	2.543000	0.85770	0.655000	0.94253	AAG		0.393	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2		NM_017628		30	26	0	0	0	0.003271	0	30	26		
TET2	54790	broad.mit.edu	37	4	106158415	106158415	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:106158415G>C	ENST00000540549.1	+	3	4176	c.3316G>C	c.(3316-3318)Gag>Cag	p.E1106Q	TET2_ENST00000513237.1_Missense_Mutation_p.E1127Q|TET2_ENST00000545826.1_Missense_Mutation_p.E1106Q|TET2_ENST00000380013.4_Missense_Mutation_p.E1106Q|TET2_ENST00000413648.2_Missense_Mutation_p.E1106Q|TET2_ENST00000394764.1_Missense_Mutation_p.E1106Q|TET2_ENST00000305737.2_Missense_Mutation_p.E1106Q			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1106					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TAATTTTATAGAGTCACCTTC	0.373			"""Mis N, F"""		MDS																																	uc003hxk.2		NaN		Rec	yes		4	4q24	54790	Mis N|F	tet oncogene family member 2			L			MDS		0				haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733						c.(3316-3318)GAG>CAG		tet oncogene family member 2 isoform a							56.0	60.0	59.0					4																	106158415		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106158415G>C	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.3316G>C	4.37:g.106158415G>C	ENSP00000442788:p.Glu1106Gln					TET2_uc011cez.1_Missense_Mutation_p.E1127Q|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.E1106Q|TET2_uc003hxi.1_Missense_Mutation_p.E1106Q	p.E1106Q	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	3702	+		Myeloproliferative disorder(5;0.0393)	1106					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.3316G>C	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.453079	0.84209	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.79	5.79	0.91817	.	1.893540	0.03274	N	0.185254	T	0.64068	0.2565	M	0.69358	2.11	0.53688	D	0.999976	D;D;D	0.89917	0.997;0.997;1.0	D;D;D	0.79784	0.961;0.961;0.993	T	0.46789	-0.9166	10	0.72032	D	0.01	.	20.04	0.97581	0.0:0.0:1.0:0.0	.	1127;1106;1106	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	Q	1106;1106;1106;1127;1106;1106;1106	ENSP00000306705:E1106Q;ENSP00000442788:E1106Q;ENSP00000442867:E1106Q;ENSP00000425443:E1127Q;ENSP00000369351:E1106Q;ENSP00000378245:E1106Q;ENSP00000391448:E1106Q	ENSP00000265149:E1106Q	E	+	1	0	TET2	106377864	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.357000	0.97099	2.733000	0.93635	0.655000	0.94253	GAG		0.373	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2		NM_017628		35	45	0	0	0	0.00623	0	35	45		
INPP4B	8821	broad.mit.edu	37	4	143045828	143045828	+	Silent	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:143045828C>G	ENST00000513000.1	-	20	2239	c.1806G>C	c.(1804-1806)ctG>ctC	p.L602L	INPP4B_ENST00000308502.4_Silent_p.L602L|INPP4B_ENST00000508116.1_Silent_p.L602L|INPP4B_ENST00000262992.4_Silent_p.L602L|INPP4B_ENST00000509777.1_Silent_p.L602L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	602					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GCACAAATGTCAGGGACTGCT	0.537																																						uc003iix.3		NaN																	0				ovary(1)|lung(1)	2						c.(1804-1806)CTG>CTC		inositol polyphosphate-4-phosphatase, type II,							108.0	86.0	94.0					4																	143045828		2203	4300	6503	SO:0001819	synonymous_variant	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143045828C>G	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1806G>C	4.37:g.143045828C>G						INPP4B_uc003iiw.3_Silent_p.L602L|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Silent_p.L417L|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Silent_p.L473L	p.L602L	NM_003866	NP_003857	O15327	INP4B_HUMAN			20	2401	-	all_hematologic(180;0.158)		602					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Silent	SNP	ENST00000513000.1	37	c.1806G>C	CCDS3757.1																																																																																				0.537	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1		NM_003866		32	48	0	0	0	0.013726	0	32	48		
MAP9	79884	broad.mit.edu	37	4	156289749	156289749	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:156289749G>C	ENST00000311277.4	-	5	960	c.697C>G	c.(697-699)Ctt>Gtt	p.L233V	AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000600928.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.L233V|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000597831.1_RNA|MAP9_ENST00000379248.2_Missense_Mutation_p.L160V	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	233					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TCAGGATCAAGGTTTTCAGAG	0.378																																						uc003ios.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(697-699)CTT>GTT		aster-associated protein							114.0	105.0	108.0					4																	156289749		2203	4300	6503	SO:0001583	missense	79884				cell division|mitosis	cytoplasm|microtubule|spindle		g.chr4:156289749G>C	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.697C>G	4.37:g.156289749G>C	ENSP00000310593:p.Leu233Val					MAP9_uc011cin.1_Missense_Mutation_p.L232V|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Missense_Mutation_p.L232V|MAP9_uc010iqb.1_Missense_Mutation_p.L160V	p.L233V	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN		COAD - Colon adenocarcinoma(41;0.143)	5	961	-	all_hematologic(180;0.24)	Renal(120;0.0458)	233					Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	c.697C>G	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	G	0.411	-0.913208	0.02415	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836;ENST00000379248	T;T;T;T	0.32753	2.24;2.18;1.49;1.44	5.09	0.163	0.14986	.	0.785434	0.11238	N	0.584975	T	0.17704	0.0425	L	0.31294	0.92	0.09310	N	1	B;B;B;B	0.28350	0.009;0.208;0.126;0.126	B;B;B;B	0.30029	0.008;0.11;0.045;0.045	T	0.27157	-1.0082	10	0.27082	T	0.32	1.1875	2.2519	0.04045	0.1554:0.282:0.4174:0.1451	.	232;160;233;233	B4DVG9;A8MSM7;B9EJB6;Q49MG5	.;.;.;MAP9_HUMAN	V	233;233;232;233;160	ENSP00000310593:L233V;ENSP00000427402:L233V;ENSP00000394048:L232V;ENSP00000368550:L160V	ENSP00000310593:L233V	L	-	1	0	MAP9	156509199	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.628000	0.24522	-0.235000	0.09767	0.467000	0.42956	CTT		0.378	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3		NM_001039580		22	35	0	0	0	0.003954	0	22	35		
ANXA10	11199	broad.mit.edu	37	4	169108570	169108570	+	Silent	SNP	T	T	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:169108570T>C	ENST00000359299.3	+	12	1146	c.960T>C	c.(958-960)gaT>gaC	p.D320D		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	320						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		GTGCTGGTGATGCTGAGGACT	0.343																																						uc003irm.2		NaN																	0					0						c.(958-960)GAT>GAC		annexin A10							107.0	102.0	104.0					4																	169108570		2203	4300	6503	SO:0001819	synonymous_variant	11199						calcium ion binding|calcium-dependent phospholipid binding	g.chr4:169108570T>C	AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"""Annexins"""	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.960T>C	4.37:g.169108570T>C						ANXA10_uc003irn.2_Silent_p.D192D	p.D320D	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN		GBM - Glioblastoma multiforme(119;0.0325)	12	1105	+		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	320					Q96IQ5|Q9UJV4	Silent	SNP	ENST00000359299.3	37	c.960T>C	CCDS34096.1																																																																																				0.343	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364348.2		NM_007193		32	42	0	0	0	0.00874	0	32	42		
NEIL3	55247	broad.mit.edu	37	4	178274823	178274823	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:178274823G>A	ENST00000264596.3	+	8	1519	c.1401G>A	c.(1399-1401)ccG>ccA	p.P467P	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	467					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		ATAAAAAACCGAAAACAGCCC	0.353								Base excision repair (BER), DNA glycosylases																														uc003iut.2		NaN																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(1399-1401)CCG>CCA	BER_DNA_glycosylases	nei endonuclease VIII-like 3							74.0	72.0	73.0					4																	178274823		2203	4300	6503	SO:0001819	synonymous_variant	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178274823G>A	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1401G>A	4.37:g.178274823G>A						NEIL3_uc010irs.2_3'UTR	p.P467P	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	8	1518	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	467					Q2PPJ3|Q8NG51|Q9NV95	Silent	SNP	ENST00000264596.3	37	c.1401G>A	CCDS3828.1																																																																																				0.353	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1		NM_018248		35	51	0	0	0	0.009718	0	35	51		
TENM3	55714	broad.mit.edu	37	4	183713719	183713719	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:183713719G>A	ENST00000511685.1	+	26	6017	c.5894G>A	c.(5893-5895)aGa>aAa	p.R1965K	TENM3_ENST00000406950.2_Missense_Mutation_p.R1965K			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1965					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GATAGCACAAGAGTCAGTTTT	0.418																																						uc003ivd.1		NaN																	0					0						c.(5893-5895)AGA>AAA		odz, odd Oz/ten-m homolog 3							118.0	114.0	115.0					4																	183713719		1887	4118	6005	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183713719G>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5894G>A	4.37:g.183713719G>A	ENSP00000424226:p.Arg1965Lys						p.R1965K	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	25	5931	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	1965			Extracellular (Potential).|YD 10.		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.5894G>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	7.974	0.749729	0.15778	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.85955	-2.05;-2.05	4.74	4.74	0.60224	.	.	.	.	.	T	0.76111	0.3942	L	0.40543	1.245	0.53688	D	0.999979	P	0.42409	0.779	B	0.35607	0.206	T	0.76222	-0.3038	9	0.02654	T	1	.	18.268	0.90057	0.0:0.0:1.0:0.0	.	1965	Q9P273	TEN3_HUMAN	K	1965	ENSP00000424226:R1965K;ENSP00000385276:R1965K	ENSP00000385276:R1965K	R	+	2	0	ODZ3	183950713	1.000000	0.71417	0.471000	0.27229	0.939000	0.58152	7.774000	0.85478	2.608000	0.88229	0.591000	0.81541	AGA		0.418	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1				57	47	0	0	0	0.01441	0	57	47		
PLEKHG4B	153478	broad.mit.edu	37	5	169623	169623	+	Silent	SNP	C	C	T	rs369268321		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:169623C>T	ENST00000283426.6	+	12	2627	c.2577C>T	c.(2575-2577)caC>caT	p.H859H		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	859	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGAAGCTCCACGACTTCCACC	0.567																																						uc003jak.2		NaN																	0				skin(2)	2						c.(2575-2577)CAC>CAT		pleckstrin homology domain containing, family G		C		0,4406		0,0,2203	108.0	106.0	107.0		2577	-5.7	0.0	5		107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PLEKHG4B	NM_052909.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		859/1272	169623	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:169623C>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2577C>T	5.37:g.169623C>T							p.H859H	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	12	2627	+			859			DH.			Silent	SNP	ENST00000283426.6	37	c.2577C>T	CCDS34124.1																																																																																				0.567	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1		NM_052909		62	163	0	0	0	0.01441	0	62	163		
CDH9	1007	broad.mit.edu	37	5	26988259	26988259	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:26988259A>G	ENST00000231021.4	-	2	354	c.182T>C	c.(181-183)tTc>tCc	p.F61S		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	61	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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTCCAATAAGAAGAACTGATT	0.383																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NaN																	0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(181-183)TTC>TCC		cadherin 9, type 2 preproprotein							96.0	92.0	93.0					5																	26988259		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26988259A>G	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.182T>C	5.37:g.26988259A>G	ENSP00000231021:p.Phe61Ser					CDH9_uc010iug.2_Missense_Mutation_p.F61S	p.F61S	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			2	351	-			61			Extracellular (Potential).|Cadherin 1.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.182T>C	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.487218	0.84854	.	.	ENSG00000113100	ENST00000231021;ENST00000513289;ENST00000511822	T;T;T	0.00574	6.47;6.47;6.47	5.64	5.64	0.86602	Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.02304	0.0071	M	0.64080	1.96	0.58432	D	0.999992	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.975	T	0.66204	-0.5982	9	.	.	.	.	14.6681	0.68924	1.0:0.0:0.0:0.0	.	61;61	E7EPN0;Q9ULB4	.;CADH9_HUMAN	S	61	ENSP00000231021:F61S;ENSP00000426239:F61S;ENSP00000422538:F61S	.	F	-	2	0	CDH9	27024016	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.910000	0.92685	2.142000	0.66516	0.482000	0.46254	TTC		0.383	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1		NM_016279		14	34	0	0	0	0.007413	0	14	34		
DROSHA	29102	broad.mit.edu	37	5	31526792	31526792	+	Missense_Mutation	SNP	G	G	A	rs149389256	byFrequency	TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:31526792G>A	ENST00000511367.2	-	4	492	c.248C>T	c.(247-249)cCa>cTa	p.P83L	DROSHA_ENST00000344624.3_Missense_Mutation_p.P83L|DROSHA_ENST00000442743.1_Missense_Mutation_p.P83L|DROSHA_ENST00000513349.1_Missense_Mutation_p.P83L|DROSHA_ENST00000504361.1_5'Flank	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	83	Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGGCATGGGTGGGGGGAAGGG	0.577													G|||	4	0.000798722	0.0	0.0	5008	,	,		11910	0.0		0.004	False		,,,				2504	0.0					uc003jhg.2		NaN																	0					0						c.(247-249)CCA>CTA		ribonuclease III, nuclear isoform 1		G	LEU/PRO,LEU/PRO	10,3908		0,10,1949	29.0	33.0	32.0		248,248	5.4	0.9	5	dbSNP_134	32	55,8233		1,53,4090	yes	missense,missense	DROSHA	NM_001100412.1,NM_013235.4	98,98	1,63,6039	AA,AG,GG		0.6636,0.2552,0.5325	possibly-damaging,possibly-damaging	83/1338,83/1375	31526792	65,12141	1959	4144	6103	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31526792G>A	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.248C>T	5.37:g.31526792G>A	ENSP00000425979:p.Pro83Leu					RNASEN_uc003jhh.2_Missense_Mutation_p.P83L|RNASEN_uc003jhi.2_Missense_Mutation_p.P83L|RNASEN_uc010iui.1_Missense_Mutation_p.P74L	p.P83L	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN			4	607	-			83			Pro-rich.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.248C>T	CCDS47195.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	19.85	3.903500	0.72754	0.002552	0.006636	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188;ENST00000507438	T;T;T;T;T	0.66815	1.07;1.07;0.36;0.36;-0.23	5.41	5.41	0.78517	.	0.129572	0.52532	D	0.000071	T	0.66954	0.2842	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.87578	0.998;0.981;0.981	T	0.74100	-0.3774	10	0.54805	T	0.06	-8.0734	19.2155	0.93776	0.0:0.0:1.0:0.0	.	83;83;83	Q9NRR4-2;E7EMP9;Q9NRR4	.;.;RNC_HUMAN	L	83;83;83;83;76;76;83	ENSP00000425979:P83L;ENSP00000339845:P83L;ENSP00000409335:P83L;ENSP00000424161:P83L;ENSP00000430921:P83L	ENSP00000265075:P76L	P	-	2	0	DROSHA	31562549	1.000000	0.71417	0.949000	0.38748	0.989000	0.77384	6.402000	0.73260	2.535000	0.85469	0.655000	0.94253	CCA		0.577	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3		NM_013235		3	50	0	0	0	0.004672	0	3	50		
PAIP1	10605	broad.mit.edu	37	5	43527531	43527531	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:43527531C>G	ENST00000306846.3	-	11	1619	c.1387G>C	c.(1387-1389)Gaa>Caa	p.E463Q	PAIP1_ENST00000436644.2_Missense_Mutation_p.E384Q|PAIP1_ENST00000514514.1_Nonstop_Mutation_p.*352Y|PAIP1_ENST00000338972.4_Missense_Mutation_p.E351Q|RP11-159F24.5_ENST00000504277.1_RNA	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	463	PABPC1-interacting motif-1 (PAM1).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					TAAGCTTCTTCTATCTCTGGG	0.333																																						uc003job.2		NaN																	0				ovary(1)	1						c.(1387-1389)GAA>CAA		poly(A) binding protein interacting protein 1							72.0	68.0	69.0					5																	43527531		2201	4297	6498	SO:0001583	missense	10605				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity	g.chr5:43527531C>G	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.1387G>C	5.37:g.43527531C>G	ENSP00000302768:p.Glu463Gln					PAIP1_uc003joa.2_Missense_Mutation_p.E384Q|PAIP1_uc010ivp.2_Nonstop_Mutation_p.*352Y|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.E351Q	p.E463Q	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN			11	1634	-	Lung NSC(6;2.07e-05)		463			PABPC1-interacting motif-1 (PAM1).		A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	ENST00000306846.3	37	c.1387G>C	CCDS3947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.31|15.31	2.795758|2.795758	0.50208|0.50208	.|.	.|.	ENSG00000172239|ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000338972|ENST00000514514	T;T;T|.	0.35048|.	1.33;1.37;1.39|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.181912|.	0.47852|.	D|.	0.000218|.	T|.	0.58736|.	0.2143|.	L|L	0.53249|0.53249	1.67|1.67	0.09310|0.09310	N|N	1|1	D;D|.	0.61080|.	0.989;0.982|.	P;P|.	0.60345|.	0.828;0.873|.	T|.	0.52609|.	-0.8553|.	10|.	0.38643|.	T|.	0.18|.	-14.4641|-14.4641	19.6383|19.6383	0.95746|0.95746	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	463;384|.	Q9H074;Q9H074-2|.	PAIP1_HUMAN;.|.	Q|Y	463;384;351|352	ENSP00000302768:E463Q;ENSP00000387729:E384Q;ENSP00000339622:E351Q|.	ENSP00000302768:E463Q|.	E|X	-|-	1|3	0|2	PAIP1|PAIP1	43563288|43563288	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.257000|4.257000	0.58816|0.58816	2.631000|2.631000	0.89168|0.89168	0.655000|0.655000	0.94253|0.94253	GAA|TAG		0.333	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1		NM_006451		7	98	0	0	0	0.006214	0	7	98		
ISL1	3670	broad.mit.edu	37	5	50685565	50685565	+	Silent	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:50685565G>C	ENST00000230658.7	+	4	1149	c.564G>C	c.(562-564)ctG>ctC	p.L188L	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Silent_p.L188L	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	188					atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GGACTGTGCTGAACGAGAAGC	0.667																																						uc003jor.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(562-564)CTG>CTC		islet-1							58.0	64.0	62.0					5																	50685565		2203	4300	6503	SO:0001819	synonymous_variant	3670				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:50685565G>C	BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.564G>C	5.37:g.50685565G>C							p.L188L	NM_002202	NP_002193	P61371	ISL1_HUMAN			4	1112	+		Lung NSC(810;0.000845)|Breast(144;0.0411)	188			Homeobox.		P20663|P47894	Silent	SNP	ENST00000230658.7	37	c.564G>C	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	G	9.930	1.214576	0.22289	.	.	ENSG00000016082	ENST00000505475	.	.	.	5.82	1.26	0.21427	.	.	.	.	.	T	0.59945	0.2231	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58787	-0.7575	5	0.87932	D	0	.	5.9876	0.19442	0.0772:0.4128:0.3663:0.1436	.	.	.	.	Q	135	.	ENSP00000421737:E135Q	E	+	1	0	ISL1	50721322	0.992000	0.36948	1.000000	0.80357	0.995000	0.86356	0.206000	0.17375	0.288000	0.22398	0.650000	0.86243	GAA		0.667	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3		NM_002202		9	43	0	0	0	0.004482	0	9	43		
BDP1	55814	broad.mit.edu	37	5	70818248	70818248	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:70818248G>C	ENST00000358731.4	+	23	5387	c.5124G>C	c.(5122-5124)caG>caC	p.Q1708H	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1708					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CAACAGATCAGAGCAAGGAAG	0.388																																						uc003kbp.1		NaN																	0				skin(2)	2						c.(5122-5124)CAG>CAC		transcription factor-like nuclear regulator							126.0	129.0	128.0					5																	70818248		1862	4098	5960	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70818248G>C	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.5124G>C	5.37:g.70818248G>C	ENSP00000351575:p.Gln1708His					BDP1_uc003kbo.2_Missense_Mutation_p.Q1708H|BDP1_uc003kbq.1_Intron	p.Q1708H	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	23	5387	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1708					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.5124G>C	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	9.846	1.192258	0.21954	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.10763	2.84	5.21	1.89	0.25635	.	0.415386	0.20630	N	0.088604	T	0.22475	0.0542	L	0.57536	1.79	0.24357	N	0.994898	B;D	0.71674	0.203;0.998	B;D	0.67382	0.074;0.951	T	0.02190	-1.1198	10	0.87932	D	0	.	7.0327	0.24977	0.1881:0.1496:0.6623:0.0	.	1708;1708	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	H	1708;1288	ENSP00000351575:Q1708H	ENSP00000351575:Q1708H	Q	+	3	2	BDP1	70854004	0.006000	0.16342	0.026000	0.17262	0.117000	0.20001	0.058000	0.14301	0.552000	0.29026	0.555000	0.69702	CAG		0.388	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2		NM_018429		15	98	0	0	0	0.00499	0	15	98		
BDP1	55814	broad.mit.edu	37	5	70820129	70820129	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:70820129G>C	ENST00000358731.4	+	25	6014	c.5751G>C	c.(5749-5751)caG>caC	p.Q1917H	BDP1_ENST00000380675.2_Missense_Mutation_p.Q54H	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1917					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TTTCTGCTCAGATTGAGGAAA	0.383																																						uc003kbp.1		NaN																	0				skin(2)	2						c.(5749-5751)CAG>CAC		transcription factor-like nuclear regulator							107.0	107.0	107.0					5																	70820129		1833	4075	5908	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70820129G>C	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.5751G>C	5.37:g.70820129G>C	ENSP00000351575:p.Gln1917His					BDP1_uc003kbo.2_Missense_Mutation_p.Q1917H|BDP1_uc003kbq.1_RNA	p.Q1917H	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	25	6014	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1917					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.5751G>C	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430603	0.43122	.	.	ENSG00000145734	ENST00000358731;ENST00000451951;ENST00000380675;ENST00000545546	T;T	0.22743	1.94;1.94	5.69	-0.76	0.11041	.	0.236869	0.34460	N	0.003944	T	0.17534	0.0421	M	0.64997	1.995	0.25539	N	0.987193	P;P	0.50272	0.933;0.552	B;B	0.41666	0.363;0.135	T	0.15492	-1.0435	10	0.87932	D	0	.	4.6172	0.12432	0.3471:0.0:0.4241:0.2288	.	1917;1917	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	H	1917;1497;54;54	ENSP00000351575:Q1917H;ENSP00000370050:Q54H	ENSP00000351575:Q1917H	Q	+	3	2	BDP1	70855885	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	0.544000	0.23253	-0.122000	0.11766	0.655000	0.94253	CAG		0.383	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2		NM_018429		8	51	0	0	0	0.008291	0	8	51		
MAN2A1	4124	broad.mit.edu	37	5	109026163	109026163	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:109026163C>G	ENST00000261483.4	+	1	1097	c.45C>G	c.(43-45)ttC>ttG	p.F15L	CTC-332L22.1_ENST00000606424.1_lincRNA	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	15					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GTGCGATCTTCTGTGTGGTGA	0.582																																						uc003kou.1		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(43-45)TTC>TTG		mannosidase, alpha, class 2A, member 1							206.0	177.0	187.0					5																	109026163		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109026163C>G		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.45C>G	5.37:g.109026163C>G	ENSP00000261483:p.Phe15Leu					MAN2A1_uc003kot.1_RNA	p.F15L	NM_002372	NP_002363	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	1	1008	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	15			Helical; Signal-anchor for type II membrane protein; (Potential).		Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.45C>G	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254411	0.59212	.	.	ENSG00000112893	ENST00000261483	T	0.77877	-1.13	4.45	1.6	0.23607	.	0.000000	0.85682	D	0.000000	T	0.69672	0.3137	L	0.46741	1.465	0.51482	D	0.999927	B	0.23854	0.092	B	0.27262	0.078	T	0.65689	-0.6107	10	0.62326	D	0.03	-5.4309	9.84	0.40993	0.0:0.744:0.0:0.256	.	15	Q16706	MA2A1_HUMAN	L	15	ENSP00000261483:F15L	ENSP00000261483:F15L	F	+	3	2	MAN2A1	109054062	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.820000	0.39032	0.409000	0.25649	0.563000	0.77884	TTC		0.582	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1				15	5	0	0	0	0.006122	0	15	5		
CAMK4	814	broad.mit.edu	37	5	110710590	110710590	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:110710590C>T	ENST00000282356.4	+	3	681	c.283C>T	c.(283-285)Cgc>Tgc	p.R95C	CAMK4_ENST00000512453.1_Missense_Mutation_p.R95C	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	95	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.R95C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		AGTTCTTCTTCGCCTCTCACA	0.393																																						uc011cvj.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(3)|lung(2)	5						c.(283-285)CGC>TGC		calcium/calmodulin-dependent protein kinase IV							97.0	91.0	93.0					5																	110710590		2202	4300	6502	SO:0001583	missense	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110710590C>T	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.283C>T	5.37:g.110710590C>T	ENSP00000282356:p.Arg95Cys					CAMK4_uc003kpf.2_Missense_Mutation_p.R95C|CAMK4_uc010jbv.2_Intron	p.R95C	NM_001744	NP_001735	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	4	382	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	95			Protein kinase.		D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	c.283C>T	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369036	0.82463	.	.	ENSG00000152495	ENST00000508074;ENST00000512453;ENST00000282356	T;T;T	0.67698	-0.28;-0.28;-0.28	5.77	4.9	0.64082	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	0.79131	0.4394	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.81464	-0.0921	10	0.72032	D	0.01	.	15.3044	0.73982	0.1408:0.8592:0.0:0.0	.	95	Q16566	KCC4_HUMAN	C	95	ENSP00000426940:R95C;ENSP00000422634:R95C;ENSP00000282356:R95C	ENSP00000282356:R95C	R	+	1	0	CAMK4	110738489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.657000	0.61490	1.433000	0.47394	0.650000	0.86243	CGC		0.393	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2		NM_001744		9	33	0	0	0	0.006214	0	9	33		
ACSL6	23305	broad.mit.edu	37	5	131307298	131307298	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:131307298G>A	ENST00000379240.1	-	14	1457	c.1304C>T	c.(1303-1305)gCa>gTa	p.A435V	ACSL6_ENST00000379246.1_Missense_Mutation_p.A446V|ACSL6_ENST00000379272.2_Missense_Mutation_p.A450V|ACSL6_ENST00000544770.1_Missense_Mutation_p.A344V|ACSL6_ENST00000296869.4_Missense_Mutation_p.A460V|ACSL6_ENST00000379244.1_Missense_Mutation_p.A435V|ACSL6_ENST00000379249.3_Missense_Mutation_p.A435V|ACSL6_ENST00000543479.1_Missense_Mutation_p.A435V|ACSL6_ENST00000379255.1_Missense_Mutation_p.A360V|ACSL6_ENST00000379264.2_Missense_Mutation_p.A460V|ACSL6_ENST00000431707.1_Missense_Mutation_p.A415V|ACSL6_ENST00000357096.1_Missense_Mutation_p.A360V			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	435					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCTGGGGCTGCTCCAGTAAC	0.522																																						uc010jdo.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1303-1305)GCA>GTA		acyl-CoA synthetase long-chain family member 6							62.0	51.0	54.0					5																	131307298		2203	4300	6503	SO:0001583	missense	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131307298G>A	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1304C>T	5.37:g.131307298G>A	ENSP00000368542:p.Ala435Val					ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Missense_Mutation_p.A460V|ACSL6_uc003kvy.1_Missense_Mutation_p.A460V|ACSL6_uc003kwb.2_Missense_Mutation_p.A425V|ACSL6_uc003kvz.1_Missense_Mutation_p.A360V|ACSL6_uc003kwa.1_Missense_Mutation_p.A446V|ACSL6_uc003kvw.1_Missense_Mutation_p.A81V|ACSL6_uc010jdn.1_Missense_Mutation_p.A450V	p.A435V	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		14	1387	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	435			Cytoplasmic (Potential).		J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37	c.1304C>T		.	.	.	.	.	.	.	.	.	.	G	31	5.087743	0.94100	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479	T;T;T;T;T;T;T;T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58	5.94	5.94	0.96194	AMP-dependent synthetase/ligase (1);	0.043870	0.85682	N	0.000000	T	0.46151	0.1378	M	0.93197	3.39	0.80722	D	1	P;D;D;P;P;P;P	0.55172	0.901;0.963;0.97;0.92;0.681;0.902;0.902	P;P;P;P;B;P;P	0.55923	0.652;0.549;0.787;0.764;0.412;0.549;0.549	T	0.58228	-0.7673	10	0.87932	D	0	.	20.4237	0.99064	0.0:0.0:1.0:0.0	.	435;450;425;435;360;460;460	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	V	435;460;450;360;360;460;446;435;344;435;415;435	ENSP00000368551:A435V;ENSP00000368566:A460V;ENSP00000368574:A450V;ENSP00000349608:A360V;ENSP00000368557:A360V;ENSP00000296869:A460V;ENSP00000368548:A446V;ENSP00000368546:A435V;ENSP00000445154:A344V;ENSP00000368542:A435V;ENSP00000413329:A415V;ENSP00000442124:A435V	ENSP00000296869:A460V	A	-	2	0	ACSL6	131335197	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	9.779000	0.99018	2.834000	0.97654	0.650000	0.86243	GCA		0.522	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1		NM_015256		19	3	0	0	0	0.00278	0	19	3		
ANKHD1	54882	broad.mit.edu	37	5	139917031	139917031	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:139917031G>A	ENST00000360839.2	+	31	7239	c.7085G>A	c.(7084-7086)cGa>cAa	p.R2362Q	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R2362Q|ANKHD1_ENST00000297183.6_Missense_Mutation_p.R2362Q|ANKHD1_ENST00000544120.1_Missense_Mutation_p.R686Q	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2362						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)			AGTCAAGATCGAAAGATACCT	0.547																																						uc003lfs.1		NaN																	0				ovary(6)	6						c.(7084-7086)CGA>CAA		ANKHD1-EIF4EBP3 protein							101.0	97.0	98.0					5																	139917031		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139917031G>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.7085G>A	5.37:g.139917031G>A	ENSP00000354085:p.Arg2362Gln					ANKHD1_uc003lfr.2_Missense_Mutation_p.R2362Q|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.R1118Q|ANKHD1_uc003lfw.2_Missense_Mutation_p.R1017Q|ANKHD1_uc010jfl.2_Missense_Mutation_p.R738Q|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.R516Q	p.R2362Q	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		31	7209	+			2362					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.7085G>A	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.679124|5.679124	0.96764|0.96764	.|.	.|.	ENSG00000131503|ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996;ENSG00000254996	ENST00000421706|ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000433049;ENST00000544120;ENST00000532219;ENST00000437495	.|T;T;T;T;T;T;T	.|0.73258	.|-0.7;-0.73;1.2;1.2;0.83;-0.73;0.27	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83372|0.83372	0.5240|0.5240	M|M	0.62723|0.62723	1.935|1.935	0.58432|0.58432	D|D	0.99999|0.99999	.|D;D;D;D;D;D	.|0.89917	.|0.999;0.998;1.0;1.0;0.999;0.997	.|D;D;D;D;D;D	.|0.85130	.|0.992;0.992;0.997;0.988;0.978;0.98	T|T	0.81495|0.81495	-0.0907|-0.0907	5|10	.|0.46703	.|T	.|0.11	.|.	20.3754|20.3754	0.98918|0.98918	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|686;809;686;2379;2362;2362	.|Q8IWG5;Q9H059;F6WFL0;E9PF56;Q8IWZ2;Q8IWZ3	.|.;.;.;.;.;ANKH1_HUMAN	K|Q	20|2362;2362;2379;1035;901;686;2362;390	.|ENSP00000354085:R2362Q;ENSP00000297183:R2362Q;ENSP00000393204:R1035Q;ENSP00000390034:R901Q;ENSP00000437687:R686Q;ENSP00000432016:R2362Q;ENSP00000396882:R390Q	.|ENSP00000396882:R390Q	E|R	+|+	1|2	0|0	ANKHD1|ANKHD1-EIF4EBP3;ANKHD1	139897215|139897215	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.416000|9.416000	0.97383|0.97383	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	GAA|CGA		0.547	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1		NM_017747		44	27	0	0	0	0.01441	0	44	27		
PCDHB7	56129	broad.mit.edu	37	5	140553317	140553317	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:140553317C>T	ENST00000231137.3	+	1	1075	c.901C>T	c.(901-903)Ctt>Ttt	p.L301F		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	301	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)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCTGGCAGTCTTCATCTTAA	0.408																																						uc003lit.2		NaN																	0		p.L301P(1)		ovary(4)|central_nervous_system(1)|skin(1)	6						c.(901-903)CTT>TTT		protocadherin beta 7 precursor							82.0	87.0	85.0					5																	140553317		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553317C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.901C>T	5.37:g.140553317C>T	ENSP00000231137:p.Leu301Phe						p.L301F	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1075	+			301			Extracellular (Potential).|Cadherin 3.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.901C>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	8.329	0.826064	0.16749	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.67698	-0.28	4.61	1.08	0.20341	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.70228	0.3200	L	0.58810	1.83	0.09310	N	1	P	0.49447	0.924	P	0.55455	0.776	T	0.58891	-0.7556	9	0.87932	D	0	.	6.4432	0.21861	0.4064:0.3533:0.2404:0.0	.	301	Q9Y5E2	PCDB7_HUMAN	F	301;84	ENSP00000231137:L301F	ENSP00000231137:L301F	L	+	1	0	PCDHB7	140533501	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	-0.418000	0.07080	0.443000	0.26582	-0.175000	0.13238	CTT		0.408	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2		NM_018940		73	12	0	0	0	0.01441	0	73	12		
PCDHGB3	56102	broad.mit.edu	37	5	140750463	140750463	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:140750463C>T	ENST00000576222.1	+	1	633	c.502C>T	c.(502-504)Cag>Tag	p.Q168*	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	168	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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATTCGCTGCAGCAGTACTA	0.512																																						uc003ljw.1		NaN																	0					0						c.(502-504)CAG>TAG		protocadherin gamma subfamily B, 3 isoform 1							209.0	208.0	208.0					5																	140750463		2052	4191	6243	SO:0001587	stop_gained	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140750463C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.502C>T	5.37:g.140750463C>T	ENSP00000461862:p.Gln168*					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_uc011dat.1_Nonsense_Mutation_p.Q168*	p.Q168*	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	502	+			168			Extracellular (Potential).|Cadherin 2.		A7E229|Q9Y5C7	Nonsense_Mutation	SNP	ENST00000576222.1	37	c.502C>T	CCDS58980.1																																																																																				0.512	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1		NM_018924		9	214	0	0	0	0.001855	0	9	214		
FAT2	2196	broad.mit.edu	37	5	150925437	150925437	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:150925437C>A	ENST00000261800.5	-	9	5263	c.5251G>T	c.(5251-5253)Gaa>Taa	p.E1751*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1751	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGTCATTTTCATCAATTATG	0.408																																						uc003lue.3		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(5251-5253)GAA>TAA		FAT tumor suppressor 2 precursor							155.0	157.0	156.0					5																	150925437		2202	4300	6502	SO:0001587	stop_gained	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150925437C>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.5251G>T	5.37:g.150925437C>A	ENSP00000261800:p.Glu1751*					GM2A_uc011dcs.1_Intron	p.E1751*	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	5264	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1751			Cadherin 15.|Extracellular (Potential).		O75091|Q9NSR7	Nonsense_Mutation	SNP	ENST00000261800.5	37	c.5251G>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	45	11.770078	0.99601	.	.	ENSG00000086570	ENST00000261800	.	.	.	5.25	5.25	0.73442	.	0.099811	0.43260	D	0.000596	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	18.8457	0.92205	0.0:1.0:0.0:0.0	.	.	.	.	X	1751	.	ENSP00000261800:E1751X	E	-	1	0	FAT2	150905630	1.000000	0.71417	0.979000	0.43373	0.941000	0.58515	7.755000	0.85180	2.446000	0.82766	0.467000	0.42956	GAA		0.408	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1		NM_001447		18	147	1	0	5.35267e-07	0.007413	5.53201e-07	18	147		
PANK3	79646	broad.mit.edu	37	5	167991021	167991021	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:167991021C>T	ENST00000239231.6	-	4	1001	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	PANK3_ENST00000520504.1_Intron	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	229					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		TCAAAACTTTCACAGCCAGTC	0.383																																						uc003lzz.1		NaN																	0				ovary(1)	1						c.(685-687)GAA>AAA		pantothenate kinase 3							122.0	137.0	132.0					5																	167991021		2203	4299	6502	SO:0001583	missense	79646				coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity	g.chr5:167991021C>T	AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.685G>A	5.37:g.167991021C>T	ENSP00000239231:p.Glu229Lys						p.E229K	NM_024594	NP_078870	Q9H999	PANK3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)	4	985	-	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	229					D3DQL1|Q53FJ9|Q7RTX4	Missense_Mutation	SNP	ENST00000239231.6	37	c.685G>A	CCDS4368.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020409	0.35606	.	.	ENSG00000120137	ENST00000239231	D	0.99474	-5.97	4.73	4.73	0.59995	.	0.165535	0.53938	D	0.000048	D	0.97111	0.9056	N	0.20610	0.595	0.40527	D	0.980895	B	0.18863	0.031	B	0.22880	0.042	D	0.96013	0.9003	10	0.02654	T	1	-19.7368	17.0909	0.86622	0.0:1.0:0.0:0.0	.	229	Q9H999	PANK3_HUMAN	K	229	ENSP00000239231:E229K	ENSP00000239231:E229K	E	-	1	0	PANK3	167923599	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	1.410000	0.34691	2.346000	0.79739	0.467000	0.42956	GAA		0.383	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252793.2		NM_024594		25	173	0	0	0	0.013726	0	25	173		
ZNF354A	6940	broad.mit.edu	37	5	178152427	178152427	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:178152427C>G	ENST00000335815.2	-	4	403	c.206G>C	c.(205-207)gGa>gCa	p.G69A		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	69	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|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)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		GGGATCTTCTCCTTGCTGCAA	0.493																																						uc003mjj.2		NaN																	0				ovary(2)|skin(1)	3						c.(205-207)GGA>GCA		zinc finger protein 354A							141.0	133.0	136.0					5																	178152427		2203	4300	6503	SO:0001583	missense	6940				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178152427C>G	AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"""Zinc fingers, C2H2-type"", ""-"""	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.206G>C	5.37:g.178152427C>G	ENSP00000337122:p.Gly69Ala						p.G69A	NM_005649	NP_005640	O60765	Z354A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)	4	404	-	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	69			KRAB.		Q9UNJ8	Missense_Mutation	SNP	ENST00000335815.2	37	c.206G>C	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694380	0.68386	.	.	ENSG00000169131	ENST00000335815;ENST00000520331	T;T	0.00976	5.48;5.48	3.25	3.25	0.37280	Krueppel-associated box (3);	.	.	.	.	T	0.06645	0.0170	M	0.88704	2.975	0.30584	N	0.762167	D	0.76494	0.999	D	0.83275	0.996	T	0.00628	-1.1637	9	0.72032	D	0.01	-9.7048	12.7582	0.57347	0.0:1.0:0.0:0.0	.	69	O60765	Z354A_HUMAN	A	69	ENSP00000337122:G69A;ENSP00000429675:G69A	ENSP00000337122:G69A	G	-	2	0	ZNF354A	178085033	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.191000	0.50981	2.117000	0.64856	0.561000	0.74099	GGA		0.493	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1		NM_005649		21	133	0	0	0	0.008361	0	21	133		
RUFY1	80230	broad.mit.edu	37	5	178977723	178977723	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:178977723G>A	ENST00000319449.4	+	1	165	c.153G>A	c.(151-153)cgG>cgA	p.R51R	RUFY1_ENST00000377001.2_Silent_p.R51R	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	51					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGACCTGCGGAGCGCAACGA	0.756										HNSCC(44;0.11)																												uc003mka.1		NaN																	0				ovary(4)|breast(1)	5						c.(151-153)CGG>CGA		RUN and FYVE domain-containing 1 isoform a							3.0	4.0	4.0					5																	178977723		1554	3680	5234	SO:0001819	synonymous_variant	80230				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	g.chr5:178977723G>A	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"""Zinc fingers, FYVE domain containing"""	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.153G>A	5.37:g.178977723G>A		HNSCC(44;0.11)					p.R51R	NM_025158	NP_079434	Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	153	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	51					Q59FF3|Q71S93|Q9H6I3	Silent	SNP	ENST00000319449.4	37	c.153G>A	CCDS4445.2																																																																																				0.756	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2		NM_001040451		7	1	0	0	0	0.008291	0	7	1		
DTNBP1	84062	broad.mit.edu	37	6	15523430	15523430	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:15523430G>C	ENST00000344537.5	-	10	1004	c.832C>G	c.(832-834)Cag>Gag	p.Q278E	DTNBP1_ENST00000355917.3_Missense_Mutation_p.Q279E|DTNBP1_ENST00000462989.2_Missense_Mutation_p.Q122E	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	278	Dysbindin.				actin cytoskeleton reorganization (GO:0031532)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|neuron projection morphogenesis (GO:0048812)|platelet dense granule organization (GO:0060155)|positive regulation of gene expression (GO:0010628)|positive regulation of neurotransmitter secretion (GO:0001956)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of dopamine secretion (GO:0014059)	axon (GO:0030424)|BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|growth cone (GO:0030426)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)|synaptic vesicle membrane (GO:0030672)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			ATCTCATTCTGACAGGTACTG	0.488									Hermansky-Pudlak syndrome																													uc003nbm.2		NaN																	0					0						c.(832-834)CAG>GAG		dystrobrevin binding protein 1 isoform a							115.0	124.0	121.0					6																	15523430		2203	4300	6503	SO:0001583	missense	84062	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding	g.chr6:15523430G>C	AF394226	CCDS4534.1, CCDS4535.1, CCDS75404.1, CCDS75405.1	6p22.3	2013-09-27			ENSG00000047579	ENSG00000047579		"""Biogenesis of lysosomal organelles complex-1 subunits"""	17328	protein-coding gene	gene with protein product	"""dysbindin-1"", ""biogenesis of lysosomal organelles complex-1, subunit 8"""	607145				11316798	Standard	NM_032122		Approved	Dysbindin, My031, HPS7, DBND, BLOC1S8	uc003nbm.3	Q96EV8	OTTHUMG00000014295	ENST00000344537.5:c.832C>G	6.37:g.15523430G>C	ENSP00000341680:p.Gln278Glu					DTNBP1_uc003nbl.2_Missense_Mutation_p.Q197E|DTNBP1_uc003nbn.2_RNA|DTNBP1_uc003nbo.2_RNA	p.Q278E	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Epithelial(50;0.211)		10	1003	-	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	278			Dysbindin.		A8K3V3|Q5THY3|Q5THY4|Q96NV2|Q9H0U2|Q9H3J5	Missense_Mutation	SNP	ENST00000344537.5	37	c.832C>G	CCDS4534.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.269344	0.23221	.	.	ENSG00000047579	ENST00000344537;ENST00000462989;ENST00000355917;ENST00000397306;ENST00000509674	T;T;T;T	0.28895	1.59;1.59;1.59;1.6	5.27	4.37	0.52481	.	0.756003	0.11785	N	0.529763	T	0.11965	0.0291	L	0.53249	1.67	0.09310	N	1	B	0.28783	0.222	B	0.31390	0.129	T	0.39057	-0.9632	10	0.02654	T	1	.	15.1063	0.72324	0.0:0.2861:0.7139:0.0	.	278	Q96EV8	DTBP1_HUMAN	E	278;122;279;197;95	ENSP00000341680:Q278E;ENSP00000427239:Q122E;ENSP00000348183:Q279E;ENSP00000421797:Q95E	ENSP00000341680:Q278E	Q	-	1	0	DTNBP1	15631409	0.002000	0.14202	0.003000	0.11579	0.897000	0.52465	1.238000	0.32707	1.163000	0.42636	0.561000	0.74099	CAG		0.488	DTNBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000039933.2		NM_032122		4	185	0	0	0	0.001168	0	4	185		
HIST1H3H	8357	broad.mit.edu	37	6	27778040	27778040	+	Missense_Mutation	SNP	C	C	G	rs548121472		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:27778040C>G	ENST00000369163.2	+	1	199	c.189C>G	c.(187-189)atC>atG	p.I63M	HIST1H2BL_ENST00000377401.2_5'Flank	NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	63					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)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						AGCTGCTGATCAGAAAGCTGC	0.617																																						uc003njm.2		NaN																	0				ovary(1)	1						c.(187-189)ATC>ATG		histone cluster 1, H3h							64.0	61.0	62.0					6																	27778040		2203	4300	6503	SO:0001583	missense	8357				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27778040C>G	Z83735	CCDS4627.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000203813	ENSG00000278828		"""Histones / Replication-dependent"""	4775	protein-coding gene	gene with protein product		602818	"""H3 histone family, member K"", ""histone 1, H3h"""	H3FK		9439656, 12408966	Standard	NM_003536		Approved	H3/k, H3F1K	uc003njm.3	P68431	OTTHUMG00000014483	ENST00000369163.2:c.189C>G	6.37:g.27778040C>G	ENSP00000358160:p.Ile63Met					HIST1H2BL_uc003njl.2_5'Flank	p.I63M	NM_003536	NP_003527	P68431	H31_HUMAN			1	199	+			63					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000369163.2	37	c.189C>G	CCDS4627.1	.	.	.	.	.	.	.	.	.	.	.	10.80	1.452612	0.26074	.	.	ENSG00000203813	ENST00000369163	T	0.51325	0.71	4.33	2.53	0.30540	.	.	.	.	.	T	0.35128	0.0921	.	.	.	0.29584	N	0.848931	.	.	.	.	.	.	T	0.21381	-1.0247	6	0.87932	D	0	.	10.1271	0.42656	0.0:0.8314:0.0:0.1686	.	.	.	.	M	63	ENSP00000358160:I63M	ENSP00000358160:I63M	I	+	3	3	HIST1H3H	27886019	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	3.689000	0.54706	0.529000	0.28599	-0.140000	0.14226	ATC		0.617	HIST1H3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040151.1		NM_003536		4	71	0	0	0	0.001168	0	4	71		
PRRC2A	7916	broad.mit.edu	37	6	31602332	31602332	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:31602332G>C	ENST00000376033.2	+	20	5167	c.4933G>C	c.(4933-4935)Gaa>Caa	p.E1645Q	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E1645Q	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1645	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GGCTGGCACAGAAGTGAGTGA	0.582																																						uc003nvb.3		NaN																	0					0						c.(4933-4935)GAA>CAA		HLA-B associated transcript-2							31.0	28.0	29.0					6																	31602332		1510	2708	4218	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31602332G>C	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.4933G>C	6.37:g.31602332G>C	ENSP00000365201:p.Glu1645Gln					BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.E1645Q	p.E1645Q	NM_080686	NP_542417	P48634	PRC2A_HUMAN			20	5182	+			1645			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.4933G>C	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.361828	0.41801	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01918	4.56;4.56	5.41	5.41	0.78517	.	0.000000	0.53938	D	0.000051	T	0.05547	0.0146	L	0.46157	1.445	0.44515	D	0.997466	D	0.63880	0.993	D	0.72982	0.979	T	0.30238	-0.9985	10	0.87932	D	0	-16.7135	16.2348	0.82365	0.0:0.0:1.0:0.0	.	1645	P48634	PRC2A_HUMAN	Q	1639;1628;1645;1645;870	ENSP00000365175:E1645Q;ENSP00000365201:E1645Q	ENSP00000365175:E1645Q	E	+	1	0	PRRC2A	31710311	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.880000	0.63107	2.826000	0.97356	0.561000	0.74099	GAA		0.582	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1		NM_080686		20	3	0	0	0	0.00278	0	20	3		
EHMT2	10919	broad.mit.edu	37	6	31855876	31855876	+	Missense_Mutation	SNP	G	G	C	rs377615321		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:31855876G>C	ENST00000375537.4	-	13	1693	c.1687C>G	c.(1687-1689)Cct>Gct	p.P563A	EHMT2_ENST00000375530.4_Missense_Mutation_p.P529A|EHMT2_ENST00000395728.3_Missense_Mutation_p.P620A|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.P586A	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	563					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGGGGTGCAGGAGCTGCAGTG	0.652																																						uc003nxz.1		NaN																	0				ovary(1)	1						c.(1687-1689)CCT>GCT		euchromatic histone-lysine N-methyltransferase 2							15.0	16.0	15.0					6																	31855876		1503	2695	4198	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31855876G>C	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.1687C>G	6.37:g.31855876G>C	ENSP00000364687:p.Pro563Ala					EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Missense_Mutation_p.P354A|EHMT2_uc011don.1_Missense_Mutation_p.P586A|EHMT2_uc003nya.1_Missense_Mutation_p.P529A	p.P563A	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN			13	1697	-			563					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.1687C>G	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	8.753	0.921680	0.17982	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.70631	-0.5;-0.38;-0.33;-0.49	5.5	4.63	0.57726	.	0.284310	0.28760	N	0.014231	T	0.48750	0.1517	N	0.19112	0.55	0.34489	D	0.704795	B;P;P;B	0.49559	0.011;0.925;0.877;0.296	B;P;B;B	0.47915	0.014;0.561;0.358;0.041	T	0.55082	-0.8196	10	0.41790	T	0.15	.	12.9725	0.58520	0.0798:0.0:0.9202:0.0	.	586;529;563;377	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	A	620;586;529;563;377	ENSP00000379078:P620A;ENSP00000364678:P586A;ENSP00000364680:P529A;ENSP00000364687:P563A	ENSP00000364678:P586A	P	-	1	0	EHMT2	31963855	1.000000	0.71417	0.154000	0.22540	0.312000	0.27988	7.101000	0.76997	1.310000	0.45006	0.555000	0.69702	CCT		0.652	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5		NM_006709		3	22	0	0	0	0.004672	0	3	22		
PBX2	5089	broad.mit.edu	37	6	32156277	32156277	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:32156277G>A	ENST00000375050.4	-	3	570	c.300C>T	c.(298-300)ctC>ctT	p.L100L	XXbac-BPG300A18.13_ENST00000559458.1_RNA	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	100					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						TCCGAATGCTGAGGCCTAGCA	0.617																																						uc003oav.1		NaN																	0				ovary(1)	1						c.(298-300)CTC>CTT		pre-B-cell leukemia homeobox 2							20.0	22.0	21.0					6																	32156277		2203	4298	6501	SO:0001819	synonymous_variant	5089						transcription factor binding	g.chr6:32156277G>A		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.300C>T	6.37:g.32156277G>A						PBX2_uc003oaw.2_Silent_p.L100L	p.L100L	NM_002586	NP_002577	P40425	PBX2_HUMAN			3	571	-			100					A2BFJ2	Silent	SNP	ENST00000375050.4	37	c.300C>T	CCDS4748.1																																																																																				0.617	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4				25	5	0	0	0	0.009535	0	25	5		
REV3L	5980	broad.mit.edu	37	6	111697267	111697267	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:111697267G>T	ENST00000358835.3	-	14	2745	c.2291C>A	c.(2290-2292)gCt>gAt	p.A764D	REV3L_ENST00000435970.1_Missense_Mutation_p.A686D|REV3L_ENST00000368805.1_Missense_Mutation_p.A764D|REV3L_ENST00000368802.3_Missense_Mutation_p.A764D			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	764					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)		ACTTTCATCAGCAGTGCTATT	0.368								DNA polymerases (catalytic subunits)																														uc003puy.3		NaN																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(2290-2292)GCT>GAT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							118.0	121.0	120.0					6																	111697267		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.chr6:111697267G>T	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.2291C>A	6.37:g.111697267G>T	ENSP00000351697:p.Ala764Asp					REV3L_uc003pux.3_Missense_Mutation_p.A686D|REV3L_uc003puz.3_Missense_Mutation_p.A686D	p.A764D	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	13	2614	-		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)	764					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.2291C>A	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	4.365	0.067280	0.08388	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01538	4.89;4.89;4.89;4.79	5.43	3.55	0.40652	Ribonuclease H-like (1);	0.407493	0.23889	N	0.043576	T	0.00496	0.0016	N	0.14661	0.345	0.24662	N	0.99346	B	0.24823	0.112	B	0.21708	0.036	T	0.52830	-0.8523	10	0.62326	D	0.03	-9.7908	5.7997	0.18408	0.0739:0.138:0.6452:0.1429	.	764	O60673	DPOLZ_HUMAN	D	764;764;764;686	ENSP00000357792:A764D;ENSP00000357795:A764D;ENSP00000351697:A764D;ENSP00000402003:A686D	ENSP00000351697:A764D	A	-	2	0	REV3L	111803960	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	2.432000	0.44784	2.549000	0.85964	0.563000	0.77884	GCT		0.368	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1		NM_002912		96	17	1	0	1.14069e-49	0.01441	1.23961e-49	96	17		
REV3L	5980	broad.mit.edu	37	6	111697396	111697396	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:111697396G>C	ENST00000358835.3	-	14	2616	c.2162C>G	c.(2161-2163)tCt>tGt	p.S721C	REV3L_ENST00000435970.1_Missense_Mutation_p.S643C|REV3L_ENST00000368805.1_Missense_Mutation_p.S721C|REV3L_ENST00000368802.3_Missense_Mutation_p.S721C			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	721					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)		ATTTCCTTCAGAGGATACTTT	0.353								DNA polymerases (catalytic subunits)																														uc003puy.3		NaN																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(2161-2163)TCT>TGT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							69.0	75.0	73.0					6																	111697396		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.chr6:111697396G>C	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.2162C>G	6.37:g.111697396G>C	ENSP00000351697:p.Ser721Cys					REV3L_uc003pux.3_Missense_Mutation_p.S643C|REV3L_uc003puz.3_Missense_Mutation_p.S643C	p.S721C	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	13	2485	-		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)	721					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.2162C>G	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067934	0.36470	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01665	4.79;4.79;4.79;4.7	5.34	4.46	0.54185	Ribonuclease H-like (1);	0.360279	0.26662	N	0.023160	T	0.01421	0.0046	L	0.27053	0.805	0.30315	N	0.788151	D	0.71674	0.998	P	0.57324	0.818	T	0.49000	-0.8984	10	0.66056	D	0.02	-10.9448	9.5701	0.39422	0.0744:0.1435:0.7821:0.0	.	721	O60673	DPOLZ_HUMAN	C	721;721;721;643	ENSP00000357792:S721C;ENSP00000357795:S721C;ENSP00000351697:S721C;ENSP00000402003:S643C	ENSP00000351697:S721C	S	-	2	0	REV3L	111804089	1.000000	0.71417	0.923000	0.36655	0.827000	0.46813	3.522000	0.53480	1.229000	0.43630	0.563000	0.77884	TCT		0.353	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1		NM_002912		50	7	0	0	0	0.01441	0	50	7		
REV3L	5980	broad.mit.edu	37	6	111697611	111697611	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:111697611G>A	ENST00000358835.3	-	14	2401	c.1947C>T	c.(1945-1947)atC>atT	p.I649I	REV3L_ENST00000435970.1_Silent_p.I571I|REV3L_ENST00000368805.1_Silent_p.I649I|REV3L_ENST00000368802.3_Silent_p.I649I			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	649					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)		ATACTGGGAGGATCTCTTTCT	0.313								DNA polymerases (catalytic subunits)																														uc003puy.3		NaN																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(1945-1947)ATC>ATT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							55.0	58.0	57.0					6																	111697611		2202	4293	6495	SO:0001819	synonymous_variant	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.chr6:111697611G>A	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.1947C>T	6.37:g.111697611G>A						REV3L_uc003pux.3_Silent_p.I571I|REV3L_uc003puz.3_Silent_p.I571I	p.I649I	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	13	2270	-		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)	649					O43214|Q5TC33	Silent	SNP	ENST00000358835.3	37	c.1947C>T	CCDS5091.2																																																																																				0.313	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1		NM_002912		23	2	0	0	0	0.00333	0	23	2		
LAMA2	3908	broad.mit.edu	37	6	129777521	129777521	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:129777521G>A	ENST00000421865.2	+	48	6798	c.6749G>A	c.(6748-6750)gGa>gAa	p.G2250E		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2250	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)		GCCCTGGATGGACCCAAAGCC	0.478																																						uc003qbn.2		NaN																	0				ovary(8)|breast(1)|skin(1)	10						c.(6748-6750)GGA>GAA		laminin alpha 2 subunit isoform a precursor							191.0	165.0	173.0					6																	129777521		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.chr6:129777521G>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.6749G>A	6.37:g.129777521G>A	ENSP00000400365:p.Gly2250Glu					LAMA2_uc003qbo.2_Missense_Mutation_p.G2250E	p.G2250E	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	47	6854	+			2250			Laminin G-like 1.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.6749G>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	31	5.078387	0.94000	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.52754	0.65	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	T	0.52773	0.1755	L	0.38175	1.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.45116	-0.9283	9	.	.	.	.	19.4354	0.94792	0.0:0.0:1.0:0.0	.	2251;2250	A6NF00;P24043	.;LAMA2_HUMAN	E	2250;2249;2250;268	ENSP00000400365:G2250E	.	G	+	2	0	LAMA2	129819214	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.074000	0.93998	2.596000	0.87737	0.557000	0.71058	GGA		0.478	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1				104	26	0	0	0	0.01441	0	104	26		
CARD11	84433	broad.mit.edu	37	7	2978453	2978453	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:2978453T>A	ENST00000396946.4	-	7	1280	c.877A>T	c.(877-879)Agc>Tgc	p.S293C		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	293					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCTGGCAGGCTGCGCTTCCCG	0.632			Mis		DLBCL																																	uc003smv.2		NaN		Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50						c.(877-879)AGC>TGC		caspase recruitment domain family, member 11							60.0	52.0	55.0					7																	2978453		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2978453T>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.877A>T	7.37:g.2978453T>A	ENSP00000380150:p.Ser293Cys						p.S293C	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	7	1281	-		Ovarian(82;0.0115)	293			Potential.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.877A>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	T	11.22	1.573559	0.28092	.	.	ENSG00000198286	ENST00000396946	T	0.34472	1.36	5.72	5.72	0.89469	.	0.313591	0.39985	N	0.001219	T	0.29783	0.0744	L	0.40543	1.245	0.44719	D	0.997715	B	0.02656	0.0	B	0.04013	0.001	T	0.09079	-1.0691	10	0.56958	D	0.05	-46.9582	9.7754	0.40616	0.0:0.0798:0.0:0.9202	.	293	Q9BXL7	CAR11_HUMAN	C	293	ENSP00000380150:S293C	ENSP00000380150:S293C	S	-	1	0	CARD11	2944979	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	2.335000	0.43929	2.173000	0.68751	0.482000	0.46254	AGC		0.632	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4		NM_032415		4	84	0	0	0	0.000602	0	4	84		
ACTB	60	broad.mit.edu	37	7	5568878	5568878	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:5568878C>G	ENST00000331789.5	-	3	468	c.277G>C	c.(277-279)Gag>Cag	p.E93Q	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	93					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)		ACACGCAGCTCATTGTAGAAG	0.617																																						uc003sos.3		NaN																	0					0						c.(277-279)GAG>CAG		beta actin							59.0	60.0	60.0					7																	5568878		2202	4300	6502	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.chr7:5568878C>G	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.277G>C	7.37:g.5568878C>G	ENSP00000349960:p.Glu93Gln					ACTB_uc003sor.3_5'UTR|ACTB_uc003sot.3_Missense_Mutation_p.E93Q|ACTB_uc003soq.3_5'UTR|ACTB_uc010ksy.2_Intron	p.E93Q	NM_001101	NP_001092	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	2	313	-		Ovarian(82;0.0606)	93					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	c.277G>C	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276753	0.59758	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713;ENST00000432588;ENST00000443528;ENST00000417101	D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000008	D	0.97235	0.9096	M	0.82323	2.585	0.48185	D	0.999606	P	0.41929	0.765	P	0.62885	0.908	D	0.97960	1.0337	10	0.87932	D	0	.	15.8267	0.78711	0.0:1.0:0.0:0.0	.	93	P60709	ACTB_HUMAN	Q	93;93;65;12;93;93;96	ENSP00000349960:E93Q;ENSP00000407473:E93Q;ENSP00000393951:E93Q;ENSP00000399487:E96Q	ENSP00000440549:E12Q	E	-	1	0	ACTB	5535404	1.000000	0.71417	0.982000	0.44146	0.949000	0.60115	7.731000	0.84895	2.312000	0.78011	0.563000	0.77884	GAG		0.617	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4		NM_001101		5	94	0	0	0	0.001168	0	5	94		
DNAH11	8701	broad.mit.edu	37	7	21934388	21934388	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:21934388C>T	ENST00000409508.3	+	78	12929	c.12898C>T	c.(12898-12900)Cgt>Tgt	p.R4300C	DNAH11_ENST00000328843.6_Missense_Mutation_p.R4307C	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4307					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						TCGGGAAATACGTATATCACT	0.368									Kartagener syndrome																													uc003svc.2		NaN																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(12919-12921)CGT>TGT		dynein, axonemal, heavy chain 11							100.0	95.0	97.0					7																	21934388		1863	4112	5975	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.chr7:21934388C>T	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.12898C>T	7.37:g.21934388C>T	ENSP00000475939:p.Arg4300Cys						p.R4307C	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			79	12950	+			4307					Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.12919C>T		.	.	.	.	.	.	.	.	.	.	C	14.77	2.633151	0.47049	.	.	ENSG00000105877	ENST00000328843	T	0.10763	2.84	5.6	5.6	0.85130	Dynein heavy chain (1);	0.104170	0.64402	D	0.000007	T	0.32436	0.0829	.	.	.	0.54753	D	0.999983	D	0.89917	1.0	D	0.72075	0.976	T	0.01323	-1.1385	9	0.62326	D	0.03	.	13.8487	0.63483	0.0:0.9251:0.0:0.0749	.	4307	Q96DT5	DYH11_HUMAN	C	4307	ENSP00000330671:R4307C	ENSP00000330671:R4307C	R	+	1	0	DNAH11	21900913	0.000000	0.05858	0.617000	0.29091	0.201000	0.24016	0.345000	0.19979	2.648000	0.89879	0.655000	0.94253	CGT		0.368	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		NM_003777		11	10	0	0	0	0.008291	0	11	10		
MALSU1	115416	broad.mit.edu	37	7	23340550	23340550	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:23340550G>C	ENST00000466681.1	+	2	502	c.349G>C	c.(349-351)Gaa>Caa	p.E117Q		NM_138446.1	NP_612455.1	Q96EH3	MASU1_HUMAN	mitochondrial assembly of ribosomal large subunit 1	117					negative regulation of mitochondrial translation (GO:0070130)|ribosomal large subunit biogenesis (GO:0042273)	mitochondrion (GO:0005739)											GGTTCCTCCAGAAATGAGATA	0.408																																						uc003swd.1		NaN																	0					0						c.(349-351)GAA>CAA		hypothetical protein LOC115416							209.0	191.0	197.0					7																	23340550		2203	4300	6503	SO:0001583	missense	115416					mitochondrion		g.chr7:23340550G>C	BC012331	CCDS5381.1	7p15.3	2013-05-24	2012-02-20	2012-02-20	ENSG00000156928	ENSG00000156928			21721	protein-coding gene	gene with protein product		614624	"""chromosome 7 open reading frame 30"""	C7orf30		22238376, 22238375	Standard	NM_138446		Approved	mtRsfA	uc003swd.1	Q96EH3	OTTHUMG00000128443	ENST00000466681.1:c.349G>C	7.37:g.23340550G>C	ENSP00000419370:p.Glu117Gln						p.E117Q	NM_138446	NP_612455	Q96EH3	CG030_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		2	381	+			117					A4D154	Missense_Mutation	SNP	ENST00000466681.1	37	c.349G>C	CCDS5381.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132221	0.56828	.	.	ENSG00000156928	ENST00000466681	.	.	.	5.65	5.65	0.86999	.	0.316274	0.33813	N	0.004535	T	0.47078	0.1426	N	0.24115	0.695	0.35876	D	0.828589	B	0.31256	0.316	B	0.36885	0.235	T	0.52997	-0.8500	8	.	.	.	-5.0652	15.2327	0.73404	0.0:0.14:0.86:0.0	.	117	Q96EH3	CG030_HUMAN	Q	117	.	.	E	+	1	0	C7orf30	23307075	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.349000	0.52217	2.659000	0.90383	0.655000	0.94253	GAA		0.408	MALSU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250241.2		NM_138446		112	133	0	0	0	0.01441	0	112	133		
PDE1C	5137	broad.mit.edu	37	7	31890295	31890295	+	Missense_Mutation	SNP	C	C	T	rs199785741		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:31890295C>T	ENST00000396191.1	-	8	1266	c.811G>A	c.(811-813)Gag>Aag	p.E271K	PDE1C_ENST00000396184.3_Missense_Mutation_p.E271K|PDE1C_ENST00000321453.7_Missense_Mutation_p.E271K|PDE1C_ENST00000396193.1_Missense_Mutation_p.E331K|PDE1C_ENST00000396182.2_Missense_Mutation_p.E271K	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	271	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.E271Q(4)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CCGGTATGCTCGTAGTCATGG	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		18475	0.001		0.0	False		,,,				2504	0.0					uc003tcm.1		NaN																	4	Substitution - Missense(4)		lung(4)	skin(3)|central_nervous_system(1)	4						c.(811-813)GAG>AAG		phosphodiesterase 1C							210.0	186.0	194.0					7																	31890295		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31890295C>T	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.811G>A	7.37:g.31890295C>T	ENSP00000379494:p.Glu271Lys					PDE1C_uc003tcn.1_Missense_Mutation_p.E271K|PDE1C_uc003tco.1_Missense_Mutation_p.E331K|PDE1C_uc003tcr.2_Missense_Mutation_p.E271K|PDE1C_uc003tcs.2_Missense_Mutation_p.E271K	p.E271K	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		8	1280	-			271			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.811G>A	CCDS55099.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	37	6.110991	0.97291	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.91	5.91	0.95273	Metal-dependent phosphohydrolase, HD domain (1);-cyclic nucleotide phosphodiesterase, conserved site (1);5&apos (3);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (3);	0.000000	0.85682	D	0.000000	D	0.92103	0.7497	M	0.82433	2.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.985;0.98;0.945	D	0.92343	0.5883	10	0.87932	D	0	.	19.9008	0.96985	0.0:1.0:0.0:0.0	.	271;331;271	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	K	331;271;271;271;271	ENSP00000379496:E331K;ENSP00000379494:E271K;ENSP00000318105:E271K;ENSP00000379487:E271K;ENSP00000379485:E271K	ENSP00000318105:E271K	E	-	1	0	PDE1C	31856820	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.818000	0.86416	2.805000	0.96524	0.651000	0.88453	GAG		0.443	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1				11	156	0	0	0	0.003163	0	11	156		
EPDR1	54749	broad.mit.edu	37	7	37960519	37960519	+	5'UTR	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:37960519C>T	ENST00000199448.4	+	0	357				EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000423717.1_5'UTR|EPDR1_ENST00000425345.1_5'Flank|EPDR1_ENST00000559325.1_Missense_Mutation_p.S113L	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1						cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						GGCTTGCCCTCGGGCCGGGGA	0.736																																						uc003tfp.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(337-339)TCG>TTG		ependymin related protein 1 precursor							12.0	16.0	15.0					7																	37960519		2180	4274	6454	SO:0001623	5_prime_UTR_variant	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37960519C>T	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.-23C>T	7.37:g.37960519C>T						EPDR1_uc003tfq.2_Missense_Mutation_p.S113L|EPDR1_uc010kxh.2_5'Flank	p.S113L	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN			1	357	+			Error:Variant_position_missing_in_Q9UM22_after_alignment					A8K4C0|C9JYS3|Q06BL0|Q99M77	Missense_Mutation	SNP	ENST00000199448.4	37	c.338C>T	CCDS5454.2	.	.	.	.	.	.	.	.	.	.	C	14.60	2.585228	0.46110	.	.	ENSG00000086289	ENST00000199448;ENST00000423717	.	.	.	3.82	-7.63	0.01290	.	8.575480	0.01056	N	0.004555	T	0.15955	0.0384	N	0.08118	0	0.09310	N	0.999996	B	0.14438	0.01	B	0.08055	0.003	T	0.16217	-1.0410	9	0.87932	D	0	.	2.4489	0.04513	0.2324:0.1491:0.436:0.1825	.	113	A4D1W8	.	L	113;87	.	ENSP00000199448:S113L	S	+	2	0	EPDR1	37927044	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.895000	0.04118	-1.700000	0.01414	0.467000	0.42956	TCG		0.736	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3		NM_017549		12	11	0	0	0	0.013537	0	12	11		
DDC	1644	broad.mit.edu	37	7	50531017	50531017	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:50531017G>A	ENST00000444124.2	-	14	1555	c.1355C>T	c.(1354-1356)tCt>tTt	p.S452F	DDC_ENST00000431062.1_Missense_Mutation_p.S359F|DDC_ENST00000426377.1_Missense_Mutation_p.S374F|DDC_ENST00000357936.5_Missense_Mutation_p.S452F	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	452					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	CACCGTGCGAGAACAGATGGC	0.537																																						uc003tpf.3		NaN																	0				ovary(2)	2						c.(1354-1356)TCT>TTT		dopa decarboxylase (aromatic L-amino acid	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						131.0	115.0	120.0					7																	50531017		2203	4300	6503	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50531017G>A		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.1355C>T	7.37:g.50531017G>A	ENSP00000403644:p.Ser452Phe					DDC_uc010kza.2_Missense_Mutation_p.S367F|DDC_uc003tpg.3_Missense_Mutation_p.S452F	p.S452F	NM_000790	NP_000781	P20711	DDC_HUMAN			14	1441	-	Glioma(55;0.08)|all_neural(89;0.245)		452					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.1355C>T	CCDS5511.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.74|18.74	3.688353|3.688353	0.68271|0.68271	.|.	.|.	ENSG00000132437|ENSG00000132437	ENST00000430300|ENST00000357936;ENST00000431062;ENST00000426377;ENST00000444124	.|T;T;T;T	.|0.40225	.|1.04;1.04;1.04;1.04	5.44|5.44	5.44|5.44	0.79542|0.79542	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.344320	.|0.33401	.|N	.|0.004942	T|T	0.73063|0.73063	0.3539|0.3539	M|M	0.91818|0.91818	3.245|3.245	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.73708	.|0.981;0.981	T|T	0.79820|0.79820	-0.1642|-0.1642	5|10	.|0.87932	.|D	.|0	-20.2819|-20.2819	19.2638|19.2638	0.93979|0.93979	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|452;452	.|Q53Y41;P20711	.|.;DDC_HUMAN	F|F	333|452;359;374;452	.|ENSP00000350616:S452F;ENSP00000399184:S359F;ENSP00000395069:S374F;ENSP00000403644:S452F	.|ENSP00000350616:S452F	L|S	-|-	1|2	0|0	DDC|DDC	50498511|50498511	1.000000|1.000000	0.71417|0.71417	0.825000|0.825000	0.32803|0.32803	0.239000|0.239000	0.25481|0.25481	7.389000|7.389000	0.79806|0.79806	2.540000|2.540000	0.85666|0.85666	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.537	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1				30	30	0	0	0	0.003271	0	30	30		
COBL	23242	broad.mit.edu	37	7	51095966	51095966	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:51095966C>T	ENST00000265136.7	-	10	2992	c.2827G>A	c.(2827-2829)Gat>Aat	p.D943N	COBL_ENST00000395542.2_Missense_Mutation_p.D1025N	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	943					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ACTGCCAAATCTTCCCCGTGG	0.562																																					NSCLC(189;2119 2138 12223 30818 34679)	uc003tpr.3		NaN																	0				skin(3)|ovary(2)	5						c.(2827-2829)GAT>AAT		cordon-bleu homolog							74.0	67.0	69.0					7																	51095966		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51095966C>T	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2827G>A	7.37:g.51095966C>T	ENSP00000265136:p.Asp943Asn					COBL_uc003tps.2_Missense_Mutation_p.D1000N|COBL_uc011kcl.1_Missense_Mutation_p.D943N|COBL_uc003tpp.3_Missense_Mutation_p.D729N|COBL_uc003tpq.3_Missense_Mutation_p.D884N|COBL_uc003tpo.3_Missense_Mutation_p.D485N	p.D943N	NM_015198	NP_056013	O75128	COBL_HUMAN			10	3012	-	Glioma(55;0.08)		943					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.2827G>A	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569157	0.28003	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.11821	2.75;2.75;2.74;2.74	5.3	1.18	0.20946	.	0.938930	0.08704	N	0.905941	T	0.06554	0.0168	N	0.14661	0.345	0.09310	N	1	B;B;B;B;P	0.39311	0.257;0.257;0.167;0.372;0.667	B;B;B;B;B	0.33254	0.098;0.098;0.045;0.098;0.16	T	0.35822	-0.9773	10	0.24483	T	0.36	.	6.0176	0.19611	0.0:0.5016:0.2617:0.2367	.	943;1000;943;1025;485	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	N	943;835;828;1025	ENSP00000265136:D943N;ENSP00000401204:D835N;ENSP00000413498:D828N;ENSP00000378912:D1025N	ENSP00000265136:D943N	D	-	1	0	COBL	51063460	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	0.908000	0.28545	0.210000	0.20664	0.557000	0.71058	GAT		0.562	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1		NM_015198		4	93	0	0	0	0.000602	0	4	93		
SEMA3D	223117	broad.mit.edu	37	7	84671602	84671602	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:84671602C>G	ENST00000284136.6	-	8	905		c.e8-1		SEMA3D_ENST00000484038.1_5'Flank	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D						cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CTACATCATTCTGACATGAAA	0.373																																					Ovarian(63;442 1191 17318 29975 31528)	uc003uic.2		NaN																	0				ovary(3)|large_intestine(2)	5						c.e8-1		semaphorin 3D precursor							184.0	175.0	178.0					7																	84671602		2203	4300	6503	SO:0001630	splice_region_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84671602C>G	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.862-1G>C	7.37:g.84671602C>G						SEMA3D_uc010led.2_Splice_Site_p.N288_splice|SEMA3D_uc003uib.2_5'Flank	p.N288_splice	NM_152754	NP_689967	O95025	SEM3D_HUMAN			8	902	-								A6NK46|Q6UW77|Q8NCQ1	Splice_Site	SNP	ENST00000284136.6	37	c.862_splice	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699686	0.68501	.	.	ENSG00000153993	ENST00000284136	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8309	0.96634	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEMA3D	84509538	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	7.487000	0.81328	2.684000	0.91462	0.650000	0.86243	.		0.373	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2		NM_152754	Intron	86	97	0	0	0	0.01441	0	86	97		
ADAM22	53616	broad.mit.edu	37	7	87760697	87760697	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:87760697G>C	ENST00000265727.7	+	11	1018	c.939G>C	c.(937-939)atG>atC	p.M313I	ADAM22_ENST00000315984.7_Missense_Mutation_p.M313I|ADAM22_ENST00000439864.1_Missense_Mutation_p.M313I|ADAM22_ENST00000398209.3_Missense_Mutation_p.M313I|ADAM22_ENST00000398204.4_Missense_Mutation_p.M313I|ADAM22_ENST00000398201.4_Missense_Mutation_p.M313I			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	313	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.M313I(3)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GTGAGTTTATGAAATACAGGA	0.363																																						uc003ujn.2		NaN																	3	Substitution - Missense(3)		lung(3)	ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(937-939)ATG>ATC		ADAM metallopeptidase domain 22 isoform 1							110.0	106.0	108.0					7																	87760697		1844	4096	5940	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87760697G>C	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.939G>C	7.37:g.87760697G>C	ENSP00000265727:p.Met313Ile					ADAM22_uc003ujj.1_Missense_Mutation_p.M313I|ADAM22_uc003ujk.1_Missense_Mutation_p.M313I|ADAM22_uc003ujl.1_Missense_Mutation_p.M313I|ADAM22_uc003ujm.2_Missense_Mutation_p.M313I|ADAM22_uc003ujo.2_Missense_Mutation_p.M313I|ADAM22_uc003ujp.1_Missense_Mutation_p.M365I	p.M313I	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		11	1018	+	Esophageal squamous(14;0.00202)		313			Peptidase M12B.|Extracellular (Potential).		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.939G>C	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726492	0.89298	.	.	ENSG00000008277	ENST00000398204;ENST00000439864;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34;2.34;2.34	5.48	5.48	0.80851	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.43077	0.1231	M	0.70595	2.14	0.80722	D	1	D;D;D;D;D	0.67145	0.99;0.987;0.99;0.992;0.996	D;D;D;D;D	0.85130	0.965;0.922;0.953;0.993;0.997	T	0.05178	-1.0901	10	0.28530	T	0.3	.	19.7142	0.96108	0.0:0.0:1.0:0.0	.	365;313;313;313;313	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2;E7EPF1	.;.;ADA22_HUMAN;.;.	I	313;313;313;313;313;313;280	ENSP00000381262:M313I;ENSP00000391334:M313I;ENSP00000381260:M313I;ENSP00000265727:M313I;ENSP00000315900:M313I;ENSP00000381267:M313I;ENSP00000381261:M280I	ENSP00000265727:M313I	M	+	3	0	ADAM22	87598633	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.456000	0.80751	2.738000	0.93877	0.591000	0.81541	ATG		0.363	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2		NM_021723		3	88	0	0	0	0.000602	0	3	88		
ANKIB1	54467	broad.mit.edu	37	7	91972349	91972349	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:91972349G>C	ENST00000265742.3	+	6	1175	c.799G>C	c.(799-801)Gag>Cag	p.E267Q		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	267							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGGGACAGGGAGAAATTACT	0.383																																						uc003ulw.2		NaN																	0				lung(1)	1						c.(799-801)GAG>CAG		ankyrin repeat and IBR domain containing 1							123.0	116.0	118.0					7																	91972349		1891	4111	6002	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:91972349G>C	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.799G>C	7.37:g.91972349G>C	ENSP00000265742:p.Glu267Gln						p.E267Q	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		6	1175	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		267					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.799G>C	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	G	31	5.068357	0.93950	.	.	ENSG00000001629	ENST00000265742	T	0.14266	2.52	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.42494	0.1205	M	0.81239	2.535	0.58432	D	0.999997	D	0.89917	1.0	D	0.74348	0.983	T	0.34625	-0.9821	10	0.66056	D	0.02	.	19.4938	0.95064	0.0:0.0:1.0:0.0	.	267	Q9P2G1	AKIB1_HUMAN	Q	267	ENSP00000265742:E267Q	ENSP00000265742:E267Q	E	+	1	0	ANKIB1	91810285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.691000	0.91804	0.650000	0.86243	GAG		0.383	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1				10	155	0	0	0	0.008291	0	10	155		
MET	4233	broad.mit.edu	37	7	116398529	116398529	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:116398529C>G	ENST00000318493.6	+	9	2306	c.2119C>G	c.(2119-2121)Ctt>Gtt	p.L707V	MET_ENST00000397752.3_Missense_Mutation_p.L707V|MET_ENST00000436117.2_Missense_Mutation_p.L707V			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AAACAGTATTCTTGAATGTTA	0.328			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													uc003vij.2		NaN		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	papillary renal|head-neck squamous cell 		0				upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159						c.(2119-2121)CTT>GTT		met proto-oncogene isoform b precursor							97.0	88.0	91.0					7																	116398529		1826	4079	5905	SO:0001583	missense	4233	Hereditary_Papillary_Renal_Carcinoma_(type_1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116398529C>G	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2119C>G	7.37:g.116398529C>G	ENSP00000317272:p.Leu707Val					MET_uc010lkh.2_Missense_Mutation_p.L707V|MET_uc011kng.1_Missense_Mutation_p.L707V|MET_uc011knh.1_Missense_Mutation_p.L707V|MET_uc011kni.1_Missense_Mutation_p.L707V|MET_uc011knj.1_Missense_Mutation_p.L277V	p.L707V	NM_000245	NP_000236	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		9	2306	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	707			Extracellular (Potential).|IPT/TIG 2.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.2119C>G	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756604	0.31137	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.77750	-1.12;-1.12;-1.12	5.37	5.37	0.77165	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.205376	0.43416	D	0.000566	T	0.68155	0.2970	L	0.37507	1.11	0.80722	D	1	B;B;B;B;B	0.24920	0.114;0.009;0.088;0.057;0.07	B;B;B;B;B	0.27887	0.032;0.035;0.054;0.084;0.078	T	0.65932	-0.6048	10	0.51188	T	0.08	.	9.2263	0.37410	0.2495:0.6067:0.1438:0.0	.	707;707;707;707;707	B5A929;E7EQ94;B5A930;P08581-2;P08581	.;.;.;.;MET_HUMAN	V	707	ENSP00000380860:L707V;ENSP00000317272:L707V;ENSP00000410980:L707V	ENSP00000317272:L707V	L	+	1	0	MET	116185765	0.921000	0.31238	0.998000	0.56505	0.874000	0.50279	1.337000	0.33862	2.690000	0.91761	0.460000	0.39030	CTT		0.328	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3				4	111	0	0	0	0.009096	0	4	111		
MET	4233	broad.mit.edu	37	7	116398545	116398545	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:116398545C>G	ENST00000318493.6	+	9	2322	c.2135C>G	c.(2134-2136)cCa>cGa	p.P712R	MET_ENST00000397752.3_Missense_Mutation_p.P712R|MET_ENST00000436117.2_Missense_Mutation_p.P712R			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TGTTATACCCCAGCCCAAACC	0.338			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													uc003vij.2		NaN		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	papillary renal|head-neck squamous cell 		0				upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159						c.(2134-2136)CCA>CGA		met proto-oncogene isoform b precursor							100.0	91.0	94.0					7																	116398545		1832	4083	5915	SO:0001583	missense	4233	Hereditary_Papillary_Renal_Carcinoma_(type_1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116398545C>G	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2135C>G	7.37:g.116398545C>G	ENSP00000317272:p.Pro712Arg					MET_uc010lkh.2_Missense_Mutation_p.P712R|MET_uc011kng.1_Missense_Mutation_p.P712R|MET_uc011knh.1_Missense_Mutation_p.P712R|MET_uc011kni.1_Missense_Mutation_p.P712R|MET_uc011knj.1_Missense_Mutation_p.P282R	p.P712R	NM_000245	NP_000236	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		9	2322	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	712			Extracellular (Potential).|IPT/TIG 2.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.2135C>G	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146718	0.77888	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	D;D;D	0.86164	-2.08;-2.08;-2.08	5.37	5.37	0.77165	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93527	0.7934	M	0.76002	2.32	0.80722	D	1	D;B;D;D;D	0.89917	1.0;0.388;0.984;0.999;1.0	D;B;D;D;D	0.91635	0.999;0.439;0.941;0.984;0.988	D	0.93830	0.7127	10	0.87932	D	0	.	19.4734	0.94973	0.0:1.0:0.0:0.0	.	712;712;712;712;712	B5A929;E7EQ94;B5A930;P08581-2;P08581	.;.;.;.;MET_HUMAN	R	712	ENSP00000380860:P712R;ENSP00000317272:P712R;ENSP00000410980:P712R	ENSP00000317272:P712R	P	+	2	0	MET	116185781	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.571000	0.67404	2.690000	0.91761	0.460000	0.39030	CCA		0.338	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3				4	123	0	0	0	0.001168	0	4	123		
CPED1	79974	broad.mit.edu	37	7	120906763	120906763	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:120906763C>T	ENST00000310396.5	+	20	3001	c.2534C>T	c.(2533-2535)tCa>tTa	p.S845L		NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	845						endoplasmic reticulum (GO:0005783)											AATTTCAGATCACGTCCCCTA	0.403																																						uc003vjq.3		NaN																	0				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(2533-2535)TCA>TTA		hypothetical protein LOC79974 isoform 1							154.0	134.0	141.0					7																	120906763		2203	4300	6503	SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120906763C>T		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2534C>T	7.37:g.120906763C>T	ENSP00000309772:p.Ser845Leu						p.S845L	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			20	2981	+	all_neural(327;0.117)		845					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.2534C>T	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578090	0.86645	.	.	ENSG00000106034	ENST00000310396	T	0.18960	2.18	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.50309	0.1608	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.42481	-0.9449	10	0.52906	T	0.07	.	20.1432	0.98067	0.0:1.0:0.0:0.0	.	845	A4D0V7	CG058_HUMAN	L	845	ENSP00000309772:S845L	ENSP00000309772:S845L	S	+	2	0	C7orf58	120693999	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.001000	0.76297	2.769000	0.95229	0.561000	0.74099	TCA		0.403	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1		NM_024913		5	87	0	0	0	0.001984	0	5	87		
AKR1B10	57016	broad.mit.edu	37	7	134216707	134216707	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:134216707G>C	ENST00000359579.4	+	3	602	c.282G>C	c.(280-282)gaG>gaC	p.E94D	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	94					cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						AAGCCTTTGAGAAGACCCTCA	0.468																																						uc003vrr.2		NaN																	0				skin(5)	5						c.(280-282)GAG>GAC		aldo-keto reductase family 1, member B10							148.0	141.0	144.0					7																	134216707		2203	4297	6500	SO:0001583	missense	57016				cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	g.chr7:134216707G>C	AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"""Aldo-keto reductases"""	382	protein-coding gene	gene with protein product	"""aldose reductase-like 1"", ""aldo-keto reductase family 1, member B11 (aldose reductase-like)"", ""aldose reductase-like peptide"", ""aldose reductase-related protein"", ""small intestine reductase"""	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.282G>C	7.37:g.134216707G>C	ENSP00000352584:p.Glu94Asp						p.E94D	NM_020299	NP_064695	O60218	AK1BA_HUMAN			3	602	+			94					A4D1P1|O75890|Q6FHF3|Q8IWZ1	Missense_Mutation	SNP	ENST00000359579.4	37	c.282G>C	CCDS5832.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040230	0.35989	.	.	ENSG00000198074	ENST00000359579	T	0.18502	2.21	4.44	4.44	0.53790	NADP-dependent oxidoreductase domain (3);	0.315829	0.34362	N	0.004031	T	0.12732	0.0309	N	0.12920	0.275	0.48135	D	0.999597	B	0.14438	0.01	B	0.18263	0.021	T	0.08785	-1.0705	10	0.72032	D	0.01	.	16.465	0.84076	0.0:0.0:1.0:0.0	.	94	O60218	AK1BA_HUMAN	D	94	ENSP00000352584:E94D	ENSP00000352584:E94D	E	+	3	2	AKR1B10	133867247	1.000000	0.71417	0.935000	0.37517	0.061000	0.15899	5.100000	0.64560	2.160000	0.67779	0.556000	0.70494	GAG		0.468	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339615.1		NM_020299		8	136	0	0	0	0.004482	0	8	136		
CUL1	8454	broad.mit.edu	37	7	148484180	148484180	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:148484180G>A	ENST00000325222.4	+	13	1726	c.1447G>A	c.(1447-1449)Gat>Aat	p.D483N	CUL1_ENST00000602748.1_Missense_Mutation_p.D483N|CUL1_ENST00000409469.1_Missense_Mutation_p.D483N	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	483					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)		p.D483N(1)		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)			TGCAAGTGACGATGCCGAAGC	0.448																																						uc010lpg.2		NaN																	1	Substitution - Missense(1)		central_nervous_system(1)	lung(1)	1						c.(1447-1449)GAT>AAT		cullin 1							86.0	79.0	81.0					7																	148484180		2203	4300	6503	SO:0001583	missense	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.chr7:148484180G>A	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.1447G>A	7.37:g.148484180G>A	ENSP00000326804:p.Asp483Asn					CUL1_uc003wey.2_Missense_Mutation_p.D483N|CUL1_uc003wez.2_Missense_Mutation_p.D373N|CUL1_uc003wfa.2_Missense_Mutation_p.D144N	p.D483N	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		13	1973	+	Melanoma(164;0.15)		483					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.1447G>A	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309777	0.81247	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.78246	-1.16;-1.16	5.57	5.57	0.84162	Cullin, N-terminal (1);Cullin homology (3);	0.045609	0.85682	D	0.000000	D	0.89708	0.6793	M	0.88450	2.955	0.80722	D	1	D;P	0.69078	0.997;0.74	D;B	0.63703	0.917;0.369	D	0.91108	0.4920	10	0.72032	D	0.01	-2.0485	19.557	0.95354	0.0:0.0:1.0:0.0	.	410;483	E7EWR0;Q13616	.;CUL1_HUMAN	N	483;483;441;410	ENSP00000387160:D483N;ENSP00000326804:D483N	ENSP00000326804:D483N	D	+	1	0	CUL1	148115113	1.000000	0.71417	0.951000	0.38953	0.444000	0.32077	9.565000	0.98154	2.630000	0.89119	0.655000	0.94253	GAT		0.448	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1		NM_003592		47	41	0	0	0	0.01441	0	47	41		
KCNH2	3757	broad.mit.edu	37	7	150649632	150649632	+	Missense_Mutation	SNP	C	C	T	rs267601413		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:150649632C>T	ENST00000262186.5	-	6	1839	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	KCNH2_ENST00000392968.2_Missense_Mutation_p.E384K|KCNH2_ENST00000330883.4_Missense_Mutation_p.E140K|KCNH2_ENST00000430723.3_Missense_Mutation_p.E480K	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	480					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	ACCACCTCCTCGTTGGCATTG	0.597																																					GBM(137;110 1844 13671 20123 45161)	uc003wic.2		NaN																	0		p.E480E(1)		skin(3)|ovary(1)	4						c.(1438-1440)GAG>AAG		voltage-gated potassium channel, subfamily H,	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						143.0	126.0	132.0					7																	150649632		2203	4300	6503	SO:0001583	missense	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150649632C>T	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1438G>A	7.37:g.150649632C>T	ENSP00000262186:p.Glu480Lys					KCNH2_uc003wib.2_Missense_Mutation_p.E140K|KCNH2_uc011kux.1_Missense_Mutation_p.E384K|KCNH2_uc003wid.2_Missense_Mutation_p.E140K|KCNH2_uc003wie.2_Missense_Mutation_p.E480K	p.E480K	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	6	1451	-	all_neural(206;0.219)		480			Cytoplasmic (Potential).		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	c.1438G>A	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	C	35	5.424739	0.96111	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41	4.8	4.8	0.61643	Ion transport (1);	0.114714	0.64402	D	0.000019	D	0.93772	0.8009	L	0.37697	1.125	0.52099	D	0.999949	D;D;P;D;P	0.71674	0.998;0.994;0.651;0.989;0.946	P;P;B;P;P	0.60415	0.771;0.769;0.294;0.874;0.587	D	0.94644	0.7833	10	0.87932	D	0	.	15.3692	0.74548	0.0:1.0:0.0:0.0	.	384;480;140;480;140	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	K	140;384;480;140;480	ENSP00000328531:E140K;ENSP00000376695:E384K;ENSP00000262186:E480K;ENSP00000387657:E480K	ENSP00000262186:E480K	E	-	1	0	KCNH2	150280565	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.660000	0.83776	2.233000	0.73108	0.549000	0.68633	GAG		0.597	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2		NM_000238		7	121	0	0	0	0.004482	0	7	121		
GALNTL5	168391	broad.mit.edu	37	7	151699831	151699831	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:151699831G>A	ENST00000392800.2	+	6	945	c.691G>A	c.(691-693)Gag>Aag	p.E231K	GALNTL5_ENST00000431418.2_Missense_Mutation_p.E231K|GALNTL5_ENST00000483959.1_3'UTR	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	231	Catalytic subdomain A.				spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CAGCCACTGTGAGGTGAACAG	0.502																																						uc003wkp.2		NaN																	0				ovary(2)	2						c.(691-693)GAG>AAG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							85.0	80.0	82.0					7																	151699831		2203	4300	6503	SO:0001583	missense	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151699831G>A	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.691G>A	7.37:g.151699831G>A	ENSP00000376548:p.Glu231Lys					GALNTL5_uc003wkq.2_5'UTR|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Missense_Mutation_p.E120K	p.E231K	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	6	914	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	231			Catalytic subdomain A.|Lumenal (Potential).		Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	c.691G>A	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	G	34	5.302256	0.95601	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.64260	-0.09;-0.09	4.83	4.83	0.62350	Glycosyl transferase, family 2 (1);	0.000000	0.47455	D	0.000240	D	0.84460	0.5477	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88542	0.3110	10	0.87932	D	0	.	17.4632	0.87625	0.0:0.0:1.0:0.0	.	231	Q7Z4T8	GLTL5_HUMAN	K	231	ENSP00000392582:E231K;ENSP00000376548:E231K	ENSP00000376548:E231K	E	+	1	0	GALNTL5	151330764	1.000000	0.71417	0.929000	0.37066	0.852000	0.48524	9.267000	0.95665	2.673000	0.90976	0.650000	0.86243	GAG		0.502	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1		NM_145292		36	39	0	0	0	0.00623	0	36	39		
KMT2C	58508	broad.mit.edu	37	7	151949650	151949650	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:151949650G>T	ENST00000262189.6	-	10	1668	c.1450C>A	c.(1450-1452)Cat>Aat	p.H484N	KMT2C_ENST00000355193.2_Missense_Mutation_p.H484N	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	484					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)										ATATTACAATGAAGCATGTCT	0.368																																						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.(1450-1452)CAT>AAT		myeloid/lymphoid or mixed-lineage leukemia 3							125.0	114.0	118.0					7																	151949650		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151949650G>T	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.1450C>A	7.37:g.151949650G>T	ENSP00000262189:p.His484Asn						p.H484N	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)	10	1669	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	484			DHHC-type.|PHD-type 3.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1450C>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679739	0.47886	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.87256	-2.23;-2.23	6.16	6.16	0.99307	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.47852	D	0.000204	D	0.83552	0.5279	M	0.64997	1.995	0.80722	D	1	P	0.42827	0.791	B	0.32677	0.15	D	0.84472	0.0600	10	0.48119	T	0.1	.	14.9398	0.70983	0.0675:0.0:0.9325:0.0	.	484	Q8NEZ4	MLL3_HUMAN	N	484	ENSP00000262189:H484N;ENSP00000347325:H484N	ENSP00000262189:H484N	H	-	1	0	MLL3	151580583	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	3.102000	0.50291	2.937000	0.99478	0.650000	0.86243	CAT		0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				28	33	1	0	6.02846e-25	0.003271	6.44643e-25	28	33		
DUSP26	78986	broad.mit.edu	37	8	33454844	33454844	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:33454844C>T	ENST00000256261.4	-	2	707	c.190G>A	c.(190-192)Gag>Aag	p.E64K	DUSP26_ENST00000523956.1_Missense_Mutation_p.E64K	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	64	Tyrosine-protein phosphatase.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell adhesion (GO:0045785)|positive regulation of peptidyl-serine dephosphorylation (GO:1902310)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	p53 binding (GO:0002039)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA polymerase II activating transcription factor binding (GO:0001102)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		GGCCAGACCTCGTCGGCATGG	0.557																																						uc003xjp.2		NaN																	0					0						c.(190-192)GAG>AAG		dual specificity phosphatase 26							59.0	45.0	50.0					8																	33454844		2203	4300	6503	SO:0001583	missense	78986					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr8:33454844C>T	AY902194	CCDS6092.1	8p12	2014-09-09			ENSG00000133878	ENSG00000133878		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	28161	protein-coding gene	gene with protein product							Standard	NM_024025		Approved	MGC1136, DUSP24	uc003xjp.3	Q9BV47	OTTHUMG00000163961	ENST00000256261.4:c.190G>A	8.37:g.33454844C>T	ENSP00000256261:p.Glu64Lys					DUSP26_uc003xjq.2_Missense_Mutation_p.E64K	p.E64K	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)	2	523	-			64			Tyrosine-protein phosphatase.		D3DSV8|Q9BTW0	Missense_Mutation	SNP	ENST00000256261.4	37	c.190G>A	CCDS6092.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155204	0.94686	.	.	ENSG00000133878	ENST00000256261;ENST00000523956;ENST00000522982	T;T;T	0.61040	0.14;0.14;0.14	5.5	5.5	0.81552	Dual specificity phosphatase, subgroup, catalytic domain (2);	0.047691	0.85682	N	0.000000	T	0.70684	0.3252	M	0.70787	2.145	0.58432	D	0.999996	D	0.60575	0.988	P	0.54499	0.754	T	0.72649	-0.4229	10	0.52906	T	0.07	-34.3391	18.9825	0.92760	0.0:1.0:0.0:0.0	.	64	Q9BV47	DUS26_HUMAN	K	64	ENSP00000256261:E64K;ENSP00000429176:E64K;ENSP00000430922:E64K	ENSP00000256261:E64K	E	-	1	0	DUSP26	33574386	1.000000	0.71417	0.971000	0.41717	0.971000	0.66376	5.865000	0.69583	2.590000	0.87494	0.561000	0.74099	GAG		0.557	DUSP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376564.1		NM_024025		12	2	0	0	0	0.001855	0	12	2		
PRKDC	5591	broad.mit.edu	37	8	48761858	48761858	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:48761858C>A	ENST00000314191.2	-	55	7190	c.7134G>T	c.(7132-7134)atG>atT	p.M2378I	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.M2378I	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2379					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ACACAGCATTCATGAACCTGG	0.542								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NaN																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(7135-7137)ATG>ATT	NHEJ	protein kinase, DNA-activated, catalytic							129.0	123.0	125.0					8																	48761858		1910	4139	6049	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48761858C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.7134G>T	8.37:g.48761858C>A	ENSP00000313420:p.Met2378Ile					PRKDC_uc003xqj.2_Missense_Mutation_p.M2379I|PRKDC_uc011ldh.1_Intron	p.M2379I	NM_006904	NP_008835	P78527	PRKDC_HUMAN			55	7194	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2379					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.7137G>T		.	.	.	.	.	.	.	.	.	.	C	11.15	1.555431	0.27739	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.39997	1.05;1.05	4.82	3.94	0.45596	Armadillo-type fold (1);	0.294833	0.33553	N	0.004799	T	0.33904	0.0879	L	0.40543	1.245	0.35392	D	0.790871	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.003	T	0.37220	-0.9715	10	0.40728	T	0.16	.	12.1931	0.54282	0.0:0.9162:0.0:0.0838	.	2378;2379	E7EUY0;P78527	.;PRKDC_HUMAN	I	2378	ENSP00000313420:M2378I;ENSP00000345182:M2378I	ENSP00000313420:M2378I	M	-	3	0	PRKDC	48924411	1.000000	0.71417	0.998000	0.56505	0.869000	0.49853	1.742000	0.38248	1.136000	0.42199	0.563000	0.77884	ATG		0.542	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001081640		14	132	1	0	1.15088e-07	0.004007	1.19251e-07	14	132		
NSMAF	8439	broad.mit.edu	37	8	59522183	59522183	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:59522183G>A	ENST00000038176.3	-	10	879	c.667C>T	c.(667-669)Cag>Tag	p.Q223*	NSMAF_ENST00000427130.2_Nonsense_Mutation_p.Q254*|NSMAF_ENST00000519858.1_5'UTR	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	223	GRAM.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TTGAGGGGCTGAAAATACAGG	0.532																																						uc003xtt.2		NaN																	0				ovary(1)	1						c.(667-669)CAG>TAG		neutral sphingomyelinase (N-SMase) activation							98.0	91.0	94.0					8																	59522183		2203	4300	6503	SO:0001587	stop_gained	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59522183G>A	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.667C>T	8.37:g.59522183G>A	ENSP00000038176:p.Gln223*					NSMAF_uc011lee.1_Nonsense_Mutation_p.Q254*|NSMAF_uc003xtu.2_Nonsense_Mutation_p.Q223*	p.Q223*	NM_003580	NP_003571	Q92636	FAN_HUMAN			10	881	-		all_lung(136;0.174)|Lung NSC(129;0.2)	223			GRAM.		B4DFB0|E9PCH0|Q8IW26	Nonsense_Mutation	SNP	ENST00000038176.3	37	c.667C>T	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	G	39	7.516231	0.98332	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.785	0.96433	0.0:0.0:1.0:0.0	.	.	.	.	X	223;254	.	.	Q	-	1	0	NSMAF	59684737	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	9.779000	0.99018	2.743000	0.94032	0.650000	0.86243	CAG		0.532	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1		NM_003580		31	37	0	0	0	0.004289	0	31	37		
KCNB2	9312	broad.mit.edu	37	8	73849046	73849046	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:73849046C>G	ENST00000523207.1	+	3	2044	c.1456C>G	c.(1456-1458)Cac>Gac	p.H486D		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	486					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)	CGACGATAATCACCTGTCGCC	0.512																																						uc003xzb.2		NaN																	0				skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(1456-1458)CAC>GAC		potassium voltage-gated channel, Shab-related							83.0	91.0	88.0					8																	73849046		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.chr8:73849046C>G	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.1456C>G	8.37:g.73849046C>G	ENSP00000430846:p.His486Asp						p.H486D	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2044	+	Breast(64;0.137)		486			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1456C>G	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240383	0.58995	.	.	ENSG00000182674	ENST00000523207	T	0.39406	1.08	5.47	5.47	0.80525	.	0.526217	0.16184	N	0.225716	T	0.57140	0.2033	M	0.64997	1.995	0.52501	D	0.999955	P	0.52316	0.952	P	0.53102	0.718	T	0.55431	-0.8142	10	0.45353	T	0.12	.	19.3291	0.94278	0.0:1.0:0.0:0.0	.	486	Q92953	KCNB2_HUMAN	D	486	ENSP00000430846:H486D	ENSP00000430846:H486D	H	+	1	0	KCNB2	74011600	1.000000	0.71417	0.997000	0.53966	0.714000	0.41099	6.026000	0.70873	2.553000	0.86117	0.655000	0.94253	CAC		0.512	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1		NM_004770		16	163	0	0	0	0.004007	0	16	163		
PI15	51050	broad.mit.edu	37	8	75761397	75761397	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:75761397G>T	ENST00000260113.2	+	6	865	c.686G>T	c.(685-687)tGt>tTt	p.C229F	PI15_ENST00000523773.1_Missense_Mutation_p.C229F|RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	229						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GGGGTACCATGTTCATCTTGT	0.393																																						uc003yal.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(685-687)TGT>TTT		protease inhibitor 15 preproprotein							215.0	192.0	200.0					8																	75761397		2203	4300	6503	SO:0001583	missense	51050					extracellular region	peptidase inhibitor activity	g.chr8:75761397G>T	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.686G>T	8.37:g.75761397G>T	ENSP00000260113:p.Cys229Phe					uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.C229F	p.C229F	NM_015886	NP_056970	O43692	PI15_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)		6	865	+	Breast(64;0.137)		229					Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	37	c.686G>T	CCDS6218.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401845	0.83120	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.16324	2.35;2.35	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.59155	0.2173	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73742	-0.3887	10	0.87932	D	0	.	19.1672	0.93562	0.0:0.0:1.0:0.0	.	229	O43692	PI15_HUMAN	F	229	ENSP00000260113:C229F;ENSP00000428567:C229F	ENSP00000260113:C229F	C	+	2	0	PI15	75923952	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.208000	0.95075	2.833000	0.97629	0.585000	0.79938	TGT		0.393	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1		NM_015886		78	100	1	0	4.4782e-45	0.01441	4.8273e-45	78	100		
MMP16	4325	broad.mit.edu	37	8	89180039	89180039	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:89180039A>T	ENST00000286614.6	-	4	849	c.568T>A	c.(568-570)Tct>Act	p.S190T	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	190					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TGGAAACCAGATGCAAAAATA	0.438																																						uc003yeb.3		NaN																	0				upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(568-570)TCT>ACT		matrix metalloproteinase 16 isoform 1							91.0	81.0	84.0					8																	89180039		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89180039A>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.568T>A	8.37:g.89180039A>T	ENSP00000286614:p.Ser190Thr					MMP16_uc003yec.2_Missense_Mutation_p.S190T	p.S190T	NM_005941	NP_005932	P51512	MMP16_HUMAN			4	850	-			190			Extracellular (Potential).		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.568T>A	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.049637	0.75846	.	.	ENSG00000156103	ENST00000286614	T	0.52526	0.66	5.95	5.95	0.96441	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.050812	0.85682	N	0.000000	T	0.53094	0.1775	L	0.53249	1.67	0.80722	D	1	P;P	0.40282	0.711;0.467	P;B	0.46917	0.531;0.393	T	0.45833	-0.9234	10	0.26408	T	0.33	.	16.4323	0.83853	1.0:0.0:0.0:0.0	.	190;190	P51512-2;P51512	.;MMP16_HUMAN	T	190	ENSP00000286614:S190T	ENSP00000286614:S190T	S	-	1	0	MMP16	89249155	1.000000	0.71417	0.991000	0.47740	0.956000	0.61745	9.260000	0.95568	2.281000	0.76405	0.528000	0.53228	TCT		0.438	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2		NM_005941		37	36	0	0	0	0.006999	0	37	36		
UBR5	51366	broad.mit.edu	37	8	103358508	103358508	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:103358508C>T	ENST00000520539.1	-	7	1298	c.692G>A	c.(691-693)gGa>gAa	p.G231E	UBR5_ENST00000521922.1_Missense_Mutation_p.G231E|UBR5_ENST00000220959.4_Missense_Mutation_p.G231E	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	231					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)			CCCATCATCTCCATCTTCATC	0.433																																					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.(691-693)GGA>GAA		ubiquitin protein ligase E3 component n-recognin							173.0	160.0	164.0					8																	103358508		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.chr8:103358508C>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.692G>A	8.37:g.103358508C>T	ENSP00000429084:p.Gly231Glu					UBR5_uc003yks.1_Missense_Mutation_p.G231E	p.G231E	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		7	725	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		231					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.692G>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	35	5.458448	0.96240	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.47869	0.84;0.84;0.83	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.61160	0.2325	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.53542	-0.8424	10	0.02654	T	1	.	19.6693	0.95905	0.0:1.0:0.0:0.0	.	231;231	E7EMW7;O95071	.;UBR5_HUMAN	E	231	ENSP00000429084:G231E;ENSP00000220959:G231E;ENSP00000427819:G231E	ENSP00000220959:G231E	G	-	2	0	UBR5	103427684	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.711000	0.92665	0.650000	0.86243	GGA		0.433	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2		NM_015902		84	197	0	0	0	0.01441	0	84	197		
UBR5	51366	broad.mit.edu	37	8	103358578	103358578	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:103358578C>T	ENST00000520539.1	-	7	1228	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	UBR5_ENST00000521922.1_Missense_Mutation_p.E208K|UBR5_ENST00000220959.4_Missense_Mutation_p.E208K	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	208					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)			CTCTGAAGTTCTCGAATAATG	0.353																																					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.(622-624)GAA>AAA		ubiquitin protein ligase E3 component n-recognin							116.0	109.0	111.0					8																	103358578		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.chr8:103358578C>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.622G>A	8.37:g.103358578C>T	ENSP00000429084:p.Glu208Lys					UBR5_uc003yks.1_Missense_Mutation_p.E208K	p.E208K	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		7	655	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		208					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.622G>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	36	5.832042	0.97003	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.78595	-1.14;-1.14;-1.19	5.47	5.47	0.80525	E3 ubiquitin ligase EDD, ubiquitin-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.86707	0.5997	L	0.57536	1.79	0.80722	D	1	D;D	0.57257	0.979;0.979	D;D	0.71414	0.973;0.973	D	0.87203	0.2242	10	0.87932	D	0	.	19.6975	0.96031	0.0:1.0:0.0:0.0	.	208;208	E7EMW7;O95071	.;UBR5_HUMAN	K	208	ENSP00000429084:E208K;ENSP00000220959:E208K;ENSP00000427819:E208K	ENSP00000220959:E208K	E	-	1	0	UBR5	103427754	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.718000	0.84743	2.729000	0.93468	0.557000	0.71058	GAA		0.353	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2		NM_015902		46	90	0	0	0	0.01441	0	46	90		
UBR5	51366	broad.mit.edu	37	8	103373849	103373849	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:103373849C>T	ENST00000520539.1	-	2	674	c.68G>A	c.(67-69)cGa>cAa	p.R23Q	UBR5_ENST00000521922.1_Missense_Mutation_p.R23Q|UBR5_ENST00000220959.4_Missense_Mutation_p.R23Q	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	23					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)			AGAAACTTCTCGTAACCTTTA	0.269																																					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.(67-69)CGA>CAA		ubiquitin protein ligase E3 component n-recognin							42.0	41.0	41.0					8																	103373849		2199	4289	6488	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.chr8:103373849C>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.68G>A	8.37:g.103373849C>T	ENSP00000429084:p.Arg23Gln					UBR5_uc003yks.1_Missense_Mutation_p.R23Q	p.R23Q	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		2	101	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		23					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.68G>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413518	0.83449	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.55052	0.55;0.55;0.54	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000002	T	0.61677	0.2366	L	0.55990	1.75	0.53688	D	0.99997	P;P	0.50369	0.934;0.934	P;P	0.49528	0.614;0.614	T	0.62840	-0.6769	10	0.72032	D	0.01	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	23;23	E7EMW7;O95071	.;UBR5_HUMAN	Q	23	ENSP00000429084:R23Q;ENSP00000220959:R23Q;ENSP00000427819:R23Q	ENSP00000220959:R23Q	R	-	2	0	UBR5	103443025	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.749000	0.74883	2.838000	0.97847	0.591000	0.81541	CGA		0.269	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2		NM_015902		24	40	0	0	0	0.005443	0	24	40		
DPYS	1807	broad.mit.edu	37	8	105436556	105436556	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:105436556A>C	ENST00000351513.2	-	7	1286	c.1154T>G	c.(1153-1155)aTt>aGt	p.I385S	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	385					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GAGATTAAAAATTTTGGCTGC	0.353																																						uc003yly.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1153-1155)ATT>AGT		dihydropyrimidinase							148.0	146.0	146.0					8																	105436556		2203	4300	6503	SO:0001583	missense	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105436556A>C	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1154T>G	8.37:g.105436556A>C	ENSP00000276651:p.Ile385Ser						p.I385S	NM_001385	NP_001376	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		7	1283	-			385						Missense_Mutation	SNP	ENST00000351513.2	37	c.1154T>G	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.389223	0.82902	.	.	ENSG00000147647	ENST00000351513	D	0.89939	-2.59	5.98	5.98	0.97165	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.093600	0.64402	D	0.000001	D	0.96321	0.8800	H	0.95611	3.695	0.80722	D	1	D	0.65815	0.995	D	0.87578	0.998	D	0.97412	1.0003	10	0.87932	D	0	-19.2989	16.4622	0.84064	1.0:0.0:0.0:0.0	.	385	Q14117	DPYS_HUMAN	S	385	ENSP00000276651:I385S	ENSP00000276651:I385S	I	-	2	0	DPYS	105505732	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.279000	0.95777	2.289000	0.77006	0.533000	0.62120	ATT		0.353	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1		NM_001385		30	42	0	0	0	0.010818	0	30	42		
LRP12	29967	broad.mit.edu	37	8	105509596	105509596	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:105509596C>T	ENST00000276654.5	-	5	1292	c.1184G>A	c.(1183-1185)tGt>tAt	p.C395Y	LRP12_ENST00000424843.2_Missense_Mutation_p.C376Y|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	395	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATACCCATCACAACGCTGCTG	0.463																																						uc003yma.2		NaN																	0					0						c.(1183-1185)TGT>TAT		low density lipoprotein-related protein 12							114.0	106.0	109.0					8																	105509596		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105509596C>T	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1184G>A	8.37:g.105509596C>T	ENSP00000276654:p.Cys395Tyr					LRP12_uc003ymb.2_Missense_Mutation_p.C376Y|LRP12_uc003ylz.2_5'Flank	p.C395Y	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		5	1279	-			395			Extracellular (Potential).|LDL-receptor class A 3.		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.1184G>A	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925577	0.73213	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	T;T	0.71341	-0.56;-0.56	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.87374	0.6161	M	0.88775	2.98	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.80764	0.994;0.986	D	0.89031	0.3442	10	0.87932	D	0	-22.8094	19.7495	0.96261	0.0:1.0:0.0:0.0	.	376;395	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	Y	376;395	ENSP00000399148:C376Y;ENSP00000276654:C395Y	ENSP00000276654:C395Y	C	-	2	0	LRP12	105578772	1.000000	0.71417	0.523000	0.27875	0.940000	0.58332	7.456000	0.80751	2.685000	0.91497	0.455000	0.32223	TGT		0.463	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1		NM_013437		8	118	0	0	0	0.006214	0	8	118		
DOCK8	81704	broad.mit.edu	37	9	434934	434934	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:434934G>C	ENST00000453981.1	+	39	5150	c.5038G>C	c.(5038-5040)Gag>Cag	p.E1680Q	DOCK8_ENST00000382329.1_Missense_Mutation_p.E1147Q|DOCK8_ENST00000432829.2_Missense_Mutation_p.E1612Q|DOCK8_ENST00000469391.1_Missense_Mutation_p.E1580Q			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1680	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GAGCATGCTGGAGGACCACAG	0.567																																						uc003zgf.2		NaN																	0				ovary(3)|central_nervous_system(3)	6						c.(5038-5040)GAG>CAG		dedicator of cytokinesis 8							96.0	87.0	90.0					9																	434934		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:434934G>C	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.5038G>C	9.37:g.434934G>C	ENSP00000408464:p.Glu1680Gln					DOCK8_uc010mgu.2_Missense_Mutation_p.E982Q|DOCK8_uc010mgv.2_Missense_Mutation_p.E1580Q|DOCK8_uc003zgk.2_Missense_Mutation_p.E1138Q	p.E1680Q	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	39	5150	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1680			DHR-2.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.5038G>C	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978069	0.74360	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.68765	2.41;-0.35;-0.35;-0.35	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.79347	0.4430	M	0.80028	2.48	0.80722	D	1	B;P;P	0.35982	0.23;0.531;0.531	B;P;P	0.48901	0.08;0.594;0.594	T	0.80621	-0.1301	10	0.56958	D	0.05	.	18.5837	0.91181	0.0:0.0:1.0:0.0	.	1580;1147;1680	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	Q	1680;1648;1612;1580;1147	ENSP00000408464:E1680Q;ENSP00000394888:E1612Q;ENSP00000419438:E1580Q;ENSP00000371766:E1147Q	ENSP00000287364:E1648Q	E	+	1	0	DOCK8	424934	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.527000	0.98044	2.615000	0.88500	0.609000	0.83330	GAG		0.567	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5		XM_036307		14	46	0	0	0	0.007413	0	14	46		
DMRT1	1761	broad.mit.edu	37	9	841870	841870	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:841870C>G	ENST00000382276.3	+	1	181	c.32C>G	c.(31-33)tCt>tGt	p.S11C	DMRT1_ENST00000569227.1_5'Flank	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	11					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		AGCAAGCCCTCTACACCGTCG	0.692																																						uc003zgv.2		NaN																	0				ovary(1)	1						c.(31-33)TCT>TGT		doublesex and mab-3 related transcription factor							20.0	18.0	18.0					9																	841870		2196	4298	6494	SO:0001583	missense	1761				cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:841870C>G	AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"""DM domain expressed in testis 1"""	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.32C>G	9.37:g.841870C>G	ENSP00000371711:p.Ser11Cys					DMRT1_uc003zgu.1_Missense_Mutation_p.S11C	p.S11C	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN		Lung(218;0.037)	1	181	+		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)	11					B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	ENST00000382276.3	37	c.32C>G	CCDS6442.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.925461	0.34002	.	.	ENSG00000137090	ENST00000451501;ENST00000382276	T	0.21361	2.01	3.42	3.42	0.39159	.	1.333010	0.05124	N	0.491297	T	0.45196	0.1330	M	0.63843	1.955	0.80722	D	1	D;D	0.69078	0.986;0.997	P;D	0.70935	0.52;0.971	T	0.14117	-1.0484	10	0.72032	D	0.01	.	10.5166	0.44894	0.0:1.0:0.0:0.0	.	11;11	Q9Y5R6;Q6T1H9	DMRT1_HUMAN;.	C	11	ENSP00000371711:S11C	ENSP00000371711:S11C	S	+	2	0	DMRT1	831870	0.026000	0.19158	0.458000	0.27068	0.019000	0.09904	1.957000	0.40392	1.898000	0.54952	0.556000	0.70494	TCT		0.692	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051489.2		NM_021951		7	15	0	0	0	0.004482	0	7	15		
PDCD1LG2	80380	broad.mit.edu	37	9	5534978	5534978	+	Missense_Mutation	SNP	G	G	A	rs201840318		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:5534978G>A	ENST00000397747.3	+	3	537	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	PDCD1LG2_ENST00000397745.2_Missense_Mutation_p.E97K	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	97	Ig-like V-type.				immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		AGTGAGGGACGAAGGACAGTA	0.507													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20917	0.0		0.0	False		,,,				2504	0.0					uc003zjg.3		NaN																	0					0						c.(289-291)GAA>AAA		programmed cell death 1 ligand 2 precursor							92.0	80.0	84.0					9																	5534978		2203	4300	6503	SO:0001583	missense	80380				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr9:5534978G>A	AF344424	CCDS6465.1	9p24.2	2014-01-30			ENSG00000197646	ENSG00000197646		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	18731	protein-coding gene	gene with protein product	"""B7 dendritic cell molecule"""	605723				11224527	Standard	NM_025239		Approved	PD-L2, Btdc, PDL2, bA574F11.2, CD273, B7-DC	uc003zjg.4	Q9BQ51	OTTHUMG00000019504	ENST00000397747.3:c.289G>A	9.37:g.5534978G>A	ENSP00000380855:p.Glu97Lys					C9orf46_uc003zjd.2_Intron|PDCD1LG2_uc011lmc.1_Missense_Mutation_p.E97K|PDCD1LG2_uc011lmd.1_Missense_Mutation_p.E97K|PDCD1LG2_uc010mhp.1_Missense_Mutation_p.E97K|PDCD1LG2_uc010mho.1_Missense_Mutation_p.E97K	p.E97K	NM_025239	NP_079515	Q9BQ51	PD1L2_HUMAN		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)	3	562	+	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)	97			Ig-like V-type.|Extracellular (Potential).		Q14CN8|Q5T7Z6|Q6JXL8|Q6JXL9	Missense_Mutation	SNP	ENST00000397747.3	37	c.289G>A	CCDS6465.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.58	2.578736	0.46006	.	.	ENSG00000197646	ENST00000397745;ENST00000397747	T;T	0.11930	2.73;2.73	5.73	4.81	0.61882	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.503680	0.19656	N	0.109100	T	0.09158	0.0226	L	0.35542	1.07	0.09310	N	1	P;B;P;P;B	0.49090	0.709;0.034;0.919;0.564;0.034	B;B;B;B;B	0.32533	0.082;0.011;0.147;0.054;0.011	T	0.18053	-1.0349	10	0.49607	T	0.09	-11.1064	11.661	0.51347	0.0:0.0:0.8161:0.1839	.	86;97;97;97;97	Q2LC89;A4GW21;Q9BQ51-3;Q9BQ51-2;Q9BQ51	.;.;.;.;PD1L2_HUMAN	K	97	ENSP00000380853:E97K;ENSP00000380855:E97K	ENSP00000380853:E97K	E	+	1	0	PDCD1LG2	5524978	0.583000	0.26757	0.002000	0.10522	0.855000	0.48748	2.813000	0.48002	1.367000	0.46095	0.561000	0.74099	GAA		0.507	PDCD1LG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051634.1		NM_025239		26	38	0	0	0	0.00632	0	26	38		
PTPRD	5789	broad.mit.edu	37	9	8499822	8499822	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:8499822C>T	ENST00000381196.4	-	22	2690	c.2147G>A	c.(2146-2148)cGc>cAc	p.R716H	PTPRD_ENST00000360074.4_Missense_Mutation_p.R703H|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.R716H|PTPRD_ENST00000358503.5_Missense_Mutation_p.R703H|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.R716H|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000471274.1_5'UTR	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	716	Fibronectin type-III 5. {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)	p.R716L(1)		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)		CTCGACTTTGCGAGGAGGACC	0.448										TSP Lung(15;0.13)																												uc003zkk.2		NaN																	1	Substitution - Missense(1)		lung(1)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(2146-2148)CGC>CAC		protein tyrosine phosphatase, receptor type, D							102.0	94.0	97.0					9																	8499822		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.chr9:8499822C>T	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.2147G>A	9.37:g.8499822C>T	ENSP00000370593:p.Arg716His	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.R716H|PTPRD_uc003zkm.2_Missense_Mutation_p.R703H|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	p.R716H	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)	24	2858	-		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)	716			Fibronectin type-III 5.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.2147G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416952	0.83449	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32	5.69	5.69	0.88448	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79441	0.4446	M	0.83312	2.635	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.967;0.998;0.987	T	0.79857	-0.1626	9	.	.	.	.	19.824	0.96608	0.0:1.0:0.0:0.0	.	703;716;716	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	H	716;716;703;703;716	ENSP00000370593:R716H;ENSP00000348812:R716H;ENSP00000353187:R703H;ENSP00000351293:R703H;ENSP00000438164:R716H	.	R	-	2	0	PTPRD	8489822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.699000	0.92147	0.591000	0.81541	CGC		0.448	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3				30	51	0	0	0	0.004878	0	30	51		
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	uc003zoe.2		NaN		Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)		lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	lung(2)|ovary(1)	3						c.(502-504)AGC>AGT		myeloid/lymphoid or mixed-lineage leukemia							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_uc011lne.1_Silent_p.S136S|MLLT3_uc011lnf.1_Silent_p.S165S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.A130V	p.S168S	NM_004529	NP_004520	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	763	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1		NM_004529		3	20	0	0	0	0.004672	0	3	20		
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					uc003zoe.2		NaN		Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)		lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	lung(2)|ovary(1)	3						c.(499-501)AGT>AGC		myeloid/lymphoid or mixed-lineage leukemia							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.V129A	p.S167S	NM_004529	NP_004520	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	760	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1		NM_004529		3	18	0	0	0	0.004672	0	3	18		
RUSC2	9853	broad.mit.edu	37	9	35555321	35555321	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:35555321G>A	ENST00000455600.1	+	3	2848	c.2279G>A	c.(2278-2280)aGa>aAa	p.R760K		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	760						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GCCACTGGCAGAGGTGCCAGG	0.667																																						uc003zww.2		NaN																	0				ovary(1)	1						c.(2278-2280)AGA>AAA		RUN and SH3 domain containing 2							44.0	50.0	48.0					9																	35555321		2202	4298	6500	SO:0001583	missense	9853					cytosol		g.chr9:35555321G>A	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.2279G>A	9.37:g.35555321G>A	ENSP00000393922:p.Arg760Lys					RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.R760K	p.R760K	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		3	2534	+			760					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.2279G>A	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	8.407	0.843335	0.16963	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.21191	2.02;2.02	4.54	1.53	0.23141	.	0.680368	0.13903	N	0.354770	T	0.09247	0.0228	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36529	-0.9744	10	0.20046	T	0.44	-3.5039	4.1235	0.10116	0.2606:0.0:0.5774:0.162	.	760	Q8N2Y8	RUSC2_HUMAN	K	760	ENSP00000355177:R760K;ENSP00000393922:R760K	ENSP00000355177:R760K	R	+	2	0	RUSC2	35545321	0.886000	0.30341	0.160000	0.22671	0.946000	0.59487	2.673000	0.46858	0.084000	0.17077	0.563000	0.77884	AGA		0.667	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1		XM_048462		56	59	0	0	0	0.01441	0	56	59		
RUSC2	9853	broad.mit.edu	37	9	35555344	35555344	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:35555344G>A	ENST00000455600.1	+	3	2871	c.2302G>A	c.(2302-2304)Gag>Aag	p.E768K		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	768						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGCTGGGTCTGAGCCAGAGAC	0.657																																						uc003zww.2		NaN																	0				ovary(1)	1						c.(2302-2304)GAG>AAG		RUN and SH3 domain containing 2							55.0	62.0	60.0					9																	35555344		2203	4299	6502	SO:0001583	missense	9853					cytosol		g.chr9:35555344G>A	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.2302G>A	9.37:g.35555344G>A	ENSP00000393922:p.Glu768Lys					RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.E768K	p.E768K	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		3	2557	+			768					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.2302G>A	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358320	0.24598	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.22743	1.94;1.94	4.54	4.54	0.55810	.	0.259393	0.33631	N	0.004719	T	0.13372	0.0324	N	0.19112	0.55	0.29996	N	0.816476	B	0.29716	0.255	B	0.24394	0.053	T	0.06250	-1.0837	10	0.13853	T	0.58	-13.0029	16.6152	0.84909	0.0:0.0:1.0:0.0	.	768	Q8N2Y8	RUSC2_HUMAN	K	768	ENSP00000355177:E768K;ENSP00000393922:E768K	ENSP00000355177:E768K	E	+	1	0	RUSC2	35545344	1.000000	0.71417	1.000000	0.80357	0.363000	0.29612	3.683000	0.54663	2.231000	0.72958	0.563000	0.77884	GAG		0.657	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1		XM_048462		87	88	0	0	0	0.01441	0	87	88		
RUSC2	9853	broad.mit.edu	37	9	35560379	35560379	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:35560379G>A	ENST00000455600.1	+	10	4311	c.3742G>A	c.(3742-3744)Gaa>Aaa	p.E1248K	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1248	Poly-Glu.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			agaggagacagaagaggtggc	0.667																																						uc003zww.2		NaN																	0				ovary(1)	1						c.(3742-3744)GAA>AAA		RUN and SH3 domain containing 2							24.0	31.0	29.0					9																	35560379		2202	4293	6495	SO:0001583	missense	9853					cytosol		g.chr9:35560379G>A	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.3742G>A	9.37:g.35560379G>A	ENSP00000393922:p.Glu1248Lys					RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.E1248K	p.E1248K	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		10	3997	+			1248			Poly-Glu.		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.3742G>A	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.776250	0.31411	.	.	ENSG00000198853	ENST00000361226;ENST00000455600	T;T	0.21543	2.0;2.0	4.92	4.92	0.64577	.	0.384055	0.25307	N	0.031614	T	0.11239	0.0274	N	0.14661	0.345	0.09310	N	1	B	0.29716	0.255	B	0.24394	0.053	T	0.20907	-1.0261	10	0.25106	T	0.35	-11.4416	10.364	0.44012	0.0918:0.0:0.9082:0.0	.	1248	Q8N2Y8	RUSC2_HUMAN	K	1248	ENSP00000355177:E1248K;ENSP00000393922:E1248K	ENSP00000355177:E1248K	E	+	1	0	RUSC2	35550379	0.996000	0.38824	0.760000	0.31359	0.914000	0.54420	7.399000	0.79935	2.289000	0.77006	0.561000	0.74099	GAA		0.667	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1		XM_048462		8	18	0	0	0	0.013537	0	8	18		
RUSC2	9853	broad.mit.edu	37	9	35560391	35560391	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:35560391G>A	ENST00000455600.1	+	10	4323	c.3754G>A	c.(3754-3756)Gag>Aag	p.E1252K	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1252						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			agaggtggcagaggcagCCGG	0.652																																						uc003zww.2		NaN																	0				ovary(1)	1						c.(3754-3756)GAG>AAG		RUN and SH3 domain containing 2							27.0	34.0	31.0					9																	35560391		2201	4294	6495	SO:0001583	missense	9853					cytosol		g.chr9:35560391G>A	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.3754G>A	9.37:g.35560391G>A	ENSP00000393922:p.Glu1252Lys					RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.E1252K	p.E1252K	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		10	4009	+			1252					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.3754G>A	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900531	0.33535	.	.	ENSG00000198853	ENST00000361226;ENST00000455600	T;T	0.22743	1.94;1.94	5.41	4.51	0.55191	.	0.872120	0.10504	N	0.666994	T	0.10380	0.0254	N	0.08118	0	0.28451	N	0.91634	B	0.11235	0.004	B	0.06405	0.002	T	0.15694	-1.0428	10	0.20519	T	0.43	-6.4311	7.4256	0.27096	0.1658:0.0:0.8342:0.0	.	1252	Q8N2Y8	RUSC2_HUMAN	K	1252	ENSP00000355177:E1252K;ENSP00000393922:E1252K	ENSP00000355177:E1252K	E	+	1	0	RUSC2	35550391	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	3.436000	0.52856	2.534000	0.85438	0.561000	0.74099	GAG		0.652	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1		XM_048462		15	23	0	0	0	0.008871	0	15	23		
SLC28A3	64078	broad.mit.edu	37	9	86900922	86900922	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:86900922G>T	ENST00000376238.4	-	13	1434	c.1385C>A	c.(1384-1386)tCt>tAt	p.S462Y	SLC28A3_ENST00000537648.1_Missense_Mutation_p.S393Y|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	462					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	ATTCATAAAAGACAGCAGGGC	0.498																																					Ovarian(106;425 1539 34835 42413 43572)	uc010mpz.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(1384-1386)TCT>TAT		concentrative Na+-nucleoside cotransporter							93.0	84.0	87.0					9																	86900922		2203	4300	6503	SO:0001583	missense	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86900922G>T	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.1385C>A	9.37:g.86900922G>T	ENSP00000365413:p.Ser462Tyr					SLC28A3_uc011lsy.1_Missense_Mutation_p.S393Y|SLC28A3_uc004anu.1_Missense_Mutation_p.S462Y	p.S462Y	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN			13	1510	-			462			Helical; (Potential).		A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	c.1385C>A	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879392	0.51801	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.07114	3.22;3.22	5.88	5.88	0.94601	Na dependent nucleoside transporter, C-terminal (1);	0.165287	0.53938	D	0.000054	T	0.12433	0.0302	L	0.41824	1.3	0.42098	D	0.991322	B	0.29909	0.261	B	0.36608	0.229	T	0.03315	-1.1049	10	0.87932	D	0	-26.2459	17.1589	0.86799	0.0:0.1259:0.8741:0.0	.	462	Q9HAS3	S28A3_HUMAN	Y	462;393	ENSP00000365413:S462Y;ENSP00000446438:S393Y	ENSP00000365413:S462Y	S	-	2	0	SLC28A3	86090742	0.898000	0.30612	0.996000	0.52242	0.985000	0.73830	1.555000	0.36277	2.797000	0.96272	0.561000	0.74099	TCT		0.498	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1		NM_022127		18	31	1	0	5.35356e-11	0.00278	5.63458e-11	18	31		
DAPK1	1612	broad.mit.edu	37	9	90296407	90296407	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:90296407G>A	ENST00000408954.3	+	20	2425	c.2090G>A	c.(2089-2091)gGa>gAa	p.G697E	DAPK1_ENST00000358077.5_Missense_Mutation_p.G697E|DAPK1_ENST00000491893.1_Missense_Mutation_p.G697E|DAPK1_ENST00000469640.2_Missense_Mutation_p.G697E|DAPK1_ENST00000472284.1_Missense_Mutation_p.G697E	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	697					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GGCCACTCGGGATCCGGGAAA	0.552									Chronic Lymphocytic Leukemia, Familial Clustering of																													uc004apc.2		NaN																	0				ovary(1)|breast(1)	2						c.(2089-2091)GGA>GAA		death-associated protein kinase 1							104.0	107.0	106.0					9																	90296407		1939	4152	6091	SO:0001583	missense	1612	Chronic_Lymphocytic_Leukemia_Familial_Clustering_of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90296407G>A	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.2090G>A	9.37:g.90296407G>A	ENSP00000386135:p.Gly697Glu					DAPK1_uc004apd.2_Missense_Mutation_p.G697E|DAPK1_uc011ltg.1_Missense_Mutation_p.G697E|DAPK1_uc011lth.1_Missense_Mutation_p.G434E|DAPK1_uc004apf.1_Missense_Mutation_p.G251E	p.G697E	NM_004938	NP_004929	P53355	DAPK1_HUMAN			20	2228	+			697					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.2090G>A	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173551	0.38413	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.65732	-0.17;-0.17;-0.16;-0.17;-0.09	5.17	4.27	0.50696	.	0.000000	0.49916	D	0.000133	T	0.75177	0.3814	M	0.61703	1.905	0.58432	D	0.999999	P;D;P	0.69078	0.935;0.997;0.935	P;D;P	0.69479	0.642;0.964;0.642	T	0.78069	-0.2348	10	0.62326	D	0.03	.	14.7804	0.69764	0.0:0.2739:0.7261:0.0	.	697;251;697	B7ZLE7;P53355-2;P53355	.;.;DAPK1_HUMAN	E	697	ENSP00000350785:G697E;ENSP00000417076:G697E;ENSP00000418885:G697E;ENSP00000386135:G697E;ENSP00000419026:G697E	ENSP00000350785:G697E	G	+	2	0	DAPK1	89486227	1.000000	0.71417	0.086000	0.20670	0.088000	0.18126	6.456000	0.73501	1.417000	0.47077	0.561000	0.74099	GGA		0.552	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1		NM_004938		77	75	0	0	0	0.01441	0	77	75		
IPPK	64768	broad.mit.edu	37	9	95418779	95418779	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:95418779C>T	ENST00000287996.3	-	3	460	c.184G>A	c.(184-186)Gtc>Atc	p.V62I		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	62					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						TCCTTCATGACATTTTTCCCA	0.433																																						uc004asl.1		NaN																	0				ovary(2)	2						c.(184-186)GTC>ATC		inositol 1,3,4,5,6-pentakisphosphate 2-kinase							161.0	155.0	157.0					9																	95418779		2203	4300	6503	SO:0001583	missense	64768				inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity	g.chr9:95418779C>T	AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 12"""	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.184G>A	9.37:g.95418779C>T	ENSP00000287996:p.Val62Ile						p.V62I	NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN			3	461	-			62					Q5T9F7|Q9H7V8	Missense_Mutation	SNP	ENST00000287996.3	37	c.184G>A	CCDS6699.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423633	0.43020	.	.	ENSG00000127080	ENST00000287996	T	0.34275	1.37	4.98	4.98	0.66077	.	0.065885	0.64402	D	0.000011	T	0.24967	0.0606	L	0.31845	0.965	0.80722	D	1	B	0.20550	0.046	B	0.22601	0.04	T	0.07927	-1.0747	10	0.22109	T	0.4	-24.3247	8.0456	0.30547	0.0:0.8239:0.0:0.1761	.	62	Q9H8X2	IPPK_HUMAN	I	62	ENSP00000287996:V62I	ENSP00000287996:V62I	V	-	1	0	IPPK	94458600	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.110000	0.50352	2.481000	0.83766	0.305000	0.20034	GTC		0.433	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053101.1		NM_022755		55	79	0	0	0	0.01441	0	55	79		
SMC2	10592	broad.mit.edu	37	9	106882409	106882409	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:106882409G>A	ENST00000286398.7	+	16	2386	c.2098G>A	c.(2098-2100)Gag>Aag	p.E700K	SMC2_ENST00000374793.3_Missense_Mutation_p.E700K|SMC2_ENST00000374787.3_Missense_Mutation_p.E700K|SMC2_ENST00000303219.8_Missense_Mutation_p.E700K	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	700					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGCTCTAGAAGAGGAATTAGC	0.353																																						uc004bbv.2		NaN																	0				ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						c.(2098-2100)GAG>AAG		structural maintenance of chromosomes 2							95.0	104.0	101.0					9																	106882409		2203	4299	6502	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106882409G>A	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2098G>A	9.37:g.106882409G>A	ENSP00000286398:p.Glu700Lys					SMC2_uc004bbu.1_Missense_Mutation_p.E700K|SMC2_uc004bbw.2_Missense_Mutation_p.E700K|SMC2_uc011lvl.1_Missense_Mutation_p.E700K|SMC2_uc004bbx.2_Missense_Mutation_p.E700K	p.E700K	NM_001042551	NP_001036016	O95347	SMC2_HUMAN			16	2386	+			700			Potential.		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.2098G>A	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	3.397	-0.123037	0.06795	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.79653	-1.29;-1.29;3.11;-1.29	5.43	4.42	0.53409	.	0.552403	0.20652	N	0.088185	T	0.54111	0.1838	N	0.08118	0	0.22401	N	0.999139	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.44406	-0.9330	10	0.06891	T	0.86	-10.1377	4.2964	0.10904	0.2985:0.0:0.7015:0.0	.	700;700	O95347;Q2KQ72	SMC2_HUMAN;.	K	700	ENSP00000286398:E700K;ENSP00000363925:E700K;ENSP00000306152:E700K;ENSP00000363919:E700K	ENSP00000286398:E700K	E	+	1	0	SMC2	105922230	0.968000	0.33430	1.000000	0.80357	0.906000	0.53458	1.094000	0.30951	2.542000	0.85734	0.585000	0.79938	GAG		0.353	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1				80	95	0	0	0	0.01441	0	80	95		
OR13C2	392376	broad.mit.edu	37	9	107367631	107367631	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:107367631G>A	ENST00000542196.1	-	1	320	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCCAGAAAGGGAAATGGTCTT	0.517																																						uc011lvq.1		NaN																	0				skin(1)	1						c.(277-279)TCC>TTC		olfactory receptor, family 13, subfamily C,							89.0	87.0	88.0					9																	107367631		2202	4299	6501	SO:0001583	missense	392376				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107367631G>A		CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.278C>T	9.37:g.107367631G>A	ENSP00000438815:p.Ser93Phe						p.S93F	NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN			1	278	-			93			Extracellular (Potential).		B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	37	c.278C>T	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389137	0.42410	.	.	ENSG00000257019	ENST00000542196	T	0.00745	5.75	3.53	3.53	0.40419	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35838	U	0.002946	T	0.03095	0.0091	M	0.93720	3.45	0.39034	D	0.960008	P	0.36438	0.553	B	0.41894	0.369	T	0.02868	-1.1100	10	0.87932	D	0	.	12.6245	0.56622	0.0:0.0:1.0:0.0	.	93	Q8NGS9	O13C2_HUMAN	F	93	ENSP00000438815:S93F	ENSP00000438815:S93F	S	-	2	0	OR13C2	106407452	1.000000	0.71417	0.325000	0.25375	0.548000	0.35241	5.064000	0.64338	1.807000	0.52817	0.462000	0.41574	TCC		0.517	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2		NM_001004481		51	59	0	0	0	0.01441	0	51	59		
SVEP1	79987	broad.mit.edu	37	9	113341490	113341490	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:113341490C>G	ENST00000401783.2	-	1	670	c.334G>C	c.(334-336)Gac>Cac	p.D112H	SVEP1_ENST00000374461.1_Missense_Mutation_p.D89H|SVEP1_ENST00000374469.1_Missense_Mutation_p.D89H|SVEP1_ENST00000302728.8_Missense_Mutation_p.D112H	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	112	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACGGGGAAGTCGGACAGCAGC	0.642																																						uc010mtz.2		NaN																	0				ovary(7)	7						c.(334-336)GAC>CAC		polydom							11.0	15.0	14.0					9																	113341490		2066	4170	6236	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113341490C>G	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.334G>C	9.37:g.113341490C>G	ENSP00000384917:p.Asp112His					SVEP1_uc010mua.1_Missense_Mutation_p.D112H|SVEP1_uc004beu.2_Missense_Mutation_p.D112H|uc004bew.1_5'Flank	p.D112H	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			1	671	-			112			VWFA.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.334G>C	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437409	0.83885	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	3.7	3.7	0.42460	von Willebrand factor, type A (3);	0.000000	0.85682	U	0.000000	D	0.84955	0.5587	L	0.55103	1.725	0.49299	D	0.999772	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.87180	0.2227	10	0.87932	D	0	.	15.4145	0.74956	0.0:1.0:0.0:0.0	.	112;112;112	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	H	112;89;112;89	ENSP00000384917:D112H;ENSP00000363593:D89H;ENSP00000304118:D112H;ENSP00000363585:D89H	ENSP00000304118:D112H	D	-	1	0	SVEP1	112381311	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.475000	0.81041	1.772000	0.52199	0.591000	0.81541	GAC		0.642	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					2	1	0	0	0	0.004672	0	2	1		
TLR4	7099	broad.mit.edu	37	9	120476771	120476771	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:120476771C>G	ENST00000355622.6	+	3	2466	c.2365C>G	c.(2365-2367)Ctc>Gtc	p.L789V	TLR4_ENST00000394487.4_Missense_Mutation_p.L749V|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	789	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|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 nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|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)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 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)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	GTACCGCCTTCTCAGCAGGAA	0.552																																						uc004bjz.2		NaN																	0				lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(2365-2367)CTC>GTC		toll-like receptor 4 precursor							76.0	75.0	75.0					9																	120476771		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|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 platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120476771C>G	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.2365C>G	9.37:g.120476771C>G	ENSP00000363089:p.Leu789Val					TLR4_uc004bka.2_Missense_Mutation_p.L749V|TLR4_uc004bkb.2_Missense_Mutation_p.L589V	p.L789V	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	2656	+			789			Cytoplasmic (Potential).|TIR.		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.2365C>G	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.817060	0.70912	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.03124	4.04;4.04	5.91	5.01	0.66863	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.64402	D	0.000015	T	0.13970	0.0338	L	0.49455	1.56	0.54753	D	0.999986	D	0.89917	1.0	D	0.97110	1.0	T	0.00063	-1.2155	10	0.87932	D	0	.	15.488	0.75582	0.0:0.9327:0.0:0.0673	.	789	O00206	TLR4_HUMAN	V	749;789	ENSP00000377997:L749V;ENSP00000363089:L789V	ENSP00000363089:L789V	L	+	1	0	TLR4	119516592	0.884000	0.30299	0.995000	0.50966	0.847000	0.48162	2.895000	0.48648	2.802000	0.96397	0.655000	0.94253	CTC		0.552	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3		NM_138554		50	55	0	0	0	0.01441	0	50	55		
PBX3	5090	broad.mit.edu	37	9	128677988	128677988	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:128677988G>T	ENST00000373489.5	+	3	314	c.298G>T	c.(298-300)Gag>Tag	p.E100*	PBX3_ENST00000447726.2_Nonsense_Mutation_p.E25*|PBX3_ENST00000373487.4_Nonsense_Mutation_p.E100*|PBX3_ENST00000373483.2_Intron|PBX3_ENST00000342287.5_Nonsense_Mutation_p.E100*|PBX3_ENST00000538998.1_3'UTR	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	100					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						AGGAGCCCAGGAGGAGGACCC	0.512																																						uc004bqb.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(298-300)GAG>TAG		pre-B-cell leukemia homeobox 3 isoform 1							37.0	39.0	38.0					9																	128677988		2203	4300	6503	SO:0001587	stop_gained	5090				anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity	g.chr9:128677988G>T		CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"""Homeoboxes / TALE class"""	8634	protein-coding gene	gene with protein product		176312	"""pre-B-cell leukemia transcription factor 3"""			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.298G>T	9.37:g.128677988G>T	ENSP00000362588:p.Glu100*					PBX3_uc004bqc.2_Intron|PBX3_uc004bqd.2_Intron|PBX3_uc011lzw.1_Nonsense_Mutation_p.E25*|PBX3_uc011lzx.1_Nonsense_Mutation_p.E11*|PBX3_uc004bqe.2_5'UTR	p.E100*	NM_006195	NP_006186	P40426	PBX3_HUMAN			3	414	+			100					E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Nonsense_Mutation	SNP	ENST00000373489.5	37	c.298G>T	CCDS6865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.31|18.31	3.596261|3.596261	0.66332|0.66332	.|.	.|.	ENSG00000167081|ENSG00000167081	ENST00000373489;ENST00000342287;ENST00000373487;ENST00000447726;ENST00000538998|ENST00000428092	.|D	.|0.83591	.|-1.74	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|D	.|0.89928	.|0.6857	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.87903	.|0.2692	.|5	0.38643|.	T|.	0.18|.	.|.	20.5827|20.5827	0.99408|0.99408	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	100;100;100;25;11|20	.|ENSP00000397903:G20V	ENSP00000341990:E100X|.	E|G	+|+	1|2	0|0	PBX3|PBX3	127717809|127717809	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.420000|9.420000	0.97426|0.97426	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.512	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417765.1				11	12	1	0	0.000673444	0.008291	0.000687153	11	12		
ZBTB34	403341	broad.mit.edu	37	9	129642198	129642198	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:129642198C>G	ENST00000373452.2	+	1	572	c.508C>G	c.(508-510)Cag>Gag	p.Q170E	ZBTB34_ENST00000319119.4_Missense_Mutation_p.Q174E			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	170					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(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						ATATTGCTCTCAGGGACGGCA	0.592																																						uc004bqm.3		NaN																	0				ovary(1)	1						c.(508-510)CAG>GAG		zinc finger and BTB domain containing 34							54.0	59.0	58.0					9																	129642198		2007	4171	6178	SO:0001583	missense	403341				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129642198C>G	DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.508C>G	9.37:g.129642198C>G	ENSP00000362551:p.Gln170Glu						p.Q170E	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN			2	605	+			170					Q38IA7|Q5VYE9	Missense_Mutation	SNP	ENST00000373452.2	37	c.508C>G	CCDS48023.1	.	.	.	.	.	.	.	.	.	.	C	8.971	0.972868	0.18736	.	.	ENSG00000177125	ENST00000319119;ENST00000373452	T;T	0.07688	3.17;3.17	5.54	5.54	0.83059	.	0.168395	0.49305	D	0.000152	T	0.05502	0.0145	N	0.19112	0.55	0.33714	D	0.616142	B	0.18741	0.03	B	0.14578	0.011	T	0.08953	-1.0697	10	0.02654	T	1	.	14.6525	0.68808	0.1455:0.8545:0.0:0.0	.	170	Q8NCN2	ZBT34_HUMAN	E	174;170	ENSP00000317534:Q174E;ENSP00000362551:Q170E	ENSP00000317534:Q174E	Q	+	1	0	ZBTB34	128682019	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.548000	0.53670	2.751000	0.94390	0.655000	0.94253	CAG		0.592	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001099270		40	46	0	0	0	0.01441	0	40	46		
ZBTB34	403341	broad.mit.edu	37	9	129642324	129642324	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:129642324G>C	ENST00000373452.2	+	1	698	c.634G>C	c.(634-636)Gag>Cag	p.E212Q	ZBTB34_ENST00000319119.4_Missense_Mutation_p.E216Q			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	212					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(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						TTCTGAATATGAGATTCAGAT	0.577																																						uc004bqm.3		NaN																	0				ovary(1)	1						c.(634-636)GAG>CAG		zinc finger and BTB domain containing 34							58.0	65.0	63.0					9																	129642324		2004	4150	6154	SO:0001583	missense	403341				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129642324G>C	DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.634G>C	9.37:g.129642324G>C	ENSP00000362551:p.Glu212Gln						p.E212Q	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN			2	731	+			212					Q38IA7|Q5VYE9	Missense_Mutation	SNP	ENST00000373452.2	37	c.634G>C	CCDS48023.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.720152	0.68844	.	.	ENSG00000177125	ENST00000319119;ENST00000373452	T;T	0.09163	3.01;3.02	5.54	5.54	0.83059	.	0.099352	0.64402	D	0.000002	T	0.12433	0.0302	L	0.27053	0.805	0.80722	D	1	P	0.51057	0.941	P	0.46389	0.515	T	0.15752	-1.0426	10	0.18710	T	0.47	.	19.8339	0.96646	0.0:0.0:1.0:0.0	.	212	Q8NCN2	ZBT34_HUMAN	Q	216;212	ENSP00000317534:E216Q;ENSP00000362551:E212Q	ENSP00000317534:E216Q	E	+	1	0	ZBTB34	128682145	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	9.092000	0.94157	2.751000	0.94390	0.655000	0.94253	GAG		0.577	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001099270		6	45	0	0	0	0.001984	0	6	45		
FAM129B	64855	broad.mit.edu	37	9	130280190	130280190	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:130280190G>C	ENST00000373312.3	-	6	833	c.620C>G	c.(619-621)cCt>cGt	p.P207R	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.P194R	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	207					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TGTGAACGCAGGGCCCTCTAC	0.612																																						uc004brh.2		NaN																	0					0						c.(619-621)CCT>CGT		hypothetical protein LOC64855 isoform 1							102.0	75.0	84.0					9																	130280190		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130280190G>C	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.620C>G	9.37:g.130280190G>C	ENSP00000362409:p.Pro207Arg					FAM129B_uc004bri.2_Missense_Mutation_p.P194R|FAM129B_uc004brj.3_Missense_Mutation_p.P207R	p.P207R	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN			6	822	-			207					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.620C>G	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	G	8.738	0.918225	0.17982	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.22134	1.97;1.97	4.84	4.84	0.62591	.	0.056729	0.64402	D	0.000001	T	0.25082	0.0609	M	0.61703	1.905	0.48571	D	0.999671	B;B	0.33583	0.418;0.418	B;B	0.34489	0.184;0.184	T	0.03483	-1.1032	10	0.33141	T	0.24	-15.4035	15.4334	0.75121	0.0:0.0:1.0:0.0	.	194;207	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	R	194;207	ENSP00000362411:P194R;ENSP00000362409:P207R	ENSP00000362409:P207R	P	-	2	0	FAM129B	129320011	1.000000	0.71417	0.927000	0.36925	0.673000	0.39480	8.757000	0.91657	2.229000	0.72834	0.561000	0.74099	CCT		0.612	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1		NM_022833		21	17	0	0	0	0.00278	0	21	17		
GOLGA2	2801	broad.mit.edu	37	9	131023520	131023520	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:131023520C>T	ENST00000421699.2	-	16	1282	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K	GOLGA2_ENST00000609374.1_Missense_Mutation_p.E412K	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	424					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						CATTCCTTCTCCTCTCTCAAT	0.607																																						uc011maw.1		NaN																	0				ovary(1)	1						c.(1270-1272)GAG>AAG		Golgi autoantigen, golgin subfamily a, 2							116.0	114.0	114.0					9																	131023520		2203	4300	6503	SO:0001583	missense	2801					Golgi cisterna membrane	protein binding	g.chr9:131023520C>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.1270G>A	9.37:g.131023520C>T	ENSP00000416097:p.Glu424Lys					GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_5'Flank|GOLGA2_uc004bul.1_Missense_Mutation_p.E325K|uc004bun.2_5'Flank	p.E424K	NM_004486	NP_004477	Q08379	GOGA2_HUMAN			16	1283	-			424			Potential.		Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	c.1270G>A	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	c	18.23	3.577877	0.65878	.	.	ENSG00000167110	ENST00000421699;ENST00000450617	T;T	0.36340	1.26;1.26	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	M	0.88640	2.97	0.49051	D	0.999745	D	0.89917	1.0	D	0.87578	0.998	T	0.71474	-0.4582	10	0.46703	T	0.11	.	16.5558	0.84484	0.0:1.0:0.0:0.0	.	424	Q08379	GOGA2_HUMAN	K	424;451	ENSP00000416097:E424K;ENSP00000409271:E451K	ENSP00000416097:E424K	E	-	1	0	GOLGA2	130063341	0.996000	0.38824	0.952000	0.39060	0.435000	0.31806	3.561000	0.53770	2.342000	0.79632	0.305000	0.20034	GAG		0.607	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2		NM_004486		16	160	0	0	0	0.007413	0	16	160		
SPTAN1	6709	broad.mit.edu	37	9	131346753	131346753	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:131346753G>C	ENST00000372731.4	+	17	2496	c.2386G>C	c.(2386-2388)Gag>Cag	p.E796Q	SPTAN1_ENST00000358161.5_Missense_Mutation_p.E796Q|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E796Q	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	796					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGTTGAGGATGAGGAGACGTG	0.562																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(2386-2388)GAG>CAG		spectrin, alpha, non-erythrocytic 1							56.0	55.0	55.0					9																	131346753		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131346753G>C	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.2386G>C	9.37:g.131346753G>C	ENSP00000361816:p.Glu796Gln					SPTAN1_uc011mbg.1_Missense_Mutation_p.E796Q|SPTAN1_uc011mbh.1_Missense_Mutation_p.E808Q|SPTAN1_uc004bvm.3_Missense_Mutation_p.E796Q|SPTAN1_uc004bvn.3_Missense_Mutation_p.E796Q	p.E796Q	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			17	2499	+			796			Spectrin 9.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.2386G>C	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746574	0.89663	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.51325	0.71;0.71;0.71	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.72827	0.3509	M	0.83223	2.63	0.80722	D	1	D;D;D;D;D	0.89917	0.991;0.997;1.0;0.993;1.0	D;D;D;D;D	0.91635	0.982;0.992;0.999;0.962;0.999	T	0.75923	-0.3146	10	0.66056	D	0.02	.	18.6794	0.91541	0.0:0.0:1.0:0.0	.	796;796;796;796;796	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	Q	796	ENSP00000350882:E796Q;ENSP00000361816:E796Q;ENSP00000361824:E796Q	ENSP00000350882:E796Q	E	+	1	0	SPTAN1	130386574	1.000000	0.71417	0.998000	0.56505	0.787000	0.44495	9.372000	0.97165	2.654000	0.90174	0.561000	0.74099	GAG		0.562	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		13	26	0	0	0	0.00245	0	13	26		
SPTAN1	6709	broad.mit.edu	37	9	131348070	131348070	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:131348070G>A	ENST00000372731.4	+	19	2714	c.2604G>A	c.(2602-2604)ctG>ctA	p.L868L	SPTAN1_ENST00000358161.5_Silent_p.L868L|SPTAN1_ENST00000372739.3_Silent_p.L868L	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	868					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TTCACGAGCTGAACCAAAAGT	0.527																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(2602-2604)CTG>CTA		spectrin, alpha, non-erythrocytic 1							85.0	81.0	83.0					9																	131348070		2203	4300	6503	SO:0001819	synonymous_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131348070G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.2604G>A	9.37:g.131348070G>A						SPTAN1_uc011mbg.1_Silent_p.L868L|SPTAN1_uc011mbh.1_Silent_p.L880L|SPTAN1_uc004bvm.3_Silent_p.L868L|SPTAN1_uc004bvn.3_Silent_p.L868L	p.L868L	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			19	2717	+			868			Spectrin 9.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	c.2604G>A	CCDS6905.1																																																																																				0.527	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		28	61	0	0	0	0.009535	0	28	61		
SPTAN1	6709	broad.mit.edu	37	9	131348091	131348091	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:131348091G>A	ENST00000372731.4	+	19	2735	c.2625G>A	c.(2623-2625)ctG>ctA	p.L875L	SPTAN1_ENST00000358161.5_Silent_p.L875L|SPTAN1_ENST00000372739.3_Silent_p.L875L	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	875					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGGAGGCACTGAAAGCCAAAG	0.537																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(2623-2625)CTG>CTA		spectrin, alpha, non-erythrocytic 1							87.0	83.0	85.0					9																	131348091		2203	4300	6503	SO:0001819	synonymous_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131348091G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.2625G>A	9.37:g.131348091G>A						SPTAN1_uc011mbg.1_Silent_p.L875L|SPTAN1_uc011mbh.1_Silent_p.L887L|SPTAN1_uc004bvm.3_Silent_p.L875L|SPTAN1_uc004bvn.3_Silent_p.L875L	p.L875L	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			19	2738	+			875			Spectrin 9.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	c.2625G>A	CCDS6905.1																																																																																				0.537	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		31	51	0	0	0	0.004289	0	31	51		
BRD3	8019	broad.mit.edu	37	9	136917464	136917464	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:136917464G>A	ENST00000303407.7	-	3	500	c.315C>T	c.(313-315)ttC>ttT	p.F105F	BRD3_ENST00000371834.2_Silent_p.F105F|BRD3_ENST00000357885.2_Silent_p.F105F|RP11-374P20.4_ENST00000412181.1_RNA	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	105	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		ACATGGTGTTGAAGTCCTGCA	0.398			T	C15orf55	lethal midline carcinoma of young people																																	uc004cew.2		NaN		Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	NUT|C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				stomach(4)|midline_organs(3)|kidney(1)	8						c.(313-315)TTC>TTT		bromodomain containing protein 3							103.0	105.0	105.0					9																	136917464		2203	4300	6503	SO:0001819	synonymous_variant	8019					nucleus	protein binding	g.chr9:136917464G>A		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.315C>T	9.37:g.136917464G>A						BRD3_uc004cex.2_Silent_p.F105F	p.F105F	NM_007371	NP_031397	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	3	503	-			105			Bromo 1.		B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Silent	SNP	ENST00000303407.7	37	c.315C>T	CCDS6980.1																																																																																				0.398	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4		NM_007371		5	52	0	0	0	0.000602	0	5	52		
UAP1L1	91373	broad.mit.edu	37	9	139973451	139973451	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:139973451G>A	ENST00000409858.3	+	4	726	c.694G>A	c.(694-696)Gcg>Acg	p.A232T	UAP1L1_ENST00000360271.3_Missense_Mutation_p.A109T|UAP1L1_ENST00000476184.1_3'UTR	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	232							uridylyltransferase activity (GO:0070569)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CCTCTACTGCGCGCTGGAGGA	0.652																																						uc010ncb.2		NaN																	0				ovary(1)	1						c.(694-696)GCG>ACG		UDP-N-acteylglucosamine pyrophosphorylase 1-like							82.0	83.0	83.0					9																	139973451		2203	4300	6503	SO:0001583	missense	91373						nucleotidyltransferase activity	g.chr9:139973451G>A	AK022632	CCDS7028.2	9q34.3	2014-07-31	2014-07-31		ENSG00000197355	ENSG00000197355			28082	protein-coding gene	gene with protein product							Standard	NM_207309		Approved		uc010ncb.3	Q3KQV9	OTTHUMG00000020962	ENST00000409858.3:c.694G>A	9.37:g.139973451G>A	ENSP00000386935:p.Ala232Thr					UAP1L1_uc004cla.3_Missense_Mutation_p.A109T	p.A232T	NM_207309	NP_997192	Q3KQV9	UAP1L_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	4	726	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	232					A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Missense_Mutation	SNP	ENST00000409858.3	37	c.694G>A	CCDS7028.2	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598402	0.66332	.	.	ENSG00000197355	ENST00000409858;ENST00000360271	T;T	0.19806	2.12;2.12	4.86	4.86	0.63082	.	0.116764	0.64402	D	0.000018	T	0.56934	0.2019	M	0.93062	3.375	0.51233	D	0.999919	D;D	0.89917	1.0;0.996	D;P	0.77004	0.989;0.765	T	0.69899	-0.5020	10	0.87932	D	0	.	16.9698	0.86296	0.0:0.0:1.0:0.0	.	232;109	Q3KQV9;Q3KQV9-2	UAP1L_HUMAN;.	T	232;109	ENSP00000386935:A232T;ENSP00000353409:A109T	ENSP00000353409:A109T	A	+	1	0	UAP1L1	139093272	1.000000	0.71417	0.054000	0.19295	0.041000	0.13682	7.358000	0.79466	2.259000	0.74868	0.561000	0.74099	GCG		0.652	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055216.2		XM_038063		37	36	0	0	0	0.01441	0	37	36		
TUBB4B	10383	broad.mit.edu	37	9	140137804	140137804	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:140137804C>G	ENST00000340384.4	+	4	1282	c.1134C>G	c.(1132-1134)ttC>ttG	p.F378L		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	378					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)									Albendazole(DB00518)|Mebendazole(DB00643)	AGGAGCTGTTCAAGCGCATCT	0.597																																						uc004cmh.1		NaN																	0				ovary(1)	1						c.(1132-1134)TTC>TTG		tubulin, beta, 2							103.0	101.0	102.0					9																	140137804		2202	4299	6501	SO:0001583	missense	10383				'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding	g.chr9:140137804C>G	BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"""Tubulins"""	20771	protein-coding gene	gene with protein product	"""class IVb beta-tubulin"""	602660	"""tubulin, beta 2C"""	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.1134C>G	9.37:g.140137804C>G	ENSP00000341289:p.Phe378Leu					TUBB2C_uc004cmg.1_Missense_Mutation_p.F232L	p.F378L	NM_006088	NP_006079	P68371	TBB2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	4	1236	+	all_cancers(76;0.0926)		378					A2BFA2|P05217	Missense_Mutation	SNP	ENST00000340384.4	37	c.1134C>G	CCDS7039.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.148730	0.57151	.	.	ENSG00000188229	ENST00000340384	D	0.89415	-2.51	5.57	3.39	0.38822	.	0.000000	0.85682	D	0.000000	D	0.94676	0.8283	M	0.93594	3.435	0.52099	D	0.999948	P	0.47484	0.896	P	0.58820	0.846	D	0.95391	0.8481	10	0.87932	D	0	.	12.019	0.53331	0.0:0.8308:0.0:0.1692	.	378	P68371	TBB4B_HUMAN	L	378	ENSP00000341289:F378L	ENSP00000341289:F378L	F	+	3	2	TUBB2C	139257625	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.603000	0.46266	1.347000	0.45714	0.655000	0.94253	TTC		0.597	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254715.1		NM_006088		82	171	0	0	0	0.01441	0	82	171		
SHROOM2	357	broad.mit.edu	37	X	9863321	9863321	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:9863321C>T	ENST00000380913.3	+	4	1463	c.1373C>T	c.(1372-1374)cCt>cTt	p.P458L		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	458					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GACAGCCCTCCTCAGGTGAGG	0.677																																						uc004csu.1		NaN																	0				ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1372-1374)CCT>CTT		apical protein of Xenopus-like							25.0	27.0	26.0					X																	9863321		2203	4294	6497	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9863321C>T	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.1373C>T	X.37:g.9863321C>T	ENSP00000370299:p.Pro458Leu						p.P458L	NM_001649	NP_001640	Q13796	SHRM2_HUMAN			4	1463	+		Hepatocellular(5;0.000888)	458					B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.1373C>T	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.414575	0.25465	.	.	ENSG00000146950	ENST00000380913	T	0.15372	2.43	4.57	3.71	0.42584	.	2.559340	0.01488	N	0.016940	T	0.13756	0.0333	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.21280	-1.0250	10	0.33940	T	0.23	-0.0779	5.4225	0.16407	0.2136:0.6779:0.0:0.1085	.	458	Q13796	SHRM2_HUMAN	L	458	ENSP00000370299:P458L	ENSP00000370299:P458L	P	+	2	0	SHROOM2	9823321	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	0.676000	0.25247	0.760000	0.33108	0.600000	0.82982	CCT		0.677	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1		NM_001649		6	26	0	0	0	0.001984	0	6	26		
MID1	4281	broad.mit.edu	37	X	10427830	10427830	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:10427830C>G	ENST00000317552.4	-	8	1703	c.1303G>C	c.(1303-1305)Gat>Cat	p.D435H	MID1_ENST00000380785.1_Missense_Mutation_p.D435H|MID1_ENST00000453318.2_Missense_Mutation_p.D435H|MID1_ENST00000380779.1_Missense_Mutation_p.D435H|MID1_ENST00000380780.1_Missense_Mutation_p.D435H|MID1_ENST00000380787.1_Missense_Mutation_p.D435H|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380782.2_Missense_Mutation_p.D435H	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	435	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.D435N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						ATCCAGCTATCAGCCGAATTA	0.463																																						uc004cte.3		NaN																	1	Substitution - Missense(1)		breast(1)	ovary(2)|pancreas(1)	3						c.(1303-1305)GAT>CAT		midline 1							209.0	148.0	169.0					X																	10427830		2203	4300	6503	SO:0001583	missense	4281				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10427830C>G	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1303G>C	X.37:g.10427830C>G	ENSP00000312678:p.Asp435His					MID1_uc004ctd.3_Missense_Mutation_p.D146H|MID1_uc004ctg.3_Missense_Mutation_p.D435H|MID1_uc004cth.3_Missense_Mutation_p.D397H|MID1_uc004ctk.3_Missense_Mutation_p.D435H|MID1_uc004cti.3_Missense_Mutation_p.D435H|MID1_uc004ctj.3_Missense_Mutation_p.D435H|MID1_uc011mie.1_RNA|MID1_uc004csz.3_Missense_Mutation_p.D107H|MID1_uc004cta.3_Missense_Mutation_p.D191H|MID1_uc004ctb.3_Missense_Mutation_p.D95H|MID1_uc004ctc.3_Missense_Mutation_p.D202H	p.D435H	NM_033290	NP_150632	O15344	TRI18_HUMAN			8	1494	-			435			Fibronectin type-III.		B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	c.1303G>C	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274462	0.80580	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894	T;T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36	5.34	5.34	0.76211	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.047732	0.85682	D	0.000000	T	0.65302	0.2678	L	0.43152	1.355	0.80722	D	1	D;D;D	0.60160	0.987;0.987;0.975	D;D;D	0.69654	0.965;0.965;0.965	T	0.62383	-0.6866	10	0.33940	T	0.23	.	18.1827	0.89783	0.0:1.0:0.0:0.0	.	435;435;385	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	H	435;435;435;435;435;435;435;385;435	ENSP00000414521:D435H;ENSP00000312678:D435H;ENSP00000370162:D435H;ENSP00000370156:D435H;ENSP00000370164:D435H;ENSP00000370157:D435H;ENSP00000370159:D435H;ENSP00000391154:D435H	ENSP00000312678:D435H	D	-	1	0	MID1	10387830	1.000000	0.71417	0.664000	0.29753	0.916000	0.54674	5.629000	0.67798	2.231000	0.72958	0.594000	0.82650	GAT		0.463	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1				9	144	0	0	0	0.013537	0	9	144		
FAM47C	442444	broad.mit.edu	37	X	37027200	37027200	+	Silent	SNP	A	A	C	rs201507521		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:37027200A>C	ENST00000358047.3	+	1	769	c.717A>C	c.(715-717)ccA>ccC	p.P239P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	239										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						TGGAGCCTCCAGAGACTGGAG	0.637																																						uc004ddl.1		NaN																	0				ovary(3)	3						c.(715-717)CCA>CCC		hypothetical protein LOC442444							48.0	46.0	47.0					X																	37027200		2202	4300	6502	SO:0001819	synonymous_variant	442444							g.chrX:37027200A>C	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.717A>C	X.37:g.37027200A>C							p.P239P	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	731	+			239					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.717A>C	CCDS35227.1																																																																																				0.637	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1		NM_001013736		3	71	0	0	0	0.004672	0	3	71		
HUWE1	10075	broad.mit.edu	37	X	53617425	53617425	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:53617425C>G	ENST00000342160.3	-	34	4587	c.4130G>C	c.(4129-4131)aGa>aCa	p.R1377T	HUWE1_ENST00000262854.6_Missense_Mutation_p.R1377T|HUWE1_ENST00000218328.8_Missense_Mutation_p.R1377T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1377					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGCAATTGCTCTCATCATCTG	0.443																																						uc004dsp.2		NaN																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(4129-4131)AGA>ACA		HECT, UBA and WWE domain containing 1							192.0	155.0	167.0					X																	53617425		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53617425C>G	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.4130G>C	X.37:g.53617425C>G	ENSP00000340648:p.Arg1377Thr					HUWE1_uc004dsn.2_Missense_Mutation_p.R202T	p.R1377T	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			35	4532	-			1377			UIM.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.4130G>C	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.413944|4.413944	0.83449|0.83449	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854;ENST00000218328	.|T;T;T	.|0.50277	.|1.04;1.04;0.75	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Armadillo-like helical (1);	.|0.110222	.|0.64402	.|D	.|0.000013	T|T	0.57257|0.57257	0.2041|0.2041	L|L	0.27053|0.27053	0.805|0.805	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D	.|0.61080	.|0.967;0.989	.|D;D	.|0.75020	.|0.916;0.985	T|T	0.54886|0.54886	-0.8226|-0.8226	5|10	.|0.37606	.|T	.|0.19	.|.	17.9436|17.9436	0.89032|0.89032	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1377;1377	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	D|T	410|1377	.|ENSP00000340648:R1377T;ENSP00000262854:R1377T;ENSP00000218328:R1377T	.|ENSP00000218328:R1377T	E|R	-|-	3|2	2|0	HUWE1|HUWE1	53634150|53634150	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.392000|7.392000	0.79840|0.79840	2.513000|2.513000	0.84729|0.84729	0.600000|0.600000	0.82982|0.82982	GAG|AGA		0.443	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1		XM_497119		103	9	0	0	0	0.01441	0	103	9		
OTUD6A	139562	broad.mit.edu	37	X	69282408	69282408	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:69282408C>G	ENST00000338352.2	+	1	68	c.34C>G	c.(34-36)Ctg>Gtg	p.L12V		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	12					protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						GCAGCGCATACTGCGCCGCCA	0.532																																						uc004dxu.1		NaN																	0				lung(1)|skin(1)	2						c.(34-36)CTG>GTG		OTU domain containing 6A							19.0	19.0	19.0					X																	69282408		2203	4300	6503	SO:0001583	missense	139562							g.chrX:69282408C>G	AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"""OTU domain containing"""	32312	protein-coding gene	gene with protein product		300714	"""OTU domain containing 6A"""			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.34C>G	X.37:g.69282408C>G	ENSP00000339389:p.Leu12Val						p.L12V	NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN			1	68	+			12					B2RPB7	Missense_Mutation	SNP	ENST00000338352.2	37	c.34C>G	CCDS14395.1	.	.	.	.	.	.	.	.	.	.	c	0.010	-1.795437	0.00617	.	.	ENSG00000189401	ENST00000338352	T	0.49139	0.79	4.22	-8.44	0.00950	.	1.236740	0.05497	N	0.557769	T	0.18383	0.0441	N	0.05487	-0.04	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.07158	-1.0787	10	0.11182	T	0.66	.	2.5773	0.04809	0.1115:0.2756:0.1554:0.4575	.	12	Q7L8S5	OTU6A_HUMAN	V	12	ENSP00000339389:L12V	ENSP00000339389:L12V	L	+	1	2	OTUD6A	69199133	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.075000	0.00616	-4.322000	0.00056	-1.224000	0.01588	CTG		0.532	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358763.1		NM_207320		3	10	0	0	0	0.004672	0	3	10		
BRWD3	254065	broad.mit.edu	37	X	79936980	79936980	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:79936980C>G	ENST00000373275.4	-	40	4730	c.4514G>C	c.(4513-4515)gGg>gCg	p.G1505A	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1505					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TAGTGAAAGCCCTTCAGCAGC	0.373																																						uc004edt.2		NaN																	0				ovary(4)	4						c.(4513-4515)GGG>GCG		bromodomain and WD repeat domain containing 3							76.0	68.0	71.0					X																	79936980		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79936980C>G		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4514G>C	X.37:g.79936980C>G	ENSP00000362372:p.Gly1505Ala					BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.G1101A|BRWD3_uc004edp.2_Missense_Mutation_p.G1334A|BRWD3_uc004edq.2_Missense_Mutation_p.G1101A|BRWD3_uc010nmj.1_Missense_Mutation_p.G1101A|BRWD3_uc004edr.2_Missense_Mutation_p.G1175A|BRWD3_uc004eds.2_Missense_Mutation_p.G1101A|BRWD3_uc004edu.2_Missense_Mutation_p.G1175A|BRWD3_uc004edv.2_Missense_Mutation_p.G1101A|BRWD3_uc004edw.2_Missense_Mutation_p.G1101A|BRWD3_uc004edx.2_Missense_Mutation_p.G1101A|BRWD3_uc004edy.2_Missense_Mutation_p.G1101A|BRWD3_uc004edz.2_Missense_Mutation_p.G1175A|BRWD3_uc004eea.2_Missense_Mutation_p.G1175A|BRWD3_uc004eeb.2_Missense_Mutation_p.G1101A	p.G1505A	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			40	4777	-			1505					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.4514G>C	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	7.195	0.592385	0.13812	.	.	ENSG00000165288	ENST00000373275	T	0.52295	0.67	4.3	3.42	0.39159	.	0.261096	0.39544	N	0.001330	T	0.16471	0.0396	N	0.03608	-0.345	0.31564	N	0.657138	B	0.32918	0.39	B	0.24541	0.054	T	0.07578	-1.0765	9	.	.	.	-10.5712	3.8344	0.08888	0.0:0.6954:0.0:0.3046	.	1505	Q6RI45	BRWD3_HUMAN	A	1505	ENSP00000362372:G1505A	.	G	-	2	0	BRWD3	79823636	1.000000	0.71417	0.995000	0.50966	0.891000	0.51852	3.272000	0.51616	2.095000	0.63458	0.415000	0.27848	GGG		0.373	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1		NM_153252		5	33	0	0	0	0.000602	0	5	33		
PCDH19	57526	broad.mit.edu	37	X	99663097	99663097	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:99663097C>G	ENST00000373034.4	-	1	2174	c.499G>C	c.(499-501)Gag>Cag	p.E167Q	PCDH19_ENST00000255531.7_Missense_Mutation_p.E167Q|PCDH19_ENST00000420881.2_Missense_Mutation_p.E167Q	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	167	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)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GGCGTGAGCTCGTAAGTCTGC	0.637																																						uc010nmz.2		NaN																	0				ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(499-501)GAG>CAG		protocadherin 19 isoform b							50.0	51.0	51.0					X																	99663097		2108	4189	6297	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99663097C>G	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.499G>C	X.37:g.99663097C>G	ENSP00000362125:p.Glu167Gln					PCDH19_uc004efw.3_Missense_Mutation_p.E167Q|PCDH19_uc004efx.3_Missense_Mutation_p.E167Q	p.E167Q	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			1	2175	-			167			Cadherin 2.|Extracellular (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.499G>C	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	4.297	0.054325	0.08291	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.51817	0.69;0.69;0.69	5.7	5.7	0.88788	Cadherin (4);Cadherin-like (1);	0.224363	0.47852	D	0.000215	T	0.23451	0.0567	N	0.03999	-0.3	0.36768	D	0.883653	B;B;B	0.25235	0.121;0.003;0.004	B;B;B	0.18871	0.023;0.007;0.012	T	0.22765	-1.0207	10	0.02654	T	1	.	15.835	0.78791	0.0:0.8679:0.1321:0.0	.	167;167;167	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	Q	167	ENSP00000400327:E167Q;ENSP00000362125:E167Q;ENSP00000255531:E167Q	ENSP00000255531:E167Q	E	-	1	0	PCDH19	99549753	0.907000	0.30839	0.939000	0.37840	0.884000	0.51177	1.839000	0.39220	2.385000	0.81259	0.544000	0.68410	GAG		0.637	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2		NM_020766		39	5	0	0	0	0.005524	0	39	5		
MORC4	79710	broad.mit.edu	37	X	106243186	106243186	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:106243186C>T	ENST00000355610.4	-	1	288	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	MORC4_ENST00000535534.1_5'UTR|MORC4_ENST00000255495.7_Missense_Mutation_p.R5Q	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	5						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						gggggccccTCGGTACAGGAG	0.766																																						uc004emu.3		NaN																	0				ovary(1)	1						c.(13-15)CGA>CAA		zinc finger, CW type with coiled-coil domain 2							9.0	11.0	10.0					X																	106243186		1499	3485	4984	SO:0001583	missense	79710						ATP binding|zinc ion binding	g.chrX:106243186C>T	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.14G>A	X.37:g.106243186C>T	ENSP00000347821:p.Arg5Gln					MORC4_uc004emv.3_Missense_Mutation_p.R5Q|MORC4_uc004emw.3_5'UTR	p.R5Q	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN			1	257	-			5					A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	37	c.14G>A	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009555	0.54361	.	.	ENSG00000133131	ENST00000355610;ENST00000255495	T;T	0.14266	2.56;2.52	3.16	3.16	0.36331	.	0.257079	0.20725	N	0.086833	T	0.17323	0.0416	N	0.19112	0.55	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.61201	0.885;0.885	T	0.02161	-1.1203	10	0.62326	D	0.03	-6.0911	9.0087	0.36129	0.0:1.0:0.0:0.0	.	5;5	A1YR23;Q8TE76	.;MORC4_HUMAN	Q	5	ENSP00000347821:R5Q;ENSP00000255495:R5Q	ENSP00000255495:R5Q	R	-	2	0	MORC4	106129842	1.000000	0.71417	0.988000	0.46212	0.234000	0.25298	2.760000	0.47581	1.861000	0.53984	0.279000	0.19357	CGA		0.766	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3		NM_024657		6	0	0	0	0	0.00308	0	6	0		
BCORL1	63035	broad.mit.edu	37	X	129149373	129149373	+	Silent	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:129149373C>G	ENST00000218147.7	+	4	2822	c.2625C>G	c.(2623-2625)ctC>ctG	p.L875L	BCORL1_ENST00000359304.2_Silent_p.L875L|BCORL1_ENST00000303743.5_Silent_p.L875L|BCORL1_ENST00000540052.1_Silent_p.L875L			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	875					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGCCATCTCTCAGCTCCAGCG	0.602																																						uc004evb.1		NaN																	0				ovary(4)|breast(2)|lung(1)	7						c.(2623-2625)CTC>CTG		BCL6 co-repressor-like 1							41.0	39.0	40.0					X																	129149373		2203	4299	6502	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129149373C>G	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2625C>G	X.37:g.129149373C>G						BCORL1_uc010nrd.1_Silent_p.L777L	p.L875L	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			4	2739	+			875					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.2625C>G	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	C	0.296	-0.976940	0.02197	.	.	ENSG00000085185	ENST00000441294	.	.	.	5.31	1.94	0.25998	.	.	.	.	.	T	0.30479	0.0766	.	.	.	0.26297	N	0.978033	.	.	.	.	.	.	T	0.23368	-1.0190	4	.	.	.	-3.3758	5.0455	0.14480	0.0:0.3335:0.2695:0.397	.	.	.	.	E	311	.	.	Q	+	1	0	BCORL1	128977054	0.000000	0.05858	0.520000	0.27837	0.680000	0.39746	-0.945000	0.03909	-0.098000	0.12285	-0.395000	0.06472	CAG		0.602	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1		NM_021946		5	30	0	0	0	0.000602	0	5	30		
BCORL1	63035	broad.mit.edu	37	X	129149590	129149590	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:129149590C>T	ENST00000218147.7	+	4	3039	c.2842C>T	c.(2842-2844)Cag>Tag	p.Q948*	BCORL1_ENST00000359304.2_Nonsense_Mutation_p.Q948*|BCORL1_ENST00000303743.5_Nonsense_Mutation_p.Q948*|BCORL1_ENST00000540052.1_Nonsense_Mutation_p.Q948*			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	948					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCGAATGAATCAGGGGCCTGA	0.567																																						uc004evb.1		NaN																	0				ovary(4)|breast(2)|lung(1)	7						c.(2842-2844)CAG>TAG		BCL6 co-repressor-like 1							63.0	58.0	60.0					X																	129149590		2203	4300	6503	SO:0001587	stop_gained	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129149590C>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2842C>T	X.37:g.129149590C>T	ENSP00000218147:p.Gln948*					BCORL1_uc010nrd.1_Nonsense_Mutation_p.Q850*	p.Q948*	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			4	2956	+			948					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Nonsense_Mutation	SNP	ENST00000218147.7	37	c.2842C>T	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.291486|6.291486	0.97449|0.97449	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822|ENST00000441294	.|.	.|.	.|.	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	0.492716|.	0.15260|.	N|.	0.271821|.	.|T	.|0.72195	.|0.3430	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74163	.|-0.3754	.|3	0.15499|.	T|.	0.54|.	-3.5991|-3.5991	16.6968|16.6968	0.85338|0.85338	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	948;948;948;948;548|383	.|.	ENSP00000218147:Q948X|.	Q|S	+|+	1|2	0|0	BCORL1|BCORL1	128977271|128977271	0.984000|0.984000	0.35163|0.35163	0.980000|0.980000	0.43619|0.43619	0.933000|0.933000	0.57130|0.57130	2.290000|2.290000	0.43531|0.43531	2.147000|2.147000	0.66899|0.66899	0.529000|0.529000	0.55759|0.55759	CAG|TCA		0.567	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1		NM_021946		8	49	0	0	0	0.006214	0	8	49		
ENOX2	10495	broad.mit.edu	37	X	129790591	129790591	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:129790591C>G	ENST00000370927.1	-	8	1201	c.1180G>C	c.(1180-1182)Gaa>Caa	p.E394Q	ENOX2_ENST00000338144.3_Missense_Mutation_p.E394Q|ENOX2_ENST00000370935.1_Missense_Mutation_p.E365Q|ENOX2_ENST00000394363.1_Missense_Mutation_p.E365Q			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	394					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GTCATTTCTTCTATTTCATCA	0.299																																					Ovarian(101;828 1506 2951 9500 35258)	uc004evw.2		NaN																	0				ovary(1)	1						c.(1180-1182)GAA>CAA		ecto-NOX disulfide-thiol exchanger 2 isoform b							152.0	127.0	135.0					X																	129790591		2202	4300	6502	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129790591C>G	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1180G>C	X.37:g.129790591C>G	ENSP00000359965:p.Glu394Gln					ENOX2_uc004evx.2_Missense_Mutation_p.E365Q|ENOX2_uc004evy.2_Missense_Mutation_p.E365Q|ENOX2_uc004evv.2_Missense_Mutation_p.E221Q	p.E394Q	NM_182314	NP_872114	Q16206	ENOX2_HUMAN			11	1598	-			394			Potential.		A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.1180G>C	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.581715	0.65992	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	T;T	0.30714	1.52;1.52	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.39226	0.1070	M	0.64997	1.995	0.49389	D	0.999787	P;P	0.46706	0.725;0.883	B;P	0.47981	0.424;0.563	T	0.20338	-1.0278	9	.	.	.	-17.7399	13.9359	0.64026	0.0:1.0:0.0:0.0	.	394;422	Q16206;A4QPE1	ENOX2_HUMAN;.	Q	365;365;394;365;422;394;365	ENSP00000337146:E394Q;ENSP00000359965:E394Q	.	E	-	1	0	ENOX2	129618272	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.978000	0.76147	2.156000	0.67533	0.600000	0.82982	GAA		0.299	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1		NM_182314		46	4	0	0	0	0.01441	0	46	4		
CNGA2	1260	broad.mit.edu	37	X	150911830	150911830	+	Silent	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:150911830C>A	ENST00000329903.4	+	6	888	c.855C>A	c.(853-855)atC>atA	p.I285I		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	285					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTGGTCATCATCCACTGGA	0.493																																						uc004fey.1		NaN																	0				breast(3)	3						c.(853-855)ATC>ATA		cyclic nucleotide gated channel alpha 2							185.0	154.0	164.0					X																	150911830		2203	4300	6503	SO:0001819	synonymous_variant	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150911830C>A	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.855C>A	X.37:g.150911830C>A							p.I285I	NM_005140	NP_005131	Q16280	CNGA2_HUMAN			7	1079	+	Acute lymphoblastic leukemia(192;6.56e-05)		285			Helical; Name=H4; (Potential).		A0AVD0	Silent	SNP	ENST00000329903.4	37	c.855C>A	CCDS14701.1																																																																																				0.493	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1		NM_005140		111	22	1	0	3.13773e-49	0.01441	3.40063e-49	111	22		
F8	2157	broad.mit.edu	37	X	154227805	154227805	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:154227805C>G	ENST00000360256.4	-	2	414	c.214G>C	c.(214-216)Gaa>Caa	p.E72Q		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	72	F5/8 type A 1.|Plastocyanin-like 1.		E -> K (in HEMA; moderate). {ECO:0000269|PubMed:12930394}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCGTGAATTCTACAAACAGA	0.388																																						uc004fmt.2		NaN																	0				ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	GRCh37	CM031979|CM080250	F8	M		c.(214-216)GAA>CAA		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						174.0	156.0	162.0					X																	154227805		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154227805C>G	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.214G>C	X.37:g.154227805C>G	ENSP00000353393:p.Glu72Gln					F8_uc011mzx.1_Missense_Mutation_p.E37Q	p.E72Q	NM_000132	NP_000123	P00451	FA8_HUMAN			2	385	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		72		E -> K (in HEMA; moderate).	Plastocyanin-like 1.|F5/8 type A 1.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.214G>C	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797976	0.70567	.	.	ENSG00000185010	ENST00000360256;ENST00000423959;ENST00000453950	D;D;D	0.99113	-5.44;-5.44;-5.44	5.0	5.0	0.66597	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.98689	0.9560	L	0.46819	1.47	0.33801	D	0.626706	D;D	0.89917	0.999;1.0	P;D	0.87578	0.814;0.998	D	0.99960	1.1715	10	0.36615	T	0.2	-18.8292	12.7284	0.57185	0.0:1.0:0.0:0.0	.	37;72	B1B0G8;P00451	.;FA8_HUMAN	Q	72;37;66	ENSP00000353393:E72Q;ENSP00000409446:E37Q;ENSP00000389153:E66Q	ENSP00000353393:E72Q	E	-	1	0	F8	153880999	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	4.715000	0.61909	2.057000	0.61298	0.284000	0.19432	GAA		0.388	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4				23	91	0	0	0	0.007291	0	23	91		
SPEN	23013	broad.mit.edu	37	1	16262459	16262460	+	Frame_Shift_Ins	INS	-	-	C	rs370384298		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:16262459_16262460insC	ENST00000375759.3	+	11	9928_9929	c.9724_9725insC	c.(9724-9726)gccfs	p.A3242fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3242	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGCCAAAGCTgcccccaccccc	0.683																																						uc001axk.1		NaN																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(9724-9726)GCCfs		spen homolog, transcriptional regulator																																				SO:0001589	frameshift_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16262459_16262460insC		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9729dupC	1.37:g.16262464_16262464dupC	ENSP00000364912:p.Ala3242fs					SPEN_uc010obp.1_Frame_Shift_Ins_p.A3201fs	p.A3242fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	9928_9929	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3242			Pro-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Ins	INS	ENST00000375759.3	37	c.9724_9725insC	CCDS164.1																																																																																				0.683	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1		NM_015001		8	59	NaN	NaN	NaN	NaN	NaN	8	59	---	---
INTS7	25896	broad.mit.edu	37	1	212115191	212115193	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:212115191_212115193delTGC	ENST00000366994.3	-	20	2966_2968	c.2862_2864delGCA	c.(2860-2865)cagcaa>caa	p.954_955QQ>Q	INTS7_ENST00000440600.2_In_Frame_Del_p.905_906QQ>Q|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_In_Frame_Del_p.934_935QQ>Q|INTS7_ENST00000366993.3_In_Frame_Del_p.940_941QQ>Q	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	954	Gln-rich.				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)		GGCATTGCGTTGCTGCTGCTGCT	0.443																																						uc001hiw.1		NaN																	0					0						c.(2860-2865)CAGCAA>CAA		integrator complex subunit 7																																				SO:0001651	inframe_deletion	25896				snRNA processing	integrator complex	protein binding	g.chr1:212115191_212115193delTGC	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.2862_2864delGCA	1.37:g.212115200_212115202delTGC	ENSP00000355961:p.Gln955del					INTS7_uc009xdb.1_In_Frame_Del_p.934_935QQ>Q|INTS7_uc001hix.1_In_Frame_Del_p.830_831QQ>Q|INTS7_uc001hiy.1_In_Frame_Del_p.940_941QQ>Q|INTS7_uc010pta.1_In_Frame_Del_p.905_906QQ>Q	p.954_955QQ>Q	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	20	2967_2969	-			954_955			Gln-rich.		B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	In_Frame_Del	DEL	ENST00000366994.3	37	c.2862_2864delGCA	CCDS1501.1																																																																																				0.443	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1		NM_015434		9	353	NaN	NaN	NaN	NaN	NaN	9	353	---	---
CUBN	8029	broad.mit.edu	37	10	17145185	17145185	+	Frame_Shift_Del	DEL	G	G	-	rs370699506		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr10:17145185delG	ENST00000377833.4	-	13	1534	c.1469delC	c.(1468-1470)ccgfs	p.P490fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	490	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCAACATCCGGGCTCCTGTA	0.398																																						uc001ioo.2		NaN																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(1468-1470)CCGfs		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						98.0	95.0	96.0					10																	17145185		2203	4300	6503	SO:0001589	frameshift_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17145185delG	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1469delC	10.37:g.17145185delG	ENSP00000367064:p.Pro490fs						p.P490fs	NM_001081	NP_001072	O60494	CUBN_HUMAN			13	1521	-			490			CUB 1.		B0YIZ4|Q5VTA6|Q96RU9	Frame_Shift_Del	DEL	ENST00000377833.4	37	c.1469delC	CCDS7113.1																																																																																				0.398	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1		NM_001081		45	73	NaN	NaN	NaN	NaN	NaN	45	73	---	---
TMEM126A	84233	broad.mit.edu	37	11	85366703	85366704	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:85366703_85366704insTA	ENST00000304511.2	+	4	455_456	c.346_347insTA	c.(346-348)ctafs	p.L116fs	TMEM126A_ENST00000532180.1_Frame_Shift_Ins_p.L46fs|TMEM126A_ENST00000528105.1_Frame_Shift_Ins_p.L46fs	NM_032273.3	NP_115649.1	Q9H061	T126A_HUMAN	transmembrane protein 126A	116					optic nerve development (GO:0021554)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TATTGGTGGTCTATACCCTGTT	0.366																																						uc001par.2		NaN																	0				ovary(2)	2						c.(346-348)CTAfs		transmembrane protein 126A																																				SO:0001589	frameshift_variant	84233					integral to membrane|mitochondrion		g.chr11:85366703_85366704insTA		CCDS8268.1, CCDS58165.1	11q14.1	2011-03-25			ENSG00000171202	ENSG00000171202			25382	protein-coding gene	gene with protein product		612988				11230166	Standard	NM_032273		Approved	DKFZp586C1924, OPA7	uc001par.3	Q9H061	OTTHUMG00000166975	ENST00000304511.2:c.349_350dupTA	11.37:g.85366706_85366707dupTA	ENSP00000306887:p.Leu116fs						p.L116fs	NM_032273	NP_115649	Q9H061	T126A_HUMAN			4	442_443	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	116			Helical; (Potential).		B2R570|E9PI16	Frame_Shift_Ins	INS	ENST00000304511.2	37	c.346_347insTA	CCDS8268.1																																																																																				0.366	TMEM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392177.1		NM_032273		84	231	NaN	NaN	NaN	NaN	NaN	84	231	---	---
BAZ2A	11176	broad.mit.edu	37	12	56999009	56999010	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:56999009_56999010insCA	ENST00000551812.1	-	14	2794_2795	c.2601_2602insTG	c.(2599-2604)gtgctgfs	p.L868fs	BAZ2A_ENST00000179765.5_Frame_Shift_Ins_p.L836fs|BAZ2A_ENST00000549884.1_Frame_Shift_Ins_p.L866fs|BAZ2A_ENST00000379441.3_Frame_Shift_Ins_p.L838fs	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	868	DDT. {ECO:0000255|PROSITE- ProRule:PRU00063}.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCAAAGCCCAGCACCTTGCCAA	0.574																																						uc001slq.1		NaN																	0					0						c.(2599-2604)GTGCTGfs		bromodomain adjacent to zinc finger domain, 2A																																				SO:0001589	frameshift_variant	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:56999009_56999010insCA	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.2600_2601dupTG	12.37:g.56999010_56999011dupCA	ENSP00000446880:p.Leu868fs					BAZ2A_uc001slp.1_Frame_Shift_Ins_p.V865fs|BAZ2A_uc009zov.1_5'Flank|BAZ2A_uc009zow.1_Frame_Shift_Ins_p.V835fs	p.V867fs	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN			14	2795_2796	-			867_868			DDT.		B3KN66|O00536|O15030|Q68DI8|Q96H26	Frame_Shift_Ins	INS	ENST00000551812.1	37	c.2601_2602insTG	CCDS44924.1																																																																																				0.574	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1		NM_013449		25	33	NaN	NaN	NaN	NaN	NaN	25	33	---	---
UNKL	64718	broad.mit.edu	37	16	1464642	1464643	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:1464642_1464643insG	ENST00000389221.4	-	1	49_50	c.50_51insC	c.(49-51)ccgfs	p.P17fs	UNKL_ENST00000508903.2_Frame_Shift_Ins_p.P17fs|UNKL_ENST00000397462.1_Frame_Shift_Ins_p.P17fs|UNKL_ENST00000503648.1_5'UTR|LA16c-312E8.2_ENST00000568554.1_RNA|UNKL_ENST00000301712.5_Frame_Shift_Ins_p.P17fs	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	17					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				TCTCAGTCTGCGGGGGGGACCC	0.757																																						uc010bro.1		NaN																	0					0						c.(49-51)CCGfs		unkempt homolog (Drosophila)-like isoform 2																																				SO:0001589	frameshift_variant	64718					cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding	g.chr16:1464642_1464643insG	BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"""Zinc fingers, CCCH-type domain containing"""	14184	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 28"", ""unkempt homolog (Drosophila)-like"""	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.51dupC	16.37:g.1464649_1464649dupG	ENSP00000373873:p.Pro17fs					UNKL_uc002clq.2_Frame_Shift_Ins_p.P17fs	p.P17fs	NM_001037125	NP_001032202	Q9H9P5	UNKL_HUMAN			1	58_59	-		Hepatocellular(780;0.0893)	17					B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Frame_Shift_Ins	INS	ENST00000389221.4	37	c.50_51insC	CCDS53981.1																																																																																				0.757	UNKL-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_001037125		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	T	-	rs552164906		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:43213780delT	ENST00000263245.5	-	10	1115	c.896delA	c.(895-897)aatfs	p.N299fs	ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	299					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						TGAGTCAACATTTTTTTTGCC	0.363																																					GBM(58;544 1030 21460 27159 48838)	uc003bdd.2		NaN																	0				breast(1)	1						c.(895-897)AATfs		ADP-ribosylation factor GTPase activating							317.0	285.0	296.0					22																	43213780		2203	4300	6503	SO:0001589	frameshift_variant	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.chr22:43213780delT	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.896delA	22.37:g.43213780delT	ENSP00000263245:p.Asn299fs					ARFGAP3_uc010gzf.2_Frame_Shift_Del_p.N255fs|ARFGAP3_uc011apu.1_Frame_Shift_Del_p.N227fs	p.N299fs	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN			10	1116	-			299					E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Frame_Shift_Del	DEL	ENST00000263245.5	37	c.896delA	CCDS14042.1																																																																																				0.363	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2		NM_014570		7	184	NaN	NaN	NaN	NaN	NaN	7	184	---	---
UCP1	7350	broad.mit.edu	37	4	141489036	141489036	+	Frame_Shift_Del	DEL	G	G	-	rs17848358		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:141489036delG	ENST00000262999.3	-	2	297	c.222delC	c.(220-222)ctcfs	p.L74fs		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	74					brown fat cell differentiation (GO:0050873)|cellular metabolic process (GO:0044237)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					GCCCGCTGTAGAGTTTCATCC	0.567																																						uc011chj.1		NaN																	0				ovary(1)	1						c.(220-222)CTCfs		uncoupling protein 1							75.0	80.0	78.0					4																	141489036		2203	4300	6503	SO:0001589	frameshift_variant	7350				brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding	g.chr4:141489036delG	X51955	CCDS3753.1	4q28-q31	2013-05-22			ENSG00000109424	ENSG00000109424		"""Solute carriers"""	12517	protein-coding gene	gene with protein product		113730		UCP		2380264	Standard	NM_021833		Approved	SLC25A7	uc011chj.2	P25874	OTTHUMG00000133415	ENST00000262999.3:c.222delC	4.37:g.141489036delG	ENSP00000262999:p.Leu74fs					UCP1_uc011chk.1_Frame_Shift_Del_p.L74fs	p.L74fs	NM_021833	NP_068605	P25874	UCP1_HUMAN			2	298	-	all_hematologic(180;0.162)		74			Solcar 1.|Helical; Name=2; (Potential).		Q13218|Q4KMZ3|Q68G66	Frame_Shift_Del	DEL	ENST00000262999.3	37	c.222delC	CCDS3753.1																																																																																				0.567	UCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257273.1				71	90	NaN	NaN	NaN	NaN	NaN	71	90	---	---
CDKN1A	1026	broad.mit.edu	37	6	36652112	36652113	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08			-	C	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:36652112_36652113insC	ENST00000405375.1	+	2	469_470	c.234_235insC	c.(235-237)cccfs	p.P79fs	CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.P79fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.P79fs|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.P113fs	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	79					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						AGCTCTACCTTCCCACGGGGCC	0.663																																						uc003omm.3		NaN																	0				ovary(1)|breast(1)	2						c.(232-237)CTTCCCfs		cyclin-dependent kinase inhibitor 1A																																				SO:0001589	frameshift_variant	1026	Multiple_Endocrine_Neoplasia_type_1			cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	g.chr6:36652112_36652113insC	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.237dupC	6.37:g.36652115_36652115dupC	ENSP00000384849:p.Pro79fs					CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.L112fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.L78fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.L78fs	p.L78fs	NM_000389	NP_000380	P38936	CDN1A_HUMAN			2	356_357	+			78_79					Q14010|Q6FI05|Q9BUT4	Frame_Shift_Ins	INS	ENST00000405375.1	37	c.234_235insC	CCDS4824.1																																																																																				0.663	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1		NM_078467		29	7	NaN	NaN	NaN	NaN	NaN	29	7	---	---
KCNV1	27012	broad.mit.edu	37	8	110984590	110984593	+	Frame_Shift_Del	DEL	ACTT	ACTT	-			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:110984590_110984593delACTT	ENST00000524391.1	-	3	1917_1920	c.885_888delAAGT	c.(883-888)ctaagtfs	p.LS295fs	KCNV1_ENST00000297404.1_Frame_Shift_Del_p.LS295fs|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	295					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TCTGGCTCCCACTTAGGCTCTCTA	0.559																																						uc003ynr.3		NaN																	0				lung(1)|kidney(1)	2						c.(883-888)CTAAGTfs		potassium channel, subfamily V, member 1																																				SO:0001589	frameshift_variant	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110984590_110984593delACTT	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.885_888delAAGT	8.37:g.110984590_110984593delACTT	ENSP00000435954:p.Leu295fs					KCNV1_uc010mcw.2_Frame_Shift_Del_p.L295fs	p.L295fs	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		2	1227_1230	-	all_neural(195;0.219)		295_296			Helical; Name=Segment S3; (Potential).		Q9UHJ4	Frame_Shift_Del	DEL	ENST00000524391.1	37	c.885_888delAAGT	CCDS6314.1																																																																																				0.559	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1		NM_014379		21	62	NaN	NaN	NaN	NaN	NaN	21	62	---	---
RUSC2	9853	broad.mit.edu	37	9	35560363	35560363	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:35560363delG	ENST00000455600.1	+	10	4295	c.3726delG	c.(3724-3726)gagfs	p.E1246fs	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1246	Poly-Glu.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			aagaggaagaggaagaagagg	0.697																																						uc003zww.2		NaN																	0				ovary(1)	1						c.(3724-3726)GAGfs		RUN and SH3 domain containing 2							21.0	26.0	25.0					9																	35560363		2199	4288	6487	SO:0001589	frameshift_variant	9853					cytosol		g.chr9:35560363delG	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.3726delG	9.37:g.35560363delG	ENSP00000393922:p.Glu1246fs					RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Frame_Shift_Del_p.E1242fs	p.E1242fs	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		10	3981	+			1242			Poly-Glu.		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Frame_Shift_Del	DEL	ENST00000455600.1	37	c.3726delG	CCDS35008.1																																																																																				0.697	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1		XM_048462		8	16	NaN	NaN	NaN	NaN	NaN	8	16	---	---
