#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
MMP23B	8510	broad.mit.edu	37	1	1572053	1572053	+	IGR	SNP	C	C	T	rs17424311		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:1572053C>T	ENST00000356026.5	+	0	1326				CDK11B_ENST00000340677.5_Silent_p.K626K|CDK11B_ENST00000407249.3_Silent_p.K639K|CDK11B_ENST00000341832.6_Silent_p.K592K|CDK11B_ENST00000317673.7_Silent_p.K637K			O75900	MMP23_HUMAN	matrix metallopeptidase 23B						proteolysis (GO:0006508)|reproduction (GO:0000003)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			large_intestine(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-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)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Marimastat(DB00786)	CCTTGAACACCTTGTTGATCT	0.607													.|||	1	0.000199681	0.0	0.0	5008	,	,		18002	0.0		0.0	False		,,,				2504	0.001					uc001agv.1		NaN																	0				skin(1)	1						c.(1906-1908)AAG>AAA		cell division cycle 2-like 1 (PITSLRE proteins)							82.0	88.0	86.0					1																	1572053		2101	4225	6326	SO:0001628	intergenic_variant	984				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1572053C>T		CCDS30559.1	1p36.3	2013-01-11	2005-08-08		ENSG00000189409	ENSG00000189409		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7171	protein-coding gene	gene with protein product	"""matrix metalloproteinase 22"", ""femalysin"", ""matrix metalloproteinase in the female reproductive tract"""	603321	"""matrix metalloproteinase 23B"""	MMP22		9740677, 9750192	Standard	XM_005244810		Approved	MIFR, MIFR-1	uc001agp.3	O75900	OTTHUMG00000074713		1.37:g.1572053C>T						CDK11B_uc009vkj.2_Silent_p.K293K|CDK11B_uc001ags.1_Silent_p.K494K|CDK11B_uc001agt.1_Silent_p.K419K|CDK11B_uc001aha.1_Silent_p.K602K|CDK11B_uc001agw.1_Silent_p.K591K|CDK11B_uc001agy.1_Silent_p.K634K|CDK11B_uc001agx.1_Silent_p.K625K|CDK11B_uc001agz.1_Silent_p.K380K	p.K636K	NM_033486	NP_277021	P21127	CD11B_HUMAN			21	2019	-			649			Protein kinase.		A2AGN0|A2AGN1|O75894|O75895|Q5QPQ8|Q76P96|Q7LDM6|Q7LDM7|Q9UBR9|Q9UJK8	Silent	SNP	ENST00000356026.5	37	c.1908G>A	CCDS30559.1																																																																																				0.607	MMP23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158492.2		NM_006983		7	64	0	0	0	0.001984	0	7	64		
TNFRSF9	3604	broad.mit.edu	37	1	7993281	7993281	+	Missense_Mutation	SNP	G	G	A	rs555723076		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:7993281G>A	ENST00000377507.3	-	7	786	c.620C>T	c.(619-621)aCg>aTg	p.T207M		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	207					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GAAACGGAGCGTGAGGAAGAA	0.448													A|||	1	0.000199681	0.0	0.0	5008	,	,		18838	0.0		0.0	False		,,,				2504	0.001					uc001aot.2		NaN																	0				large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.(619-621)ACG>ATG		tumor necrosis factor receptor superfamily,							90.0	77.0	82.0					1																	7993281		2203	4300	6503	SO:0001583	missense	3604				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	g.chr1:7993281G>A	L12964	CCDS92.1	1p36	2008-02-05			ENSG00000049249	ENSG00000049249		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11924	protein-coding gene	gene with protein product		602250		ILA		8262389, 8639902	Standard	NM_001561		Approved	CD137, 4-1BB	uc001aot.3	Q07011	OTTHUMG00000001223	ENST00000377507.3:c.620C>T	1.37:g.7993281G>A	ENSP00000366729:p.Thr207Met						p.T207M	NM_001561	NP_001552	Q07011	TNR9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)	7	748	-	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	207			Helical; (Potential).			Missense_Mutation	SNP	ENST00000377507.3	37	c.620C>T	CCDS92.1	.	.	.	.	.	.	.	.	.	.	A	10.66	1.412475	0.25465	.	.	ENSG00000049249	ENST00000377507	T	0.71222	-0.55	4.57	-1.24	0.09435	.	3.012550	0.00822	N	0.001597	T	0.49372	0.1553	N	0.19112	0.55	0.09310	N	1	P	0.41265	0.744	B	0.29785	0.107	T	0.43114	-0.9411	10	0.33141	T	0.24	0.7145	5.5361	0.17011	0.4501:0.1548:0.3951:0.0	.	207	Q07011	TNR9_HUMAN	M	207	ENSP00000366729:T207M	ENSP00000366729:T207M	T	-	2	0	TNFRSF9	7915868	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.765000	0.04730	-0.622000	0.05626	-0.360000	0.07572	ACG		0.448	TNFRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003622.1				5	40	0	0	0	0.000602	0	5	40		
VPS13D	55187	broad.mit.edu	37	1	12378341	12378341	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:12378341C>T	ENST00000358136.3	+	31	7491	c.7361C>T	c.(7360-7362)tCt>tTt	p.S2454F	VPS13D_ENST00000356315.4_Missense_Mutation_p.S2454F	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACCAAGCGGTCTTCCCTTCCT	0.443																																						uc001atv.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(7360-7362)TCT>TTT		vacuolar protein sorting 13D isoform 1							130.0	127.0	128.0					1																	12378341		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12378341C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.7361C>T	1.37:g.12378341C>T	ENSP00000350854:p.Ser2454Phe					VPS13D_uc001atw.2_Missense_Mutation_p.S2454F|VPS13D_uc001atx.2_Missense_Mutation_p.S1642F|VPS13D_uc001aty.1_Missense_Mutation_p.S192F	p.S2454F	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	31	7502	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2454						Missense_Mutation	SNP	ENST00000358136.3	37	c.7361C>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.7|29.7	5.025906|5.025906	0.93518|0.93518	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.54479	.|0.57;0.57	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.056858	.|0.64402	.|D	.|0.000001	T|T	0.67915|0.67915	0.2944|0.2944	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.71674	.|0.938;0.998;0.997	.|P;D;P	.|0.67725	.|0.694;0.953;0.898	T|T	0.62982|0.62982	-0.6738|-0.6738	5|9	.|.	.|.	.|.	.|.	20.1421|20.1421	0.98061|0.98061	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|361;2454;2454	.|B1AJZ2;Q5THJ4-2;Q5THJ4	.|.;.;VP13D_HUMAN	F|F	1277|2454	.|ENSP00000348666:S2454F;ENSP00000350854:S2454F	.|.	L|S	+|+	1|2	0|0	VPS13D|VPS13D	12300928|12300928	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.414000|7.414000	0.80117|0.80117	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	CTT|TCT		0.443	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		NM_015378		11	93	0	0	0	0.008291	0	11	93		
DNAJC16	23341	broad.mit.edu	37	1	15890478	15890478	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:15890478G>A	ENST00000375847.3	+	10	1557	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K	DNAJC16_ENST00000483270.1_3'UTR|RP4-680D5.8_ENST00000606186.1_RNA|DNAJC16_ENST00000375849.1_Missense_Mutation_p.E465K|DNAJC16_ENST00000375838.1_Missense_Mutation_p.E465K	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	465					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TAAAACCCTGGAAGACCCTTG	0.453																																						uc001aws.2		NaN																	0				urinary_tract(1)|lung(1)|kidney(1)	3						c.(1393-1395)GAA>AAA		DnaJ (Hsp40) homolog, subfamily C, member 16							161.0	172.0	168.0					1																	15890478		2203	4300	6503	SO:0001583	missense	23341				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr1:15890478G>A	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.1393G>A	1.37:g.15890478G>A	ENSP00000365007:p.Glu465Lys					DNAJC16_uc001awr.1_Missense_Mutation_p.E465K|DNAJC16_uc001awt.2_Missense_Mutation_p.E153K|DNAJC16_uc001awu.2_RNA	p.E465K	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	10	1513	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	465			Cytoplasmic (Potential).		Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	37	c.1393G>A	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310415	0.40895	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	T;T;T	0.16597	2.33;2.33;2.33	6.17	6.17	0.99709	.	0.387210	0.31648	N	0.007293	T	0.18635	0.0447	L	0.44542	1.39	0.26038	N	0.981644	B;B	0.20887	0.039;0.049	B;B	0.18561	0.016;0.022	T	0.10706	-1.0618	10	0.23302	T	0.38	-13.7918	19.4432	0.94831	0.0:0.0:1.0:0.0	.	465;465	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	K	465	ENSP00000365007:E465K;ENSP00000364998:E465K;ENSP00000365009:E465K	ENSP00000364998:E465K	E	+	1	0	DNAJC16	15763065	1.000000	0.71417	0.979000	0.43373	0.951000	0.60555	3.919000	0.56439	2.941000	0.99782	0.655000	0.94253	GAA		0.453	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1		NM_015291		24	206	0	0	0	0.00278	0	24	206		
DNAJC16	23341	broad.mit.edu	37	1	15894468	15894468	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:15894468G>C	ENST00000375847.3	+	15	2309	c.2145G>C	c.(2143-2145)aaG>aaC	p.K715N	DNAJC16_ENST00000483270.1_3'UTR|RP4-680D5.8_ENST00000606186.1_RNA|DNAJC16_ENST00000375849.1_Intron	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	715					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGCCCCAAAAGACAGTCGAAG	0.488																																						uc001aws.2		NaN																	0				urinary_tract(1)|lung(1)|kidney(1)	3						c.(2143-2145)AAG>AAC		DnaJ (Hsp40) homolog, subfamily C, member 16							115.0	101.0	105.0					1																	15894468		2203	4300	6503	SO:0001583	missense	23341				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr1:15894468G>C	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.2145G>C	1.37:g.15894468G>C	ENSP00000365007:p.Lys715Asn					DNAJC16_uc001awt.2_Missense_Mutation_p.K403N|DNAJC16_uc001awu.2_RNA	p.K715N	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	15	2265	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	715			Extracellular (Potential).		Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	37	c.2145G>C	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	G	9.966	1.224214	0.22457	.	.	ENSG00000116138	ENST00000375847	T	0.72167	-0.63	5.77	-0.701	0.11269	.	0.148389	0.64402	D	0.000009	T	0.46983	0.1421	N	0.16478	0.41	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.06232	-1.0838	10	0.33141	T	0.24	-24.9921	6.5857	0.22620	0.5147:0.1265:0.3587:0.0	.	715	Q9Y2G8	DJC16_HUMAN	N	715	ENSP00000365007:K715N	ENSP00000365007:K715N	K	+	3	2	DNAJC16	15767055	1.000000	0.71417	0.362000	0.25862	0.771000	0.43674	1.357000	0.34090	-0.378000	0.07918	-0.294000	0.09567	AAG		0.488	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1		NM_015291		12	100	0	0	0	0.010729	0	12	100		
DNAJC16	23341	broad.mit.edu	37	1	15894475	15894475	+	Missense_Mutation	SNP	G	G	A	rs551633353		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:15894475G>A	ENST00000375847.3	+	15	2316	c.2152G>A	c.(2152-2154)Gaa>Aaa	p.E718K	DNAJC16_ENST00000483270.1_3'UTR|RP4-680D5.8_ENST00000606186.1_RNA|DNAJC16_ENST00000375849.1_Intron	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	718	Poly-Glu.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AAAGACAGTCGAAGAGGAGGA	0.498																																						uc001aws.2		NaN																	0				urinary_tract(1)|lung(1)|kidney(1)	3						c.(2152-2154)GAA>AAA		DnaJ (Hsp40) homolog, subfamily C, member 16							115.0	99.0	105.0					1																	15894475		2203	4300	6503	SO:0001583	missense	23341				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr1:15894475G>A	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.2152G>A	1.37:g.15894475G>A	ENSP00000365007:p.Glu718Lys					DNAJC16_uc001awt.2_Missense_Mutation_p.E406K|DNAJC16_uc001awu.2_RNA	p.E718K	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	15	2272	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	718			Poly-Glu.|Extracellular (Potential).		Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	37	c.2152G>A	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793381	0.70452	.	.	ENSG00000116138	ENST00000375847	T	0.70986	-0.53	5.77	5.77	0.91146	.	0.243533	0.47455	D	0.000233	T	0.59059	0.2166	L	0.38838	1.175	0.80722	D	1	P	0.49358	0.923	B	0.31869	0.137	T	0.67280	-0.5710	10	0.62326	D	0.03	-19.04	18.5532	0.91073	0.0:0.0:1.0:0.0	.	718	Q9Y2G8	DJC16_HUMAN	K	718	ENSP00000365007:E718K	ENSP00000365007:E718K	E	+	1	0	DNAJC16	15767062	1.000000	0.71417	0.956000	0.39512	0.737000	0.42083	8.906000	0.92626	2.730000	0.93505	0.655000	0.94253	GAA		0.498	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1		NM_015291		11	96	0	0	0	0.010729	0	11	96		
PUM1	9698	broad.mit.edu	37	1	31439030	31439030	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:31439030G>A	ENST00000257075.5	-	13	1978	c.1885C>T	c.(1885-1887)Cag>Tag	p.Q629*	PUM1_ENST00000373747.3_Nonsense_Mutation_p.Q630*|PUM1_ENST00000490546.1_5'UTR|PUM1_ENST00000373741.4_Nonsense_Mutation_p.Q665*|SNORD85_ENST00000363311.1_RNA|PUM1_ENST00000440538.2_Nonsense_Mutation_p.Q603*|PUM1_ENST00000423018.2_Nonsense_Mutation_p.Q485*|PUM1_ENST00000424085.2_Nonsense_Mutation_p.Q387*|PUM1_ENST00000373742.2_Nonsense_Mutation_p.Q570*|PUM1_ENST00000426105.2_Nonsense_Mutation_p.Q629*	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	629					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ggctggggctgaggctgCTGT	0.537																																						uc001bsi.1		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1885-1887)CAG>TAG		pumilio 1 isoform 2							112.0	109.0	110.0					1																	31439030		2203	4300	6503	SO:0001587	stop_gained	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31439030G>A	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.1885C>T	1.37:g.31439030G>A	ENSP00000257075:p.Gln629*					PUM1_uc001bsf.1_Nonsense_Mutation_p.Q295*|PUM1_uc001bsg.1_Nonsense_Mutation_p.Q442*|PUM1_uc001bsh.1_Nonsense_Mutation_p.Q629*|PUM1_uc001bsj.1_Nonsense_Mutation_p.Q603*|PUM1_uc010oga.1_Nonsense_Mutation_p.Q485*|PUM1_uc001bsk.1_Nonsense_Mutation_p.Q665*|PUM1_uc010ogb.1_Nonsense_Mutation_p.Q570*	p.Q629*	NM_014676	NP_055491	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	13	1998	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	629					A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Nonsense_Mutation	SNP	ENST00000257075.5	37	c.1885C>T	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.884649|6.884649	0.97908|0.97908	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742|ENST00000525843;ENST00000498419	.|.	.|.	.|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.054100|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80341	.|0.4605	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77736	.|-0.2476	.|3	0.49607|.	T|.	0.09|.	-4.9368|-4.9368	20.3931|20.3931	0.98965|0.98965	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	387;629;630;367;629;603;665;485;570|646;340	.|.	ENSP00000257075:Q629X|.	Q|S	-|-	1|2	0|0	PUM1|PUM1	31211617|31211617	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.992000|0.992000	0.81027|0.81027	9.869000|9.869000	0.99810|0.99810	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.537	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1				29	98	0	0	0	0.00632	0	29	98		
MAP7D1	55700	broad.mit.edu	37	1	36640550	36640550	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:36640550C>T	ENST00000373151.2	+	6	1007	c.791C>T	c.(790-792)tCt>tTt	p.S264F	MAP7D1_ENST00000373148.4_5'Flank|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373150.4_Missense_Mutation_p.S264F|MAP7D1_ENST00000316156.4_Intron	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	264					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CACGTGGACTCTATAATCAAC	0.607																																						uc001bzz.2		NaN																	0				ovary(3)|breast(2)	5						c.(790-792)TCT>TTT		MAP7 domain containing 1							70.0	70.0	70.0					1																	36640550		2203	4300	6503	SO:0001583	missense	55700					cytoplasm|spindle		g.chr1:36640550C>T	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.791C>T	1.37:g.36640550C>T	ENSP00000362244:p.Ser264Phe					MAP7D1_uc001caa.2_Missense_Mutation_p.S264F|MAP7D1_uc001cab.2_Intron|MAP7D1_uc001cac.2_5'UTR|MAP7D1_uc001cad.2_5'Flank	p.S264F	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN			6	1007	+		Myeloproliferative disorder(586;0.0393)	264					D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	ENST00000373151.2	37	c.791C>T	CCDS30673.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617100	0.87359	.	.	ENSG00000116871	ENST00000429533;ENST00000373150;ENST00000373151;ENST00000373153	T;T;T	0.04406	3.63;3.63;3.63	5.57	5.57	0.84162	.	0.000000	0.41001	D	0.000965	T	0.22126	0.0533	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.994;0.994	T	0.00054	-1.2181	10	0.87932	D	0	-10.6379	18.162	0.89710	0.0:1.0:0.0:0.0	.	264;264	Q3KQU3-4;Q3KQU3	.;MA7D1_HUMAN	F	225;264;264;8	ENSP00000390091:S225F;ENSP00000362243:S264F;ENSP00000362244:S264F	ENSP00000362243:S264F	S	+	2	0	MAP7D1	36413137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.429000	0.80309	2.649000	0.89929	0.558000	0.71614	TCT		0.607	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1		NM_018067		4	36	0	0	0	0.009096	0	4	36		
THRAP3	9967	broad.mit.edu	37	1	36766675	36766675	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:36766675G>A	ENST00000354618.5	+	10	2716	c.2492G>A	c.(2491-2493)cGa>cAa	p.R831Q	THRAP3_ENST00000469141.2_Missense_Mutation_p.R831Q	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	831	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCAGAGCTCGAGGAACCTTT	0.502			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	uc001cae.3		NaN		Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				ovary(5)|lung(3)|breast(1)	9						c.(2491-2493)CGA>CAA		thyroid hormone receptor associated protein 3							59.0	53.0	55.0					1																	36766675		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36766675G>A	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.2492G>A	1.37:g.36766675G>A	ENSP00000346634:p.Arg831Gln					THRAP3_uc001caf.3_Missense_Mutation_p.R831Q	p.R831Q	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN			10	2716	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	831					D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.2492G>A	CCDS405.1	.	.	.	.	.	.	.	.	.	.	G	36	5.765731	0.96906	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.13901	2.55;2.55	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000011	T	0.34019	0.0883	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	P	0.62649	0.905	T	0.00878	-1.1530	10	0.72032	D	0.01	-1.8177	19.0254	0.92930	0.0:0.0:1.0:0.0	.	831	Q9Y2W1	TR150_HUMAN	Q	831	ENSP00000346634:R831Q;ENSP00000433825:R831Q	ENSP00000346634:R831Q	R	+	2	0	THRAP3	36539262	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.895000	0.87343	2.822000	0.97130	0.650000	0.86243	CGA		0.502	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2		NM_005119		4	41	0	0	0	0.009096	0	4	41		
PPCS	79717	broad.mit.edu	37	1	42922346	42922346	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:42922346T>G	ENST00000372561.3	+	1	117	c.110T>G	c.(109-111)gTg>gGg	p.V37G	PPCS_ENST00000455780.1_Intron|ZMYND12_ENST00000433602.2_5'Flank|PPCS_ENST00000372556.3_Intron|PPCS_ENST00000472013.1_3'UTR|ZMYND12_ENST00000372565.3_5'Flank|PPCS_ENST00000372560.3_Missense_Mutation_p.V37G|PPCS_ENST00000372562.1_Intron	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	37					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	phosphopantothenate--cysteine ligase activity (GO:0004632)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGCCGGCGGGTGGTGTTGGTT	0.711																																						uc001chl.2		NaN																	0					0						c.(109-111)GTG>GGG		phosphopantothenoylcysteine synthetase isoform							17.0	21.0	20.0					1																	42922346		1870	4058	5928	SO:0001583	missense	79717				coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity	g.chr1:42922346T>G	AK021900	CCDS41311.1, CCDS41312.1	1p34.2	2008-02-05			ENSG00000127125	ENSG00000127125	6.3.2.5		25686	protein-coding gene	gene with protein product		609853				11923312	Standard	NM_024664		Approved	FLJ11838	uc001chl.3	Q9HAB8	OTTHUMG00000007332	ENST00000372561.3:c.110T>G	1.37:g.42922346T>G	ENSP00000361642:p.Val37Gly					ZMYND12_uc001chj.2_5'Flank|ZMYND12_uc010ojt.1_5'Flank|PPCS_uc001chk.2_Intron	p.V37G	NM_024664	NP_078940	Q9HAB8	PPCS_HUMAN			1	174	+	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	37					Q3KQT2|Q5VVM0	Missense_Mutation	SNP	ENST00000372561.3	37	c.110T>G	CCDS41311.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.394457	0.83011	.	.	ENSG00000127125	ENST00000372560;ENST00000372561	.	.	.	5.21	4.07	0.47477	DNA/pantothenate metabolism flavoprotein, C-terminal (3);	0.114072	0.64402	D	0.000015	T	0.79191	0.4404	M	0.87381	2.88	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.81261	-0.1013	9	0.87932	D	0	-10.9091	10.4276	0.44387	0.0:0.0:0.1643:0.8357	.	37	Q9HAB8	PPCS_HUMAN	G	37	.	ENSP00000361641:V37G	V	+	2	0	PPCS	42694933	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.576000	0.74023	0.977000	0.38444	0.455000	0.32223	GTG		0.711	PPCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019166.1		NM_024664		10	35	0	0	0	0.011902	0	10	35		
SZT2	23334	broad.mit.edu	37	1	43868912	43868912	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:43868912G>A	ENST00000562955.1	+	2	92	c.92G>A	c.(91-93)cGc>cAc	p.R31H	SZT2_ENST00000310739.4_Missense_Mutation_p.R31H|SZT2_ENST00000372450.4_Missense_Mutation_p.R31H	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	31					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CGAAATGTTCGCCTGGCTTGG	0.493																																						uc009vws.1		NaN																	0					0						c.(91-93)CGC>CAC		Homo sapiens mRNA for KIAA0467 protein, partial cds.							103.0	97.0	99.0					1																	43868912		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43868912G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.92G>A	1.37:g.43868912G>A	ENSP00000457168:p.Arg31His					C1orf84_uc001cjh.2_Missense_Mutation_p.R31H|C1orf84_uc001cji.1_RNA	p.R31H			Q5T011	SZT2_HUMAN			2	176	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	31					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.92G>A	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	35	5.579148	0.96565	.	.	ENSG00000223526	ENST00000372450;ENST00000310739;ENST00000357658	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	T	0.78155	0.4239	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.994;0.996	T	0.78907	-0.2019	8	0.87932	D	0	.	19.8786	0.96886	0.0:0.0:1.0:0.0	.	31;31	Q5T011-4;Q5T011-7	.;.	H	31	.	ENSP00000312234:R31H	R	+	2	0	AL139289.1	43641499	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.995000	0.93534	2.693000	0.91896	0.655000	0.94253	CGC		0.493	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3		NM_015284		6	63	0	0	0	0.001168	0	6	63		
SZT2	23334	broad.mit.edu	37	1	43898837	43898837	+	Missense_Mutation	SNP	G	G	A	rs375009349		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:43898837G>A	ENST00000562955.1	+	39	5609	c.5609G>A	c.(5608-5610)cGt>cAt	p.R1870H	SZT2_ENST00000372442.1_Missense_Mutation_p.R1028H	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1927					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTGCAGGACCGTGTGGAAGTG	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		20809	0.0		0.0	False		,,,				2504	0.001					uc001cjk.1		NaN																	0					0						c.(3082-3084)CGT>CAT		hypothetical protein LOC23334		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	87.0	86.0	87.0		5609	5.8	1.0	1		87	0,8600		0,0,4300	no	missense	SZT2	NM_015284.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1870/3376	43898837	1,13005	2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43898837G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.5609G>A	1.37:g.43898837G>A	ENSP00000457168:p.Arg1870His						p.R1028H	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			25	3545	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	1927					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.3083G>A	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938229	0.73557	2.27E-4	0.0	ENSG00000198198	ENST00000372442	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.66446	0.2790	L	0.27053	0.805	0.37736	D	0.925445	D	0.89917	1.0	D	0.91635	0.999	T	0.64309	-0.6438	9	0.27785	T	0.31	.	19.9837	0.97340	0.0:0.0:1.0:0.0	.	1870	Q5T011-5	.	H	1028	.	ENSP00000361519:R1028H	R	+	2	0	SZT2	43671424	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.844000	0.86867	2.723000	0.93209	0.655000	0.94253	CGT		0.607	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3		NM_015284		13	122	0	0	0	0.001855	0	13	122		
TSPAN1	10103	broad.mit.edu	37	1	46650908	46650908	+	Silent	SNP	T	T	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:46650908T>C	ENST00000372003.1	+	8	1070	c.606T>C	c.(604-606)aaT>aaC	p.N202N	TSPAN1_ENST00000498443.1_3'UTR	NM_005727.3	NP_005718.2	O60635	TSN1_HUMAN	tetraspanin 1	202					cell migration (GO:0016477)|cell proliferation (GO:0008283)|positive regulation of endocytosis (GO:0045807)|protein stabilization (GO:0050821)|thiamine transmembrane transport (GO:0071934)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	thiamine uptake transmembrane transporter activity (GO:0015403)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				GTTGCTTCAATCAGCTTTTGT	0.537																																						uc001cpd.2		NaN																	0				ovary(1)	1						c.(604-606)AAT>AAC		tetraspan 1							212.0	222.0	219.0					1																	46650908		2203	4300	6503	SO:0001819	synonymous_variant	10103					integral to membrane|lysosomal membrane		g.chr1:46650908T>C	BC013404	CCDS530.1	1p33	2013-02-14			ENSG00000117472	ENSG00000117472		"""Tetraspanins"""	20657	protein-coding gene	gene with protein product		613170				9714763, 10719184	Standard	NM_005727		Approved	TSPAN-1, NET-1	uc001cpd.3	O60635	OTTHUMG00000007602	ENST00000372003.1:c.606T>C	1.37:g.46650908T>C						TSPAN1_uc009vyd.1_Silent_p.N202N	p.N202N	NM_005727	NP_005718	O60635	TSN1_HUMAN			8	1070	+	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)	202			Extracellular (Potential).		D3DQ14|O60745|Q5VST0	Silent	SNP	ENST00000372003.1	37	c.606T>C	CCDS530.1																																																																																				0.537	TSPAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020135.1		NM_005727		19	300	0	0	0	0.008871	0	19	300		
CYP4A11	1579	broad.mit.edu	37	1	47395912	47395912	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:47395912C>G	ENST00000310638.4	-	12	1466	c.1435G>C	c.(1435-1437)Gag>Cag	p.E479Q	CYP4A11_ENST00000462347.1_Missense_Mutation_p.E381Q|CYP4A11_ENST00000371904.4_Missense_Mutation_p.E480Q	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	479					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	GGCAGCAGCTCAAAGCGGAGC	0.547																																						uc001cqp.3		NaN																	0				ovary(2)|skin(2)	4						c.(1435-1437)GAG>CAG		cytochrome P450, family 4, subfamily A,	NADH(DB00157)						130.0	117.0	121.0					1																	47395912		2203	4300	6503	SO:0001583	missense	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47395912C>G	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1435G>C	1.37:g.47395912C>G	ENSP00000311095:p.Glu479Gln						p.E479Q	NM_000778	NP_000769	Q02928	CP4AB_HUMAN			12	1486	-			479					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	c.1435G>C	CCDS543.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.051194	0.55218	.	.	ENSG00000187048	ENST00000310638;ENST00000371904	T;T	0.70282	-0.47;-0.47	4.41	3.41	0.39046	.	0.367407	0.31358	N	0.007792	T	0.75510	0.3859	L	0.49699	1.58	0.80722	D	1	P	0.52061	0.95	P	0.57283	0.817	T	0.77159	-0.2690	10	0.49607	T	0.09	.	14.0024	0.64442	0.0:0.8474:0.1526:0.0	.	479	Q02928	CP4AB_HUMAN	Q	479;480	ENSP00000311095:E479Q;ENSP00000360971:E480Q	ENSP00000311095:E479Q	E	-	1	0	CYP4A11	47168499	0.702000	0.27816	0.998000	0.56505	0.651000	0.38670	0.487000	0.22356	2.181000	0.69327	0.550000	0.68814	GAG		0.547	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1		NM_000778		11	151	0	0	0	0.010729	0	11	151		
C8A	731	broad.mit.edu	37	1	57347200	57347200	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:57347200G>C	ENST00000361249.3	+	5	643	c.547G>C	c.(547-549)Ggg>Cgg	p.G183R		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	183	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|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)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GGTATACAATGGGGAATGGAG	0.463																																						uc001cyo.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(547-549)GGG>CGG		complement component 8, alpha polypeptide							173.0	176.0	175.0					1																	57347200		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57347200G>C	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.547G>C	1.37:g.57347200G>C	ENSP00000354458:p.Gly183Arg						p.G183R	NM_000562	NP_000553	P07357	CO8A_HUMAN			5	679	+			183			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.547G>C	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676732	0.88445	.	.	ENSG00000157131	ENST00000361249	T	0.78595	-1.19	5.56	5.56	0.83823	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	D	0.89955	0.6865	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.91086	0.4903	10	0.72032	D	0.01	-24.6732	19.5169	0.95169	0.0:0.0:1.0:0.0	.	183	P07357	CO8A_HUMAN	R	183	ENSP00000354458:G183R	ENSP00000354458:G183R	G	+	1	0	C8A	57119788	1.000000	0.71417	0.955000	0.39395	0.755000	0.42902	6.307000	0.72815	2.615000	0.88500	0.655000	0.94253	GGG		0.463	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1		NM_000562		8	133	0	0	0	0.008291	0	8	133		
TXNIP	10628	broad.mit.edu	37	1	145440476	145440476	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:145440476G>C	ENST00000369317.4	+	5	1116	c.782G>C	c.(781-783)aGg>aCg	p.R261T	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	261					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAGAAGATCAGGCCTTCTATC	0.488																																						uc001enn.3		NaN																	0				ovary(2)	2						c.(781-783)AGG>ACG		thioredoxin interacting protein							121.0	119.0	120.0					1																	145440476		2203	4300	6503	SO:0001583	missense	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145440476G>C	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.782G>C	1.37:g.145440476G>C	ENSP00000358323:p.Arg261Thr					NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Missense_Mutation_p.R206T	p.R261T	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN			5	1123	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		261					B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	c.782G>C	CCDS913.1	.	.	.	.	.	.	.	.	.	.	G	6.496	0.459739	0.12342	.	.	ENSG00000117289	ENST00000369317;ENST00000425134	T;T	0.14391	2.51;2.51	5.55	4.54	0.55810	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.048580	0.85682	D	0.000000	T	0.02533	0.0077	N	0.11427	0.14	0.45822	D	0.998696	B;B	0.19073	0.001;0.033	B;B	0.21708	0.004;0.036	T	0.36163	-0.9759	10	0.33141	T	0.24	-5.7197	5.1209	0.14860	0.2409:0.0:0.7591:0.0	.	206;261	B4E3D3;Q9H3M7	.;TXNIP_HUMAN	T	261;206	ENSP00000358323:R261T;ENSP00000396322:R206T	ENSP00000358323:R261T	R	+	2	0	TXNIP	144151833	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.845000	0.62853	2.637000	0.89404	0.651000	0.88453	AGG		0.488	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1		NM_006472		25	186	0	0	0	0.005443	0	25	186		
TXNIP	10628	broad.mit.edu	37	1	145440481	145440481	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:145440481T>C	ENST00000369317.4	+	5	1121	c.787T>C	c.(787-789)Tct>Cct	p.S263P	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	263					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GATCAGGCCTTCTATCCTGGG	0.493																																						uc001enn.3		NaN																	0				ovary(2)	2						c.(787-789)TCT>CCT		thioredoxin interacting protein							120.0	119.0	119.0					1																	145440481		2203	4300	6503	SO:0001583	missense	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145440481T>C	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.787T>C	1.37:g.145440481T>C	ENSP00000358323:p.Ser263Pro					NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Missense_Mutation_p.S208P	p.S263P	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN			5	1128	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		263					B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	c.787T>C	CCDS913.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.981121	0.74474	.	.	ENSG00000117289	ENST00000369317;ENST00000425134	T;T	0.21543	2.0;2.0	5.55	5.55	0.83447	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.33206	0.0855	L	0.60067	1.865	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.966	T	0.11591	-1.0581	10	0.87932	D	0	-15.3834	13.6589	0.62354	0.0:0.0:0.0:1.0	.	208;263	B4E3D3;Q9H3M7	.;TXNIP_HUMAN	P	263;208	ENSP00000358323:S263P;ENSP00000396322:S208P	ENSP00000358323:S263P	S	+	1	0	TXNIP	144151838	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.621000	0.67743	2.131000	0.65755	0.529000	0.55759	TCT		0.493	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1		NM_006472		25	185	0	0	0	0.00632	0	25	185		
TCHH	7062	broad.mit.edu	37	1	152080154	152080154	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:152080154C>T	ENST00000368804.1	-	2	5538	c.5539G>A	c.(5539-5541)Gcg>Acg	p.A1847T		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1847	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTCCTCCGCCCGGTACTGC	0.572																																						uc001ezp.2		NaN																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(5539-5541)GCG>ACG		trichohyalin							73.0	75.0	74.0					1																	152080154		2064	4200	6264	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080154C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5539G>A	1.37:g.152080154C>T	ENSP00000357794:p.Ala1847Thr					TCHH_uc009wne.1_Missense_Mutation_p.A1847T	p.A1847T	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5539	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1847			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.5539G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531745	0.27387	.	.	ENSG00000159450	ENST00000368804	T	0.06068	3.35	4.39	1.15	0.20763	.	.	.	.	.	T	0.02156	0.0067	M	0.61703	1.905	0.09310	N	1	P	0.47409	0.895	B	0.41236	0.351	T	0.43988	-0.9357	9	0.19147	T	0.46	-7.5158	5.6278	0.17492	0.5113:0.3925:0.0:0.0962	.	1847	Q07283	TRHY_HUMAN	T	1847	ENSP00000357794:A1847T	ENSP00000357794:A1847T	A	-	1	0	TCHH	150346778	0.000000	0.05858	0.001000	0.08648	0.656000	0.38851	0.136000	0.15974	-0.069000	0.12931	0.313000	0.20887	GCG		0.572	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2		NM_007113		8	103	0	0	0	0.006214	0	8	103		
TCHH	7062	broad.mit.edu	37	1	152080660	152080660	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:152080660T>G	ENST00000368804.1	-	2	5032	c.5033A>C	c.(5032-5034)gAa>gCa	p.E1678A		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1678	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCCCCTTCCTGGAGCAG	0.597																																						uc001ezp.2		NaN																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(5032-5034)GAA>GCA		trichohyalin							87.0	87.0	87.0					1																	152080660		1908	4126	6034	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080660T>G	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5033A>C	1.37:g.152080660T>G	ENSP00000357794:p.Glu1678Ala					TCHH_uc009wne.1_Missense_Mutation_p.E1678A	p.E1678A	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5033	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1678			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.5033A>C	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	T	7.827	0.719108	0.15372	.	.	ENSG00000159450	ENST00000368804	T	0.05649	3.41	3.92	0.0697	0.14375	.	.	.	.	.	T	0.01627	0.0052	L	0.60845	1.875	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.48479	-0.9032	9	0.13470	T	0.59	.	4.5163	0.11937	0.0:0.1946:0.1662:0.6392	.	1678	Q07283	TRHY_HUMAN	A	1678	ENSP00000357794:E1678A	ENSP00000357794:E1678A	E	-	2	0	TCHH	150347284	0.005000	0.15991	0.001000	0.08648	0.014000	0.08584	0.766000	0.26560	-0.174000	0.10743	-0.724000	0.03597	GAA		0.597	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2		NM_007113		17	170	0	0	0	0.006122	0	17	170		
TCHH	7062	broad.mit.edu	37	1	152084447	152084447	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:152084447C>T	ENST00000368804.1	-	2	1245	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	416	8 X 6 AA tandem repeats of R-R-E-Q-Q-L.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			Agctgctgctcgcgcctcagc	0.711																																						uc001ezp.2		NaN																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(1246-1248)GAG>AAG		trichohyalin							5.0	6.0	6.0					1																	152084447		1751	3874	5625	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152084447C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1246G>A	1.37:g.152084447C>T	ENSP00000357794:p.Glu416Lys					TCHH_uc009wne.1_Missense_Mutation_p.E416K	p.E416K	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1246	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		416			8 X 6 AA tandem repeats of R-R-E-Q-Q-L.|2-7.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.1246G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	8.611	0.889058	0.17540	.	.	ENSG00000159450	ENST00000368804	T	0.06768	3.26	3.23	-1.72	0.08107	.	.	.	.	.	T	0.00875	0.0029	N	0.08118	0	0.09310	N	1	B	0.25955	0.138	B	0.12156	0.007	T	0.47142	-0.9140	9	0.11182	T	0.66	.	7.8307	0.29340	0.0:0.4397:0.4595:0.1008	.	416	Q07283	TRHY_HUMAN	K	416	ENSP00000357794:E416K	ENSP00000357794:E416K	E	-	1	0	TCHH	150351071	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.962000	0.03841	-0.159000	0.11021	-1.978000	0.00458	GAG		0.711	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2		NM_007113		5	30	0	0	0	0.000602	0	5	30		
FLG2	388698	broad.mit.edu	37	1	152325730	152325730	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:152325730G>C	ENST00000388718.5	-	3	4604	c.4532C>G	c.(4531-4533)tCa>tGa	p.S1511*	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1511					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGAGCCCCCTGAGTGCACTTC	0.493																																						uc001ezw.3		NaN																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(4531-4533)TCA>TGA		filaggrin family member 2							328.0	317.0	321.0					1																	152325730		2203	4300	6503	SO:0001587	stop_gained	388698						calcium ion binding|structural molecule activity	g.chr1:152325730G>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4532C>G	1.37:g.152325730G>C	ENSP00000373370:p.Ser1511*					uc001ezv.2_Intron	p.S1511*	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4605	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1511					Q9H4U1	Nonsense_Mutation	SNP	ENST00000388718.5	37	c.4532C>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	g	41	8.714467	0.98925	.	.	ENSG00000143520	ENST00000388718	.	.	.	4.54	3.55	0.40652	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-1.3711	9.4446	0.38690	0.0:0.0:0.7884:0.2116	.	.	.	.	X	1511	.	ENSP00000373370:S1511X	S	-	2	0	FLG2	150592354	0.000000	0.05858	0.010000	0.14722	0.018000	0.09664	0.281000	0.18810	2.285000	0.76669	0.449000	0.29647	TCA		0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5		NM_001014342		88	364	0	0	0	0.01441	0	88	364		
OR10J1	26476	broad.mit.edu	37	1	159409753	159409753	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:159409753C>A	ENST00000423932.3	+	1	242	c.205C>A	c.(205-207)Ccc>Acc	p.P69T	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	69					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)					TCTTCACACACCCATGTACTT	0.458																																						uc010piv.1		NaN																	0				ovary(1)	1						c.(205-207)CCC>ACC		olfactory receptor, family 10, subfamily J,							171.0	155.0	160.0					1																	159409753		2203	4300	6503	SO:0001583	missense	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159409753C>A	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.205C>A	1.37:g.159409753C>A	ENSP00000399078:p.Pro69Thr					uc001fts.3_Intron	p.P69T	NM_012351	NP_036483	P30954	O10J1_HUMAN			1	205	+	all_hematologic(112;0.0429)		69			Helical; Name=2; (Potential).		Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	c.205C>A	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035647	0.35893	.	.	ENSG00000196184	ENST00000423932	T	0.02032	4.49	4.48	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	D	0.000945	T	0.12646	0.0307	H	0.97214	3.96	0.43476	D	0.995691	D	0.89917	1.0	D	0.83275	0.996	T	0.02797	-1.1109	10	0.87932	D	0	.	10.4932	0.44762	0.0:0.9044:0.0:0.0956	.	69	P30954	O10J1_HUMAN	T	69	ENSP00000399078:P69T	ENSP00000399078:P69T	P	+	1	0	OR10J1	157676377	1.000000	0.71417	0.840000	0.33206	0.069000	0.16628	5.712000	0.68407	1.216000	0.43427	-0.136000	0.14681	CCC		0.458	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1		NM_012351		9	160	1	0	1.12685e-05	0.004482	1.18264e-05	9	160		
FCGR2B	2213	broad.mit.edu	37	1	161641372	161641372	+	Silent	SNP	C	C	T	rs528404100		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:161641372C>T	ENST00000358671.5	+	3	405	c.324C>T	c.(322-324)agC>agT	p.S108S	FCGR2B_ENST00000236937.9_Silent_p.S108S|FCGR2B_ENST00000367962.4_Silent_p.S108S|FCGR2B_ENST00000403078.3_Silent_p.S108S|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000367960.5_Silent_p.S101S|FCGR2B_ENST00000367961.4_Silent_p.S101S|FCGR2B_ENST00000428605.2_Silent_p.S108S	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	108	Ig-like C2-type 1.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)						all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACAATGACAGCGGGGAGTACA	0.592			T	?	ALL								C|||	1	0.000199681	0.0008	0.0	5008	,	,		22491	0.0		0.0	False		,,,				2504	0.0					uc001gaz.1		NaN		Dom	yes		1	1q23	2213	T	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""			L	NaN		ALL		0					0						c.(322-324)AGC>AGT		Fc fragment of IgG, low affinity IIb, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						37.0	40.0	39.0					1																	161641372		2202	4278	6480	SO:0001819	synonymous_variant	2213				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161641372C>T	BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3618	protein-coding gene	gene with protein product		604590	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.324C>T	1.37:g.161641372C>T						FCGR2B_uc009wum.1_Silent_p.S108S|FCGR2B_uc001gay.1_Silent_p.S107S|FCGR2B_uc001gba.1_Silent_p.S107S|FCGR2B_uc001gbb.1_Silent_p.S108S|FCGR2B_uc009wun.1_Silent_p.S101S	p.S108S	NM_004001	NP_003992	P31994	FCG2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	416	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		108			Ig-like C2-type 1.|Extracellular (Potential).		A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Silent	SNP	ENST00000358671.5	37	c.324C>T	CCDS30924.1																																																																																				0.592	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083337.4		NM_004001		10	155	0	0	0	0.010729	0	10	155		
TOR1AIP1	26092	broad.mit.edu	37	1	179852011	179852011	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:179852011G>A	ENST00000606911.2	+	1	565	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	RP11-533E19.7_ENST00000610272.1_lincRNA|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.R125Q|TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.R4Q|TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.R125Q			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	125					positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						ATGAAGACGCGAAGGACTACC	0.587																																						uc001gnq.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(373-375)CGA>CAA		lamina-associated polypeptide 1B							41.0	48.0	46.0					1																	179852011		2203	4300	6503	SO:0001583	missense	26092					integral to membrane|nuclear inner membrane		g.chr1:179852011G>A		CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"""lamina associated polypeptide 1B"""	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.374G>A	1.37:g.179852011G>A	ENSP00000476687:p.Arg125Gln					TOR1AIP1_uc001gnp.1_Missense_Mutation_p.R125Q	p.R125Q	NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN			1	592	+			125			Nuclear (Potential).		A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Missense_Mutation	SNP	ENST00000606911.2	37	c.374G>A	CCDS1335.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591920	0.46214	.	.	ENSG00000143337	ENST00000528443;ENST00000325993;ENST00000271583;ENST00000435319	T;T;T	0.25912	1.77;1.77;1.77	4.12	4.12	0.48240	.	0.000000	0.37304	N	0.002149	T	0.47002	0.1422	M	0.66939	2.045	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.26883	-1.0090	10	0.72032	D	0.01	-12.9055	12.0735	0.53630	0.0:0.0:1.0:0.0	.	125;125	Q5JTV8;E9PKD1	TOIP1_HUMAN;.	Q	125	ENSP00000435365:R125Q;ENSP00000271583:R125Q;ENSP00000393292:R125Q	ENSP00000271583:R125Q	R	+	2	0	TOR1AIP1	178118634	0.993000	0.37304	0.062000	0.19696	0.016000	0.09150	3.664000	0.54525	2.307000	0.77673	0.563000	0.77884	CGA		0.587	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4		NM_015602		9	90	0	0	0	0.006214	0	9	90		
KIF21B	23046	broad.mit.edu	37	1	200946381	200946381	+	Silent	SNP	G	G	A	rs377370935	byFrequency	TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:200946381G>A	ENST00000422435.2	-	31	4600	c.4284C>T	c.(4282-4284)taC>taT	p.Y1428Y	KIF21B_ENST00000332129.2_Silent_p.Y1415Y|KIF21B_ENST00000461742.2_Silent_p.Y1428Y|KIF21B_ENST00000360529.5_Silent_p.Y1415Y	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1428					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCGAGGCGGCGTACAGCATGG	0.642													g|||	2	0.000399361	0.0	0.0	5008	,	,		19921	0.0		0.0	False		,,,				2504	0.002					uc001gvs.1		NaN																	0				ovary(3)|skin(3)	6						c.(4282-4284)TAC>TAT		kinesin family member 21B							138.0	125.0	129.0					1																	200946381		2203	4300	6503	SO:0001819	synonymous_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200946381G>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.4284C>T	1.37:g.200946381G>A						KIF21B_uc001gvr.1_Silent_p.Y1415Y|KIF21B_uc009wzl.1_Silent_p.Y1428Y|KIF21B_uc010ppn.1_Silent_p.Y1415Y	p.Y1428Y	NM_017596	NP_060066	O75037	KI21B_HUMAN			31	4601	-			1428			WD 3.		B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	c.4284C>T	CCDS58056.1																																																																																				0.642	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1		XM_371332		4	150	0	0	0	0.009096	0	4	150		
ATP2B4	493	broad.mit.edu	37	1	203681223	203681223	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:203681223G>C	ENST00000357681.5	+	13	3290	c.2167G>C	c.(2167-2169)Gaa>Caa	p.E723Q	ATP2B4_ENST00000341360.2_Missense_Mutation_p.E723Q|ATP2B4_ENST00000391954.2_Missense_Mutation_p.E723Q|ATP2B4_ENST00000367219.3_Missense_Mutation_p.E711Q|ATP2B4_ENST00000367218.3_Missense_Mutation_p.E723Q	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	723					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)			CCTGTGCTTAGAAGGCAAAGA	0.542																																						uc001gzw.2		NaN																	0				ovary(2)|skin(1)	3						c.(2167-2169)GAA>CAA		plasma membrane calcium ATPase 4 isoform 4b							103.0	97.0	99.0					1																	203681223		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203681223G>C	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.2167G>C	1.37:g.203681223G>C	ENSP00000350310:p.Glu723Gln					ATP2B4_uc001gzv.2_Missense_Mutation_p.E723Q|ATP2B4_uc009xaq.2_Missense_Mutation_p.E723Q	p.E723Q	NM_001684	NP_001675	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		13	3051	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		723			Cytoplasmic (Potential).		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.2167G>C	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923179	0.92319	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38;-4.38	5.58	4.63	0.57726	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.116150	0.39020	N	0.001491	D	0.98554	0.9517	M	0.89478	3.035	0.80722	D	1	P;D;D	0.76494	0.815;0.999;0.997	P;D;D	0.80764	0.508;0.96;0.994	D	0.99278	1.0895	10	0.87932	D	0	-26.5987	16.1356	0.81487	0.0:0.1335:0.8665:0.0	.	723;723;723	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	Q	723;723;711;723;723	ENSP00000350310:E723Q;ENSP00000356187:E723Q;ENSP00000356188:E711Q;ENSP00000375816:E723Q;ENSP00000340930:E723Q	ENSP00000340930:E723Q	E	+	1	0	ATP2B4	201947846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.873000	0.87193	2.615000	0.88500	0.650000	0.86243	GAA		0.542	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1		NM_001001396		9	81	0	0	0	0.006214	0	9	81		
RPS6KC1	26750	broad.mit.edu	37	1	213415603	213415603	+	Silent	SNP	C	C	T	rs367715701		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:213415603C>T	ENST00000366960.3	+	11	2934	c.2784C>T	c.(2782-2784)cgC>cgT	p.R928R	RPS6KC1_ENST00000366959.3_Silent_p.R916R|RPS6KC1_ENST00000543354.1_Silent_p.R631R|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Silent_p.R716R	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	928	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TTGTGTGCCGCGATTTGAACC	0.433																																						uc010ptr.1		NaN																	0				lung(4)|ovary(3)|breast(1)	8						c.(2782-2784)CGC>CGT		ribosomal protein S6 kinase, 52kDa, polypeptide		C	,	0,4388		0,0,2194	88.0	92.0	90.0		2748,2784	1.3	1.0	1		90	2,8588		0,2,4293	no	coding-synonymous,coding-synonymous	RPS6KC1	NM_001136138.1,NM_012424.3	,	0,2,6487	TT,TC,CC		0.0233,0.0,0.0154	,	916/1055,928/1067	213415603	2,12976	2194	4295	6489	SO:0001819	synonymous_variant	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213415603C>T	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.2784C>T	1.37:g.213415603C>T						RPS6KC1_uc001hkd.2_Silent_p.R916R|RPS6KC1_uc010pts.1_Silent_p.R716R|RPS6KC1_uc010ptt.1_Silent_p.R716R|RPS6KC1_uc010ptu.1_Silent_p.R747R|RPS6KC1_uc010ptv.1_Silent_p.R463R|RPS6KC1_uc001hke.2_Silent_p.R747R	p.R928R	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	2943	+			928			Protein kinase 2.		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Silent	SNP	ENST00000366960.3	37	c.2784C>T	CCDS1513.1																																																																																				0.433	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3		NM_012424		9	102	0	0	0	0.006214	0	9	102		
LYST	1130	broad.mit.edu	37	1	235826288	235826288	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:235826288C>T	ENST00000389794.3	-	53	11532	c.11358G>A	c.(11356-11358)ttG>ttA	p.L3786L	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Silent_p.L3786L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3786					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTGGCTGTTTCAAGCGCTGCT	0.458																																						uc001hxj.2		NaN																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(11356-11358)TTG>TTA		lysosomal trafficking regulator							120.0	122.0	121.0					1																	235826288		2203	4300	6503	SO:0001819	synonymous_variant	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235826288C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.11358G>A	1.37:g.235826288C>T						LYST_uc001hxi.2_Silent_p.L1010L	p.L3786L	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		53	11533	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3786			WD 7.		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.11358G>A	CCDS31062.1																																																																																				0.458	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5				9	118	0	0	0	0.004482	0	9	118		
LYST	1130	broad.mit.edu	37	1	235972124	235972124	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:235972124G>A	ENST00000389794.3	-	5	2168	c.1994C>T	c.(1993-1995)tCa>tTa	p.S665L	LYST_ENST00000389793.2_Missense_Mutation_p.S665L|LYST_ENST00000536965.1_Missense_Mutation_p.S665L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	665					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGATAAACTTGAGGAGAGTTC	0.408																																						uc001hxj.2		NaN																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(1993-1995)TCA>TTA		lysosomal trafficking regulator							105.0	109.0	107.0					1																	235972124		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235972124G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.1994C>T	1.37:g.235972124G>A	ENSP00000374444:p.Ser665Leu					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.S665L	p.S665L	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	2169	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	665			WD 1.		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.1994C>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.552242	0.27739	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.61392	0.11;0.11;1.26	5.4	4.48	0.54585	.	0.362812	0.28659	N	0.014565	T	0.50752	0.1634	L	0.43152	1.355	0.09310	N	0.999998	B;B	0.31548	0.328;0.113	B;B	0.30495	0.116;0.05	T	0.41734	-0.9492	10	0.35671	T	0.21	.	16.0878	0.81070	0.0:0.1344:0.8656:0.0	.	665;665	Q99698-3;Q99698	.;LYST_HUMAN	L	665	ENSP00000374444:S665L;ENSP00000374443:S665L;ENSP00000438315:S665L	ENSP00000374443:S665L	S	-	2	0	LYST	234038747	0.647000	0.27304	0.006000	0.13384	0.241000	0.25554	3.658000	0.54482	1.244000	0.43870	0.655000	0.94253	TCA		0.408	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5				5	70	0	0	0	0.000602	0	5	70		
OR2T12	127064	broad.mit.edu	37	1	248458397	248458397	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:248458397G>T	ENST00000317996.1	-	1	483	c.484C>A	c.(484-486)Ctg>Atg	p.L162M		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GGGAAGCTCAGGGTAGCAACA	0.577																																						uc010pzj.1		NaN																	0				skin(2)|ovary(1)	3						c.(484-486)CTG>ATG		olfactory receptor, family 2, subfamily T,							82.0	83.0	83.0					1																	248458397		2197	4298	6495	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458397G>T	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.484C>A	1.37:g.248458397G>T	ENSP00000324583:p.Leu162Met						p.L162M	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	484	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		162			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000317996.1	37	c.484C>A	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	g	3.204	-0.163088	0.06502	.	.	ENSG00000177201	ENST00000317996	T	0.00220	8.52	1.55	0.227	0.15359	GPCR, rhodopsin-like superfamily (1);	0.000000	0.28653	U	0.014599	T	0.00144	0.0004	L	0.35487	1.065	0.09310	N	1	D	0.59767	0.986	P	0.59357	0.856	T	0.43972	-0.9358	10	0.05351	T	0.99	.	0.3096	0.00286	0.1946:0.1948:0.239:0.3716	.	162	Q8NG77	O2T12_HUMAN	M	162	ENSP00000324583:L162M	ENSP00000324583:L162M	L	-	1	2	OR2T12	246525020	0.000000	0.05858	0.013000	0.15412	0.064000	0.16182	-1.610000	0.02064	0.645000	0.30675	0.175000	0.17021	CTG		0.577	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1		NM_001004692		8	193	1	0	0.00307968	0.00308	0.00312888	8	193		
ITIH2	3698	broad.mit.edu	37	10	7768927	7768927	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr10:7768927G>A	ENST00000358415.4	+	10	1165	c.999G>A	c.(997-999)atG>atA	p.M333I	ITIH2_ENST00000379587.4_Missense_Mutation_p.M322I	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	333	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TGGAAGCAATGAAGACCATAT	0.393																																						uc001ijs.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(997-999)ATG>ATA		inter-alpha globulin inhibitor H2 polypeptide							108.0	102.0	104.0					10																	7768927		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7768927G>A	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.999G>A	10.37:g.7768927G>A	ENSP00000351190:p.Met333Ile						p.M333I	NM_002216	NP_002207	P19823	ITIH2_HUMAN			10	1161	+			333			VWFA.		Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.999G>A	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479375	0.84747	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.80566	-1.39;-1.39	5.09	5.09	0.68999	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.88702	0.6508	M	0.62088	1.915	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.89717	0.3916	10	0.72032	D	0.01	-40.9768	18.4963	0.90866	0.0:0.0:1.0:0.0	.	333	P19823	ITIH2_HUMAN	I	333;322	ENSP00000351190:M333I;ENSP00000368906:M322I	ENSP00000351190:M333I	M	+	3	0	ITIH2	7808933	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.346000	0.97056	2.371000	0.80710	0.551000	0.68910	ATG		0.393	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2		NM_002216		5	70	0	0	0	0.000602	0	5	70		
FRMD4A	55691	broad.mit.edu	37	10	13712435	13712435	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr10:13712435C>T	ENST00000357447.2	-	17	1713	c.1345G>A	c.(1345-1347)Gat>Aat	p.D449N	FRMD4A_ENST00000358621.4_Missense_Mutation_p.D434N|FRMD4A_ENST00000378503.1_Missense_Mutation_p.D449N	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	449					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TTCTGTTCATCCAGTTTGAAG	0.498																																						uc001ims.2		NaN																	0				ovary(1)|skin(1)|pancreas(1)	3						c.(1345-1347)GAT>AAT		FERM domain containing 4A							181.0	169.0	173.0					10																	13712435		2203	4300	6503	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13712435C>T	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1345G>A	10.37:g.13712435C>T	ENSP00000350032:p.Asp449Asn					FRMD4A_uc009xjf.1_Missense_Mutation_p.D449N|FRMD4A_uc001imt.1_Missense_Mutation_p.D482N	p.D449N	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN			17	1697	-			449					A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.1345G>A	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	C	35	5.450957	0.96205	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546	D;D;D;D	0.84944	-1.92;-1.91;-1.91;-1.75	5.18	5.18	0.71444	.	0.091750	0.64402	D	0.000001	D	0.90974	0.7162	L	0.57536	1.79	0.80722	D	1	D;D	0.65815	0.995;0.992	D;D	0.72625	0.978;0.938	D	0.90607	0.4549	10	0.51188	T	0.08	-20.5899	18.8905	0.92399	0.0:1.0:0.0:0.0	.	482;449	Q5T376;Q9P2Q2	.;FRM4A_HUMAN	N	434;449;449;482	ENSP00000351438:D434N;ENSP00000350032:D449N;ENSP00000367764:D449N;ENSP00000264546:D482N	ENSP00000264546:D482N	D	-	1	0	FRMD4A	13752441	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.615000	0.83006	2.707000	0.92482	0.655000	0.94253	GAT		0.498	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1		NM_018027		15	95	0	0	0	0.00245	0	15	95		
FRMD4A	55691	broad.mit.edu	37	10	13712504	13712504	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr10:13712504C>T	ENST00000357447.2	-	17	1644	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	FRMD4A_ENST00000358621.4_Missense_Mutation_p.E411K|FRMD4A_ENST00000378503.1_Missense_Mutation_p.E426K	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	426					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						AGGGGATATTCTACTGGCAGC	0.512																																						uc001ims.2		NaN																	0				ovary(1)|skin(1)|pancreas(1)	3						c.(1276-1278)GAA>AAA		FERM domain containing 4A							142.0	137.0	139.0					10																	13712504		2203	4300	6503	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13712504C>T	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1276G>A	10.37:g.13712504C>T	ENSP00000350032:p.Glu426Lys					FRMD4A_uc009xjf.1_Missense_Mutation_p.E426K|FRMD4A_uc001imt.1_Missense_Mutation_p.E459K	p.E426K	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN			17	1628	-			426					A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.1276G>A	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812123	0.90707	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546	D;D;D;D	0.87650	-2.12;-2.12;-2.12;-2.28	5.35	5.35	0.76521	.	0.090230	0.85682	D	0.000000	D	0.92743	0.7693	M	0.65677	2.01	0.80722	D	1	D;D	0.63046	0.99;0.992	D;D	0.68621	0.959;0.947	D	0.92908	0.6345	10	0.72032	D	0.01	-19.3086	19.2576	0.93952	0.0:1.0:0.0:0.0	.	459;426	Q5T376;Q9P2Q2	.;FRM4A_HUMAN	K	411;426;426;459	ENSP00000351438:E411K;ENSP00000350032:E426K;ENSP00000367764:E426K;ENSP00000264546:E459K	ENSP00000264546:E459K	E	-	1	0	FRMD4A	13752510	1.000000	0.71417	0.564000	0.28396	0.469000	0.32828	7.615000	0.83006	2.789000	0.95967	0.655000	0.94253	GAA		0.512	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1		NM_018027		15	110	0	0	0	0.004007	0	15	110		
ZNF438	220929	broad.mit.edu	37	10	31133898	31133898	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr10:31133898C>T	ENST00000361310.3	-	7	2808	c.2479G>A	c.(2479-2481)Gag>Aag	p.E827K	ZNF438_ENST00000538351.2_Missense_Mutation_p.E778K|ZNF438_ENST00000413025.1_Missense_Mutation_p.E827K|ZNF438_ENST00000442986.1_Missense_Mutation_p.E827K|ZNF438_ENST00000452305.1_Missense_Mutation_p.E817K|ZNF438_ENST00000375311.1_Missense_Mutation_p.E391K|ZNF438_ENST00000444692.2_Missense_Mutation_p.E817K|ZNF438_ENST00000436087.2_Missense_Mutation_p.E827K|ZNF438_ENST00000331737.6_Missense_Mutation_p.E817K			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	827					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E827K(1)|p.E827Q(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCTCATTTCTCAGCTTCACTG	0.512																																						uc010qdz.1		NaN																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(2479-2481)GAG>AAG		zinc finger protein 438 isoform a							164.0	169.0	167.0					10																	31133898		2203	4300	6503	SO:0001583	missense	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31133898C>T	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.2479G>A	10.37:g.31133898C>T	ENSP00000354663:p.Glu827Lys					ZNF438_uc001ivn.2_Missense_Mutation_p.E778K|ZNF438_uc010qdy.1_Missense_Mutation_p.E817K|ZNF438_uc001ivo.3_Missense_Mutation_p.E391K|ZNF438_uc009xlg.2_Missense_Mutation_p.E827K|ZNF438_uc001ivp.3_Missense_Mutation_p.E817K|ZNF438_uc010qea.1_Missense_Mutation_p.E827K|ZNF438_uc010qeb.1_Missense_Mutation_p.E827K	p.E827K	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN			8	2914	-		Prostate(175;0.0587)	827					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	c.2479G>A	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517615	0.44763	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896;ENST00000375311	T;T;T;T;T;T;T;T;T	0.10192	2.94;2.95;2.95;2.95;2.95;2.94;2.94;2.96;2.9	5.5	2.63	0.31362	.	0.789542	0.12290	N	0.482076	T	0.11537	0.0281	L	0.50333	1.59	0.09310	N	1	B;B	0.23806	0.055;0.091	B;B	0.24541	0.024;0.054	T	0.23511	-1.0186	10	0.54805	T	0.06	-0.9858	8.1793	0.31300	0.0:0.7623:0.0:0.2377	.	827;817	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	K	817;827;827;827;827;817;817;778;546;391	ENSP00000333571:E817K;ENSP00000354663:E827K;ENSP00000406934:E827K;ENSP00000412363:E827K;ENSP00000387546:E827K;ENSP00000413060:E817K;ENSP00000410898:E817K;ENSP00000445461:E778K;ENSP00000364460:E391K	ENSP00000333571:E817K	E	-	1	0	ZNF438	31173904	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.076000	0.14712	0.366000	0.24427	0.655000	0.94253	GAG		0.512	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1		NM_182755		29	298	0	0	0	0.008361	0	29	298		
PARD3	56288	broad.mit.edu	37	10	34420399	34420399	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr10:34420399G>C	ENST00000374789.3	-	23	3866	c.3541C>G	c.(3541-3543)Caa>Gaa	p.Q1181E	PARD3_ENST00000374794.3_Missense_Mutation_p.Q1069E|PARD3_ENST00000374788.3_Missense_Mutation_p.Q1178E|PARD3_ENST00000545260.1_Missense_Mutation_p.Q1091E|PARD3_ENST00000350537.4_Missense_Mutation_p.Q1135E|PARD3_ENST00000346874.4_Missense_Mutation_p.Q1144E|PARD3_ENST00000545693.1_Missense_Mutation_p.Q1165E|PARD3_ENST00000374790.3_Missense_Mutation_p.Q1121E	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1181					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				ACCCAGGGTTGCTCAAAACTA	0.463																																						uc010qej.1		NaN																	0				ovary(1)	1						c.(3541-3543)CAA>GAA		partitioning-defective protein 3 homolog							222.0	182.0	195.0					10																	34420399		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34420399G>C	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3541C>G	10.37:g.34420399G>C	ENSP00000363921:p.Gln1181Glu					PARD3_uc010qek.1_Missense_Mutation_p.Q1178E|PARD3_uc010qel.1_Missense_Mutation_p.Q1144E|PARD3_uc010qem.1_Missense_Mutation_p.Q1165E|PARD3_uc010qen.1_Missense_Mutation_p.Q1135E|PARD3_uc010qeo.1_Missense_Mutation_p.Q1098E|PARD3_uc010qep.1_Missense_Mutation_p.Q1091E|PARD3_uc010qeq.1_Missense_Mutation_p.Q1069E	p.Q1181E	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN			23	3541	-		Breast(68;0.0707)	1181					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.3541C>G	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	G	3.566	-0.088665	0.07097	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.15372	2.52;2.47;2.59;2.59;2.49;2.43;2.47;2.53	5.94	5.94	0.96194	.	0.052365	0.85682	D	0.000000	T	0.31167	0.0788	L	0.28115	0.83	0.80722	D	1	B;D;B;B;B;B;B;B	0.61697	0.014;0.99;0.002;0.002;0.002;0.014;0.002;0.001	B;D;B;B;B;B;B;B	0.72982	0.027;0.979;0.004;0.004;0.004;0.019;0.004;0.002	T	0.01140	-1.1439	10	0.28530	T	0.3	.	20.3594	0.98849	0.0:0.0:1.0:0.0	.	1069;1091;1098;1135;1165;1144;1178;1181	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	E	1165;1091;1181;1178;1144;1069;1135;1121	ENSP00000443147:Q1165E;ENSP00000440857:Q1091E;ENSP00000363921:Q1181E;ENSP00000363920:Q1178E;ENSP00000340591:Q1144E;ENSP00000363926:Q1069E;ENSP00000311986:Q1135E;ENSP00000363922:Q1121E	ENSP00000340591:Q1144E	Q	-	1	0	PARD3	34460405	1.000000	0.71417	0.985000	0.45067	0.423000	0.31445	9.372000	0.97165	2.816000	0.96949	0.563000	0.77884	CAA		0.463	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1		NM_019619		15	57	0	0	0	0.003163	0	15	57		
ZNF37A	7587	broad.mit.edu	37	10	38406754	38406754	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr10:38406754C>G	ENST00000361085.5	+	7	1020	c.675C>G	c.(673-675)agC>agG	p.S225R	ZNF37A_ENST00000351773.3_Missense_Mutation_p.S225R	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	225					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						ACCCATTCAGCCAGAAGTTAA	0.348																																						uc001izk.2		NaN																	0				breast(1)	1						c.(673-675)AGC>AGG		zinc finger protein 37a							54.0	54.0	54.0					10																	38406754		2203	4300	6503	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38406754C>G	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.675C>G	10.37:g.38406754C>G	ENSP00000354377:p.Ser225Arg					ZNF37A_uc001izl.2_Missense_Mutation_p.S225R|ZNF37A_uc001izm.2_Missense_Mutation_p.S225R	p.S225R	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN			8	1494	+			225					B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.675C>G	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	C	0.068	-1.208187	0.01568	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.07444	3.19;3.19	2.34	0.381	0.16228	.	.	.	.	.	T	0.03871	0.0109	N	0.16903	0.455	0.09310	N	1	B	0.24675	0.109	B	0.14023	0.01	T	0.46205	-0.9208	9	0.17369	T	0.5	.	3.0859	0.06278	0.0:0.4711:0.2315:0.2975	.	225	P17032	ZN37A_HUMAN	R	225	ENSP00000329141:S225R;ENSP00000354377:S225R	ENSP00000329141:S225R	S	+	3	2	ZNF37A	38446760	0.000000	0.05858	0.137000	0.22149	0.597000	0.36814	-1.252000	0.02880	-0.044000	0.13491	-0.216000	0.12614	AGC		0.348	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2		NM_003421		6	55	0	0	0	0.001168	0	6	55		
EIF5AL1	143244	broad.mit.edu	37	10	81272751	81272751	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr10:81272751G>A	ENST00000520547.2	+	1	395	c.346G>A	c.(346-348)Gag>Aag	p.E116K	AL133481.1_ENST00000538322.1_5'Flank	NM_001099692.1	NP_001093162.1	Q6IS14	IF5AL_HUMAN	eukaryotic translation initiation factor 5A-like 1	116					mRNA transport (GO:0051028)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|protein transport (GO:0015031)|translational frameshifting (GO:0006452)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)	ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			endometrium(1)	1	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TCGTCTCCCTGAGGGAGACCT	0.537																																						uc009xrx.2		NaN																	0					0						c.(346-348)GAG>AAG		eukaryotic translation initiation factor 5A-like							78.0	93.0	88.0					10																	81272751		2199	4295	6494	SO:0001583	missense	143244				mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport	endoplasmic reticulum membrane|nuclear pore	ribosome binding|translation elongation factor activity	g.chr10:81272751G>A		CCDS53546.1	10q22.3	2012-04-19			ENSG00000253626	ENSG00000253626			17419	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 5A pseudogene 1"""	EIF5AP1			Standard	NM_001099692		Approved	bA342M3.3	uc009xrx.3	Q6IS14	OTTHUMG00000018563	ENST00000520547.2:c.346G>A	10.37:g.81272751G>A	ENSP00000430706:p.Glu116Lys					uc010qls.1_5'Flank	p.E116K	NM_001099692	NP_001093162	Q6IS14	IF5AL_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		1	395	+	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		116						Missense_Mutation	SNP	ENST00000520547.2	37	c.346G>A	CCDS53546.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648140	0.67358	.	.	ENSG00000253626	ENST00000520547	T	0.46819	0.86	0.882	0.882	0.19172	Nucleic acid-binding, OB-fold-like (1);Translation elongation factor, IF5A C-terminal (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.37433	0.1003	L	0.53617	1.68	0.34472	D	0.702861	P	0.38745	0.645	B	0.35182	0.197	T	0.48885	-0.8995	9	0.48119	T	0.1	.	7.3256	0.26553	0.0:0.0:1.0:0.0	.	116	Q6IS14	IF5AL_HUMAN	K	116	ENSP00000430706:E116K	ENSP00000430706:E116K	E	+	1	0	EIF5AL1	80942757	1.000000	0.71417	0.954000	0.39281	0.480000	0.33159	4.066000	0.57520	0.435000	0.26365	0.064000	0.15345	GAG		0.537	EIF5AL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048954.4		NM_001099692		6	154	0	0	0	0.00308	0	6	154		
TSPAN14	81619	broad.mit.edu	37	10	82269071	82269071	+	Silent	SNP	C	C	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr10:82269071C>A	ENST00000429989.3	+	5	517	c.294C>A	c.(292-294)atC>atA	p.I98I	TSPAN14_ENST00000372156.1_Silent_p.I98I|TSPAN14_ENST00000372158.1_Silent_p.I98I|TSPAN14_ENST00000341863.6_Intron|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372164.3_Silent_p.I81I	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	98					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			GTGGCACCATCGTGCTCATCT	0.617																																						uc001kcj.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(292-294)ATC>ATA		tetraspanin 14 isoform 1							119.0	94.0	103.0					10																	82269071		2203	4300	6503	SO:0001819	synonymous_variant	81619					integral to membrane		g.chr10:82269071C>A	AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"""Tetraspanins"""	23303	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 14"""	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.294C>A	10.37:g.82269071C>A						TSPAN14_uc009xss.2_Intron|TSPAN14_uc001kci.3_Silent_p.I81I	p.I98I	NM_030927	NP_112189	Q8NG11	TSN14_HUMAN	Colorectal(32;0.229)		5	401	+			98			Helical; (Potential).		A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Silent	SNP	ENST00000429989.3	37	c.294C>A	CCDS7369.1																																																																																				0.617	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049081.2		NM_030927		7	42	1	0	0.00198382	0.001984	0.00202847	7	42		
CHST15	51363	broad.mit.edu	37	10	125798151	125798151	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr10:125798151G>T	ENST00000346248.5	-	5	1712	c.1070C>A	c.(1069-1071)gCc>gAc	p.A357D	CHST15_ENST00000435907.1_Missense_Mutation_p.A357D|CHST15_ENST00000421115.1_Missense_Mutation_p.A357D	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	357					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GAACGTCCAGGCATTATTATC	0.547																																						uc001lhl.2		NaN																	0				ovary(1)	1						c.(1069-1071)GCC>GAC		B cell RAG associated protein							105.0	86.0	92.0					10																	125798151		2203	4300	6503	SO:0001583	missense	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125798151G>T	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.1070C>A	10.37:g.125798151G>T	ENSP00000333947:p.Ala357Asp					CHST15_uc001lhm.2_Missense_Mutation_p.A357D|CHST15_uc001lhn.2_Missense_Mutation_p.A357D|CHST15_uc010que.1_Missense_Mutation_p.A357D|CHST15_uc001lho.2_Missense_Mutation_p.A357D	p.A357D	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN			4	1583	-			357			Lumenal (Potential).		O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	c.1070C>A	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824120	0.90873	.	.	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000546346;ENST00000421115	.	.	.	5.41	5.41	0.78517	Sulfotransferase domain (1);	0.053275	0.85682	D	0.000000	D	0.82861	0.5129	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.81914	0.995;0.944	D	0.84042	0.0365	9	0.72032	D	0.01	-36.3432	19.3887	0.94570	0.0:0.0:1.0:0.0	.	357;357	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	D	357	.	ENSP00000333947:A357D	A	-	2	0	CHST15	125788141	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	9.610000	0.98337	2.826000	0.97356	0.655000	0.94253	GCC		0.547	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1		NM_015892		10	52	1	0	3.86212e-05	0.008291	4.01358e-05	10	52		
MUC5B	727897	broad.mit.edu	37	11	1264405	1264405	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr11:1264405A>C	ENST00000529681.1	+	31	6353	c.6295A>C	c.(6295-6297)Acc>Ccc	p.T2099P	MUC5B_ENST00000447027.1_Missense_Mutation_p.T2102P|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2099	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCGGGGACCACCCACACCGC	0.632																																						uc009ycr.1		NaN																	0					0						c.(8374-8376)ACC>CCC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							19.0	25.0	23.0					11																	1264405		1719	3860	5579	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264405A>C	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6295A>C	11.37:g.1264405A>C	ENSP00000436812:p.Thr2099Pro					MUC5B_uc001ltb.2_Missense_Mutation_p.T2102P	p.T2792P	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	47	8500	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2099			7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.8374A>C	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	a	5.942	0.357883	0.11239	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19938	2.11;2.28	2.33	-0.436	0.12275	.	.	.	.	.	T	0.32526	0.0832	M	0.68317	2.08	0.09310	N	1	D;D	0.69078	0.997;0.997	P;P	0.60789	0.879;0.879	T	0.16660	-1.0395	9	0.87932	D	0	.	2.7688	0.05328	0.5758:0.0:0.2337:0.1905	.	2792;2102	A7Y9J9;E9PBJ0	.;.	P	2099;2102;2100;2169	ENSP00000436812:T2099P;ENSP00000415793:T2102P	ENSP00000343037:T2100P	T	+	1	0	MUC5B	1220981	0.000000	0.05858	0.001000	0.08648	0.180000	0.23129	-0.417000	0.07088	-0.258000	0.09446	0.164000	0.16699	ACC		0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2		XM_001126093		7	20	0	0	0	0.007413	0	7	20		
ST5	6764	broad.mit.edu	37	11	8724142	8724142	+	Silent	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr11:8724142G>C	ENST00000534127.1	-	17	3082	c.2697C>G	c.(2695-2697)gtC>gtG	p.V899V	ST5_ENST00000530438.1_Silent_p.V479V|ST5_ENST00000313726.6_Silent_p.V899V|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000526099.1_Silent_p.V412V|ST5_ENST00000526757.1_Silent_p.V479V|ST5_ENST00000357665.1_Silent_p.V899V|ST5_ENST00000534278.1_Silent_p.V90V|ST5_ENST00000530991.1_Silent_p.V371V	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	899	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CCACAAAAATGACCCGGCGCT	0.572																																						uc001mgt.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(2695-2697)GTC>GTG		suppression of tumorigenicity 5 isoform 1							59.0	55.0	56.0					11																	8724142		2201	4296	6497	SO:0001819	synonymous_variant	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8724142G>C	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.2697C>G	11.37:g.8724142G>C						ST5_uc009yfr.2_Silent_p.V479V|ST5_uc001mgu.2_Silent_p.V479V|ST5_uc001mgv.2_Silent_p.V899V|ST5_uc010rbp.1_Silent_p.V412V|ST5_uc009yfs.2_RNA	p.V899V	NM_213618	NP_998783	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	14	2883	-			899			DENN.		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Silent	SNP	ENST00000534127.1	37	c.2697C>G	CCDS7791.1																																																																																				0.572	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1		NM_005418		6	89	0	0	0	0.001168	0	6	89		
CHRM4	1132	broad.mit.edu	37	11	46407836	46407836	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr11:46407836A>G	ENST00000433765.2	-	1	271	c.272T>C	c.(271-273)gTg>gCg	p.V91A		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	91					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GATGATGTACACGGTGTAGAG	0.577																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	uc001nct.1		NaN																	0					0						c.(271-273)GTG>GCG		cholinergic receptor, muscarinic 4	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)						94.0	99.0	98.0					11																	46407836		2193	4296	6489	SO:0001583	missense	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46407836A>G	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1953	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 4"""	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.272T>C	11.37:g.46407836A>G	ENSP00000409378:p.Val91Ala						p.V91A	NM_000741	NP_000732	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	1	272	-			91			Extracellular (By similarity).		B2RPP4|Q0VD60|Q4VBK7	Missense_Mutation	SNP	ENST00000433765.2	37	c.272T>C	CCDS44581.1	.	.	.	.	.	.	.	.	.	.	A	11.91	1.781013	0.31502	.	.	ENSG00000180720	ENST00000433765	T	0.72394	-0.65	4.81	4.81	0.61882	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.61400	0.2344	L	0.35644	1.08	0.38741	D	0.953895	B	0.28026	0.198	B	0.28305	0.088	T	0.61317	-0.7087	9	0.28530	T	0.3	-18.7379	14.5168	0.67824	1.0:0.0:0.0:0.0	.	91	P08173	ACM4_HUMAN	A	91	ENSP00000409378:V91A	ENSP00000409378:V91A	V	-	2	0	CHRM4	46364412	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	9.129000	0.94430	2.014000	0.59158	0.374000	0.22700	GTG		0.577	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1		NM_000741		10	62	0	0	0	0.006214	0	10	62		
CABP4	57010	broad.mit.edu	37	11	67223087	67223087	+	Missense_Mutation	SNP	G	G	A	rs149056460		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr11:67223087G>A	ENST00000325656.5	+	1	270	c.193G>A	c.(193-195)Gag>Aag	p.E65K	CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_Intron|GPR152_ENST00000312457.2_5'Flank	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	65					photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GACAGGCCCCGAGGCCCCGGG	0.701													G|||	1	0.000199681	0.0	0.0	5008	,	,		14327	0.0		0.0	False		,,,				2504	0.001					uc001olo.2		NaN																	0					0						c.(193-195)GAG>AAG		calcium binding protein 4		G	LYS/GLU	0,4372		0,0,2186	12.0	14.0	13.0		193	0.7	0.0	11	dbSNP_134	13	3,8553		0,3,4275	no	missense	CABP4	NM_145200.3	56	0,3,6461	AA,AG,GG		0.0351,0.0,0.0232	possibly-damaging	65/276	67223087	3,12925	2186	4278	6464	SO:0001583	missense	57010				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	g.chr11:67223087G>A	AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"""EF-hand domain containing"""	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.193G>A	11.37:g.67223087G>A	ENSP00000324960:p.Glu65Lys					GPR152_uc001olm.2_5'Flank|CABP4_uc001oln.2_Intron	p.E65K	NM_145200	NP_660201	P57796	CABP4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		1	270	+			65					Q8N4Z2|Q8WWY5	Missense_Mutation	SNP	ENST00000325656.5	37	c.193G>A	CCDS8166.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013792	0.35511	0.0	3.51E-4	ENSG00000175544	ENST00000325656	T	0.68025	-0.3	4.74	0.69	0.18039	.	1.141070	0.06717	N	0.774154	T	0.60353	0.2262	M	0.65975	2.015	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40757	-0.9546	10	0.27082	T	0.32	-12.5175	4.7269	0.12945	0.2721:0.1574:0.5705:0.0	.	65	P57796	CABP4_HUMAN	K	65	ENSP00000324960:E65K	ENSP00000324960:E65K	E	+	1	0	CABP4	66979663	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.302000	0.19192	-0.045000	0.13468	-0.326000	0.08463	GAG		0.701	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397624.2				3	24	0	0	0	0.004672	0	3	24		
KRTAP5-10	387273	broad.mit.edu	37	11	71276978	71276978	+	Silent	SNP	C	C	T	rs77786965		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr11:71276978C>T	ENST00000398531.1	+	1	370	c.345C>T	c.(343-345)ggC>ggT	p.G115G	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	115	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGGGCTGTGGCTCCTGTGGGG	0.667																																						uc001oqt.1		NaN																	0				skin(1)	1						c.(343-345)GGC>GGT		keratin associated protein 5-10							52.0	76.0	68.0					11																	71276978		2184	4289	6473	SO:0001819	synonymous_variant	387273					keratin filament		g.chr11:71276978C>T	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.345C>T	11.37:g.71276978C>T							p.G115G	NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN			1	370	+			115			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Silent	SNP	ENST00000398531.1	37	c.345C>T	CCDS41684.1																																																																																				0.667	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2				6	240	0	0	0	0.006214	0	6	240		
MTNR1B	4544	broad.mit.edu	37	11	92703069	92703069	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr11:92703069C>T	ENST00000257068.2	+	1	184	c.178C>T	c.(178-180)Ctg>Ttg	p.L60L		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	60					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	GGGCAACCTCCTGGTGATCCT	0.667																																						uc001pdk.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(178-180)CTG>TTG		melatonin receptor 1B	Ramelteon(DB00980)						35.0	28.0	31.0					11																	92703069		2199	4292	6491	SO:0001819	synonymous_variant	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92703069C>T	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.178C>T	11.37:g.92703069C>T							p.L60L	NM_005959	NP_005950	P49286	MTR1B_HUMAN			1	281	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	60			Helical; Name=1; (Potential).			Silent	SNP	ENST00000257068.2	37	c.178C>T	CCDS8290.1																																																																																				0.667	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1				5	13	0	0	0	0.001168	0	5	13		
MAML2	84441	broad.mit.edu	37	11	95724768	95724768	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr11:95724768C>G	ENST00000524717.1	-	3	3543	c.2259G>C	c.(2257-2259)ttG>ttC	p.L753F		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	753					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TCTTTCCCATCAATTGCTGAT	0.488			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	uc001pfw.1		NaN		Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	MECT1|CRTC3		salivary gland mucoepidermoid	CRTC1/MAML2(516)|CRTC3/MAML2(26)	0				salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546						c.(2257-2259)TTG>TTC		mastermind-like 2							155.0	149.0	151.0					11																	95724768		1930	4148	6078	SO:0001583	missense	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95724768C>G	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2259G>C	11.37:g.95724768C>G	ENSP00000434552:p.Leu753Phe						p.L753F	NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN			3	3544	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	753					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.2259G>C	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129372	0.77549	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.44881	0.91;0.91	5.46	5.46	0.80206	.	0.307754	0.23201	N	0.050782	T	0.34978	0.0916	N	0.24115	0.695	0.42072	D	0.991215	P	0.50443	0.935	P	0.45449	0.481	T	0.06862	-1.0803	10	0.11485	T	0.65	-5.7635	19.3049	0.94157	0.0:1.0:0.0:0.0	.	753	Q8IZL2	MAML2_HUMAN	F	753	ENSP00000434552:L753F;ENSP00000412394:L753F	ENSP00000412394:L753F	L	-	3	2	MAML2	95364416	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.655000	0.54460	2.577000	0.86979	0.557000	0.71058	TTG		0.488	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1				19	109	0	0	0	0.006122	0	19	109		
ATM	472	broad.mit.edu	37	11	108218071	108218071	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr11:108218071G>C	ENST00000452508.2	+	60	8839	c.8650G>C	c.(8650-8652)Gaa>Caa	p.E2884Q	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.E2884Q|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000526725.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2884	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GCAGTCAGCAGAACTTGTACA	0.313			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NaN	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(8650-8652)GAA>CAA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							96.0	101.0	99.0					11																	108218071		2201	4294	6495	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108218071G>C	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8650G>C	11.37:g.108218071G>C	ENSP00000388058:p.Glu2884Gln	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.E2884Q|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.E1536Q	p.E2884Q	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	59	9035	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2884			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8650G>C	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270154	0.80469	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.81579	-1.51;-1.51	5.52	3.66	0.41972	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.051587	0.85682	D	0.000000	D	0.88599	0.6480	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88694	0.3211	10	0.72032	D	0.01	.	12.3394	0.55085	0.1201:0.0:0.8799:0.0	.	2884	Q13315	ATM_HUMAN	Q	2884	ENSP00000278616:E2884Q;ENSP00000388058:E2884Q	ENSP00000278616:E2884Q	E	+	1	0	ATM	107723281	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.068000	0.71201	0.700000	0.31782	0.555000	0.69702	GAA		0.313	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1		NM_000051		11	26	0	0	0	0.008291	0	11	26		
BUD13	84811	broad.mit.edu	37	11	116633771	116633772	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr11:116633771_116633772CC>AT	ENST00000260210.4	-	4	556_557	c.533_534GG>AT	c.(532-534)aGG>aAT	p.R178N	BUD13_ENST00000375445.3_Missense_Mutation_p.R178N	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	178	Arg-rich.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GACGGATCCTCCTGGGAGGAGA	0.584																																						uc001ppn.2		NaN																	0				large_intestine(1)|pancreas(1)	2						c.(532-534)AGG>AAT		BUD13 homolog isoform 1																																				SO:0001583	missense	84811							g.chr11:116633771_116633772CC>AT	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.533_534delinsAT	11.37:g.116633771_116633772delinsAT	ENSP00000260210:p.Arg178Asn					BUD13_uc001ppo.2_Missense_Mutation_p.R178N|BUD13_uc009yzc.2_Missense_Mutation_p.R178N	p.R178N	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	4	567_568	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	178			Arg-rich.		A8K0S0|Q96LS7	Missense_Mutation	DNP	ENST00000260210.4	37	c.533_534GG>AT	CCDS8374.1																																																																																				0.584	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1		NM_032725		33	215	0	0	0	0.004672	0	33	215		
CXCR5	643	broad.mit.edu	37	11	118754653	118754653	+	Start_Codon_SNP	SNP	G	G	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr11:118754653G>T	ENST00000292174.4	+	1	179	c.3G>T	c.(1-3)atG>atT	p.M1I	RP11-158I9.5_ENST00000498872.2_RNA	NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	1					B cell activation (GO:0042113)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of cytokinesis (GO:0032467)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GCACAGCCATGAACTACCCGC	0.577																																						uc001pue.3		NaN																	0				breast(1)	1						c.(1-3)ATG>ATT		Burkitt lymphoma receptor 1 isoform 1							63.0	53.0	56.0					11																	118754653		2200	4295	6495	SO:0001582	initiator_codon_variant	643				B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity	g.chr11:118754653G>T	X68829	CCDS8402.1	11q23.3	2012-08-08	2008-01-22	2008-01-22	ENSG00000160683	ENSG00000160683		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	1060	protein-coding gene	gene with protein product		601613	"""Burkitt lymphoma receptor 1, GTP-binding protein"", ""Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5)"""	BLR1		1425907	Standard	NM_001716		Approved	MDR15, CD185	uc001pue.4	P32302	OTTHUMG00000166345	ENST00000292174.4:c.3G>T	11.37:g.118754653G>T	ENSP00000292174:p.Met1Ile						p.M1I	NM_001716	NP_001707	P32302	CXCR5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)	1	113	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	1			Extracellular (Potential).		Q14811	Missense_Mutation	SNP	ENST00000292174.4	37	c.3G>T	CCDS8402.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036019	0.54896	.	.	ENSG00000160683	ENST00000292174	T	0.66460	-0.21	4.59	4.59	0.56863	.	0.869908	0.09901	U	0.741051	T	0.59918	0.2229	.	.	.	0.28920	N	0.892167	B	0.18741	0.03	B	0.18263	0.021	T	0.56245	-0.8011	9	0.87932	D	0	.	13.0855	0.59138	0.0:0.0:1.0:0.0	.	1	P32302	CXCR5_HUMAN	I	1	ENSP00000292174:M1I	ENSP00000292174:M1I	M	+	3	0	CXCR5	118259863	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	4.177000	0.58276	2.549000	0.85964	0.561000	0.74099	ATG		0.577	CXCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389309.1		NM_001716	Missense_Mutation	4	16	1	0	0.00909568	0.009096	0.00918231	4	16		
CDON	50937	broad.mit.edu	37	11	125850958	125850958	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr11:125850958G>A	ENST00000392693.3	-	17	3389	c.3262C>T	c.(3262-3264)Cat>Tat	p.H1088Y	CDON_ENST00000263577.7_Missense_Mutation_p.H1088Y|CDON_ENST00000531738.1_Missense_Mutation_p.H465Y	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1088					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		ACTAGATGATGAGGATGTTCA	0.463																																						uc009zbw.2		NaN																	0				ovary(3)|skin(2)|breast(1)	6						c.(3262-3264)CAT>TAT		surface glycoprotein, Ig superfamily member							133.0	122.0	126.0					11																	125850958		2201	4299	6500	SO:0001583	missense	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125850958G>A	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.3262C>T	11.37:g.125850958G>A	ENSP00000376458:p.His1088Tyr					CDON_uc001qdb.3_Missense_Mutation_p.H465Y|CDON_uc001qdc.3_Missense_Mutation_p.H1088Y	p.H1088Y	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	17	3390	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	1088			Cytoplasmic (Potential).		O14631	Missense_Mutation	SNP	ENST00000392693.3	37	c.3262C>T	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569575	0.86439	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.72394	-0.63;0.02;-0.65	5.67	5.67	0.87782	.	0.131129	0.34338	N	0.004051	D	0.82328	0.5013	M	0.62723	1.935	0.47441	D	0.999424	D;D;D	0.71674	0.997;0.998;0.981	P;D;P	0.63488	0.886;0.915;0.664	D	0.83427	0.0036	10	0.87932	D	0	-5.0054	19.7606	0.96314	0.0:0.0:1.0:0.0	.	1088;1088;465	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	Y	1088;465;1088	ENSP00000376458:H1088Y;ENSP00000432901:H465Y;ENSP00000263577:H1088Y	ENSP00000263577:H1088Y	H	-	1	0	CDON	125356168	1.000000	0.71417	0.985000	0.45067	0.903000	0.53119	7.896000	0.87350	2.661000	0.90470	0.579000	0.79373	CAT		0.463	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2		NM_016952		33	85	0	0	0	0.009535	0	33	85		
CDON	50937	broad.mit.edu	37	11	125889616	125889616	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr11:125889616C>G	ENST00000392693.3	-	4	521	c.394G>C	c.(394-396)Gaa>Caa	p.E132Q	CDON_ENST00000263577.7_Missense_Mutation_p.E132Q	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	132	Ig-like C2-type 2.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CTTTTTTCTTCTGCTGTAATA	0.393																																						uc009zbw.2		NaN																	0				ovary(3)|skin(2)|breast(1)	6						c.(394-396)GAA>CAA		surface glycoprotein, Ig superfamily member							68.0	70.0	69.0					11																	125889616		2201	4299	6500	SO:0001583	missense	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125889616C>G	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.394G>C	11.37:g.125889616C>G	ENSP00000376458:p.Glu132Gln					CDON_uc001qdc.3_Missense_Mutation_p.E132Q|CDON_uc001qdd.3_RNA|CDON_uc009zbx.2_Missense_Mutation_p.E132Q	p.E132Q	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	4	522	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	132			Extracellular (Potential).|Ig-like C2-type 2.		O14631	Missense_Mutation	SNP	ENST00000392693.3	37	c.394G>C	CCDS58192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.392526|4.392526	0.83011|0.83011	.|.	.|.	ENSG00000064309|ENSG00000064309	ENST00000392693;ENST00000263577;ENST00000531586;ENST00000527967|ENST00000534661	T;T;T;T|.	0.67523|.	2.62;2.62;0.16;-0.27|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Immunoglobulin subtype (1);|.	0.000000|.	0.56097|.	D|.	0.000037|.	T|T	0.65964|0.65964	0.2742|0.2742	L|L	0.36672|0.36672	1.1|1.1	0.43657|0.43657	D|D	0.996079|0.996079	D;P;P|.	0.89917|.	1.0;0.844;0.812|.	D;P;P|.	0.87578|.	0.998;0.615;0.481|.	T|T	0.60193|0.60193	-0.7311|-0.7311	10|5	0.15499|.	T|.	0.54|.	-30.4845|-30.4845	19.6891|19.6891	0.95991|0.95991	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	132;132;132|.	E9PRD8;Q4KMG0;Q4KMG0-2|.	.;CDON_HUMAN;.|.	Q|T	132|107	ENSP00000376458:E132Q;ENSP00000263577:E132Q;ENSP00000434212:E132Q;ENSP00000436940:E132Q|.	ENSP00000263577:E132Q|.	E|R	-|-	1|2	0|0	CDON|CDON	125394826|125394826	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.995000|0.995000	0.86356|0.86356	4.830000|4.830000	0.62745|0.62745	2.706000|2.706000	0.92434|0.92434	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.393	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2		NM_016952		25	132	0	0	0	0.00278	0	25	132		
APLP2	334	broad.mit.edu	37	11	130011399	130011399	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr11:130011399G>T	ENST00000263574.5	+	16	2038	c.1966G>T	c.(1966-1968)Gac>Tac	p.D656Y	APLP2_ENST00000338167.5_Missense_Mutation_p.D644Y|APLP2_ENST00000528499.1_Missense_Mutation_p.D588Y|APLP2_ENST00000278756.7_Missense_Mutation_p.D654Y|APLP2_ENST00000539648.1_Missense_Mutation_p.D444Y|APLP2_ENST00000543137.1_Missense_Mutation_p.D551Y|APLP2_ENST00000345598.5_Missense_Mutation_p.D415Y	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	656					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)		TCAGGTCATTGACGAGACTCT	0.498																																						uc010sby.1		NaN																	0				ovary(3)	3						c.(1966-1968)GAC>TAC		amyloid beta (A4) precursor-like protein 2							111.0	107.0	109.0					11																	130011399		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.chr11:130011399G>T	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.1966G>T	11.37:g.130011399G>T	ENSP00000263574:p.Asp656Tyr					APLP2_uc001qfp.2_Missense_Mutation_p.D644Y|APLP2_uc001qfq.2_Missense_Mutation_p.D588Y|APLP2_uc010sbz.1_Missense_Mutation_p.D444Y|APLP2_uc001qfr.2_Missense_Mutation_p.D410Y|APLP2_uc001qfs.2_Missense_Mutation_p.D415Y|APLP2_uc001qfv.2_Missense_Mutation_p.D547Y|APLP2_uc009zcv.2_Missense_Mutation_p.D4Y	p.D656Y	NM_001642	NP_001633	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	16	2123	+	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)	656			Extracellular (Potential).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	c.1966G>T	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763981	0.89932	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	D;D;D;D;D;D;D	0.94537	-3.43;-3.24;-1.75;-3.45;-1.92;-1.93;-1.91	6.17	6.17	0.99709	.	0.099738	0.64402	D	0.000002	D	0.96950	0.9004	M	0.68952	2.095	0.80722	D	1	D;D;D;B;P;D;D	0.89917	1.0;1.0;1.0;0.331;0.911;0.999;1.0	D;D;D;B;B;D;D	0.91635	0.999;0.999;0.986;0.211;0.288;0.939;0.988	D	0.95895	0.8910	9	.	.	.	-32.9665	19.8676	0.96824	0.0:0.0:1.0:0.0	.	444;656;600;415;582;588;644	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	Y	588;444;656;415;644;654;551	ENSP00000435914:D588Y;ENSP00000443728:D444Y;ENSP00000263574:D656Y;ENSP00000263575:D415Y;ENSP00000345444:D644Y;ENSP00000278756:D654Y;ENSP00000444122:D551Y	.	D	+	1	0	APLP2	129516609	1.000000	0.71417	0.681000	0.30009	0.817000	0.46193	9.230000	0.95299	2.941000	0.99782	0.655000	0.94253	GAC		0.498	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1		NM_001642		17	43	1	0	1.02788e-11	0.00499	1.12325e-11	17	43		
PRMT8	56341	broad.mit.edu	37	12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652																																						uc001qmf.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(91-93)TCC>CCC		HMT1 hnRNP methyltransferase-like 4							41.0	51.0	47.0					12																	3649787		2199	4299	6498	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649787T>C	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.91T>C	12.37:g.3649787T>C	ENSP00000372067:p.Ser31Pro					PRMT8_uc009zed.2_Missense_Mutation_p.S22P|PRMT8_uc009zee.1_RNA	p.S31P	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	458	+			31			SH3-binding 1.		B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.91T>C	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834665	0.50951	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.30182	1.65;1.54	5.52	-6.61	0.01818	.	0.606566	0.17318	N	0.178612	T	0.16171	0.0389	L	0.43152	1.355	0.28544	N	0.911948	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09997	-1.0649	10	0.29301	T	0.29	.	3.8844	0.09091	0.1085:0.1587:0.4822:0.2506	.	22;31	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	P	22;31	ENSP00000414507:S22P;ENSP00000372067:S31P	ENSP00000372067:S31P	S	+	1	0	PRMT8	3520048	0.000000	0.05858	0.001000	0.08648	0.946000	0.59487	-0.825000	0.04433	-0.996000	0.03455	0.460000	0.39030	TCC		0.652	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2		NM_019854		22	90	0	0	0	0.00623	0	22	90		
CLSTN3	9746	broad.mit.edu	37	12	7295617	7295617	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:7295617A>T	ENST00000266546.6	+	11	2143	c.1693A>T	c.(1693-1695)Atg>Ttg	p.M565L	CLSTN3_ENST00000537408.1_Missense_Mutation_p.M577L	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	565					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GGGCAAAGGCATGAAGGTATT	0.622																																						uc001qsr.2		NaN																	0				large_intestine(1)	1						c.(1693-1695)ATG>TTG		calsyntenin 3 precursor							63.0	54.0	57.0					12																	7295617		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7295617A>T	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1693A>T	12.37:g.7295617A>T	ENSP00000266546:p.Met565Leu					CLSTN3_uc001qss.2_Missense_Mutation_p.M577L	p.M565L	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN			11	1971	+			565			Extracellular (Potential).		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.1693A>T	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.013205	0.54468	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.31510	1.49;1.49	5.08	5.08	0.68730	.	0.081713	0.85682	D	0.000000	T	0.42404	0.1201	L	0.56769	1.78	0.80722	D	1	P;B	0.35745	0.518;0.008	P;B	0.47827	0.558;0.008	T	0.19582	-1.0301	10	0.25751	T	0.34	-37.8268	14.8549	0.70329	1.0:0.0:0.0:0.0	.	577;565	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	L	565;577	ENSP00000266546:M565L;ENSP00000440679:M577L	ENSP00000266546:M565L	M	+	1	0	CLSTN3	7186884	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.943000	0.92975	1.907000	0.55213	0.363000	0.22086	ATG		0.622	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2		NM_014718		8	47	0	0	0	0.00308	0	8	47		
SLC2A3	6515	broad.mit.edu	37	12	8086418	8086418	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:8086418A>T	ENST00000075120.7	-	2	336	c.96T>A	c.(94-96)aaT>aaA	p.N32K		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	32					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TCTCAGGAGCATTGATGACCC	0.453											OREG0021656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(96;424 1461 14416 20933 23688)	uc001qtr.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(94-96)AAT>AAA		solute carrier family 2 (facilitated glucose							97.0	95.0	96.0					12																	8086418		2203	4300	6503	SO:0001583	missense	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8086418A>T	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.96T>A	12.37:g.8086418A>T	ENSP00000075120:p.Asn32Lys		OREG0021656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	646	SLC2A3_uc001qts.2_Missense_Mutation_p.N32K	p.N32K	NM_006931	NP_008862	P11169	GTR3_HUMAN		Kidney(36;0.0866)	2	358	-			32			Extracellular (Potential).		B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	ENST00000075120.7	37	c.96T>A	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.018453	0.75275	.	.	ENSG00000059804	ENST00000075120	T	0.75050	-0.9	4.23	4.23	0.50019	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90092	0.6905	H	0.98089	4.145	0.58432	D	0.99999	D	0.60575	0.988	D	0.68765	0.96	D	0.92670	0.6149	10	0.87932	D	0	.	11.6418	0.51237	1.0:0.0:0.0:0.0	.	32	P11169	GTR3_HUMAN	K	32	ENSP00000075120:N32K	ENSP00000075120:N32K	N	-	3	2	SLC2A3	7977685	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	1.249000	0.32839	1.920000	0.55613	0.444000	0.29173	AAT		0.453	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1		NM_006931		6	73	0	0	0	0.001168	0	6	73		
CLEC9A	283420	broad.mit.edu	37	12	10205299	10205299	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:10205299G>C	ENST00000355819.1	+	4	626	c.13G>C	c.(13-15)Gaa>Caa	p.E5Q	CLEC9A_ENST00000544751.1_3'UTR	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	5					positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						GCACGAGGAAGAAATATACAC	0.448																																						uc001qxa.2		NaN																	0				ovary(1)	1						c.(13-15)GAA>CAA		C-type lectin domain family 9, member A							120.0	109.0	113.0					12																	10205299		2203	4300	6503	SO:0001583	missense	283420				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding	g.chr12:10205299G>C		CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.13G>C	12.37:g.10205299G>C	ENSP00000348074:p.Glu5Gln						p.E5Q	NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN			4	626	+			5			Cytoplasmic (Potential).|ITAM-like.		B0ZBM2	Missense_Mutation	SNP	ENST00000355819.1	37	c.13G>C	CCDS8611.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.874508	0.33069	.	.	ENSG00000197992	ENST00000355819	T	0.01665	4.7	4.19	3.3	0.37823	.	0.504438	0.16653	N	0.205137	T	0.03915	0.0110	L	0.50333	1.59	0.24965	N	0.991709	D	0.58620	0.983	P	0.53401	0.725	T	0.37911	-0.9685	10	0.45353	T	0.12	.	8.1097	0.30907	0.1084:0.0:0.8916:0.0	.	5	Q6UXN8	CLC9A_HUMAN	Q	5	ENSP00000348074:E5Q	ENSP00000348074:E5Q	E	+	1	0	CLEC9A	10096566	0.963000	0.33076	0.632000	0.29296	0.096000	0.18686	2.244000	0.43124	1.362000	0.46000	-0.140000	0.14226	GAA		0.448	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1		NM_207345		11	61	0	0	0	0.010729	0	11	61		
TAS2R31	259290	broad.mit.edu	37	12	11183288	11183288	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:11183288G>C	ENST00000390675.2	-	1	718	c.647C>G	c.(646-648)tCt>tGt	p.S216C	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	216					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|lung(6)	7						GGGATCTTGAGATCCTTTACC	0.408																																						uc001qzo.1		NaN																	0					0						c.(646-648)TCT>TGT		taste receptor, type 2, member 31							153.0	159.0	157.0					12																	11183288		2203	4298	6501	SO:0001583	missense	259290				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11183288G>C	AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19113	protein-coding gene	gene with protein product		612669	"""taste receptor, type 2, member 44"""	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.647C>G	12.37:g.11183288G>C	ENSP00000375093:p.Ser216Cys					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.S216C	NM_176885	NP_795366	P59538	T2R31_HUMAN			1	719	-			216			Cytoplasmic (Potential).		P59547|Q17R84|Q645X5	Missense_Mutation	SNP	ENST00000390675.2	37	c.647C>G	CCDS53747.1	.	.	.	.	.	.	.	.	.	.	.	5.858	0.342576	0.11069	.	.	ENSG00000256436	ENST00000390675	T	0.39997	1.05	2.62	0.437	0.16555	.	.	.	.	.	T	0.40815	0.1132	M	0.67953	2.075	0.09310	N	1	B	0.24675	0.109	B	0.32724	0.151	T	0.41805	-0.9488	9	0.41790	T	0.15	.	6.7766	0.23622	0.0:0.0:0.4985:0.5015	.	216	P59538	T2R31_HUMAN	C	216	ENSP00000375093:S216C	ENSP00000375093:S216C	S	-	2	0	TAS2R31	11074555	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-0.978000	0.03778	-0.026000	0.13895	0.194000	0.17425	TCT		0.408	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1		NM_176885		21	283	0	0	0	0.008871	0	21	283		
FAM60A	58516	broad.mit.edu	37	12	31446788	31446788	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:31446788C>G	ENST00000337682.4	-	4	674	c.306G>C	c.(304-306)agG>agC	p.R102S	FAM60A_ENST00000395766.1_5'UTR|FAM60A_ENST00000539409.1_Intron|FAM60A_ENST00000454658.2_Missense_Mutation_p.R102S|FAM60A_ENST00000542983.1_5'UTR	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	102					negative regulation of cell migration (GO:0030336)	Sin3 complex (GO:0016580)				large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					TGCTTTTTATCCTGTTCCCAG	0.333																																						uc010sjz.1		NaN																	0					0						c.(304-306)AGG>AGC		family with sequence similarity 60, member A							101.0	92.0	95.0					12																	31446788		2203	4297	6500	SO:0001583	missense	58516							g.chr12:31446788C>G	AF212220	CCDS8723.1	12p11.21	2012-11-30	2005-04-07	2005-04-07	ENSG00000139146	ENSG00000139146			30702	protein-coding gene	gene with protein product		615027	"""chromosome 12 open reading frame 14"""	C12orf14		11042152, 22984288, 22865885	Standard	NM_021238		Approved	TERA	uc001rke.3	Q9NP50	OTTHUMG00000168586	ENST00000337682.4:c.306G>C	12.37:g.31446788C>G	ENSP00000337477:p.Arg102Ser					FAM60A_uc001rkd.2_Missense_Mutation_p.R102S|FAM60A_uc010ska.1_Missense_Mutation_p.R102S|FAM60A_uc001rke.2_Missense_Mutation_p.R102S|FAM60A_uc010skb.1_Intron|FAM60A_uc001rkc.2_Missense_Mutation_p.R127S	p.R102S	NM_021238	NP_067061	Q9NP50	FA60A_HUMAN			4	545	-	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)		102					D3DUV8|Q9BSZ8	Missense_Mutation	SNP	ENST00000337682.4	37	c.306G>C	CCDS8723.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.718228	0.30503	.	.	ENSG00000139146	ENST00000337682;ENST00000454658;ENST00000398170;ENST00000539004;ENST00000543615	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	4.83	2.32	0.28847	.	0.433675	0.28677	N	0.014503	T	0.32406	0.0828	M	0.63843	1.955	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.09377	0.001;0.004	T	0.08126	-1.0737	10	0.16896	T	0.51	-3.0769	4.91	0.13816	0.0:0.5158:0.1734:0.3108	.	102;143	Q9NP50;B7Z287	FA60A_HUMAN;.	S	102;102;143;102;102	ENSP00000337477:R102S;ENSP00000393279:R102S;ENSP00000443881:R102S;ENSP00000437363:R102S	ENSP00000337477:R102S	R	-	3	2	FAM60A	31338055	0.982000	0.34865	1.000000	0.80357	0.995000	0.86356	0.120000	0.15647	0.525000	0.28522	0.561000	0.74099	AGG		0.333	FAM60A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400347.1		NM_021238		7	35	0	0	0	0.001984	0	7	35		
TMEM106C	79022	broad.mit.edu	37	12	48360997	48360997	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:48360997C>T	ENST00000429772.2	+	7	722	c.609C>T	c.(607-609)ttC>ttT	p.F203F	TMEM106C_ENST00000256686.6_Silent_p.F184F|TMEM106C_ENST00000552561.1_Silent_p.F203F|TMEM106C_ENST00000550552.1_Silent_p.F184F|TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000552546.1_Silent_p.F132F|TMEM106C_ENST00000449758.2_Silent_p.F184F	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	203						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		GTAGCTTCTTCTGCACGGTAC	0.488																																						uc001rqp.2		NaN																	0					0						c.(607-609)TTC>TTT		transmembrane protein 106C isoform a							268.0	249.0	255.0					12																	48360997		2203	4300	6503	SO:0001819	synonymous_variant	79022					endoplasmic reticulum membrane|integral to membrane		g.chr12:48360997C>T	BC000854	CCDS8758.1, CCDS44867.1	12q13.1	2005-12-19				ENSG00000134291			28775	protein-coding gene	gene with protein product							Standard	NM_024056		Approved	MGC5576	uc001rqr.3	Q9BVX2	OTTHUMG00000169892	ENST00000429772.2:c.609C>T	12.37:g.48360997C>T						TMEM106C_uc001rqo.2_Silent_p.F184F|TMEM106C_uc001rqr.2_Silent_p.F203F|TMEM106C_uc001rqq.2_Silent_p.F184F	p.F203F	NM_024056	NP_076961	Q9BVX2	T106C_HUMAN		GBM - Glioblastoma multiforme(48;0.241)	7	724	+		Acute lymphoblastic leukemia(13;0.11)	203			Helical; (Potential).		B2R998|B7Z5M4|Q3B761	Silent	SNP	ENST00000429772.2	37	c.609C>T	CCDS8758.1																																																																																				0.488	TMEM106C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406452.1		NM_024056		45	215	0	0	0	0.013114	0	45	215		
KRT6A	3853	broad.mit.edu	37	12	52886867	52886867	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:52886867C>T	ENST00000330722.6	-	1	174	c.106G>A	c.(106-108)Gtc>Atc	p.V36I		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	36	Head.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GACACGGAGACGCTGCTGAAG	0.667																																						uc001sam.2		NaN																	0				ovary(4)|skin(1)	5						c.(106-108)GTC>ATC		keratin 6A																																				SO:0001583	missense	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52886867C>T	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.106G>A	12.37:g.52886867C>T	ENSP00000369317:p.Val36Ile						p.V36I	NM_005554	NP_005545	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	315	-			36			Head.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	c.106G>A	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997270	0.35226	.	.	ENSG00000205420	ENST00000330722	T	0.28454	1.61	5.24	-1.38	0.09027	.	0.369472	0.22765	N	0.055911	T	0.19525	0.0469	L	0.53249	1.67	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.12734	-1.0536	10	0.32370	T	0.25	.	0.9045	0.01281	0.2356:0.3727:0.115:0.2767	.	36	P02538	K2C6A_HUMAN	I	36	ENSP00000369317:V36I	ENSP00000369317:V36I	V	-	1	0	KRT6A	51173134	0.000000	0.05858	0.047000	0.18901	0.880000	0.50808	-0.866000	0.04245	-0.143000	0.11334	-0.286000	0.09958	GTC		0.667	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2		NM_005554		6	164	0	0	0	0.001168	0	6	164		
NABP2	79035	broad.mit.edu	37	12	56622879	56622879	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:56622879A>C	ENST00000380198.2	+	6	1016	c.518A>C	c.(517-519)cAc>cCc	p.H173P	SLC39A5_ENST00000454355.2_5'Flank|NABP2_ENST00000341463.5_Missense_Mutation_p.H173P|SLC39A5_ENST00000266980.4_5'Flank|NABP2_ENST00000267023.4_Missense_Mutation_p.H173P			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2	173	Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)	single-stranded DNA binding (GO:0003697)										ACTCCCTCCCACCCACCCAGC	0.612																																						uc001ski.2		NaN																	0				ovary(1)	1						c.(517-519)CAC>CCC	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	oligonucleotide/oligosaccharide-binding fold							23.0	25.0	24.0					12																	56622879		2203	4300	6503	SO:0001583	missense	79035				double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation	SOSS complex	protein binding|single-stranded DNA binding	g.chr12:56622879A>C	BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579			28412	protein-coding gene	gene with protein product	"""single strand DNA-binding protein 1"", ""sensor of single-strand DNA complex subunit B1"""	612104	"""oligonucleotide/oligosaccharide-binding fold containing 2B"""	OBFC2B			Standard	NM_024068		Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	ENST00000380198.2:c.518A>C	12.37:g.56622879A>C	ENSP00000369545:p.His173Pro					OBFC2B_uc001skk.2_Missense_Mutation_p.H198P|OBFC2B_uc001skj.2_Missense_Mutation_p.H189P	p.H173P	NM_024068	NP_076973	Q9BQ15	SOSB1_HUMAN			7	642	+			173			Pro-rich.		A6NDF8|Q6XYC8	Missense_Mutation	SNP	ENST00000380198.2	37	c.518A>C	CCDS8911.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.022733	0.54683	.	.	ENSG00000139579	ENST00000267023;ENST00000380198;ENST00000341463	T;T;T	0.31247	1.5;1.5;1.5	5.17	5.17	0.71159	.	0.087877	0.44688	D	0.000429	T	0.41581	0.1165	L	0.38531	1.155	0.34679	D	0.72447	D	0.57571	0.98	D	0.64321	0.924	T	0.51779	-0.8662	9	.	.	.	-17.338	12.8351	0.57770	1.0:0.0:0.0:0.0	.	173	Q9BQ15	SOSB1_HUMAN	P	173	ENSP00000267023:H173P;ENSP00000369545:H173P;ENSP00000368862:H173P	.	H	+	2	0	OBFC2B	54909146	1.000000	0.71417	0.896000	0.35187	0.331000	0.28603	5.409000	0.66374	2.096000	0.63516	0.533000	0.62120	CAC		0.612	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326610.1		NM_024068		5	22	0	0	0	0.010729	0	5	22		
STAT2	6773	broad.mit.edu	37	12	56745131	56745131	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:56745131C>T	ENST00000314128.4	-	9	909	c.886G>A	c.(886-888)Ggg>Agg	p.G296R	STAT2_ENST00000556539.1_5'Flank|RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000418572.2_Missense_Mutation_p.G292R|STAT2_ENST00000557235.1_Missense_Mutation_p.G292R			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	296					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						AGGTCCACCCCTTTGGTCAGA	0.572																																						uc001slc.2		NaN																	0				ovary(1)|lung(1)|kidney(1)	3						c.(886-888)GGG>AGG		signal transducer and activator of transcription							235.0	209.0	218.0					12																	56745131		2203	4300	6503	SO:0001583	missense	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56745131C>T	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.886G>A	12.37:g.56745131C>T	ENSP00000315768:p.Gly296Arg					STAT2_uc001slb.2_5'Flank|STAT2_uc001sld.2_Missense_Mutation_p.G292R|STAT2_uc010sqn.1_Missense_Mutation_p.G292R	p.G296R	NM_005419	NP_005410	P52630	STAT2_HUMAN			9	964	-			296					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	c.886G>A	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.991456	0.35131	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000418572	T;T;T	0.59502	0.26;0.26;0.26	4.4	3.5	0.40072	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.270540	0.36482	N	0.002567	T	0.64091	0.2567	M	0.72118	2.19	0.09310	N	1	P;B;D	0.64830	0.88;0.128;0.994	P;B;D	0.63488	0.468;0.103;0.915	T	0.54781	-0.8242	10	0.15952	T	0.53	-19.211	4.9963	0.14242	0.2103:0.6837:0.0:0.106	.	292;292;296	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	R	296;292;292	ENSP00000315768:G296R;ENSP00000450751:G292R;ENSP00000387354:G292R	ENSP00000315768:G296R	G	-	1	0	STAT2	55031398	0.001000	0.12720	0.113000	0.21522	0.111000	0.19643	0.680000	0.25306	2.464000	0.83262	0.467000	0.42956	GGG		0.572	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1		NM_005419		27	306	0	0	0	0.003954	0	27	306		
LRP1	4035	broad.mit.edu	37	12	57588794	57588794	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:57588794G>C	ENST00000243077.3	+	51	8684	c.8218G>C	c.(8218-8220)Gag>Cag	p.E2740Q	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2740	LDL-receptor class A 16. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCCCAGTTTGAGTGCCAGAA	0.597																																						uc001snd.2		NaN																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(8218-8220)GAG>CAG		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						92.0	88.0	89.0					12																	57588794		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57588794G>C	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8218G>C	12.37:g.57588794G>C	ENSP00000243077:p.Glu2740Gln						p.E2740Q	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	51	8684	+			2740			Extracellular (Potential).|LDL-receptor class A 16.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.8218G>C	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929994	0.34096	.	.	ENSG00000123384	ENST00000243077	D	0.94931	-3.56	4.93	4.04	0.47022	.	0.000000	0.64402	D	0.000002	D	0.82793	0.5114	N	0.01219	-0.95	0.80722	D	1	B	0.28324	0.207	B	0.33121	0.158	T	0.78628	-0.2130	10	0.12766	T	0.61	.	12.0324	0.53406	0.085:0.0:0.915:0.0	.	2740	Q07954	LRP1_HUMAN	Q	2740	ENSP00000243077:E2740Q	ENSP00000243077:E2740Q	E	+	1	0	LRP1	55875061	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.492000	0.73654	1.287000	0.44583	0.455000	0.32223	GAG		0.597	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2		NM_002332		13	154	0	0	0	0.013537	0	13	154		
SRGAP1	57522	broad.mit.edu	37	12	64485155	64485155	+	Silent	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:64485155C>G	ENST00000355086.3	+	12	2060	c.1536C>G	c.(1534-1536)gtC>gtG	p.V512V	RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Intron|SRGAP1_ENST00000357825.3_Intron	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	512	F-BAR domain.|Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AAACATTCGTCAAGGTACTGG	0.483																																						uc010ssp.1		NaN																	0				ovary(2)|central_nervous_system(2)	4						c.(1534-1536)GTC>GTG		SLIT-ROBO Rho GTPase activating protein 1							78.0	79.0	79.0					12																	64485155		2203	4300	6503	SO:0001819	synonymous_variant	57522				axon guidance	cytosol		g.chr12:64485155C>G	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1536C>G	12.37:g.64485155C>G						SRGAP1_uc001srv.2_Intron	p.V512V	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	12	1592	+			512			Rho-GAP.		Q9H8A3|Q9P2P2	Silent	SNP	ENST00000355086.3	37	c.1536C>G	CCDS8967.1																																																																																				0.483	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1				6	46	0	0	0	0.001984	0	6	46		
PTPRB	5787	broad.mit.edu	37	12	71016176	71016176	+	Silent	SNP	A	A	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:71016176A>G	ENST00000550358.1	-	3	727	c.702T>C	c.(700-702)acT>acC	p.T234T	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Silent_p.T233T|PTPRB_ENST00000334414.6_Silent_p.T234T			P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTACCTCTTCAGTGGTGCTGG	0.507																																						uc001swc.3		NaN																	0				lung(2)|skin(1)	3						c.(700-702)ACT>ACC		protein tyrosine phosphatase, receptor type, B							147.0	152.0	151.0					12																	71016176		2013	4189	6202	SO:0001819	synonymous_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71016176A>G	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000550358.1:c.702T>C	12.37:g.71016176A>G						PTPRB_uc001swa.3_Silent_p.T234T|PTPRB_uc001swd.3_Silent_p.T233T|PTPRB_uc009zrr.1_Silent_p.T113T|PTPRB_uc001swe.2_Silent_p.T234T	p.T234T	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		3	746	-	Renal(347;0.236)		Error:Variant_position_missing_in_P23467_after_alignment					B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000550358.1	37	c.702T>C																																																																																					0.507	PTPRB-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404436.1				8	218	0	0	0	0.006214	0	8	218		
LRRIQ1	84125	broad.mit.edu	37	12	85531742	85531742	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:85531742G>C	ENST00000393217.2	+	19	4385	c.4324G>C	c.(4324-4326)Gat>Cat	p.D1442H		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1442										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTTTATATTTGATGAAGTAAG	0.284																																						uc001tac.2		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4324-4326)GAT>CAT		leucine-rich repeats and IQ motif containing 1							57.0	55.0	55.0					12																	85531742		1786	4054	5840	SO:0001583	missense	84125							g.chr12:85531742G>C	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4324G>C	12.37:g.85531742G>C	ENSP00000376910:p.Asp1442His						p.D1442H	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	19	4435	+			1442					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.4324G>C	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	9.504	1.104012	0.20632	.	.	ENSG00000133640	ENST00000393217	T	0.58652	0.32	5.56	1.71	0.24356	.	.	.	.	.	T	0.36963	0.0986	N	0.19112	0.55	0.29214	N	0.874407	B	0.23735	0.09	B	0.20384	0.029	T	0.34551	-0.9824	9	0.87932	D	0	.	3.0182	0.06066	0.1945:0.2177:0.4759:0.1119	.	1442	Q96JM4	LRIQ1_HUMAN	H	1442	ENSP00000376910:D1442H	ENSP00000376910:D1442H	D	+	1	0	LRRIQ1	84055873	1.000000	0.71417	0.914000	0.36105	0.056000	0.15407	1.076000	0.30729	0.299000	0.22661	-0.143000	0.13931	GAT		0.284	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2		NM_032165		10	46	0	0	0	0.006214	0	10	46		
NTS	4922	broad.mit.edu	37	12	86272159	86272159	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:86272159C>G	ENST00000256010.6	+	3	279	c.172C>G	c.(172-174)Ctg>Gtg	p.L58V	NTS_ENST00000551529.1_Intron	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin	58					regulation of blood vessel size (GO:0050880)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)				large_intestine(2)|lung(6)	8						GAAGATGACTCTGCTAAATGT	0.373																																						uc001tag.2		NaN																	0					0						c.(172-174)CTG>GTG		neurotensin/neuromedin N preproprotein							101.0	110.0	107.0					12																	86272159		2203	4300	6503	SO:0001583	missense	4922				regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity	g.chr12:86272159C>G		CCDS9029.1	12q21.31	2013-02-26			ENSG00000133636	ENSG00000133636		"""Endogenous ligands"""	8038	protein-coding gene	gene with protein product	"""neuromedin N"", ""pro-neurotensin/neuromedin"""	162650					Standard	NM_006183		Approved		uc001tag.3	P30990	OTTHUMG00000169832	ENST00000256010.6:c.172C>G	12.37:g.86272159C>G	ENSP00000256010:p.Leu58Val						p.L58V	NM_006183	NP_006174	P30990	NEUT_HUMAN			3	279	+			58						Missense_Mutation	SNP	ENST00000256010.6	37	c.172C>G	CCDS9029.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183317	0.57800	.	.	ENSG00000133636	ENST00000256010;ENST00000550879	.	.	.	5.29	3.42	0.39159	.	0.000000	0.64402	D	0.000002	T	0.71400	0.3335	M	0.66939	2.045	0.37908	D	0.931285	D	0.76494	0.999	D	0.87578	0.998	T	0.76629	-0.2889	9	0.87932	D	0	-7.7779	11.0766	0.48036	0.0:0.846:0.0:0.154	.	58	P30990	NEUT_HUMAN	V	58;3	.	ENSP00000256010:L58V	L	+	1	2	NTS	84796290	1.000000	0.71417	0.998000	0.56505	0.862000	0.49288	1.601000	0.36773	1.189000	0.43028	0.563000	0.77884	CTG		0.373	NTS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406111.2				11	133	0	0	0	0.010729	0	11	133		
MYL2	4633	broad.mit.edu	37	12	111348888	111348888	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:111348888T>C	ENST00000228841.8	-	7	541	c.494A>G	c.(493-495)aAg>aGg	p.K165R	MYL2_ENST00000548438.1_Missense_Mutation_p.K151R	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	165	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle cell fate specification (GO:0042694)|muscle fiber development (GO:0048747)|muscle filament sliding (GO:0030049)|negative regulation of cell growth (GO:0030308)|post-embryonic development (GO:0009791)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|myofibril (GO:0030016)|myosin complex (GO:0016459)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						CTCCTAGTCCTTCTCTTCTCC	0.602																																					GBM(14;268 426 18829 21617 25540)	uc001try.3		NaN																	0				ovary(1)	1						c.(493-495)AAG>AGG		slow cardiac myosin regulatory light chain 2							138.0	111.0	120.0					12																	111348888		2203	4300	6503	SO:0001583	missense	4633				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle	g.chr12:111348888T>C		CCDS31901.1	12q24.11	2014-09-17	2006-09-29		ENSG00000111245	ENSG00000111245		"""Myosins / Light chain"", ""EF-hand domain containing"""	7583	protein-coding gene	gene with protein product	"""cardiac ventricular myosin light chain 2"""	160781	"""myosin, light polypeptide 2, regulatory, cardiac, slow"""			1386340	Standard	NM_000432		Approved	CMH10	uc001try.4	P10916	OTTHUMG00000169535	ENST00000228841.8:c.494A>G	12.37:g.111348888T>C	ENSP00000228841:p.Lys165Arg					MYL2_uc001trx.3_Missense_Mutation_p.K146R	p.K165R	NM_000432	NP_000423	P10916	MLRV_HUMAN			7	565	-			165			EF-hand 3.		Q16123	Missense_Mutation	SNP	ENST00000228841.8	37	c.494A>G	CCDS31901.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.533628	0.85812	.	.	ENSG00000111245	ENST00000228841;ENST00000548438	T;T	0.80480	-1.05;-1.38	4.95	4.95	0.65309	.	0.045821	0.85682	D	0.000000	D	0.90222	0.6943	M	0.86502	2.82	0.58432	D	0.999997	D	0.59767	0.986	D	0.74023	0.982	D	0.91851	0.5491	10	0.72032	D	0.01	.	13.902	0.63809	0.0:0.0:0.0:1.0	.	165	P10916	MLRV_HUMAN	R	165;151	ENSP00000228841:K165R;ENSP00000447154:K151R	ENSP00000228841:K165R	K	-	2	0	MYL2	109833271	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	7.355000	0.79434	1.977000	0.57605	0.448000	0.29417	AAG		0.602	MYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404677.2		NM_000432		16	119	0	0	0	0.004007	0	16	119		
MYL2	4633	broad.mit.edu	37	12	111348892	111348892	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:111348892C>G	ENST00000228841.8	-	7	537	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	MYL2_ENST00000548438.1_Missense_Mutation_p.E150Q	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	164	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle cell fate specification (GO:0042694)|muscle fiber development (GO:0048747)|muscle filament sliding (GO:0030049)|negative regulation of cell growth (GO:0030308)|post-embryonic development (GO:0009791)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|myofibril (GO:0030016)|myosin complex (GO:0016459)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						TAGTCCTTCTCTTCTCCGTGG	0.607																																					GBM(14;268 426 18829 21617 25540)	uc001try.3		NaN																	0				ovary(1)	1						c.(490-492)GAG>CAG		slow cardiac myosin regulatory light chain 2							143.0	115.0	124.0					12																	111348892		2203	4300	6503	SO:0001583	missense	4633				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle	g.chr12:111348892C>G		CCDS31901.1	12q24.11	2014-09-17	2006-09-29		ENSG00000111245	ENSG00000111245		"""Myosins / Light chain"", ""EF-hand domain containing"""	7583	protein-coding gene	gene with protein product	"""cardiac ventricular myosin light chain 2"""	160781	"""myosin, light polypeptide 2, regulatory, cardiac, slow"""			1386340	Standard	NM_000432		Approved	CMH10	uc001try.4	P10916	OTTHUMG00000169535	ENST00000228841.8:c.490G>C	12.37:g.111348892C>G	ENSP00000228841:p.Glu164Gln					MYL2_uc001trx.3_Missense_Mutation_p.E145Q	p.E164Q	NM_000432	NP_000423	P10916	MLRV_HUMAN			7	561	-			164			EF-hand 3.		Q16123	Missense_Mutation	SNP	ENST00000228841.8	37	c.490G>C	CCDS31901.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634514	0.87660	.	.	ENSG00000111245	ENST00000228841;ENST00000548438	T;T	0.80033	-0.99;-1.33	4.95	4.95	0.65309	.	0.117348	0.64402	D	0.000007	D	0.85647	0.5745	M	0.69185	2.1	0.80722	D	1	D	0.52996	0.957	P	0.54174	0.744	D	0.86669	0.1909	10	0.52906	T	0.07	.	17.3329	0.87271	0.0:1.0:0.0:0.0	.	164	P10916	MLRV_HUMAN	Q	164;150	ENSP00000228841:E164Q;ENSP00000447154:E150Q	ENSP00000228841:E164Q	E	-	1	0	MYL2	109833275	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.154000	0.77437	2.442000	0.82660	0.549000	0.68633	GAG		0.607	MYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404677.2		NM_000432		15	122	0	0	0	0.004007	0	15	122		
PIWIL1	9271	broad.mit.edu	37	12	130846097	130846097	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:130846097C>T	ENST00000245255.3	+	16	2193	c.1921C>T	c.(1921-1923)Cgg>Tgg	p.R641W		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	641	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.|RNA-binding. {ECO:0000250}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GACAGCTGGGCGGAGGTCAAT	0.478																																						uc001uik.2		NaN																	0				ovary(2)	2						c.(1921-1923)CGG>TGG		piwi-like 1							227.0	194.0	205.0					12																	130846097		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130846097C>T	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1921C>T	12.37:g.130846097C>T	ENSP00000245255:p.Arg641Trp					PIWIL1_uc001uij.1_Missense_Mutation_p.R641W	p.R641W	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	16	2011	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		641			RNA-binding (By similarity).|Piwi.		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.1921C>T	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932116	0.73442	.	.	ENSG00000125207	ENST00000245255	T	0.14516	2.5	5.72	4.81	0.61882	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.053133	0.64402	D	0.000001	T	0.35711	0.0941	M	0.74467	2.265	0.43279	D	0.995249	D;D	0.76494	0.999;0.997	D;D	0.70935	0.971;0.913	T	0.14227	-1.0480	10	0.72032	D	0.01	-7.5394	12.448	0.55662	0.4243:0.5757:0.0:0.0	.	641;641	Q96J94;Q96J94-2	PIWL1_HUMAN;.	W	641	ENSP00000245255:R641W	ENSP00000245255:R641W	R	+	1	2	PIWIL1	129412050	0.997000	0.39634	0.968000	0.41197	0.832000	0.47134	3.786000	0.55431	1.379000	0.46325	0.655000	0.94253	CGG		0.478	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1				17	130	0	0	0	0.006122	0	17	130		
MYCBP2	23077	broad.mit.edu	37	13	77672741	77672741	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr13:77672741G>C	ENST00000544440.2	-	56	8451	c.8434C>G	c.(8434-8436)Cta>Gta	p.L2812V	MYCBP2_ENST00000360084.5_Missense_Mutation_p.L335V|MYCBP2_ENST00000407578.2_Missense_Mutation_p.L2850V|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L2812V|MYCBP2-AS1_ENST00000593933.1_RNA					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTTGAGGTAGATTTTTATCA	0.473																																						uc001vkf.2		NaN																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(8434-8436)CTA>GTA		MYC binding protein 2							157.0	154.0	155.0					13																	77672741		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77672741G>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.8434C>G	13.37:g.77672741G>C	ENSP00000444596:p.Leu2812Val					MYCBP2_uc010aev.2_Missense_Mutation_p.L2216V|MYCBP2_uc001vkg.1_Missense_Mutation_p.L335V|MYCBP2_uc010aew.2_Missense_Mutation_p.L198V	p.L2812V	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	57	8525	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2812						Missense_Mutation	SNP	ENST00000544440.2	37	c.8434C>G		.	.	.	.	.	.	.	.	.	.	G	9.921	1.212090	0.22289	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440;ENST00000360084	T;T;T;T	0.56103	1.65;1.65;1.65;0.48	5.45	5.45	0.79879	.	0.231779	0.36972	N	0.002315	T	0.57184	0.2036	L	0.27053	0.805	0.41200	D	0.986369	B;D;B	0.56035	0.047;0.974;0.0	B;D;B	0.70487	0.056;0.969;0.001	T	0.47935	-0.9078	10	0.10111	T	0.7	.	16.3435	0.83110	0.0:0.1318:0.8682:0.0	.	198;2812;2812	Q9UG08;O75592-2;O75592	.;.;MYCB2_HUMAN	V	2812;2850;2812;335	ENSP00000349892:L2812V;ENSP00000384288:L2850V;ENSP00000444596:L2812V;ENSP00000353197:L335V	ENSP00000349892:L2812V	L	-	1	2	MYCBP2	76570742	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.521000	0.60532	2.579000	0.87056	0.591000	0.81541	CTA		0.473	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1		NM_015057		8	116	0	0	0	0.00308	0	8	116		
MBNL2	10150	broad.mit.edu	37	13	97986694	97986694	+	Splice_Site	SNP	G	G	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr13:97986694G>T	ENST00000376673.3	+	3	1120	c.339G>T	c.(337-339)gtG>gtT	p.V113V	MBNL2_ENST00000345429.6_Splice_Site_p.V113V|MBNL2_ENST00000397601.1_Splice_Site_p.V113V|MBNL2_ENST00000445661.2_Splice_Site_p.V113V|MBNL2_ENST00000343600.4_Splice_Site_p.V113V			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	113					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			TTCATCCAGTGGTGAGTACAT	0.433																																						uc010aft.2		NaN																	0					0						c.(337-339)GTG>GTT		muscleblind-like 2 isoform 1							81.0	75.0	77.0					13																	97986694		2203	4300	6503	SO:0001630	splice_region_variant	10150				mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr13:97986694G>T	AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"""Zinc fingers, CCCH-type domain containing"""	16746	protein-coding gene	gene with protein product		607327	"""muscleblind-like 2 (Drosophila)"""			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.339+1G>T	13.37:g.97986694G>T						MBNL2_uc001vmz.2_Silent_p.V113V|MBNL2_uc001vna.2_Silent_p.V113V|MBNL2_uc001vnb.2_RNA|MBNL2_uc010tij.1_Silent_p.V113V	p.V113V	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.218)		3	1155	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		113					Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Silent	SNP	ENST00000376673.3	37	c.339G>T																																																																																					0.433	MBNL2-202	KNOWN	basic	protein_coding	protein_coding			NM_144778	Silent	3	56	1	0	0.004672	0.004672	0.00473152	3	56		
MYO16	23026	broad.mit.edu	37	13	109318494	109318494	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr13:109318494G>C	ENST00000357550.2	+	1	264	c.223G>C	c.(223-225)Gaa>Caa	p.E75Q	MYO16_ENST00000356711.2_Missense_Mutation_p.E75Q|MYO16_ENST00000251041.5_Missense_Mutation_p.E75Q	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CAATGACAAAGAAGGTACATG	0.418																																						uc001vqt.1		NaN																	0				ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(223-225)GAA>CAA		myosin heavy chain Myr 8							39.0	35.0	36.0					13																	109318494		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109318494G>C		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.223G>C	13.37:g.109318494G>C	ENSP00000350160:p.Glu75Gln					MYO16_uc010agk.1_Missense_Mutation_p.E97Q	p.E75Q	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		2	349	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		75			ANK 1.			Missense_Mutation	SNP	ENST00000357550.2	37	c.223G>C	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209933	0.58343	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.63913	-0.07;-0.07;-0.07	5.37	4.49	0.54785	Ankyrin repeat-containing domain (4);	0.000000	0.37136	U	0.002224	T	0.75295	0.3830	M	0.64567	1.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.982;0.99	T	0.75402	-0.3330	9	.	.	.	.	14.124	0.65208	0.0:0.0:0.8487:0.1513	.	75;75	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	Q	75	ENSP00000349145:E75Q;ENSP00000350160:E75Q;ENSP00000251041:E75Q	.	E	+	1	0	MYO16	108116495	1.000000	0.71417	0.997000	0.53966	0.891000	0.51852	6.820000	0.75267	1.184000	0.42957	0.650000	0.86243	GAA		0.418	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1		NM_015011		3	21	0	0	0	0.004672	0	3	21		
OR4L1	122742	broad.mit.edu	37	14	20528361	20528361	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr14:20528361C>T	ENST00000315683.1	+	1	158	c.158C>T	c.(157-159)tCa>tTa	p.S53L		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		ACATGTAGGTCAACCCTTCAT	0.423																																						uc001vwn.1		NaN																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(157-159)TCA>TTA		olfactory receptor, family 4, subfamily L,							180.0	186.0	184.0					14																	20528361		2203	4300	6503	SO:0001583	missense	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528361C>T		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.158C>T	14.37:g.20528361C>T	ENSP00000319217:p.Ser53Leu						p.S53L	NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	158	+	all_cancers(95;0.00108)		53			Cytoplasmic (Potential).		Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	c.158C>T	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	0.277	-0.989196	0.02162	.	.	ENSG00000176246	ENST00000315683	T	0.01092	5.35	3.84	0.52	0.17040	GPCR, rhodopsin-like superfamily (1);	1.213900	0.05832	N	0.617763	T	0.02848	0.0085	M	0.80422	2.495	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.44892	-0.9298	10	0.59425	D	0.04	.	10.5568	0.45123	0.4817:0.5183:0.0:0.0	.	53	Q8NH43	OR4L1_HUMAN	L	53	ENSP00000319217:S53L	ENSP00000319217:S53L	S	+	2	0	OR4L1	19598201	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.531000	0.02219	0.363000	0.24346	0.639000	0.83563	TCA		0.423	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1				4	125	0	0	0	0.006214	0	4	125		
ARHGAP5	394	broad.mit.edu	37	14	32560146	32560146	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr14:32560146C>T	ENST00000345122.3	+	2	586	c.271C>T	c.(271-273)Cat>Tat	p.H91Y	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.H91Y|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.H91Y|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.H91Y|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	91					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATGCAAAATTCATGTCATTGA	0.373																																					NSCLC(9;77 350 3443 29227 41353)	uc001wrl.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(271-273)CAT>TAT		Rho GTPase activating protein 5 isoform b							92.0	92.0	92.0					14																	32560146		2203	4299	6502	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32560146C>T	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.271C>T	14.37:g.32560146C>T	ENSP00000371897:p.His91Tyr					ARHGAP5_uc001wrm.2_Missense_Mutation_p.H91Y|ARHGAP5_uc001wrn.2_Missense_Mutation_p.H91Y|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	p.H91Y	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	510	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		91					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.271C>T	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.546821	0.27652	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921;ENST00000556191	T;T;T;T;T	0.43688	3.01;3.01;3.01;3.01;0.94	5.56	5.56	0.83823	.	0.224693	0.46758	D	0.000276	T	0.56673	0.2001	L	0.46157	1.445	0.37271	D	0.907405	D;D	0.67145	0.996;0.994	D;D	0.69307	0.963;0.919	T	0.63287	-0.6671	10	0.87932	D	0	.	14.3732	0.66854	0.1479:0.8521:0.0:0.0	.	91;91	Q13017-2;Q13017	.;RHG05_HUMAN	Y	91	ENSP00000452222:H91Y;ENSP00000441692:H91Y;ENSP00000371897:H91Y;ENSP00000393307:H91Y;ENSP00000451579:H91Y	ENSP00000371897:H91Y	H	+	1	0	ARHGAP5	31629897	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.747000	0.62141	2.600000	0.87896	0.655000	0.94253	CAT		0.373	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1		NM_001030055		7	89	0	0	0	0.001984	0	7	89		
PAX9	5083	broad.mit.edu	37	14	37145475	37145475	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr14:37145475C>T	ENST00000361487.6	+	4	1069	c.844C>T	c.(844-846)Caa>Taa	p.Q282*	PAX9_ENST00000554201.1_Silent_p.P91P|PAX9_ENST00000402703.2_Nonsense_Mutation_p.Q282*|PAX9_ENST00000557107.1_3'UTR			P55771	PAX9_HUMAN	paired box 9	282					cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		TACCCCAGCCCAAGTGTCGCC	0.532																																						uc001wty.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(844-846)CAA>TAA		paired box 9							164.0	135.0	145.0					14																	37145475		2203	4300	6503	SO:0001587	stop_gained	5083				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr14:37145475C>T	AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"""Paired boxes"""	8623	protein-coding gene	gene with protein product		167416	"""paired box gene 9"""			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.844C>T	14.37:g.37145475C>T	ENSP00000355245:p.Gln282*					PAX9_uc010amq.2_RNA	p.Q282*	NM_006194	NP_006185	P55771	PAX9_HUMAN	Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)	5	1561	+	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		282					Q99582|Q9UQR4	Nonsense_Mutation	SNP	ENST00000361487.6	37	c.844C>T	CCDS9662.1	.	.	.	.	.	.	.	.	.	.	C	42	9.430164	0.99169	.	.	ENSG00000198807	ENST00000402703;ENST00000361487	.	.	.	6.16	6.16	0.99307	.	0.219328	0.48286	D	0.000198	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	282	.	ENSP00000355245:Q282X	Q	+	1	0	PAX9	36215226	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.142000	0.77339	2.937000	0.99478	0.650000	0.86243	CAA		0.532	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2				13	111	0	0	0	0.013537	0	13	111		
DDHD1	80821	broad.mit.edu	37	14	53513571	53513571	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr14:53513571G>A	ENST00000323669.5	-	13	2617	c.2618C>T	c.(2617-2619)tCc>tTc	p.S873F	DDHD1_ENST00000395606.1_Missense_Mutation_p.S852F|DDHD1_ENST00000555621.1_5'Flank|DDHD1_ENST00000357758.3_Missense_Mutation_p.S845F	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	873	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					AACATCCAAGGATGACCAATA	0.433																																						uc001xai.2		NaN																	0				ovary(2)	2						c.(2617-2619)TCC>TTC		DDHD domain containing 1 isoform c							153.0	131.0	139.0					14																	53513571		2203	4300	6503	SO:0001583	missense	80821				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53513571G>A	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.2618C>T	14.37:g.53513571G>A	ENSP00000327104:p.Ser873Phe					DDHD1_uc001xaj.2_Missense_Mutation_p.S852F|DDHD1_uc001xah.2_Missense_Mutation_p.S845F|DDHD1_uc001xag.2_Missense_Mutation_p.S427F	p.S873F	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN			13	2848	-	Breast(41;0.037)		873			DDHD.		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.2618C>T	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657067	0.88154	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	5.92	5.92	0.95590	DDHD (2);	0.093988	0.85682	D	0.000000	T	0.79058	0.4382	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.991;0.999;0.988	T	0.79157	-0.1919	9	0.87932	D	0	-12.8501	20.3206	0.98668	0.0:0.0:1.0:0.0	.	852;873;845	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	F	873;852;845;744	.	ENSP00000327104:S873F	S	-	2	0	DDHD1	52583321	1.000000	0.71417	0.997000	0.53966	0.822000	0.46500	9.605000	0.98321	2.813000	0.96785	0.561000	0.74099	TCC		0.433	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1				11	65	0	0	0	0.010729	0	11	65		
DACT1	51339	broad.mit.edu	37	14	59113460	59113460	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr14:59113460G>A	ENST00000335867.4	+	4	2143	c.2119G>A	c.(2119-2121)Gcg>Acg	p.A707T	DACT1_ENST00000541264.2_Missense_Mutation_p.A426T|DACT1_ENST00000395153.3_Missense_Mutation_p.A670T|DACT1_ENST00000556859.1_Missense_Mutation_p.A426T			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	707					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GCTGTACCCCGCGCCTGTGCC	0.672																																						uc001xdw.2		NaN																	0				large_intestine(2)|lung(2)|ovary(1)	5						c.(2119-2121)GCG>ACG		dapper 1 isoform 1							27.0	31.0	30.0					14																	59113460		2201	4299	6500	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59113460G>A	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.2119G>A	14.37:g.59113460G>A	ENSP00000337439:p.Ala707Thr					DACT1_uc010trv.1_Missense_Mutation_p.A426T|DACT1_uc001xdx.2_Missense_Mutation_p.A670T|DACT1_uc010trw.1_Missense_Mutation_p.A426T	p.A707T	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN			4	2283	+			707					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.2119G>A	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	G	1.826	-0.470977	0.04445	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.63	0.392	0.16288	.	0.637842	0.14878	N	0.293151	T	0.34716	0.0907	M	0.65498	2.005	0.09310	N	1	B;B	0.18968	0.032;0.004	B;B	0.12837	0.008;0.003	T	0.25152	-1.0140	10	0.27082	T	0.32	-4.5278	5.8338	0.18594	0.1842:0.0:0.4938:0.322	.	670;707	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	T	426;426;670;707;426	ENSP00000451598:A426T;ENSP00000378581:A426T;ENSP00000378582:A670T;ENSP00000337439:A707T;ENSP00000442850:A426T	ENSP00000337439:A707T	A	+	1	0	DACT1	58183213	0.008000	0.16893	0.002000	0.10522	0.028000	0.11728	1.781000	0.38644	0.032000	0.15435	-0.251000	0.11542	GCG		0.672	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1		NM_016651		8	79	0	0	0	0.00308	0	8	79		
SPTB	6710	broad.mit.edu	37	14	65246625	65246625	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr14:65246625G>C	ENST00000389721.5	-	20	4323	c.4291C>G	c.(4291-4293)Cga>Gga	p.R1431G	SPTB_ENST00000556626.1_Missense_Mutation_p.R1431G|SPTB_ENST00000542895.1_Missense_Mutation_p.R1431G|SPTB_ENST00000389722.3_Missense_Mutation_p.R1431G|SPTB_ENST00000389720.3_Missense_Mutation_p.R1431G	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1431					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCCTCTTTTCGCACATTCACT	0.572																																						uc001xht.2		NaN																	0				ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(4291-4293)CGA>GGA		spectrin beta isoform b							108.0	104.0	106.0					14																	65246625		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65246625G>C		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4291C>G	14.37:g.65246625G>C	ENSP00000374371:p.Arg1431Gly					SPTB_uc001xhr.2_Missense_Mutation_p.R1431G|SPTB_uc001xhs.2_Missense_Mutation_p.R1431G|SPTB_uc001xhu.2_Missense_Mutation_p.R1431G|SPTB_uc010aqi.2_Missense_Mutation_p.R92G	p.R1431G	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	20	4345	-		all_lung(585;4.15e-09)	1431			Spectrin 11.		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.4291C>G	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.900898	0.52227	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.52057	0.68;1.25;0.68;1.25;1.25;0.68	5.42	3.33	0.38152	.	0.000000	0.85682	D	0.000000	T	0.62454	0.2429	M	0.79475	2.455	0.52501	D	0.999959	P;B;P	0.52463	0.912;0.442;0.953	P;P;P	0.55087	0.768;0.462;0.759	T	0.70245	-0.4925	10	0.87932	D	0	.	14.0875	0.64968	0.0:0.0:0.6725:0.3275	.	215;1431;1435	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	G	1435;1431;215;96;1431;1431;1431;1431	ENSP00000374372:R1431G;ENSP00000451324:R96G;ENSP00000451752:R1431G;ENSP00000374371:R1431G;ENSP00000443882:R1431G;ENSP00000374370:R1431G	ENSP00000334218:R215G	R	-	1	2	SPTB	64316378	0.936000	0.31750	1.000000	0.80357	0.988000	0.76386	1.716000	0.37981	1.245000	0.43885	0.561000	0.74099	CGA		0.572	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1				10	125	0	0	0	0.008291	0	10	125		
PTPN21	11099	broad.mit.edu	37	14	88934487	88934487	+	Silent	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr14:88934487G>C	ENST00000556564.1	-	19	3803	c.3519C>G	c.(3517-3519)ctC>ctG	p.L1173L	PTPN21_ENST00000328736.3_Silent_p.L1173L	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	1173					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAGCTTAGATGAGCCTGGAGC	0.468																																						uc001xwv.3		NaN																	0				ovary(3)|skin(1)	4						c.(3517-3519)CTC>CTG		protein tyrosine phosphatase, non-receptor type							180.0	191.0	187.0					14																	88934487		2203	4300	6503	SO:0001819	synonymous_variant	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88934487G>C	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.3519C>G	14.37:g.88934487G>C						PTPN21_uc010twc.1_Silent_p.L969L	p.L1173L	NM_007039	NP_008970	Q16825	PTN21_HUMAN			19	3850	-			1173						Silent	SNP	ENST00000556564.1	37	c.3519C>G	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.713428	0.30413	.	.	ENSG00000070778	ENST00000553531	.	.	.	6.05	4.03	0.46877	.	.	.	.	.	T	0.46870	0.1415	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44967	-0.9293	4	.	.	.	.	3.0052	0.06026	0.2912:0.2368:0.472:0.0	.	.	.	.	D	111	.	.	H	-	1	0	PTPN21	88004240	0.999000	0.42202	1.000000	0.80357	0.941000	0.58515	0.657000	0.24963	1.585000	0.49928	0.655000	0.94253	CAT		0.468	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1				39	247	0	0	0	0.005524	0	39	247		
TYRO3	7301	broad.mit.edu	37	15	41870164	41870164	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr15:41870164A>G	ENST00000263798.3	+	19	2587	c.2363A>G	c.(2362-2364)aAc>aGc	p.N788S	TYRO3_ENST00000559066.1_Missense_Mutation_p.N743S	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	788	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GAACTGGAGAACATCTTGGGC	0.572																																						uc001zof.1		NaN																	0				ovary(3)|lung(2)|central_nervous_system(1)	6						c.(2362-2364)AAC>AGC		TYRO3 protein tyrosine kinase precursor							48.0	55.0	53.0					15																	41870164		2203	4300	6503	SO:0001583	missense	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41870164A>G	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.2363A>G	15.37:g.41870164A>G	ENSP00000263798:p.Asn788Ser						p.N788S	NM_006293	NP_006284	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	19	2587	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	788			Protein kinase.|Cytoplasmic (Potential).		O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	c.2363A>G	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	A	2.409	-0.335795	0.05278	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.61510	0.1	5.95	-9.94	0.00449	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.224380	0.05996	N	0.646872	T	0.32376	0.0827	N	0.17674	0.51	0.09310	N	1	B	0.15719	0.014	B	0.13407	0.009	T	0.11012	-1.0605	10	0.16896	T	0.51	0.1854	7.6966	0.28598	0.1451:0.5659:0.1863:0.1027	.	788	Q06418	TYRO3_HUMAN	S	720;788	ENSP00000263798:N788S	ENSP00000263798:N788S	N	+	2	0	TYRO3	39657456	0.018000	0.18449	0.203000	0.23512	0.340000	0.28889	-0.321000	0.08018	-2.233000	0.00716	-1.170000	0.01741	AAC		0.572	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2				4	109	0	0	0	0.009096	0	4	109		
MYO9A	4649	broad.mit.edu	37	15	72172115	72172115	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr15:72172115C>G	ENST00000356056.5	-	30	6158	c.5686G>C	c.(5686-5688)Gcc>Ccc	p.A1896P	MYO9A_ENST00000424560.1_Missense_Mutation_p.A1967P|MYO9A_ENST00000444904.1_Missense_Mutation_p.A1877P|MYO9A_ENST00000564571.1_Missense_Mutation_p.A1896P	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1896	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCCTTCAGGGCTTTTTTAAAT	0.373																																						uc002atl.3		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(5686-5688)GCC>CCC		myosin IXA							110.0	106.0	107.0					15																	72172115		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72172115C>G	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.5686G>C	15.37:g.72172115C>G	ENSP00000348349:p.Ala1896Pro					MYO9A_uc002atk.2_Missense_Mutation_p.A691P|MYO9A_uc002atm.1_Missense_Mutation_p.A692P	p.A1896P	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			30	6159	-			1896			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.5686G>C	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889141	0.72524	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.92099	-2.91;-2.97;-2.91	4.73	4.73	0.59995	.	.	.	.	.	D	0.93625	0.7964	M	0.61703	1.905	0.80722	D	1	P;B	0.51351	0.944;0.284	P;B	0.52066	0.689;0.059	D	0.94540	0.7744	9	0.87932	D	0	.	18.0497	0.89344	0.0:1.0:0.0:0.0	.	1967;1896	B2RTY4-4;B2RTY4	.;MYO9A_HUMAN	P	1896;1967;1877	ENSP00000348349:A1896P;ENSP00000399162:A1967P;ENSP00000398250:A1877P	ENSP00000348349:A1896P	A	-	1	0	MYO9A	69959169	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.372000	0.79612	2.349000	0.79799	0.650000	0.86243	GCC		0.373	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1		NM_006901		8	58	0	0	0	0.00308	0	8	58		
CHRNB4	1143	broad.mit.edu	37	15	78922181	78922181	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr15:78922181C>G	ENST00000261751.3	-	5	577	c.466G>C	c.(466-468)Gag>Cag	p.E156Q	CHRNB4_ENST00000560511.1_5'Flank|RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	156					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	TACTTCACCTCAATCTTGCAG	0.567																																						uc002bed.1		NaN																	0					0						c.(466-468)GAG>CAG		cholinergic receptor, nicotinic, beta 4							59.0	56.0	57.0					15																	78922181		2196	4293	6489	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78922181C>G	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.466G>C	15.37:g.78922181C>G	ENSP00000261751:p.Glu156Gln					CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_5'UTR	p.E156Q	NM_000750	NP_000741	P30926	ACHB4_HUMAN			5	578	-			156			Extracellular (Potential).		A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.466G>C	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754957	0.89843	.	.	ENSG00000117971	ENST00000261751	T	0.78003	-1.14	4.97	4.97	0.65823	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.85057	0.5610	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.86820	0.2004	10	0.87932	D	0	.	18.2167	0.89887	0.0:1.0:0.0:0.0	.	156	P30926	ACHB4_HUMAN	Q	156	ENSP00000261751:E156Q	ENSP00000261751:E156Q	E	-	1	0	CHRNB4	76709236	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	6.019000	0.70818	2.301000	0.77427	0.655000	0.94253	GAG		0.567	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1				11	74	0	0	0	0.008291	0	11	74		
MSLN	10232	broad.mit.edu	37	16	816647	816647	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr16:816647C>G	ENST00000382862.3	+	13	1329	c.1234C>G	c.(1234-1236)Cct>Gct	p.P412A	MSLN_ENST00000566549.1_Intron|MSLN_ENST00000563941.1_Intron|MSLN_ENST00000545450.2_Intron	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	412					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CCACAAGGCTCCTCGGCGGCC	0.632																																						uc002cjw.1		NaN																	0				pancreas(1)	1						c.(1234-1236)CCT>GCT		mesothelin isoform 2 preproprotein							52.0	57.0	55.0					16																	816647		2186	4283	6469	SO:0001583	missense	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:816647C>G	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.1234C>G	16.37:g.816647C>G	ENSP00000372313:p.Pro412Ala					MSLN_uc002cjt.1_Intron|MSLN_uc002cju.1_Intron|MSLN_uc010brd.1_Intron|MSLN_uc002cjv.1_Intron|MSLN_uc002cjx.1_Intron|MSLN_uc002cjy.1_Intron	p.P412A	NM_013404	NP_037536	Q13421	MSLN_HUMAN			13	1285	+		Hepatocellular(780;0.00335)	412					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	c.1234C>G	CCDS32356.1	.	.	.	.	.	.	.	.	.	.	C	0.099	-1.154565	0.01700	.	.	ENSG00000102854	ENST00000446427;ENST00000382862	T	0.10860	2.83	3.12	0.418	0.16429	.	.	.	.	.	T	0.04952	0.0133	N	0.08118	0	0.09310	N	1	P	0.43169	0.8	B	0.43575	0.424	T	0.30001	-0.9993	9	0.11182	T	0.66	.	4.7749	0.13175	0.0:0.5405:0.0:0.4595	.	412	Q13421	MSLN_HUMAN	A	412	ENSP00000372313:P412A	ENSP00000372313:P412A	P	+	1	0	MSLN	756648	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.843000	0.04350	0.110000	0.17919	0.313000	0.20887	CCT		0.632	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2				16	104	0	0	0	0.003163	0	16	104		
DOC2A	8448	broad.mit.edu	37	16	30021406	30021406	+	Silent	SNP	G	G	A	rs376120114		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr16:30021406G>A	ENST00000350119.4	-	2	328	c.138C>T	c.(136-138)ggC>ggT	p.G46G	DOC2A_ENST00000567824.1_5'Flank|DOC2A_ENST00000564979.1_Silent_p.G46G|DOC2A_ENST00000564944.1_Silent_p.G46G	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	46	Interaction with UNC13D and DYNLT1.				nervous system development (GO:0007399)|regulation of calcium ion-dependent exocytosis (GO:0017158)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|lysosome (GO:0005764)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						cgccgcccccgccgcccccTT	0.731													G|||	1	0.000199681	0.0008	0.0	5008	,	,		12454	0.0		0.0	False		,,,				2504	0.0					uc002dvm.2		NaN																	0				ovary(2)	2						c.(136-138)GGC>GGT		double C2-like domains, alpha		G		1,4155		0,1,2077	14.0	17.0	16.0		138	-5.3	0.0	16		16	1,8375		0,1,4187	no	coding-synonymous	DOC2A	NM_003586.2		0,2,6264	AA,AG,GG		0.0119,0.0241,0.016		46/401	30021406	2,12530	2078	4188	6266	SO:0001819	synonymous_variant	8448				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity	g.chr16:30021406G>A	D31897	CCDS10666.1	16p11.2	2014-07-02			ENSG00000149927	ENSG00000149927		"""Synaptotagmins"""	2985	protein-coding gene	gene with protein product		604567				7826360, 9736751	Standard	NM_003586		Approved		uc002dvn.3	Q14183	OTTHUMG00000132109	ENST00000350119.4:c.138C>T	16.37:g.30021406G>A						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|DOC2A_uc002dvl.2_Silent_p.G46G|DOC2A_uc002dvn.2_Silent_p.G46G|DOC2A_uc010vef.1_Intron|DOC2A_uc002dvo.2_Silent_p.G46G|DOC2A_uc002dvp.2_Silent_p.G46G|DOC2A_uc002dvq.2_Silent_p.G46G	p.G46G	NM_003586	NP_003577	Q14183	DOC2A_HUMAN			2	238	-			46			Interaction with UNC13D and DYNLT1.		B4DEJ2|H3BNH6|Q6P4G4|Q7Z5G0|Q8IVX0	Silent	SNP	ENST00000350119.4	37	c.138C>T	CCDS10666.1																																																																																				0.731	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255148.2		NM_003586		8	60	0	0	0	0.010729	0	8	60		
ADCY7	113	broad.mit.edu	37	16	50339459	50339459	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr16:50339459C>T	ENST00000394697.2	+	13	1981	c.1641C>T	c.(1639-1641)gaC>gaT	p.D547D	ADCY7_ENST00000566433.2_Silent_p.D547D|ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000538642.1_Silent_p.D547D|ADCY7_ENST00000254235.3_Silent_p.D547D			P51828	ADCY7_HUMAN	adenylate cyclase 7	547					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.D547D(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		CGTACGATGACGAGATGCTGT	0.597																																						uc002egd.1		NaN																	1	Substitution - coding silent(1)		endometrium(1)	skin(1)	1						c.(1639-1641)GAC>GAT		adenylate cyclase 7	Bromocriptine(DB01200)						180.0	164.0	169.0					16																	50339459		2198	4300	6498	SO:0001819	synonymous_variant	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50339459C>T	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1641C>T	16.37:g.50339459C>T						ADCY7_uc002egc.1_Silent_p.D547D	p.D547D	NM_001114	NP_001105	P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	12	1909	+		all_cancers(37;0.0127)	547			Cytoplasmic (Potential).		A0AVA6	Silent	SNP	ENST00000394697.2	37	c.1641C>T	CCDS10741.1																																																																																				0.597	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3				18	179	0	0	0	0.008871	0	18	179		
CHD9	80205	broad.mit.edu	37	16	53341818	53341818	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr16:53341818G>A	ENST00000398510.3	+	32	7093	c.7006G>A	c.(7006-7008)Gtg>Atg	p.V2336M	CHD9_ENST00000564845.1_Splice_Site|CHD9_ENST00000566029.1_Splice_Site|CHD9_ENST00000447540.1_Splice_Site			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2336	Binds A/T-rich DNA.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GATGTCAAAGGTGAAGAAGCA	0.473																																						uc002ehb.2		NaN																	0				lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(7006-7008)GTG>ATG		chromodomain helicase DNA binding protein 9							35.0	35.0	35.0					16																	53341818		1956	4173	6129	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53341818G>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.7006G>A	16.37:g.53341818G>A	ENSP00000381522:p.Val2336Met					CHD9_uc002egy.2_Splice_Site_p.K2335_splice|CHD9_uc002ehc.2_Splice_Site_p.K2336_splice|CHD9_uc002ehf.2_Splice_Site_p.K1449_splice|CHD9_uc010cbw.2_Missense_Mutation_p.V402M|CHD9_uc002ehg.1_Missense_Mutation_p.V343M	p.V2336M	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			32	7170	+		all_cancers(37;0.0212)	2336			Binds A/T-rich DNA.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.7006G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.807326|4.807326	0.90623|0.90623	.|.	.|.	ENSG00000177200|ENSG00000177200	ENST00000447540;ENST00000398510|ENST00000450543	.|.	.|.	.|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.000000	.|0.49305	.|D	.|0.000151	.|D	.|0.82811	.|0.5118	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.71674	.|0.998;0.998;0.998	.|D;D;D	.|0.81914	.|0.995;0.995;0.991	.|T	.|0.82043	.|-0.0653	.|7	.|.	.|.	.|.	.|-9.9272	19.9399|19.9399	0.97155|0.97155	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|402;2336;2336	.|C9JR69;B7ZML1;Q3L8U1	.|.;.;CHD9_HUMAN	.|M	-1|402	.|.	.|.	.|V	+|+	.|1	.|0	CHD9|CHD9	51899319|51899319	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.326000|9.326000	0.96389|0.96389	2.792000|2.792000	0.96026|0.96026	0.557000|0.557000	0.71058|0.71058	.|GTG		0.473	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1		NM_025134		4	38	0	0	0	0.000602	0	4	38		
NAE1	8883	broad.mit.edu	37	16	66860670	66860670	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr16:66860670G>A	ENST00000290810.3	-	2	164	c.67C>T	c.(67-69)Cat>Tat	p.H23Y	NAE1_ENST00000394074.2_Intron|NAE1_ENST00000379463.2_Missense_Mutation_p.H17Y|NAE1_ENST00000359087.4_Missense_Mutation_p.H23Y|NAE1_ENST00000564040.2_5'UTR			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	23					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TCTTGCCCATGATCACCCCAC	0.358																																						uc002eqf.2		NaN																	0				ovary(1)	1						c.(67-69)CAT>TAT		NEDD8 activating enzyme E1 subunit 1 isoform a	Adenosine triphosphate(DB00171)						87.0	89.0	88.0					16																	66860670		2200	4300	6500	SO:0001583	missense	8883				apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity	g.chr16:66860670G>A	U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"""Ubiquitin-like modifier activating enzymes"""	621	protein-coding gene	gene with protein product		603385	"""amyloid beta precursor protein binding protein 1, 59kDa"""	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.67C>T	16.37:g.66860670G>A	ENSP00000290810:p.His23Tyr					NAE1_uc002eqe.2_Missense_Mutation_p.H17Y|NAE1_uc002eqg.2_Intron|NAE1_uc010cdv.2_Missense_Mutation_p.H23Y|NAE1_uc010cdw.1_Intron	p.H23Y	NM_003905	NP_003896	Q13564	ULA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	2	144	-		Ovarian(137;0.0563)	23					A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Missense_Mutation	SNP	ENST00000290810.3	37	c.67C>T	CCDS10820.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554387	0.86231	.	.	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463	T;T;T	0.42513	0.97;0.97;0.97	5.35	5.35	0.76521	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.69753	0.3146	M	0.85373	2.75	0.80722	D	1	D;D;D	0.89917	0.985;0.998;1.0	B;P;D	0.72982	0.366;0.641;0.979	T	0.73827	-0.3860	10	0.62326	D	0.03	-8.8835	19.4352	0.94788	0.0:0.0:1.0:0.0	.	23;23;17	A6NCK0;Q13564;A6NFN4	.;ULA1_HUMAN;.	Y	23;23;17	ENSP00000351990:H23Y;ENSP00000290810:H23Y;ENSP00000368776:H17Y	ENSP00000290810:H23Y	H	-	1	0	NAE1	65418171	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.863000	0.92288	2.665000	0.90641	0.591000	0.81541	CAT		0.358	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1		NM_003905		10	84	0	0	0	0.006214	0	10	84		
KIAA0895L	653319	broad.mit.edu	37	16	67213339	67213339	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr16:67213339C>A	ENST00000290881.7	-	5	1767	c.841G>T	c.(841-843)Gag>Tag	p.E281*	KIAA0895L_ENST00000563902.1_Nonsense_Mutation_p.E281*|KIAA0895L_ENST00000561621.1_Nonsense_Mutation_p.E281*|KIAA0895L_ENST00000563831.2_Intron			Q68EN5	K895L_HUMAN	KIAA0895-like	281										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						TGACCTATCTCATGCCGCAGC	0.622																																						uc002ert.2		NaN																	0					0						c.(841-843)GAG>TAG		hypothetical protein LOC653319							81.0	85.0	84.0					16																	67213339		1982	4159	6141	SO:0001587	stop_gained	653319							g.chr16:67213339C>A	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.841G>T	16.37:g.67213339C>A	ENSP00000290881:p.Glu281*					KIAA0895L_uc002err.2_5'Flank|KIAA0895L_uc002ers.2_5'UTR|KIAA0895L_uc002eru.2_Nonsense_Mutation_p.E281*|EXOC3L_uc002erv.1_RNA	p.E281*	NM_001040715	NP_001035805	Q68EN5	K895L_HUMAN			4	1616	-			281					A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Nonsense_Mutation	SNP	ENST00000290881.7	37	c.841G>T	CCDS42177.1	.	.	.	.	.	.	.	.	.	.	C	44	10.940534	0.99492	.	.	ENSG00000196123	ENST00000290881	.	.	.	4.2	4.2	0.49525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.2607	14.0679	0.64841	0.0:1.0:0.0:0.0	.	.	.	.	X	281	.	ENSP00000290881:E281X	E	-	1	0	KIAA0895L	65770840	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	7.269000	0.78482	2.154000	0.67381	0.305000	0.20034	GAG		0.622	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4		NM_001040715		13	121	1	0	3.52763e-06	0.00499	3.71453e-06	13	121		
KIAA0895L	653319	broad.mit.edu	37	16	67213361	67213361	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr16:67213361C>G	ENST00000290881.7	-	5	1745	c.819G>C	c.(817-819)tgG>tgC	p.W273C	KIAA0895L_ENST00000563902.1_Missense_Mutation_p.W273C|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.W273C|KIAA0895L_ENST00000563831.2_Intron			Q68EN5	K895L_HUMAN	KIAA0895-like	273										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						TGCCCTCCAACCAGTACTGGC	0.627																																						uc002ert.2		NaN																	0					0						c.(817-819)TGG>TGC		hypothetical protein LOC653319							72.0	78.0	76.0					16																	67213361		2016	4168	6184	SO:0001583	missense	653319							g.chr16:67213361C>G	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.819G>C	16.37:g.67213361C>G	ENSP00000290881:p.Trp273Cys					KIAA0895L_uc002err.2_5'Flank|KIAA0895L_uc002ers.2_5'UTR|KIAA0895L_uc002eru.2_Missense_Mutation_p.W273C|EXOC3L_uc002erv.1_RNA	p.W273C	NM_001040715	NP_001035805	Q68EN5	K895L_HUMAN			4	1594	-			273					A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Missense_Mutation	SNP	ENST00000290881.7	37	c.819G>C	CCDS42177.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.264895	0.80358	.	.	ENSG00000196123	ENST00000290881	.	.	.	4.2	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.79082	0.4386	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82678	-0.0338	9	0.87932	D	0	-14.6202	14.0679	0.64841	0.0:1.0:0.0:0.0	.	273;273	Q68EN5-2;Q68EN5	.;K895L_HUMAN	C	273	.	ENSP00000290881:W273C	W	-	3	0	KIAA0895L	65770862	1.000000	0.71417	0.998000	0.56505	0.910000	0.53928	7.269000	0.78482	2.154000	0.67381	0.305000	0.20034	TGG		0.627	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4		NM_001040715		11	105	0	0	0	0.006122	0	11	105		
EXOC3L1	283849	broad.mit.edu	37	16	67221161	67221161	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr16:67221161G>T	ENST00000314586.6	-	5	1247	c.1007C>A	c.(1006-1008)gCc>gAc	p.A336D	EXOC3L1_ENST00000562887.1_Intron	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	336	Mediates interaction with EXOC2, EXOC4 and EXOC5. {ECO:0000250}.				exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GTGCAGCAAGGCGAAGGCATC	0.627																																						uc002erx.1		NaN																	0					0						c.(1006-1008)GCC>GAC		exocyst complex component 3-like							41.0	37.0	39.0					16																	67221161		2198	4300	6498	SO:0001583	missense	283849				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		g.chr16:67221161G>T	AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"""exocyst complex component 3-like"""	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.1007C>A	16.37:g.67221161G>T	ENSP00000325674:p.Ala336Asp					EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Intron|EXOC3L_uc002ery.1_Missense_Mutation_p.A280D|EXOC3L_uc010vje.1_Missense_Mutation_p.A275D	p.A336D	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)	5	1248	-		Ovarian(137;0.0563)	336			Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).		A8K7I9|Q8NAD2|Q8TEN2	Missense_Mutation	SNP	ENST00000314586.6	37	c.1007C>A	CCDS10832.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944978	0.34283	.	.	ENSG00000179044	ENST00000314586;ENST00000545725;ENST00000314553	T;T	0.19806	3.11;2.12	5.44	5.44	0.79542	.	0.688796	0.14773	N	0.299287	T	0.19805	0.0476	L	0.40543	1.245	0.31037	N	0.716717	P;P;B	0.35272	0.493;0.473;0.326	B;B;B	0.34991	0.146;0.193;0.139	T	0.07558	-1.0766	10	0.33940	T	0.23	-2.9961	13.5744	0.61866	0.0:0.156:0.844:0.0	.	275;275;336	F5H4W1;B7Z6U0;Q86VI1	.;.;EX3L1_HUMAN	D	336;275;280	ENSP00000325674:A336D;ENSP00000439910:A275D	ENSP00000325008:A280D	A	-	2	0	EXOC3L1	65778662	0.033000	0.19621	0.997000	0.53966	0.221000	0.24807	1.436000	0.34980	2.567000	0.86603	0.455000	0.32223	GCC		0.627	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2		NM_178516		10	67	1	0	2.17888e-05	0.006214	2.27922e-05	10	67		
DPEP3	64180	broad.mit.edu	37	16	68009821	68009821	+	Silent	SNP	G	G	A	rs371421204		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr16:68009821G>A	ENST00000268793.4	-	10	1762	c.1389C>T	c.(1387-1389)ctC>ctT	p.L463L	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	438					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		TCTGAGGCACGAGGTGGGAGT	0.602																																						uc002evc.3		NaN																	0				breast(3)	3						c.(1387-1389)CTC>CTT		dipeptidase 3 isoform a		G	,	1,4395	2.1+/-5.4	0,1,2197	74.0	80.0	78.0		1386,1389	1.0	0.1	16		78	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DPEP3	NM_001129758.1,NM_022357.3	,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	,	462/513,463/514	68009821	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	64180				meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68009821G>A	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.1389C>T	16.37:g.68009821G>A						DPEP3_uc010cex.2_Silent_p.L462L	p.L463L	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)	10	1483	-		Ovarian(137;0.192)	438					B3KQ48|Q6PEZ5|Q6UXE4	Silent	SNP	ENST00000268793.4	37	c.1389C>T	CCDS10856.1																																																																																				0.602	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3		NM_022357		7	55	0	0	0	0.00308	0	7	55		
FUK	197258	broad.mit.edu	37	16	70513198	70513198	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr16:70513198C>T	ENST00000288078.6	+	23	3277	c.3045C>T	c.(3043-3045)caC>caT	p.H1015H	FUK_ENST00000571514.1_Silent_p.H506H|FUK_ENST00000378912.2_Silent_p.H1021H	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	1015						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				TGGCCCCCCACGTGCATGGCC	0.632																																						uc002eyy.2		NaN																	0				ovary(1)	1						c.(3043-3045)CAC>CAT		fucokinase							40.0	44.0	43.0					16																	70513198		2030	4195	6225	SO:0001819	synonymous_variant	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70513198C>T		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.3045C>T	16.37:g.70513198C>T						FUK_uc010cft.2_Silent_p.H1021H|FUK_uc002eyz.2_Silent_p.H506H	p.H1015H	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN			23	3103	+		Ovarian(137;0.0694)	1015					Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	ENST00000288078.6	37	c.3045C>T	CCDS10891.2																																																																																				0.632	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2		NM_145059		4	75	0	0	0	0.000602	0	4	75		
MTHFSD	64779	broad.mit.edu	37	16	86565621	86565621	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr16:86565621T>C	ENST00000360900.6	-	8	1173	c.1148A>G	c.(1147-1149)aAg>aGg	p.K383R	MTHFSD_ENST00000543303.2_Missense_Mutation_p.K382R|MTHFSD_ENST00000546093.1_Missense_Mutation_p.K220R|MTHFSD_ENST00000322911.6_Missense_Mutation_p.K382R|MTHFSD_ENST00000381214.5_Missense_Mutation_p.K383R	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	383							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						ACGAGGTCACTTGTCCCTCTG	0.701																																						uc002fjn.2		NaN																	0					0						c.(1147-1149)AAG>AGG		methenyltetrahydrofolate synthetase domain							6.0	7.0	6.0					16																	86565621		1923	3915	5838	SO:0001583	missense	64779				folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding	g.chr16:86565621T>C	AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"""RNA binding motif (RRM) containing"""	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.1148A>G	16.37:g.86565621T>C	ENSP00000354152:p.Lys383Arg					MTHFSD_uc010voo.1_Missense_Mutation_p.K363R|MTHFSD_uc002fjo.2_Missense_Mutation_p.K220R|MTHFSD_uc002fjm.2_Missense_Mutation_p.K382R|MTHFSD_uc010vop.1_Missense_Mutation_p.K220R|MTHFSD_uc010voq.1_Missense_Mutation_p.K382R|MTHFSD_uc010vor.1_Missense_Mutation_p.K383R	p.K383R	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN			8	1199	-			383					A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Missense_Mutation	SNP	ENST00000360900.6	37	c.1148A>G	CCDS54047.1	.	.	.	.	.	.	.	.	.	.	T	10.37	1.331609	0.24167	.	.	ENSG00000103248	ENST00000543303;ENST00000381214;ENST00000360900;ENST00000322911;ENST00000546093	T;T;T;T	0.20463	2.34;2.34;2.35;2.07	3.53	-0.655	0.11439	.	0.765199	0.11708	N	0.537170	T	0.11153	0.0272	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.23540	0.053;0.053;0.053;0.087	B;B;B;B	0.23018	0.019;0.019;0.019;0.043	T	0.29971	-0.9994	10	0.87932	D	0	-11.466	1.4397	0.02351	0.1691:0.1115:0.1749:0.5446	.	383;382;383;382	E9PAM1;B7ZLC0;Q2M296;Q2M296-2	.;.;MTHSD_HUMAN;.	R	381;383;383;382;220	ENSP00000370612:K383R;ENSP00000354152:K383R;ENSP00000326777:K382R;ENSP00000438761:K220R	ENSP00000326777:K382R	K	-	2	0	MTHFSD	85123122	0.014000	0.17966	0.019000	0.16419	0.663000	0.39108	-0.000000	0.12993	-0.434000	0.07275	0.533000	0.62120	AAG		0.701	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1		NM_022764		3	18	0	0	0	0.004672	0	3	18		
GEMIN4	50628	broad.mit.edu	37	17	649462	649462	+	Silent	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:649462G>C	ENST00000319004.5	-	2	1939	c.1821C>G	c.(1819-1821)ctC>ctG	p.L607L	GEMIN4_ENST00000576778.1_Silent_p.L596L	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	607					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CGGTTTCTTTGAGGCATGACA	0.502																																						uc002frs.1		NaN																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1819-1821)CTC>CTG		gemin 4							129.0	130.0	129.0					17																	649462		1919	4145	6064	SO:0001819	synonymous_variant	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:649462G>C	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.1821C>G	17.37:g.649462G>C							p.L607L	NM_015721	NP_056536	P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	2	1940	-		Myeloproliferative disorder(207;0.204)	607					Q9NZS7|Q9UG32|Q9Y4Q2	Silent	SNP	ENST00000319004.5	37	c.1821C>G	CCDS45559.1																																																																																				0.502	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1		NM_015721		18	150	0	0	0	0.008871	0	18	150		
PFN1	5216	broad.mit.edu	37	17	4849269	4849269	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:4849269C>G	ENST00000225655.5	-	3	968	c.349G>C	c.(349-351)Gaa>Caa	p.E117Q	PFN1_ENST00000574872.1_Missense_Mutation_p.E81Q	NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN	profilin 1	117			E -> G (in ALS18; unknown pathological significance; like the wild-type the mutant protein is detected in the soluble fraction of cells; dbSNP:rs140547520). {ECO:0000269|PubMed:22801503}.		actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cell death (GO:0008219)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of ruffle assembly (GO:1900029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|proline-rich region binding (GO:0070064)	p.E117Q(1)		NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						TGGACACCTTCTTTGCCCATC	0.552																																						uc002gaa.2		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(349-351)GAA>CAA		profilin 1							96.0	74.0	82.0					17																	4849269		2203	4300	6503	SO:0001583	missense	5216				actin cytoskeleton organization|platelet activation|platelet degranulation	actin cytoskeleton|cytoplasm	actin binding|proline-rich region binding	g.chr17:4849269C>G	BC057828	CCDS11061.1	17p13.2	2010-07-09			ENSG00000108518	ENSG00000108518			8881	protein-coding gene	gene with protein product		176610				3356709, 1968707	Standard	NM_005022		Approved		uc002gaa.4	P07737	OTTHUMG00000099396	ENST00000225655.5:c.349G>C	17.37:g.4849269C>G	ENSP00000225655:p.Glu117Gln					PFN1_uc002fzz.2_Missense_Mutation_p.E81Q	p.E117Q	NM_005022	NP_005013	P07737	PROF1_HUMAN			3	485	-			117					Q53Y44	Missense_Mutation	SNP	ENST00000225655.5	37	c.349G>C	CCDS11061.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036026	0.75617	.	.	ENSG00000108518	ENST00000225655	D	0.87412	-2.25	4.46	4.46	0.54185	.	0.075222	0.50627	D	0.000113	D	0.90570	0.7044	M	0.86178	2.8	0.44985	D	0.998002	P;D	0.53619	0.93;0.961	B;P	0.49192	0.404;0.602	D	0.92024	0.5628	10	0.59425	D	0.04	.	14.9912	0.71390	0.0:1.0:0.0:0.0	.	117;117	P07737;Q53Y44	PROF1_HUMAN;.	Q	117	ENSP00000225655:E117Q	ENSP00000225655:E117Q	E	-	1	0	PFN1	4790014	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	6.004000	0.70709	2.475000	0.83589	0.448000	0.29417	GAA		0.552	PFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216853.1		NM_005022		15	65	0	0	0	0.003163	0	15	65		
CAMTA2	23125	broad.mit.edu	37	17	4876139	4876139	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:4876139C>G	ENST00000348066.3	-	15	2551	c.2428G>C	c.(2428-2430)Gag>Cag	p.E810Q	CAMTA2_ENST00000572543.1_Missense_Mutation_p.E815Q|CAMTA2_ENST00000361571.5_Missense_Mutation_p.E809Q|CAMTA2_ENST00000381311.5_Missense_Mutation_p.E812Q|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000414043.3_Missense_Mutation_p.E833Q|CAMTA2_ENST00000358183.4_Missense_Mutation_p.E810Q	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	810					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TGTAGTTCCTCAAGGCAGCGG	0.612																																						uc002gah.1		NaN																	0				ovary(1)	1						c.(2428-2430)GAG>CAG		calmodulin binding transcription activator 2							101.0	108.0	105.0					17																	4876139		2203	4300	6503	SO:0001583	missense	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4876139C>G	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.2428G>C	17.37:g.4876139C>G	ENSP00000321813:p.Glu810Gln					CAMTA2_uc010cku.1_Missense_Mutation_p.E833Q|CAMTA2_uc002gag.1_Missense_Mutation_p.E809Q|CAMTA2_uc002gai.1_Missense_Mutation_p.E812Q|CAMTA2_uc010ckv.1_Missense_Mutation_p.E457Q	p.E810Q	NM_015099	NP_055914	O94983	CMTA2_HUMAN			15	2536	-			810			ANK 3.		B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	c.2428G>C	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782216	0.90282	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54	4.97	4.97	0.65823	Ankyrin repeat-containing domain (2);	0.151475	0.41194	D	0.000926	T	0.78214	0.4248	L	0.41906	1.305	0.45580	D	0.998524	D;D;D;D;D	0.71674	0.979;0.998;0.996;0.993;0.989	D;D;D;D;D	0.79108	0.968;0.992;0.986;0.968;0.979	T	0.78505	-0.2178	10	0.51188	T	0.08	-19.2268	15.848	0.78905	0.0:1.0:0.0:0.0	.	786;833;812;810;809	B7ZM30;E7EWU5;O94983-3;O94983;O94983-4	.;.;.;CMTA2_HUMAN;.	Q	833;812;809;810;810	ENSP00000412886:E833Q;ENSP00000370712:E812Q;ENSP00000354828:E809Q;ENSP00000350910:E810Q;ENSP00000321813:E810Q	ENSP00000321813:E810Q	E	-	1	0	CAMTA2	4816863	1.000000	0.71417	0.955000	0.39395	0.914000	0.54420	5.852000	0.69488	2.606000	0.88127	0.650000	0.86243	GAG		0.612	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1		NM_015099		50	164	0	0	0	0.01441	0	50	164		
FBXO39	162517	broad.mit.edu	37	17	6683806	6683806	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:6683806C>T	ENST00000321535.4	+	2	749	c.619C>T	c.(619-621)Cac>Tac	p.H207Y		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	207										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TTTCAGCCATCACCTTGCTGT	0.493																																						uc010vtg.1		NaN																	0				ovary(1)|skin(1)	2						c.(619-621)CAC>TAC		F-box protein 39							81.0	75.0	77.0					17																	6683806		2203	4300	6503	SO:0001583	missense	162517							g.chr17:6683806C>T	BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"""F-boxes /  ""other"""""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.619C>T	17.37:g.6683806C>T	ENSP00000321386:p.His207Tyr						p.H207Y	NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN			2	739	+			207						Missense_Mutation	SNP	ENST00000321535.4	37	c.619C>T	CCDS11082.1	.	.	.	.	.	.	.	.	.	.	C	0.025	-1.378441	0.01204	.	.	ENSG00000177294	ENST00000321535	T	0.52526	0.66	5.23	4.23	0.50019	.	0.085770	0.50627	D	0.000115	T	0.35998	0.0951	L	0.29908	0.895	0.38772	D	0.954561	D	0.54207	0.965	P	0.47827	0.558	T	0.32929	-0.9888	10	0.02654	T	1	-38.3245	11.5504	0.50716	0.1792:0.8208:0.0:0.0	.	207	Q8N4B4	FBX39_HUMAN	Y	207	ENSP00000321386:H207Y	ENSP00000321386:H207Y	H	+	1	0	FBXO39	6624530	0.981000	0.34729	0.954000	0.39281	0.413000	0.31143	2.533000	0.45667	1.459000	0.47892	0.650000	0.86243	CAC		0.493	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2		NM_153230		15	81	0	0	0	0.00245	0	15	81		
BCL6B	255877	broad.mit.edu	37	17	6928501	6928501	+	Missense_Mutation	SNP	C	C	T	rs373080450		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:6928501C>T	ENST00000293805.5	+	5	963	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	291					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			skin(1)	1						ACCCTCTGAACGGGCTCGTCC	0.557																																						uc002geg.2		NaN																	0				skin(1)	1						c.(871-873)CGG>TGG		B-cell CLL/lymphoma 6, member B (zinc finger		T	TRP/ARG	0,3816		0,0,1908	130.0	135.0	133.0		871	2.1	0.0	17		133	1,8247		0,1,4123	no	missense	BCL6B	NM_181844.3	101	0,1,6031	TT,TC,CC		0.0121,0.0,0.0083	possibly-damaging	291/480	6928501	1,12063	1908	4124	6032	SO:0001583	missense	255877					nucleus	zinc ion binding	g.chr17:6928501C>T	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1002	protein-coding gene	gene with protein product		608992	"""zinc finger protein 62"", ""B-cell CLL/lymphoma 6, member B (zinc finger protein)"""	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.871C>T	17.37:g.6928501C>T	ENSP00000293805:p.Arg291Trp					BCL6B_uc010clt.1_Missense_Mutation_p.R292W	p.R291W	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN			5	928	+			291					Q6PCB4	Missense_Mutation	SNP	ENST00000293805.5	37	c.871C>T	CCDS42248.1	.	.	.	.	.	.	.	.	.	.	c	8.713	0.912499	0.17907	0.0	1.21E-4	ENSG00000161940	ENST00000293805	T	0.08193	3.12	5.35	2.1	0.27182	.	2.211760	0.01345	N	0.011681	T	0.04407	0.0121	N	0.08118	0	0.09310	N	1	P	0.52170	0.951	B	0.36418	0.224	T	0.20405	-1.0276	10	0.87932	D	0	.	3.8955	0.09138	0.1683:0.5827:0.1624:0.0866	.	291	Q8N143	BCL6B_HUMAN	W	291	ENSP00000293805:R291W	ENSP00000293805:R291W	R	+	1	2	BCL6B	6869225	0.077000	0.21312	0.006000	0.13384	0.003000	0.03518	0.651000	0.24873	0.944000	0.37579	-0.119000	0.15052	CGG		0.557	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2		NM_181844		10	158	0	0	0	0.006214	0	10	158		
NTN1	9423	broad.mit.edu	37	17	8925911	8925911	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:8925911C>T	ENST00000173229.2	+	2	328	c.221C>T	c.(220-222)cCg>cTg	p.P74L	NTN1_ENST00000546090.1_Missense_Mutation_p.P74L|NTN1_ENST00000538852.1_Missense_Mutation_p.P74L	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	74	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)			NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						GGCCGGCCCCCGGCGCGCTAC	0.726																																						uc002glw.3		NaN																	0					0						c.(220-222)CCG>CTG		netrin 1 precursor							3.0	4.0	4.0					17																	8925911		1933	3825	5758	SO:0001583	missense	9423				apoptosis|axon guidance		protein binding	g.chr17:8925911C>T	U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"""Netrins"""	8029	protein-coding gene	gene with protein product	"""Netrin-1"""	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.221C>T	17.37:g.8925911C>T	ENSP00000173229:p.Pro74Leu						p.P74L	NM_004822	NP_004813	O95631	NET1_HUMAN			2	328	+			74			Laminin N-terminal.		E9KL51	Missense_Mutation	SNP	ENST00000173229.2	37	c.221C>T	CCDS11148.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860107	0.71834	.	.	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090	T;T;T	0.80214	-1.35;-1.35;-1.35	4.62	3.64	0.41730	Laminin, N-terminal (3);	0.115705	0.64402	D	0.000013	D	0.85053	0.5609	M	0.90814	3.15	0.80722	D	1	B	0.33103	0.397	B	0.37989	0.262	D	0.85897	0.1432	10	0.66056	D	0.02	.	13.9931	0.64378	0.1528:0.8472:0.0:0.0	.	74	O95631	NET1_HUMAN	L	74	ENSP00000173229:P74L;ENSP00000443259:P74L;ENSP00000441611:P74L	ENSP00000173229:P74L	P	+	2	0	NTN1	8866636	0.980000	0.34600	1.000000	0.80357	0.996000	0.88848	3.877000	0.56123	0.924000	0.37069	0.580000	0.79431	CCG		0.726	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252583.1				3	10	0	0	0	0.004672	0	3	10		
GLP2R	9340	broad.mit.edu	37	17	9729386	9729386	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:9729386G>C	ENST00000262441.5	+	1	519	c.6G>C	c.(4-6)aaG>aaC	p.K2N	GLP2R_ENST00000574745.1_Intron	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	2					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	GGAAGATGAAGCTGGGATCGA	0.632																																						uc002gmd.1		NaN																	0				lung(2)|ovary(1)	3						c.(4-6)AAG>AAC		glucagon-like peptide 2 receptor precursor	Glucagon recombinant(DB00040)						42.0	35.0	37.0					17																	9729386		2203	4300	6503	SO:0001583	missense	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9729386G>C	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.6G>C	17.37:g.9729386G>C	ENSP00000262441:p.Lys2Asn					GLP2R_uc010cog.1_RNA	p.K2N	NM_004246	NP_004237	O95838	GLP2R_HUMAN			1	6	+			2			Extracellular (Potential).		Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.6G>C	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813820	0.32053	.	.	ENSG00000065325	ENST00000396206;ENST00000262441	T	0.57273	0.41	3.52	3.52	0.40303	.	.	.	.	.	T	0.32556	0.0833	N	0.08118	0	0.09310	N	1	B	0.26400	0.148	B	0.22152	0.038	T	0.23226	-1.0194	9	0.72032	D	0.01	.	10.8694	0.46875	0.0:0.0:1.0:0.0	.	2	O95838	GLP2R_HUMAN	N	2	ENSP00000262441:K2N	ENSP00000262441:K2N	K	+	3	2	GLP2R	9670111	0.995000	0.38212	0.067000	0.19924	0.009000	0.06853	2.225000	0.42954	2.274000	0.75844	0.655000	0.94253	AAG		0.632	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4				6	26	0	0	0	0.001984	0	6	26		
KRTAP1-1	81851	broad.mit.edu	37	17	39197393	39197393	+	Missense_Mutation	SNP	T	T	C	rs201732142		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:39197393T>C	ENST00000306271.4	-	1	320	c.257A>G	c.(256-258)tAc>tGc	p.Y86C		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	86			Missing (in allele KAP1.7). {ECO:0000269|PubMed:11841537}.			keratin filament (GO:0045095)		p.Y86C(4)		NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTGGTCTGGTAGCAGCTTGG	0.587																																						uc002hvw.1		NaN																	4	Substitution - Missense(4)		lung(2)|kidney(1)|endometrium(1)		0						c.(256-258)TAC>TGC		keratin associated protein 1-1							47.0	51.0	49.0					17																	39197393		2010	4190	6200	SO:0001583	missense	81851					extracellular region|keratin filament		g.chr17:39197393T>C	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"""Keratin associated proteins"""	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.257A>G	17.37:g.39197393T>C	ENSP00000305975:p.Tyr86Cys						p.Y86C	NM_030967	NP_112229	Q07627	KRA11_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	321	-		Breast(137;0.000496)	86		Missing (in allele KAP1.7).			A6NC32|Q96S60|Q96S67	Missense_Mutation	SNP	ENST00000306271.4	37	c.257A>G	CCDS42324.1	.	.	.	.	.	.	.	.	.	.	T	0.037	-1.304092	0.01353	.	.	ENSG00000188581	ENST00000306271;ENST00000543328	T	0.27557	1.66	4.0	-7.99	0.01131	.	.	.	.	.	T	0.01940	0.0061	N	0.00002	-3.6	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42361	-0.9456	9	0.02654	T	1	.	3.8365	0.08896	0.3382:0.2456:0.3404:0.0759	.	86	Q07627	KRA11_HUMAN	C	86;76	ENSP00000305975:Y86C	ENSP00000305975:Y86C	Y	-	2	0	KRTAP1-1	36450919	0.001000	0.12720	0.000000	0.03702	0.075000	0.17131	-0.958000	0.03857	-1.490000	0.01842	-0.977000	0.02584	TAC		0.587	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1		NM_030967		4	124	0	0	0	0.009096	0	4	124		
HDAC5	10014	broad.mit.edu	37	17	42171034	42171034	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:42171034T>A	ENST00000393622.2	-	4	594	c.263A>T	c.(262-264)cAg>cTg	p.Q88L	HDAC5_ENST00000586802.1_Missense_Mutation_p.Q88L|HDAC5_ENST00000225983.6_Missense_Mutation_p.Q89L|HDAC5_ENST00000336057.5_Missense_Mutation_p.Q88L	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	88	Poly-Gln.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		cttctgcagctgctgctgctg	0.622																																						uc002ifd.1		NaN																	0				ovary(1)	1						c.(262-264)CAG>CTG		histone deacetylase 5 isoform 1							14.0	14.0	14.0					17																	42171034		2195	4282	6477	SO:0001583	missense	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42171034T>A	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.263A>T	17.37:g.42171034T>A	ENSP00000377244:p.Gln88Leu					HDAC5_uc002ife.1_Missense_Mutation_p.Q88L|HDAC5_uc002iff.1_Missense_Mutation_p.Q89L|HDAC5_uc010czp.1_Missense_Mutation_p.Q88L|HDAC5_uc002ifh.2_Missense_Mutation_p.Q88L	p.Q88L	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	4	474	-		Breast(137;0.00637)|Prostate(33;0.0313)	88			Poly-Gln.		C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	c.263A>T	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.291926	0.59976	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.05025	3.51;3.51;3.51	4.31	4.31	0.51392	Histone deacetylase, glutamine rich N-terminal domain (1);	0.094009	0.43747	U	0.000524	T	0.10508	0.0257	M	0.80183	2.485	0.43263	D	0.9952	P;P;P;P	0.46512	0.879;0.761;0.718;0.761	B;B;B;B	0.37015	0.154;0.239;0.154;0.239	T	0.05517	-1.0880	10	0.87932	D	0	-4.1898	12.4366	0.55602	0.0:0.0:0.0:1.0	.	88;88;89;88	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	L	89;88;88	ENSP00000225983:Q89L;ENSP00000377244:Q88L;ENSP00000337290:Q88L	ENSP00000225983:Q89L	Q	-	2	0	HDAC5	39526560	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.612000	0.82975	1.584000	0.49913	0.379000	0.24179	CAG		0.622	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1		NM_001015053		3	32	0	0	0	0.004672	0	3	32		
XYLT2	64132	broad.mit.edu	37	17	48431297	48431297	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:48431297G>C	ENST00000017003.2	+	2	491	c.442G>C	c.(442-444)Gag>Cag	p.E148Q	XYLT2_ENST00000507602.1_Missense_Mutation_p.E148Q	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	148					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					AGGGAGCGTGGAGGGCGCCCC	0.692																																						uc002iqo.2		NaN																	0				pancreas(1)	1						c.(442-444)GAG>CAG		xylosyltransferase II							26.0	27.0	27.0					17																	48431297		2200	4296	6496	SO:0001583	missense	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48431297G>C	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.442G>C	17.37:g.48431297G>C	ENSP00000017003:p.Glu148Gln					XYLT2_uc010dbo.2_RNA	p.E148Q	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN			2	551	+	Breast(11;7.18e-19)		148			Lumenal (Potential).		Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	37	c.442G>C	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960062	0.74016	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.09723	3.51;2.95	4.38	4.38	0.52667	.	0.105485	0.64402	D	0.000005	T	0.11281	0.0275	L	0.34521	1.04	0.58432	D	0.999991	P	0.49961	0.93	P	0.45474	0.482	T	0.23726	-1.0180	10	0.12766	T	0.61	-25.0057	17.1239	0.86709	0.0:0.0:1.0:0.0	.	148	Q9H1B5	XYLT2_HUMAN	Q	148	ENSP00000017003:E148Q;ENSP00000426501:E148Q	ENSP00000017003:E148Q	E	+	1	0	XYLT2	45786296	1.000000	0.71417	1.000000	0.80357	0.510000	0.34073	6.407000	0.73280	2.286000	0.76751	0.313000	0.20887	GAG		0.692	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1		NM_022167		9	47	0	0	0	0.004482	0	9	47		
NACA2	342538	broad.mit.edu	37	17	59668370	59668370	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:59668370C>T	ENST00000521764.1	-	1	193	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	58					myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TCATCAATTTCAGCTGCTGCC	0.493																																						uc002izj.2		NaN																	0				ovary(1)	1						c.(172-174)GAA>AAA		nascent-polypeptide-associated complex alpha							135.0	125.0	129.0					17																	59668370		2203	4300	6503	SO:0001583	missense	342538				protein transport	cytoplasm|nucleus		g.chr17:59668370C>T	BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"""alpha-NAC protein"""	609274	"""nascent-polypeptide-associated complex alpha polypeptide-like"""	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.172G>A	17.37:g.59668370C>T	ENSP00000427802:p.Glu58Lys						p.E58K	NM_199290	NP_954984	Q9H009	NACA2_HUMAN			1	198	-	all_epithelial(1;3.12e-14)		58					Q2VIR9	Missense_Mutation	SNP	ENST00000521764.1	37	c.172G>A	CCDS11630.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839894	0.51057	.	.	ENSG00000253506	ENST00000521764	T	0.42900	0.96	0.753	0.753	0.18404	.	0.000000	0.64402	U	0.000003	T	0.43255	0.1239	M	0.61703	1.905	0.45194	D	0.998208	D	0.53885	0.963	P	0.50570	0.644	T	0.32613	-0.9900	9	.	.	.	.	7.3227	0.26536	0.0:1.0:0.0:0.0	.	58	Q9H009	NACA2_HUMAN	K	58	ENSP00000427802:E58K	.	E	-	1	0	NACA2	57023152	1.000000	0.71417	0.799000	0.32177	0.307000	0.27823	4.878000	0.63093	0.702000	0.31825	0.411000	0.27672	GAA		0.493	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2		NM_199290		37	165	0	0	0	0.003755	0	37	165		
H3F3B	3021	broad.mit.edu	37	17	73774687	73774687	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:73774687C>G	ENST00000254810.4	-	4	532	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	H3F3B_ENST00000587560.1_Missense_Mutation_p.E134Q|H3F3B_ENST00000586607.1_Missense_Mutation_p.E134Q|H3F3B_ENST00000591890.1_3'UTR|H3F3B_ENST00000593254.1_5'UTR|H3F3B_ENST00000589599.1_Missense_Mutation_p.E134Q|H3F3B_ENST00000592643.1_Missense_Mutation_p.E109D	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	134					blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TAAGCTCTCTCTCCCCGTATC	0.418																																						uc002jpl.2		NaN																	0				ovary(1)	1						c.(400-402)GAG>CAG		H3 histone, family 3B							120.0	118.0	119.0					17																	73774687		2203	4300	6503	SO:0001583	missense	3021				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding	g.chr17:73774687C>G	Z48950	CCDS11729.1	17q25.1	2011-06-01			ENSG00000132475	ENSG00000132475		"""Histones / Replication-independent"""	4765	protein-coding gene	gene with protein product		601058				8586426	Standard	NM_005324		Approved	H3.3B	uc002jpl.3	P84243		ENST00000254810.4:c.400G>C	17.37:g.73774687C>G	ENSP00000254810:p.Glu134Gln						p.E134Q	NM_005324	NP_005315	P84243	H33_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)		4	533	-	all_cancers(13;1.5e-07)		134					P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	ENST00000254810.4	37	c.400G>C	CCDS11729.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535076	0.45073	.	.	ENSG00000132475	ENST00000254810	T	0.48836	0.8	5.31	5.31	0.75309	.	0.000000	0.56097	U	0.000021	T	0.70072	0.3182	M	0.80847	2.515	0.48341	D	0.999637	.	.	.	.	.	.	T	0.73914	-0.3832	8	0.87932	D	0	.	19.1734	0.93590	0.0:1.0:0.0:0.0	.	.	.	.	Q	134	ENSP00000254810:E134Q	ENSP00000254810:E134Q	E	-	1	0	H3F3B	71286282	1.000000	0.71417	0.976000	0.42696	0.591000	0.36615	7.489000	0.81451	2.767000	0.95098	0.561000	0.74099	GAG		0.418	H3F3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448499.1		NM_005324		32	132	0	0	0	0.010818	0	32	132		
UNC13D	201294	broad.mit.edu	37	17	73824054	73824054	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:73824054C>T	ENST00000207549.4	-	32	3644	c.3265G>A	c.(3265-3267)Gca>Aca	p.A1089T	UNC13D_ENST00000412096.2_Intron	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	1089					defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCTACGGTGCCGGCCGCAAG	0.697									Familial Hemophagocytic Lymphohistiocytosis																													uc002jpp.2		NaN																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(3265-3267)GCA>ACA		unc-13 homolog D							8.0	11.0	10.0					17																	73824054		2163	4244	6407	SO:0001583	missense	201294	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73824054C>T	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.3265G>A	17.37:g.73824054C>T	ENSP00000207549:p.Ala1089Thr						p.A1089T	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		32	3645	-			1089					B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	c.3265G>A	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741249	0.49151	.	.	ENSG00000092929	ENST00000207549	T	0.70516	-0.49	4.77	3.8	0.43715	.	0.704300	0.12881	N	0.431415	T	0.57036	0.2026	N	0.22421	0.69	0.38445	D	0.946807	B	0.16166	0.016	B	0.16289	0.015	T	0.55685	-0.8102	10	0.46703	T	0.11	.	11.0804	0.48057	0.0:0.9093:0.0:0.0907	.	1089	Q70J99	UN13D_HUMAN	T	1089	ENSP00000207549:A1089T	ENSP00000207549:A1089T	A	-	1	0	UNC13D	71335649	0.000000	0.05858	0.042000	0.18584	0.002000	0.02628	0.303000	0.19210	1.391000	0.46566	0.561000	0.74099	GCA		0.697	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2		XM_113950		3	24	0	0	0	0.004672	0	3	24		
TMC6	11322	broad.mit.edu	37	17	76120607	76120607	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:76120607C>T	ENST00000590602.1	-	8	1048	c.889G>A	c.(889-891)Gcg>Acg	p.A297T	TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000589553.1_Missense_Mutation_p.A70T|TMC6_ENST00000592076.1_5'Flank|TMC6_ENST00000591436.1_5'Flank|TMC6_ENST00000392467.3_Missense_Mutation_p.A297T|TMC6_ENST00000306591.7_Missense_Mutation_p.A297T|TMC6_ENST00000322914.3_Missense_Mutation_p.A297T			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	297					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TTCCTCACCGCGCCTGTGAGG	0.697																																						uc002juj.1		NaN																	0					0						c.(889-891)GCG>ACG		transmembrane channel-like 6							12.0	16.0	15.0					17																	76120607		2164	4210	6374	SO:0001583	missense	11322	Epidermodysplasia_Verruciformis_Familial_Clustering_of				endoplasmic reticulum membrane|integral to membrane		g.chr17:76120607C>T	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.889G>A	17.37:g.76120607C>T	ENSP00000465261:p.Ala297Thr					TMC6_uc002jui.1_5'Flank|TMC6_uc010dhf.1_Missense_Mutation_p.A130T|TMC6_uc002juk.2_Missense_Mutation_p.A297T|TMC6_uc010dhg.1_Missense_Mutation_p.A297T|TMC6_uc002jul.1_Missense_Mutation_p.A297T|TMC6_uc002jum.3_Missense_Mutation_p.A88T|TMC6_uc002jun.3_Missense_Mutation_p.A297T|TMC6_uc002juo.2_Missense_Mutation_p.A70T|TMC6_uc010wtp.1_Missense_Mutation_p.A130T	p.A297T	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		7	1015	-			297			Lumenal (Potential).		O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	37	c.889G>A	CCDS32748.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254194	0.80135	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000306591	T;T;T	0.52754	0.65;0.65;0.65	3.64	2.64	0.31445	.	0.574213	0.15303	N	0.269533	T	0.37865	0.1019	L	0.33293	1	0.80722	D	1	D;P;P;D;B	0.56968	0.968;0.807;0.807;0.978;0.109	B;B;B;B;B	0.44108	0.441;0.139;0.087;0.357;0.042	T	0.29640	-1.0005	10	0.48119	T	0.1	-13.2063	10.8039	0.46504	0.0:0.8999:0.0:0.1	.	134;297;70;297;297	B4E003;Q7Z403-2;Q7Z403-4;B3KTU5;Q7Z403	.;.;.;.;TMC6_HUMAN	T	297	ENSP00000313408:A297T;ENSP00000376260:A297T;ENSP00000306405:A297T	ENSP00000306405:A297T	A	-	1	0	TMC6	73632202	0.993000	0.37304	0.997000	0.53966	0.974000	0.67602	3.267000	0.51577	1.567000	0.49668	0.462000	0.41574	GCG		0.697	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1				6	38	0	0	0	0.001984	0	6	38		
BAHCC1	57597	broad.mit.edu	37	17	79426591	79426591	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:79426591C>G	ENST00000307745.7	+	27	5866	c.5866C>G	c.(5866-5868)Cag>Gag	p.Q1956E	RP11-1055B8.8_ENST00000572590.1_RNA																							CTACTGGAGTCAGAAGTCTCG	0.657																																						uc002kaf.2		NaN																	0				ovary(1)	1						c.(5866-5868)CAG>GAG		BAH domain and coiled-coil containing 1							49.0	59.0	55.0					17																	79426591		2053	4186	6239	SO:0001583	missense	57597						DNA binding	g.chr17:79426591C>G																												ENST00000307745.7:c.5866C>G	17.37:g.79426591C>G	ENSP00000303486:p.Gln1956Glu					BAHCC1_uc002kae.2_Missense_Mutation_p.Q1186E	p.Q1956E	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)		21	5866	+	all_neural(118;0.0804)|Melanoma(429;0.242)		1956						Missense_Mutation	SNP	ENST00000307745.7	37	c.5866C>G		.	.	.	.	.	.	.	.	.	.	C	17.47	3.398452	0.62177	.	.	ENSG00000171282	ENST00000307745	T	0.45668	0.89	4.9	4.9	0.64082	.	0.000000	0.56097	D	0.000021	T	0.28433	0.0703	N	0.25957	0.775	0.34106	D	0.662439	B;B	0.33637	0.296;0.42	B;B	0.29176	0.068;0.099	T	0.35101	-0.9802	10	0.15066	T	0.55	.	15.5589	0.76223	0.0:1.0:0.0:0.0	.	1956;1956	Q9P281;F8WBW8	BAHC1_HUMAN;.	E	1956	ENSP00000303486:Q1956E	ENSP00000303486:Q1956E	Q	+	1	0	AC110285.1	77041186	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.598000	0.67585	2.273000	0.75805	0.561000	0.74099	CAG		0.657	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding					14	98	0	0	0	0.003163	0	14	98		
FSCN2	25794	broad.mit.edu	37	17	79503966	79503966	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:79503966G>C	ENST00000417245.2	+	5	1475	c.1339G>C	c.(1339-1341)Gag>Cag	p.E447Q	FSCN2_ENST00000334850.7_Missense_Mutation_p.E471Q	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	447					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CGAACGCGCCGAGGACTTCGT	0.761																																						uc010wup.1		NaN																	0					0						c.(1339-1341)GAG>CAG		fascin 2 isoform 1							6.0	8.0	8.0					17																	79503966		1774	3872	5646	SO:0001583	missense	25794				actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging	g.chr17:79503966G>C	AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"""Fascins"""	3960	protein-coding gene	gene with protein product		607643	"""fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)"", ""fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"""			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.1339G>C	17.37:g.79503966G>C	ENSP00000388716:p.Glu447Gln					FSCN2_uc010wuo.1_Missense_Mutation_p.E471Q	p.E447Q	NM_012418	NP_036550	O14926	FSCN2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		5	1480	+	all_neural(118;0.0878)|Melanoma(429;0.242)		447					A0AVC4|A8MRA6	Missense_Mutation	SNP	ENST00000417245.2	37	c.1339G>C	CCDS45811.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.191426	0.38707	.	.	ENSG00000186765	ENST00000417245;ENST00000334850	T;T	0.47177	0.85;1.5	4.31	4.31	0.51392	Fascin domain (1);Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.999;0.967	D;P	0.74023	0.982;0.785	T	0.63791	-0.6557	10	0.14656	T	0.56	-1.2234	16.353	0.83224	0.0:0.0:1.0:0.0	.	447;471	O14926;A8MRA6	FSCN2_HUMAN;.	Q	447;471	ENSP00000388716:E447Q;ENSP00000334665:E471Q	ENSP00000334665:E471Q	E	+	1	0	FSCN2	77114442	1.000000	0.71417	0.997000	0.53966	0.133000	0.20885	8.865000	0.92300	1.940000	0.56252	0.484000	0.47621	GAG		0.761	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394746.1		NM_012418		6	14	0	0	0	0.001168	0	6	14		
ENOSF1	55556	broad.mit.edu	37	18	691231	691231	+	Missense_Mutation	SNP	C	C	T	rs377711094		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr18:691231C>T	ENST00000251101.7	-	6	557	c.469G>A	c.(469-471)Gat>Aat	p.D157N	ENOSF1_ENST00000340116.7_Missense_Mutation_p.D178N|ENOSF1_ENST00000383578.3_Missense_Mutation_p.D75N|ENOSF1_ENST00000580982.1_Intron	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	157					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						GTCAGGACATCAGTGATGTAC	0.483																																						uc002kku.3		NaN																	0				ovary(1)	1						c.(469-471)GAT>AAT		enolase superfamily 1 isoform rTS beta							96.0	89.0	92.0					18																	691231		2203	4300	6503	SO:0001583	missense	55556				cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding	g.chr18:691231C>T	X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.469G>A	18.37:g.691231C>T	ENSP00000251101:p.Asp157Asn					ENOSF1_uc002kkt.3_Missense_Mutation_p.D75N|ENOSF1_uc010dke.2_RNA|ENOSF1_uc010dkf.2_Missense_Mutation_p.D178N|ENOSF1_uc002kkv.3_Missense_Mutation_p.D157N|ENOSF1_uc002kkw.3_Intron|ENOSF1_uc002kkx.3_Intron|ENOSF1_uc010wyt.1_RNA	p.D157N	NM_017512	NP_059982	Q7L5Y1	ENOF1_HUMAN			6	544	-			157					A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Missense_Mutation	SNP	ENST00000251101.7	37	c.469G>A	CCDS11822.1	.	.	.	.	.	.	.	.	.	.	C	35	5.417280	0.96092	.	.	ENSG00000132199	ENST00000383578;ENST00000251101;ENST00000340116	T;T;T	0.42900	0.96;1.47;1.49	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.68467	0.3004	M	0.88512	2.96	0.80722	D	1	P;P;P;D	0.54964	0.947;0.947;0.947;0.969	P;P;P;P	0.61275	0.772;0.862;0.772;0.886	T	0.73430	-0.3985	10	0.51188	T	0.08	.	17.8681	0.88801	0.0:1.0:0.0:0.0	.	178;202;157;75	A6NMP3;Q6ZS08;Q7L5Y1;Q7L5Y1-2	.;.;ENOF1_HUMAN;.	N	75;157;178	ENSP00000373072:D75N;ENSP00000251101:D157N;ENSP00000345974:D178N	ENSP00000251101:D157N	D	-	1	0	ENOSF1	681231	1.000000	0.71417	0.612000	0.29024	0.918000	0.54935	6.411000	0.73298	2.525000	0.85131	0.650000	0.86243	GAT		0.483	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2		NM_017512		5	83	0	0	0	0.001168	0	5	83		
LAMA3	3909	broad.mit.edu	37	18	21427492	21427492	+	Silent	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr18:21427492G>A	ENST00000313654.9	+	32	4237	c.3996G>A	c.(3994-3996)acG>acA	p.T1332T	LAMA3_ENST00000399516.3_Silent_p.T1332T	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1332	Domain III B.|Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CTCCCCGCACGGTCAGGCCCC	0.622																																						uc002kuq.2		NaN																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(3994-3996)ACG>ACA		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						38.0	42.0	40.0					18																	21427492		2077	4189	6266	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21427492G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.3996G>A	18.37:g.21427492G>A						LAMA3_uc002kur.2_Silent_p.T1332T	p.T1332T	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			32	4082	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1332			Laminin EGF-like 10.|Domain III B.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.3996G>A	CCDS42419.1																																																																																				0.622	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3		NM_000227, NM_198129		8	78	0	0	0	0.00308	0	8	78		
SMAD7	4092	broad.mit.edu	37	18	46476250	46476250	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr18:46476250G>C	ENST00000262158.2	-	1	831	c.545C>G	c.(544-546)tCt>tGt	p.S182C	SMAD7_ENST00000589634.1_Missense_Mutation_p.S182C|SMAD7_ENST00000591805.1_5'Flank	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	182	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					CTTCCCGTAAGATTCACAGCA	0.572											OREG0024975	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ldg.2		NaN																	0					0						c.(544-546)TCT>TGT		SMAD family member 7							50.0	52.0	51.0					18																	46476250		2203	4300	6503	SO:0001583	missense	4092				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:46476250G>C	AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"""SMADs"""	6773	protein-coding gene	gene with protein product		602932	"""MAD, mothers against decapentaplegic homolog 7 (Drosophila)"", ""SMAD, mothers against DPP homolog 7 (Drosophila)"""	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.545C>G	18.37:g.46476250G>C	ENSP00000262158:p.Ser182Cys		OREG0024975	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	939	SMAD7_uc010xde.1_5'Flank	p.S182C	NM_005904	NP_005895	O15105	SMAD7_HUMAN			1	832	-	Colorectal(1;0.0518)		182			MH1.		B7Z773|K7EQ10|O14740|Q6DK23	Missense_Mutation	SNP	ENST00000262158.2	37	c.545C>G	CCDS11936.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483971	0.63962	.	.	ENSG00000101665	ENST00000262158	T	0.72942	-0.7	4.7	4.7	0.59300	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.057065	0.64402	D	0.000001	T	0.81828	0.4905	M	0.65498	2.005	0.58432	D	0.999999	D	0.76494	0.999	D	0.70935	0.971	T	0.82331	-0.0510	10	0.44086	T	0.13	.	16.2154	0.82211	0.0:0.0:1.0:0.0	.	182	O15105	SMAD7_HUMAN	C	182	ENSP00000262158:S182C	ENSP00000262158:S182C	S	-	2	0	SMAD7	44730248	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.361000	0.66092	2.158000	0.67659	0.561000	0.74099	TCT		0.572	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255906.1		NM_005904		5	53	0	0	0	0.000602	0	5	53		
KCNG2	26251	broad.mit.edu	37	18	77659423	77659423	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr18:77659423C>T	ENST00000316249.3	+	2	1008	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	336					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		TGGCGCTCTTCGCGCCACTGG	0.716																																						uc010xfl.1		NaN																	0					0						c.(1006-1008)TTC>TTT		potassium voltage-gated channel, subfamily G,							9.0	11.0	11.0					18																	77659423		2165	4202	6367	SO:0001819	synonymous_variant	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77659423C>T	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.1008C>T	18.37:g.77659423C>T							p.F336F	NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	2	1008	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	336			Helical; Name=Segment S5; (Potential).			Silent	SNP	ENST00000316249.3	37	c.1008C>T	CCDS12019.1																																																																																				0.716	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1		NM_012283		5	11	0	0	0	0.000602	0	5	11		
SGTA	6449	broad.mit.edu	37	19	2762518	2762518	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:2762518C>T	ENST00000221566.2	-	7	783	c.622G>A	c.(622-624)Gag>Aag	p.E208K		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	208					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGGGGCCTCCCGCAGCTTC	0.647																																						uc002lwi.1		NaN																	0				ovary(1)	1						c.(622-624)GAG>AAG		small glutamine-rich tetratricopeptide							80.0	78.0	78.0					19																	2762518		2203	4300	6503	SO:0001583	missense	6449				interspecies interaction between organisms	cytoplasm	protein binding	g.chr19:2762518C>T	AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"""Tetratricopeptide (TTC) repeat domain containing"""	10819	protein-coding gene	gene with protein product		603419	"""small glutamine-rich tetratricopeptide repeat (TPR)-containing"""	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.622G>A	19.37:g.2762518C>T	ENSP00000221566:p.Glu208Lys						p.E208K	NM_003021	NP_003012	O43765	SGTA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	769	-		Hepatocellular(1079;0.137)	208					D6W610|Q6FIA9|Q9BTZ9	Missense_Mutation	SNP	ENST00000221566.2	37	c.622G>A	CCDS12094.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458230	0.43634	.	.	ENSG00000104969	ENST00000221566	T	0.28069	1.63	4.25	4.25	0.50352	Tetratricopeptide-like helical (1);	0.115730	0.64402	D	0.000020	T	0.41880	0.1178	M	0.86420	2.815	0.80722	D	1	B	0.30851	0.297	B	0.29942	0.109	T	0.53704	-0.8401	10	0.72032	D	0.01	-26.2215	15.2607	0.73621	0.0:1.0:0.0:0.0	.	208	O43765	SGTA_HUMAN	K	208	ENSP00000221566:E208K	ENSP00000221566:E208K	E	-	1	0	SGTA	2713518	1.000000	0.71417	0.263000	0.24496	0.031000	0.12232	7.327000	0.79147	1.917000	0.55516	0.655000	0.94253	GAG		0.647	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2		NM_003021		12	111	0	0	0	0.010729	0	12	111		
LRG1	116844	broad.mit.edu	37	19	4538457	4538457	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:4538457G>T	ENST00000306390.6	-	2	999	c.539C>A	c.(538-540)cCc>cAc	p.P180H	CTB-50L17.14_ENST00000586020.1_Intron|LRG1_ENST00000586883.1_5'Flank	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	180					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCCGGGGGGCAGTTTCCG	0.622																																						uc002mau.2		NaN																	0				ovary(1)	1						c.(538-540)CCC>CAC		leucine-rich alpha-2-glycoprotein 1 precursor							84.0	96.0	92.0					19																	4538457		2203	4300	6503	SO:0001583	missense	116844					extracellular region|membrane		g.chr19:4538457G>T		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.539C>A	19.37:g.4538457G>T	ENSP00000302621:p.Pro180His					PLIN5_uc002mat.1_Intron	p.P180H	NM_052972	NP_443204	P02750	A2GL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	550	-		Hepatocellular(1079;0.137)	180			LRR 4.		Q8N4F5|Q96QZ4	Missense_Mutation	SNP	ENST00000306390.6	37	c.539C>A	CCDS12130.1	.	.	.	.	.	.	.	.	.	.	.	14.09	2.431340	0.43122	.	.	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.02579	4.24	4.93	3.86	0.44501	.	0.000000	0.40469	N	0.001097	T	0.10852	0.0265	L	0.57130	1.785	0.41435	D	0.987885	D	0.89917	1.0	D	0.80764	0.994	T	0.01071	-1.1461	10	0.72032	D	0.01	-33.2558	10.9465	0.47304	0.0:0.1894:0.8106:0.0	.	180	P02750	A2GL_HUMAN	H	180;163	ENSP00000302621:P180H	ENSP00000302621:P180H	P	-	2	0	LRG1	4489457	0.975000	0.34042	0.754000	0.31244	0.040000	0.13550	1.775000	0.38584	1.263000	0.44181	0.655000	0.94253	CCC		0.622	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2		NM_052972		25	265	1	0	1.96895e-08	0.00278	2.11529e-08	25	265		
FBN3	84467	broad.mit.edu	37	19	8152753	8152753	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:8152753C>G	ENST00000600128.1	-	53	6989	c.6575G>C	c.(6574-6576)tGt>tCt	p.C2192S	FBN3_ENST00000270509.2_Missense_Mutation_p.C2192S|FBN3_ENST00000601739.1_Missense_Mutation_p.C2192S			Q75N90	FBN3_HUMAN	fibrillin 3	2192	EGF-like 35; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCCGGCTGGACAGGTGCACAG	0.567																																						uc002mjf.2		NaN																	0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(6574-6576)TGT>TCT		fibrillin 3 precursor							123.0	122.0	123.0					19																	8152753		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8152753C>G		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6575G>C	19.37:g.8152753C>G	ENSP00000470498:p.Cys2192Ser					FBN3_uc002mje.2_Missense_Mutation_p.C31S	p.C2192S	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			52	6596	-			2192			EGF-like 35; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.6575G>C	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575720	0.86645	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.99429	-5.89	4.52	4.52	0.55395	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.110416	0.64402	U	0.000005	D	0.99760	0.9903	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.969;0.998	D	0.96760	0.9560	10	0.87932	D	0	.	17.6164	0.88068	0.0:1.0:0.0:0.0	.	2192;298	Q75N90;Q6ZNB8	FBN3_HUMAN;.	S	2192;298	ENSP00000270509:C2192S	ENSP00000270509:C2192S	C	-	2	0	FBN3	8058753	1.000000	0.71417	0.999000	0.59377	0.814000	0.46013	7.350000	0.79385	2.231000	0.72958	0.313000	0.20887	TGT		0.567	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2		NM_032447		12	157	0	0	0	0.013537	0	12	157		
MYO1F	4542	broad.mit.edu	37	19	8591788	8591788	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:8591788C>G	ENST00000338257.8	-	23	2773	c.2506G>C	c.(2506-2508)Gag>Cag	p.E836Q		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	836	Myosin tail. {ECO:0000255}.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GCGGCATCCTCTTGGAGGATG	0.627																																						uc002mkg.2		NaN																	0				ovary(2)|skin(1)	3						c.(2506-2508)GAG>CAG		myosin IF							33.0	38.0	36.0					19																	8591788		2111	4213	6324	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8591788C>G	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2506G>C	19.37:g.8591788C>G	ENSP00000344871:p.Glu836Gln						p.E836Q	NM_012335	NP_036467	O00160	MYO1F_HUMAN			23	2620	-			836					Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.2506G>C	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598588	0.66332	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	T	0.36157	1.27	5.83	5.83	0.93111	Myosin tail 2 (1);	0.000000	0.85682	D	0.000000	T	0.36193	0.0958	L	0.49350	1.555	0.80722	D	1	B	0.28258	0.205	B	0.32022	0.139	T	0.12682	-1.0538	10	0.10377	T	0.69	.	18.7541	0.91826	0.0:1.0:0.0:0.0	.	836	O00160	MYO1F_HUMAN	Q	881;836	ENSP00000344871:E836Q	ENSP00000304899:E881Q	E	-	1	0	MYO1F	8497788	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.029000	0.70895	2.775000	0.95449	0.650000	0.86243	GAG		0.627	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2				5	63	0	0	0	0.000602	0	5	63		
ZNF846	162993	broad.mit.edu	37	19	9868414	9868414	+	Missense_Mutation	SNP	C	C	T	rs375362777		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:9868414C>T	ENST00000397902.2	-	6	1752	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						CAGGCCTTTTCTCCAGTGTGA	0.438																																						uc002mmb.1		NaN																	0				ovary(1)	1						c.(1339-1341)GAA>AAA		zinc finger protein 846							83.0	94.0	90.0					19																	9868414		2143	4283	6426	SO:0001583	missense	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9868414C>T	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.1339G>A	19.37:g.9868414C>T	ENSP00000380999:p.Glu447Lys					ZNF846_uc010xky.1_Intron|ZNF846_uc010xkz.1_Intron|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_Missense_Mutation_p.E318K	p.E447K	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN			6	1870	-			447					A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	c.1339G>A	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	20.6	4.014324	0.75161	.	.	ENSG00000196605	ENST00000397902	T	0.24350	1.86	2.04	0.993	0.19825	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27967	0.0689	N	0.17379	0.485	0.25550	N	0.987097	D	0.89917	1.0	D	0.74348	0.983	T	0.14727	-1.0462	8	.	.	.	.	6.5613	0.22487	0.0:0.8382:0.0:0.1618	.	447	Q147U1	ZN846_HUMAN	K	447	ENSP00000380999:E447K	.	E	-	1	0	ZNF846	9729414	0.017000	0.18338	0.501000	0.27601	0.326000	0.28443	2.154000	0.42291	0.432000	0.26286	0.555000	0.69702	GAA		0.438	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1		NM_001077624		17	69	0	0	0	0.00499	0	17	69		
TYK2	7297	broad.mit.edu	37	19	10475384	10475384	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:10475384G>A	ENST00000525621.1	-	9	1754	c.1273C>T	c.(1273-1275)Cgc>Tgc	p.R425C	TYK2_ENST00000529370.1_Missense_Mutation_p.R425C|TYK2_ENST00000264818.6_Missense_Mutation_p.R425C|TYK2_ENST00000524462.1_Missense_Mutation_p.R240C	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	425	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCCGTCAGGCGGAAATAGCCG	0.672																																						uc002moc.3		NaN																	0				lung(5)|large_intestine(2)|ovary(1)|breast(1)	9						c.(1273-1275)CGC>TGC		tyrosine kinase 2							35.0	45.0	41.0					19																	10475384		2203	4300	6503	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10475384G>A		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.1273C>T	19.37:g.10475384G>A	ENSP00000431885:p.Arg425Cys					TYK2_uc010dxe.2_Missense_Mutation_p.R240C|TYK2_uc002mod.2_Missense_Mutation_p.R425C	p.R425C	NM_003331	NP_003322	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		9	1651	-			425			FERM.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.1273C>T	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084010	0.76642	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.24	2.82	0.32997	FERM domain (1);	0.000000	0.48286	D	0.000188	T	0.79924	0.4530	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.80801	-0.1220	10	0.87932	D	0	-33.8474	8.6308	0.33917	0.0:0.1314:0.6202:0.2484	.	425;425	E9PPF2;P29597	.;TYK2_HUMAN	C	240;425;425;172;425	ENSP00000433203:R240C;ENSP00000431885:R425C;ENSP00000264818:R425C;ENSP00000432728:R425C	ENSP00000264818:R425C	R	-	1	0	TYK2	10336384	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.011000	0.40922	1.168000	0.42723	0.471000	0.43371	CGC		0.672	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1				22	79	0	0	0	0.014323	0	22	79		
ARRDC2	27106	broad.mit.edu	37	19	18120728	18120728	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:18120728C>T	ENST00000222250.4	+	5	872	c.729C>T	c.(727-729)ctC>ctT	p.L243L	ARRDC2_ENST00000379656.3_Silent_p.L238L	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	243					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						TGGCCAGCCTCGCGGGCGAGC	0.716																																						uc002nhv.2		NaN																	0				pancreas(1)	1						c.(727-729)CTC>CTT		arrestin domain containing 2 isoform 1							14.0	19.0	17.0					19																	18120728		2181	4237	6418	SO:0001819	synonymous_variant	27106							g.chr19:18120728C>T		CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.729C>T	19.37:g.18120728C>T						ARRDC2_uc002nhu.2_Silent_p.L238L	p.L243L	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN			5	872	+			243					B2RBG9|O95895|Q6ZRV9|Q8WYG6	Silent	SNP	ENST00000222250.4	37	c.729C>T	CCDS12370.1																																																																																				0.716	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466845.1		NM_015683		8	96	0	0	0	0.00308	0	8	96		
ARHGAP33	115703	broad.mit.edu	37	19	36278974	36278974	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:36278974C>T	ENST00000007510.4	+	21	3651	c.3507C>T	c.(3505-3507)taC>taT	p.Y1169Y	AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000378944.5_Silent_p.Y1005Y|ARHGAP33_ENST00000314737.5_Silent_p.Y1008Y			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1169					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						AGCCCCTCTACGTCAACCTAG	0.682																																						uc002obs.1		NaN																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(3022-3024)TAC>TAT		sorting nexin 26							33.0	35.0	34.0					19																	36278974		2200	4298	6498	SO:0001819	synonymous_variant	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36278974C>T	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.3507C>T	19.37:g.36278974C>T						ARHGAP33_uc002obt.1_Silent_p.Y1005Y|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Silent_p.Y757Y	p.Y1008Y	NM_052948	NP_443180	O14559	RHG33_HUMAN			21	3109	+			1169					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Silent	SNP	ENST00000007510.4	37	c.3024C>T																																																																																					0.682	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding			NM_052948		15	80	0	0	0	0.003163	0	15	80		
LIPE	3991	broad.mit.edu	37	19	42910494	42910494	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:42910494C>T	ENST00000244289.4	-	7	2460	c.2184G>A	c.(2182-2184)ggG>ggA	p.G728G	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE_ENST00000602000.1_5'Flank|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	728					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				AGCAGAGGTTCCCGCCTGCAC	0.662																																						uc002otr.2		NaN																	0				ovary(1)|breast(1)	2						c.(2182-2184)GGG>GGA		hormone-sensitive lipase							55.0	54.0	55.0					19																	42910494		2203	4300	6503	SO:0001819	synonymous_variant	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42910494C>T	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.2184G>A	19.37:g.42910494C>T						uc010eif.1_Intron	p.G728G	NM_005357	NP_005348	Q05469	LIPS_HUMAN			7	2461	-		Prostate(69;0.00682)	728					Q3LRT2|Q6NSL7	Silent	SNP	ENST00000244289.4	37	c.2184G>A	CCDS12607.1																																																																																				0.662	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1		NM_005357		7	42	0	0	0	0.001984	0	7	42		
NKPD1	284353	broad.mit.edu	37	19	45656023	45656023	+	Missense_Mutation	SNP	G	G	A	rs546956095	byFrequency	TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:45656023G>A	ENST00000438936.2	-	3	1217	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	NKPD1_ENST00000317951.4_Missense_Mutation_p.R558C|NKPD1_ENST00000429338.1_Missense_Mutation_p.R336C|AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000589776.1_Missense_Mutation_p.R336C			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	336	KAP NTPase.			R -> H (in Ref. 1; BAC03547). {ECO:0000305}.		integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CACGGCTTGCGCGTCATCTCG	0.721													G|||	2	0.000399361	0.0	0.0	5008	,	,		14433	0.002		0.0	False		,,,				2504	0.0					uc010xxi.1		NaN																	0					0						c.(1672-1674)CGC>TGC		NTPase, KAP family P-loop domain containing 1							7.0	8.0	8.0					19																	45656023		1838	3895	5733	SO:0001583	missense	284353							g.chr19:45656023G>A	AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.1006C>T	19.37:g.45656023G>A	ENSP00000401739:p.Arg336Cys						p.R558C	NM_198478	NP_940880				OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)	4	1672	-		Ovarian(192;0.0728)|all_neural(266;0.112)						B7ZLG6|D6RH15|Q8N2A2	Missense_Mutation	SNP	ENST00000438936.2	37	c.1672C>T		.	.	.	.	.	.	.	.	.	.	G	12.92	2.081015	0.36758	.	.	ENSG00000179846	ENST00000317951;ENST00000438936;ENST00000429338	T;T;T	0.31769	1.48;1.48;1.48	5.4	3.2	0.36748	KAP P-loop (1);	0.864077	0.10432	N	0.675367	T	0.31606	0.0802	L	0.36672	1.1	0.34757	D	0.732339	D	0.58620	0.983	P	0.48227	0.571	T	0.35847	-0.9772	10	0.56958	D	0.05	-12.2815	9.982	0.41819	0.0:0.1456:0.6929:0.1615	.	336	Q17RQ9	NKPD1_HUMAN	C	558;336;336	ENSP00000321976:R558C;ENSP00000401739:R336C;ENSP00000404706:R336C	ENSP00000321976:R558C	R	-	1	0	NKPD1	50347863	0.019000	0.18553	0.992000	0.48379	0.113000	0.19764	0.533000	0.23082	0.594000	0.29761	-0.502000	0.04539	CGC		0.721	NKPD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000360950.2		NM_198478		5	16	0	0	0	0.001168	0	5	16		
CCDC9	26093	broad.mit.edu	37	19	47773835	47773835	+	Silent	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:47773835G>A	ENST00000221922.6	+	10	1197	c.975G>A	c.(973-975)ccG>ccA	p.P325P		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	325							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CCCGGCCCCCGAAGCCCCCTA	0.642																																						uc010xym.1		NaN																	0					0						c.(973-975)CCG>CCA		coiled-coil domain containing 9							50.0	58.0	55.0					19																	47773835		2203	4300	6503	SO:0001819	synonymous_variant	26093							g.chr19:47773835G>A	AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.975G>A	19.37:g.47773835G>A							p.P325P	NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)	10	1182	+		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)	325						Silent	SNP	ENST00000221922.6	37	c.975G>A	CCDS12698.1																																																																																				0.642	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1		NM_015603		9	109	0	0	0	0.010729	0	9	109		
SIGLEC9	27180	broad.mit.edu	37	19	51628543	51628543	+	Silent	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:51628543G>A	ENST00000250360.3	+	1	379	c.312G>A	c.(310-312)ctG>ctA	p.L104L	SIGLEC9_ENST00000440804.3_Silent_p.L104L	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	104	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ATTGCACCCTGAGCATCAGAG	0.507																																						uc002pvu.2		NaN																	0				skin(1)	1						c.(310-312)CTG>CTA		sialic acid binding Ig-like lectin 9 precursor							103.0	96.0	98.0					19																	51628543		2203	4300	6503	SO:0001819	synonymous_variant	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51628543G>A	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.312G>A	19.37:g.51628543G>A						SIGLEC9_uc010yct.1_Silent_p.L104L	p.L104L	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	1	379	+		all_neural(266;0.0529)	104			Extracellular (Potential).|Ig-like V-type.		Q6GTU4|Q9BYI9	Silent	SNP	ENST00000250360.3	37	c.312G>A	CCDS12825.1																																																																																				0.507	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1		NM_014441		19	115	0	0	0	0.006122	0	19	115		
ZNF524	147807	broad.mit.edu	37	19	56113573	56113573	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:56113573G>A	ENST00000591046.1	+	1	329	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	FIZ1_ENST00000592585.1_5'Flank|ZNF524_ENST00000301073.3_Missense_Mutation_p.R32Q|FIZ1_ENST00000221665.3_5'Flank			Q96C55	ZN524_HUMAN	zinc finger protein 524	32					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)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGGGGCCGCCGAGGCCGTCGT	0.682																																						uc002qlk.1		NaN																	0					0						c.(94-96)CGA>CAA		zinc finger protein 524							17.0	20.0	19.0					19																	56113573		2202	4296	6498	SO:0001583	missense	147807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56113573G>A	BC014666	CCDS12929.1	19q13.43	2013-01-08				ENSG00000171443		"""Zinc fingers, C2H2-type"""	28322	protein-coding gene	gene with protein product						12477932	Standard	NM_153219		Approved	MGC23143	uc002qlk.1	Q96C55		ENST00000591046.1:c.95G>A	19.37:g.56113573G>A	ENSP00000466907:p.Arg32Gln					FIZ1_uc002qli.3_5'Flank|FIZ1_uc002qlj.3_5'Flank	p.R32Q	NM_153219	NP_694951	Q96C55	ZN524_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	2	178	+			32					Q6NW31|Q96IL7	Missense_Mutation	SNP	ENST00000591046.1	37	c.95G>A	CCDS12929.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263511	0.59431	.	.	ENSG00000171443	ENST00000301073	T	0.05580	3.42	3.4	3.4	0.38934	.	.	.	.	.	T	0.10852	0.0265	N	0.19112	0.55	0.30784	N	0.741718	D	0.76494	0.999	P	0.62184	0.899	T	0.04767	-1.0928	9	0.87932	D	0	.	10.4975	0.44785	0.0:0.0:1.0:0.0	.	32	Q96C55	ZN524_HUMAN	Q	32	ENSP00000301073:R32Q	ENSP00000301073:R32Q	R	+	2	0	ZNF524	60805385	0.000000	0.05858	0.980000	0.43619	0.962000	0.63368	0.160000	0.16462	1.899000	0.54978	0.491000	0.48974	CGA		0.682	ZNF524-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457938.1		NM_153219		8	45	0	0	0	0.00308	0	8	45		
PEG3	5178	broad.mit.edu	37	19	57335705	57335705	+	Silent	SNP	G	G	T	rs141346770	byFrequency	TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:57335705G>T	ENST00000326441.9	-	4	682	c.319C>A	c.(319-321)Cga>Aga	p.R107R	ZIM2_ENST00000221722.5_5'UTR|PEG3_ENST00000594706.1_5'UTR|ZIM2_ENST00000599935.1_5'UTR|ZIM2_ENST00000593711.1_5'UTR|PEG3_ENST00000423103.2_Silent_p.R107R|PEG3_ENST00000593695.1_5'UTR|ZIM2_ENST00000601070.1_5'UTR|ZIM2_ENST00000593931.1_5'Flank|ZIM2_ENST00000391708.3_5'UTR|PEG3_ENST00000598410.1_5'UTR	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	107	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTTTTGCTCGCACCCAAGGC	0.537																																						uc002qnu.2		NaN																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(319-321)CGA>AGA		paternally expressed 3 isoform 1							96.0	91.0	93.0					19																	57335705		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57335705G>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.319C>A	19.37:g.57335705G>T						ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_5'UTR|ZIM2_uc002qnq.2_5'UTR|ZIM2_uc010etp.2_5'UTR|ZIM2_uc010ygs.1_5'UTR|PEG3_uc002qnt.2_Silent_p.R107R|PEG3_uc002qnv.2_Silent_p.R107R|PEG3_uc002qnw.2_5'UTR|PEG3_uc002qnx.2_5'UTR|PEG3_uc010etr.2_Silent_p.R107R	p.R107R	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	1	670	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	107			SCAN box.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.319C>A	CCDS12948.1																																																																																				0.537	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2				13	154	1	0	0.00136819	0.013537	0.00140804	13	154		
ZNF551	90233	broad.mit.edu	37	19	58198725	58198725	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:58198725G>A	ENST00000282296.5	+	3	1267	c.1082G>A	c.(1081-1083)aGg>aAg	p.R361K	ZNF551_ENST00000356715.4_Missense_Mutation_p.R345K|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	361					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ACTGGAGAAAGGCCTTATGAA	0.468																																						uc002qpw.3		NaN																	0				ovary(1)	1						c.(1033-1035)AGG>AAG		zinc finger protein 551							74.0	74.0	74.0					19																	58198725		2203	4300	6503	SO:0001583	missense	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58198725G>A	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1082G>A	19.37:g.58198725G>A	ENSP00000282296:p.Arg361Lys					ZNF551_uc002qpv.3_Missense_Mutation_p.R288K|ZNF776_uc002qpx.2_Intron	p.R345K	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1257	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	361					B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	c.1034G>A	CCDS12959.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.23|13.23	2.175934|2.175934	0.38413|0.38413	.|.	.|.	ENSG00000228006|ENSG00000204519	ENST00000541705|ENST00000356715;ENST00000282296;ENST00000359821	.|.	.|.	.|.	2.58|2.58	1.53|1.53	0.23141|0.23141	.|Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.591665|.	0.13564|.	N|.	0.378565|.	T|T	0.06325|0.06325	0.0163|0.0163	N|N	0.00801|0.00801	-1.175|-1.175	0.24770|0.24770	N|N	0.99287|0.99287	.|P	.|0.40578	.|0.722	.|B	.|0.41946	.|0.371	T|T	0.21930|0.21930	-1.0231|-1.0231	7|8	0.13108|0.02654	T|T	0.6|1	.|.	3.5169|3.5169	0.07728|0.07728	0.436:0.0:0.564:0.0|0.436:0.0:0.564:0.0	.|.	.|361	.|Q7Z340	.|ZN551_HUMAN	L|K	227|361;345;144	.|.	ENSP00000437781:P227L|ENSP00000282296:R345K	P|R	-|+	2|2	0|0	AC004017.1|ZNF551	62890537|62890537	0.000000|0.000000	0.05858|0.05858	0.014000|0.014000	0.15608|0.15608	0.167000|0.167000	0.22549|0.22549	-0.038000|-0.038000	0.12144|0.12144	1.424000|1.424000	0.47217|0.47217	0.561000|0.561000	0.74099|0.74099	CCT|AGG		0.468	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2		NM_138347		11	141	0	0	0	0.010729	0	11	141		
ZNF329	79673	broad.mit.edu	37	19	58639742	58639742	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:58639742C>T	ENST00000598312.1	-	4	1362	c.1129G>A	c.(1129-1131)Ggg>Agg	p.G377R	ZNF329_ENST00000358067.4_Missense_Mutation_p.G377R	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	377					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)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		AAGGATTTCCCGCACTCTGCA	0.478																																						uc002qrn.2		NaN																	0				skin(1)	1						c.(1129-1131)GGG>AGG		zinc finger protein 329							92.0	85.0	87.0					19																	58639742		2203	4300	6503	SO:0001583	missense	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58639742C>T	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.1129G>A	19.37:g.58639742C>T	ENSP00000470008:p.Gly377Arg					ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	p.G377R	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	1366	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	377			C2H2-type 7.		B3KR32|Q9H9R7	Missense_Mutation	SNP	ENST00000598312.1	37	c.1129G>A	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777015	0.70107	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.07444	3.19;3.19	4.31	4.31	0.51392	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39615	N	0.001312	T	0.31544	0.0800	M	0.81682	2.555	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.07233	-1.0783	10	0.72032	D	0.01	-15.6668	16.7502	0.85483	0.0:1.0:0.0:0.0	.	377	Q86UD4	ZN329_HUMAN	R	377	ENSP00000350773:G377R;ENSP00000439527:G377R	ENSP00000350773:G377R	G	-	1	0	ZNF329	63331554	0.993000	0.37304	0.998000	0.56505	0.969000	0.65631	4.550000	0.60733	2.691000	0.91804	0.655000	0.94253	GGG		0.478	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1		NM_024620		12	137	0	0	0	0.013537	0	12	137		
TRIB2	28951	broad.mit.edu	37	2	12863643	12863643	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:12863643C>T	ENST00000405331.3	+	2	598	c.528C>T	c.(526-528)ctC>ctT	p.L176L	TRIB2_ENST00000155926.4_Silent_p.L176L|TRIB2_ENST00000381465.2_Silent_p.L40L					tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGCGGGACCTCAAGCTGCGGA	0.562																																						uc002rbv.3		NaN																	0				stomach(1)	1						c.(526-528)CTC>CTT		tribbles homolog 2							51.0	55.0	53.0					2																	12863643		2203	4300	6503	SO:0001819	synonymous_variant	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12863643C>T	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000405331.3:c.528C>T	2.37:g.12863643C>T						TRIB2_uc010yjp.1_Silent_p.L40L	p.L176L	NM_021643	NP_067675	Q92519	TRIB2_HUMAN			2	1964	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		176			Protein kinase.			Silent	SNP	ENST00000405331.3	37	c.528C>T																																																																																					0.562	TRIB2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000323585.1		NM_021643		12	89	0	0	0	0.013537	0	12	89		
APOB	338	broad.mit.edu	37	2	21229266	21229266	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:21229266T>A	ENST00000233242.1	-	26	10601	c.10474A>T	c.(10474-10476)Att>Ttt	p.I3492F		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3492	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGACTCAATGGAAAAGTAA	0.418																																						uc002red.2		NaN																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(10474-10476)ATT>TTT		apolipoprotein B precursor	Atorvastatin(DB01076)						86.0	87.0	87.0					2																	21229266		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21229266T>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10474A>T	2.37:g.21229266T>A	ENSP00000233242:p.Ile3492Phe						p.I3492F	NM_000384	NP_000375	P04114	APOB_HUMAN			26	10602	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3492			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.10474A>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.287012	0.59867	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.80033	-1.33	5.74	3.37	0.38596	.	0.324668	0.26623	N	0.023350	D	0.83179	0.5198	M	0.73962	2.25	0.80722	D	1	P	0.50943	0.94	P	0.54759	0.76	T	0.82198	-0.0576	10	0.72032	D	0.01	.	4.7042	0.12841	0.0:0.1473:0.1836:0.669	.	3492	P04114	APOB_HUMAN	F	3492	ENSP00000233242:I3492F	ENSP00000233242:I3492F	I	-	1	0	APOB	21082771	0.010000	0.17322	1.000000	0.80357	0.980000	0.70556	0.049000	0.14099	0.975000	0.38392	0.533000	0.62120	ATT		0.418	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1				19	83	0	0	0	0.006122	0	19	83		
KRTCAP3	200634	broad.mit.edu	37	2	27665507	27665507	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:27665507C>T	ENST00000543753.1	+	2	137	c.90C>T	c.(88-90)caC>caT	p.H30H	KRTCAP3_ENST00000407293.1_Silent_p.H12H|KRTCAP3_ENST00000288873.3_Silent_p.H30H	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	30						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					TGGTGGGCCACGTGAACCTGC	0.711																																						uc002rks.2		NaN																	0					0						c.(88-90)CAC>CAT		keratinocyte associated protein 3							12.0	14.0	13.0					2																	27665507		2191	4286	6477	SO:0001819	synonymous_variant	200634					integral to membrane		g.chr2:27665507C>T	AY157576	CCDS1754.1	2p23.3	2008-02-05			ENSG00000157992	ENSG00000157992			28943	protein-coding gene	gene with protein product							Standard	NM_173853		Approved	KCP3	uc002rks.3	Q53RY4	OTTHUMG00000097782	ENST00000543753.1:c.90C>T	2.37:g.27665507C>T						KRTCAP3_uc010ylr.1_Silent_p.H30H|KRTCAP3_uc002rkt.2_Silent_p.H12H	p.H30H	NM_173853	NP_776252	Q53RY4	KCP3_HUMAN			2	107	+	Acute lymphoblastic leukemia(172;0.155)		30			Helical; (Potential).		B7ZL49|Q6UW42|Q8IWS5	Silent	SNP	ENST00000543753.1	37	c.90C>T	CCDS1754.1																																																																																				0.711	KRTCAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215025.1		NM_173853		6	27	0	0	0	0.001168	0	6	27		
FAM179A	165186	broad.mit.edu	37	2	29268244	29268244	+	Missense_Mutation	SNP	G	G	A	rs150801790	byFrequency	TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:29268244G>A	ENST00000379558.4	+	19	3041	c.2690G>A	c.(2689-2691)cGt>cAt	p.R897H	FAM179A_ENST00000403861.2_Missense_Mutation_p.R842H|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	897										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGAGTGGCCGTGCGGTGCTG	0.612													g|||	2	0.000399361	0.0	0.0	5008	,	,		12732	0.0		0.001	False		,,,				2504	0.001					uc010ezl.2		NaN																	0				ovary(3)|skin(1)	4						c.(2689-2691)CGT>CAT		hypothetical protein LOC165186							99.0	97.0	98.0					2																	29268244		2203	4300	6503	SO:0001583	missense	165186						binding	g.chr2:29268244G>A	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2690G>A	2.37:g.29268244G>A	ENSP00000368876:p.Arg897His					FAM179A_uc010ymm.1_Missense_Mutation_p.R842H|FAM179A_uc002rmr.3_Missense_Mutation_p.R424H|FAM179A_uc002rms.1_Missense_Mutation_p.R195H	p.R897H	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN			19	3041	+			897					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.2690G>A	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	g	15.67	2.902180	0.52227	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.14391	2.51;2.51	5.33	2.55	0.30701	Armadillo-type fold (1);	0.303685	0.29059	N	0.013275	T	0.24275	0.0588	L	0.49126	1.545	0.21740	N	0.999565	D;B;D	0.89917	1.0;0.02;1.0	P;B;D	0.65773	0.897;0.004;0.938	T	0.03231	-1.1058	10	0.54805	T	0.06	.	6.8779	0.24156	0.2164:0.1323:0.6512:0.0	.	842;897;195	F8W8E4;Q6ZUX3;Q6ZUX3-3	.;F179A_HUMAN;.	H	897;842	ENSP00000368876:R897H;ENSP00000384699:R842H	ENSP00000368876:R897H	R	+	2	0	FAM179A	29121748	0.412000	0.25392	0.490000	0.27465	0.456000	0.32438	0.564000	0.23563	0.379000	0.24794	-0.215000	0.12644	CGT		0.612	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4		NM_199280		19	102	0	0	0	0.010504	0	19	102		
NLRC4	58484	broad.mit.edu	37	2	32476278	32476278	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:32476278G>C	ENST00000404025.2	-	5	1143	c.655C>G	c.(655-657)Caa>Gaa	p.Q219E	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.Q219E|NLRC4_ENST00000360906.5_Missense_Mutation_p.Q219E			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	219	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCCAGGAGTTGATCACAGAGG	0.517																																						uc002roi.2		NaN																	0				ovary(3)|large_intestine(1)|lung(1)|skin(1)	6						c.(655-657)CAA>GAA		caspase recruitment domain protein 12							70.0	74.0	72.0					2																	32476278		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32476278G>C	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.655C>G	2.37:g.32476278G>C	ENSP00000385090:p.Gln219Glu					NLRC4_uc002roj.1_Missense_Mutation_p.Q219E|NLRC4_uc010ezt.1_Intron	p.Q219E	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN			4	901	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		219			NACHT.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.655C>G	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	G	7.844	0.722516	0.15439	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.79247	-1.25;-1.25;-1.25	3.27	2.27	0.28462	NACHT nucleoside triphosphatase (1);	0.000000	0.46145	D	0.000303	D	0.82774	0.5110	L	0.54323	1.7	0.30029	N	0.813684	D	0.57257	0.979	D	0.71414	0.973	D	0.87163	0.2216	9	0.87932	D	0	-9.7894	11.0522	0.47896	0.0:0.0:0.8143:0.1857	.	219	Q9NPP4	NLRC4_HUMAN	E	219	ENSP00000354159:Q219E;ENSP00000385428:Q219E;ENSP00000385090:Q219E	ENSP00000354159:Q219E	Q	-	1	0	NLRC4	32329782	1.000000	0.71417	0.032000	0.17829	0.142000	0.21351	3.633000	0.54295	1.836000	0.53414	0.543000	0.68304	CAA		0.517	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2		NM_021209		15	71	0	0	0	0.00245	0	15	71		
CCDC88A	55704	broad.mit.edu	37	2	55566659	55566659	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:55566659C>G	ENST00000436346.1	-	13	2300	c.1459G>C	c.(1459-1461)Gaa>Caa	p.E487Q	AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E487Q|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E487Q|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E487Q|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	487					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						GCATTGCCTTCTACAGAATCC	0.323																																						uc002ryv.2		NaN																	0				ovary(2)|skin(2)	4						c.(1459-1461)GAA>CAA		coiled-coil domain containing 88A isoform 1							94.0	90.0	92.0					2																	55566659		2203	4300	6503	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55566659C>G	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1459G>C	2.37:g.55566659C>G	ENSP00000410608:p.Glu487Gln					CCDC88A_uc010yoz.1_Missense_Mutation_p.E487Q|CCDC88A_uc010ypa.1_Missense_Mutation_p.E487Q|CCDC88A_uc010ypb.1_Missense_Mutation_p.E389Q	p.E487Q	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			13	2301	-			487			Potential.		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.1459G>C		.	.	.	.	.	.	.	.	.	.	C	14.84	2.654190	0.47362	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	4.93	4.93	0.64822	.	0.276343	0.25101	U	0.033138	T	0.26195	0.0639	L	0.53561	1.675	0.80722	D	1	B;B;B	0.14438	0.01;0.002;0.001	B;B;B	0.22386	0.039;0.002;0.004	T	0.04320	-1.0960	10	0.48119	T	0.1	-4.9447	18.144	0.89649	0.0:1.0:0.0:0.0	.	487;487;487	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	Q	487	ENSP00000338728:E487Q;ENSP00000263630:E487Q;ENSP00000410608:E487Q;ENSP00000404431:E487Q	ENSP00000263630:E487Q	E	-	1	0	CCDC88A	55420163	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.291000	0.78721	2.274000	0.75844	0.585000	0.79938	GAA		0.323	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding			NM_017571		5	61	0	0	0	0.000602	0	5	61		
HK2	3099	broad.mit.edu	37	2	75116424	75116424	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:75116424G>C	ENST00000290573.2	+	17	3028	c.2428G>C	c.(2428-2430)Gag>Cag	p.E810Q	HK2_ENST00000409174.1_Missense_Mutation_p.E782Q	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	810	Catalytic.|Hexokinase type-2 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CTTAGGGCTTGAGAGCACCTG	0.617																																						uc002snd.2		NaN																	0				ovary(1)|lung(1)	2						c.(2428-2430)GAG>CAG		hexokinase 2							92.0	66.0	75.0					2																	75116424		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75116424G>C		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2428G>C	2.37:g.75116424G>C	ENSP00000290573:p.Glu810Gln						p.E810Q	NM_000189	NP_000180	P52789	HXK2_HUMAN			17	4354	+			810			Catalytic.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.2428G>C	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.770767	0.31320	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.98207	-4.79;-4.79	4.56	3.68	0.42216	Hexokinase, C-terminal (1);	0.419784	0.29113	N	0.013120	D	0.94892	0.8349	L	0.35341	1.055	0.29330	N	0.866732	B	0.28760	0.221	B	0.32090	0.14	D	0.90813	0.4703	10	0.33141	T	0.24	-25.171	6.9312	0.24442	0.2047:0.0:0.7953:0.0	.	810	P52789	HXK2_HUMAN	Q	810;810;782	ENSP00000290573:E810Q;ENSP00000387140:E782Q	ENSP00000290573:E810Q	E	+	1	0	HK2	74969932	0.987000	0.35691	0.960000	0.40013	0.959000	0.62525	2.070000	0.41491	1.278000	0.44430	0.561000	0.74099	GAG		0.617	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2		NM_000189		8	44	0	0	0	0.004482	0	8	44		
REG1A	5967	broad.mit.edu	37	2	79348757	79348757	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:79348757C>T	ENST00000233735.1	+	3	237	c.134C>T	c.(133-135)tCc>tTc	p.S45F		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	45	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GCCTATCGCTCCTACTGCTAC	0.542																																						uc002snz.2		NaN																	0					0						c.(133-135)TCC>TTC		regenerating islet-derived 1 alpha precursor							175.0	172.0	173.0					2																	79348757		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79348757C>T		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.134C>T	2.37:g.79348757C>T	ENSP00000233735:p.Ser45Phe					REG1A_uc010ffx.1_Missense_Mutation_p.S45F|REG1A_uc010ysd.1_Missense_Mutation_p.S45F	p.S45F	NM_002909	NP_002900	P05451	REG1A_HUMAN			3	237	+			45			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.134C>T	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	c	18.30	3.593360	0.66219	.	.	ENSG00000115386	ENST00000233735	T	0.08984	3.03	2.85	2.85	0.33270	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.38778	N	0.001577	T	0.34629	0.0904	H	0.94503	3.545	0.24037	N	0.996095	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.993	T	0.15983	-1.0418	10	0.72032	D	0.01	.	9.368	0.38237	0.0:1.0:0.0:0.0	.	45;45	A8K7G6;P05451	.;REG1A_HUMAN	F	45	ENSP00000233735:S45F	ENSP00000233735:S45F	S	+	2	0	REG1A	79202265	0.008000	0.16893	0.492000	0.27490	0.675000	0.39556	0.954000	0.29175	1.892000	0.54788	0.563000	0.77884	TCC		0.542	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1		NM_002909		10	480	0	0	0	0.006214	0	10	480		
VWA3B	200403	broad.mit.edu	37	2	98804557	98804557	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:98804557G>C	ENST00000477737.1	+	10	1635	c.1431G>C	c.(1429-1431)gaG>gaC	p.E477D	VWA3B_ENST00000435344.1_Missense_Mutation_p.E477D|VWA3B_ENST00000451075.2_Missense_Mutation_p.E327D	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	477										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GGTACAGTGAGAGAATCCACA	0.502																																						uc002syo.2		NaN																	0				ovary(3)|large_intestine(2)|skin(1)	6						c.(1429-1431)GAG>GAC		von Willebrand factor A domain containing 3B							128.0	135.0	133.0					2																	98804557		2007	4168	6175	SO:0001583	missense	200403							g.chr2:98804557G>C	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.1431G>C	2.37:g.98804557G>C	ENSP00000417955:p.Glu477Asp					VWA3B_uc010yvh.1_Missense_Mutation_p.E327D|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_Intron|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.2_Missense_Mutation_p.E477D|VWA3B_uc002syn.1_Intron|VWA3B_uc010yvi.1_Missense_Mutation_p.E134D	p.E477D	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			10	1695	+			477					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.1431G>C	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	2.064	-0.414755	0.04766	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.24723	1.84;3.24;2.42	4.76	1.94	0.25998	.	0.104897	0.41097	N	0.000954	T	0.23370	0.0565	L	0.59436	1.845	0.21579	N	0.999639	B;B;B	0.30104	0.007;0.061;0.268	B;B;B	0.33799	0.005;0.036;0.17	T	0.15407	-1.0438	10	0.31617	T	0.26	.	7.2294	0.26034	0.2301:0.1323:0.6377:0.0	.	327;477;477	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	D	477;477;327	ENSP00000401959:E477D;ENSP00000417955:E477D;ENSP00000389463:E327D	ENSP00000388158:E477D	E	+	3	2	VWA3B	98170989	1.000000	0.71417	0.618000	0.29105	0.038000	0.13279	0.509000	0.22707	0.176000	0.19873	-2.042000	0.00416	GAG		0.502	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2		NM_144992		20	95	0	0	0	0.010504	0	20	95		
LONRF2	164832	broad.mit.edu	37	2	100903525	100903525	+	Splice_Site	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:100903525C>T	ENST00000393437.3	-	11	2560	c.1921G>A	c.(1921-1923)Gtg>Atg	p.V641M	LONRF2_ENST00000409647.1_Splice_Site_p.V398M	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	641	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GGACCCTCCACCTGATCAGGG	0.507																																						uc002tal.3		NaN																	0				large_intestine(1)|skin(1)	2						c.(1921-1923)GTG>ATG		LON peptidase N-terminal domain and ring finger							78.0	56.0	64.0					2																	100903525		2203	4300	6503	SO:0001630	splice_region_variant	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100903525C>T	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1921-1G>A	2.37:g.100903525C>T						LONRF2_uc010yvs.1_RNA	p.V641M	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN			11	2561	-			641			Lon.		B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	37	c.1921G>A	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233265	0.79688	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	D;D	0.86230	-1.94;-2.09	4.95	4.95	0.65309	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.064498	0.64402	D	0.000008	D	0.92189	0.7523	L	0.60957	1.885	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.92626	0.6112	10	0.56958	D	0.05	-14.6194	18.2043	0.89850	0.0:1.0:0.0:0.0	.	641	Q1L5Z9	LONF2_HUMAN	M	641;398	ENSP00000377086:V641M;ENSP00000386823:V398M	ENSP00000377086:V641M	V	-	1	0	LONRF2	100269957	1.000000	0.71417	0.938000	0.37757	0.477000	0.33069	5.703000	0.68340	2.288000	0.76882	0.655000	0.94253	GTG		0.507	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2		NM_198461	Missense_Mutation	5	41	0	0	0	0.001168	0	5	41		
BUB1	699	broad.mit.edu	37	2	111408235	111408235	+	Silent	SNP	A	A	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:111408235A>G	ENST00000302759.6	-	18	2209	c.2091T>C	c.(2089-2091)gcT>gcC	p.A697A	BUB1_ENST00000535254.1_Silent_p.A677A|BUB1_ENST00000409311.1_Silent_p.A697A	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	697					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGAGTCTGCAAGCCTCAACGC	0.537																																						uc002tgc.2		NaN																	0				lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7						c.(2089-2091)GCT>GCC		budding uninhibited by benzimidazoles 1							107.0	76.0	87.0					2																	111408235		2203	4300	6503	SO:0001819	synonymous_variant	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111408235A>G	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.2091T>C	2.37:g.111408235A>G						BUB1_uc010yxh.1_Silent_p.A677A|BUB1_uc010fkb.2_Silent_p.A697A	p.A697A	NM_004336	NP_004327	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	18	2203	-		Ovarian(717;0.0822)	697					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Silent	SNP	ENST00000302759.6	37	c.2091T>C	CCDS33273.1																																																																																				0.537	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1		NM_004336		4	39	0	0	0	0.009096	0	4	39		
BUB1	699	broad.mit.edu	37	2	111408294	111408294	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:111408294G>C	ENST00000302759.6	-	18	2150	c.2032C>G	c.(2032-2034)Ctg>Gtg	p.L678V	BUB1_ENST00000535254.1_Missense_Mutation_p.L658V|BUB1_ENST00000409311.1_Missense_Mutation_p.L678V	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	678					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GGCTGGCTCAGACGAAGTAAG	0.502																																						uc002tgc.2		NaN																	0				lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7						c.(2032-2034)CTG>GTG		budding uninhibited by benzimidazoles 1							84.0	73.0	77.0					2																	111408294		2203	4300	6503	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111408294G>C	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.2032C>G	2.37:g.111408294G>C	ENSP00000302530:p.Leu678Val					BUB1_uc010yxh.1_Missense_Mutation_p.L658V|BUB1_uc010fkb.2_Missense_Mutation_p.L678V	p.L678V	NM_004336	NP_004327	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	18	2144	-		Ovarian(717;0.0822)	678					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.2032C>G	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	G	4.533	0.098928	0.08681	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.30714	2.27;1.52;2.53	5.12	-3.36	0.04913	.	3.060610	0.00678	N	0.000671	T	0.15392	0.0371	N	0.16478	0.41	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.07829	-1.0752	10	0.16896	T	0.51	3.3401	1.9258	0.03316	0.2604:0.3937:0.2124:0.1334	.	658;678;678	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	V	658;678;678;678	ENSP00000441013:L658V;ENSP00000386701:L678V;ENSP00000302530:L678V	ENSP00000302530:L678V	L	-	1	2	BUB1	111124766	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.518000	0.06267	-0.506000	0.06558	0.650000	0.86243	CTG		0.502	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1		NM_004336		3	48	0	0	0	0.004672	0	3	48		
CNTNAP5	129684	broad.mit.edu	37	2	125671724	125671724	+	Silent	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:125671724G>C	ENST00000431078.1	+	24	4144	c.3780G>C	c.(3778-3780)cgG>cgC	p.R1260R		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1260					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCATGACCCGGTTCCTCTACC	0.453																																						uc002tno.2		NaN																	0				ovary(10)	10						c.(3778-3780)CGG>CGC		contactin associated protein-like 5 precursor							175.0	166.0	169.0					2																	125671724		1968	4175	6143	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125671724G>C	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3780G>C	2.37:g.125671724G>C						CNTNAP5_uc010flu.2_Silent_p.R1261R	p.R1260R	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	24	4144	+			1260			Cytoplasmic (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.3780G>C	CCDS46401.1																																																																																				0.453	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3				8	160	0	0	0	0.004482	0	8	160		
SAP130	79595	broad.mit.edu	37	2	128767935	128767935	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:128767935G>C	ENST00000259235.3	-	7	984	c.855C>G	c.(853-855)atC>atG	p.I285M	SAP130_ENST00000259234.6_Missense_Mutation_p.I259M|SAP130_ENST00000357702.5_Missense_Mutation_p.I285M	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	285					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CAGCAGGAGGGATGGCATTGG	0.448																																						uc002tpp.2		NaN																	0				ovary(2)|skin(2)	4						c.(853-855)ATC>ATG		Sin3A-associated protein, 130kDa isoform b							116.0	104.0	108.0					2																	128767935		2203	4300	6503	SO:0001583	missense	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128767935G>C	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.855C>G	2.37:g.128767935G>C	ENSP00000259235:p.Ile285Met					SAP130_uc002tpn.2_Missense_Mutation_p.I46M|SAP130_uc002tpo.2_Missense_Mutation_p.I30M|SAP130_uc010fmd.2_Missense_Mutation_p.I285M|SAP130_uc002tpq.1_Missense_Mutation_p.I259M	p.I285M	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	7	987	-	Colorectal(110;0.1)		285					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	c.855C>G	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524415	0.44969	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234;ENST00000424298	.	.	.	5.56	5.56	0.83823	.	0.056004	0.85682	D	0.000000	T	0.47875	0.1469	N	0.14661	0.345	0.41705	D	0.989424	B;D;D	0.59357	0.138;0.985;0.985	B;P;P	0.58391	0.055;0.838;0.838	T	0.43327	-0.9398	9	0.32370	T	0.25	-24.1837	9.7574	0.40510	0.1582:0.0:0.8418:0.0	.	285;259;285	B7ZLM3;Q96DP1;Q9H0E3	.;.;SP130_HUMAN	M	285;285;259;259	.	ENSP00000259234:I259M	I	-	3	3	SAP130	128484405	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.224000	0.32539	2.635000	0.89317	0.467000	0.42956	ATC		0.448	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3		NM_024545		4	94	0	0	0	0.009096	0	4	94		
XIRP2	129446	broad.mit.edu	37	2	168101899	168101899	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:168101899G>C	ENST00000409195.1	+	9	4086	c.3997G>C	c.(3997-3999)Gaa>Caa	p.E1333Q	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1333Q|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1111Q|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1158					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTCCTATCATGAAGTGACCAC	0.383																																						uc002udx.2		NaN																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(3997-3999)GAA>CAA		xin actin-binding repeat containing 2 isoform 1							82.0	75.0	77.0					2																	168101899		1858	4103	5961	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168101899G>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3997G>C	2.37:g.168101899G>C	ENSP00000386840:p.Glu1333Gln					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E1158Q|XIRP2_uc010fpq.2_Missense_Mutation_p.E1111Q|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.E1333Q	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	4015	+			1158					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.3997G>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300798	0.60195	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.10668	2.88;2.88;2.85	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.35364	0.0929	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	T	0.01945	-1.1242	10	0.87932	D	0	-22.6018	18.7832	0.91942	0.0:0.0:1.0:0.0	.	1158;1158;1111	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Q	1333;1333;1111	ENSP00000386840:E1333Q;ENSP00000295237:E1333Q;ENSP00000387255:E1111Q	ENSP00000295237:E1333Q	E	+	1	0	XIRP2	167810145	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	9.455000	0.97625	2.744000	0.94065	0.563000	0.77884	GAA		0.383	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1		NM_152381		10	60	0	0	0	0.006214	0	10	60		
LRP2	4036	broad.mit.edu	37	2	170055326	170055326	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:170055326C>G	ENST00000263816.3	-	45	8833	c.8548G>C	c.(8548-8550)Gat>Cat	p.D2850H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2850	LDL-receptor class A 19. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TCACTGTTATCTCCACAGTCA	0.378																																						uc002ues.2		NaN																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(8548-8550)GAT>CAT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						152.0	139.0	143.0					2																	170055326		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170055326C>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8548G>C	2.37:g.170055326C>G	ENSP00000263816:p.Asp2850His						p.D2850H	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	45	8761	-			2850			LDL-receptor class A 19.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.8548G>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	32	5.147477	0.94603	.	.	ENSG00000081479	ENST00000263816	D	0.97620	-4.46	5.96	5.96	0.96718	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99099	0.9690	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99038	1.0823	10	0.87932	D	0	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	2850	P98164	LRP2_HUMAN	H	2850	ENSP00000263816:D2850H	ENSP00000263816:D2850H	D	-	1	0	LRP2	169763572	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	7.762000	0.85270	2.826000	0.97356	0.655000	0.94253	GAT		0.378	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2		NM_004525		3	38	0	0	0	0.009096	0	3	38		
SGOL2	151246	broad.mit.edu	37	2	201436243	201436243	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:201436243G>A	ENST00000357799.4	+	7	1272	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	392					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.E392Q(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAAACAAATGAACATGGAAT	0.318																																						uc002uvw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)	4						c.(1174-1176)GAA>AAA		shugoshin-like 2 isoform 1							37.0	37.0	37.0					2																	201436243		1807	4063	5870	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201436243G>A	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1174G>A	2.37:g.201436243G>A	ENSP00000350447:p.Glu392Lys					SGOL2_uc010zhd.1_Missense_Mutation_p.E392K|SGOL2_uc010zhe.1_Missense_Mutation_p.E392K	p.E392K	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN			7	1287	+			392					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.1174G>A	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	G	4.738	0.137166	0.09032	.	.	ENSG00000163535	ENST00000357799	T	0.12147	2.71	5.0	1.2	0.21068	.	0.789609	0.11632	N	0.544722	T	0.08670	0.0215	N	0.22421	0.69	0.09310	N	1	B;B;B	0.32467	0.372;0.372;0.372	B;B;B	0.30316	0.114;0.114;0.114	T	0.34104	-0.9842	10	0.30854	T	0.27	-0.7642	9.0655	0.36460	0.302:0.0:0.698:0.0	.	392;392;392	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	K	392	ENSP00000350447:E392K	ENSP00000350447:E392K	E	+	1	0	SGOL2	201144488	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.183000	0.16919	0.379000	0.24794	0.585000	0.79938	GAA		0.318	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1		NM_152524		6	56	0	0	0	0.001168	0	6	56		
CUL3	8452	broad.mit.edu	37	2	225371615	225371615	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:225371615G>T	ENST00000264414.4	-	7	1327	c.989C>A	c.(988-990)tCt>tAt	p.S330Y	CUL3_ENST00000344951.4_Missense_Mutation_p.S264Y|CUL3_ENST00000409777.1_Missense_Mutation_p.S306Y|CUL3_ENST00000409096.1_Missense_Mutation_p.S306Y	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	330					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCCTTCTTCAGAAACAAGAGC	0.378																																						uc002vny.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4						c.(988-990)TCT>TAT		cullin 3							98.0	93.0	94.0					2																	225371615		2203	4300	6503	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225371615G>T	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.989C>A	2.37:g.225371615G>T	ENSP00000264414:p.Ser330Tyr					CUL3_uc010zls.1_Missense_Mutation_p.S264Y|CUL3_uc010fwy.1_Missense_Mutation_p.S336Y	p.S330Y	NM_003590	NP_003581	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	7	1373	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	330					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.989C>A	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.777526	0.90195	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	5.69	5.69	0.88448	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82628	0.5078	M	0.70595	2.14	0.80722	D	1	D;P;P	0.61080	0.989;0.904;0.841	P;P;P	0.53809	0.735;0.609;0.609	D	0.83674	0.0168	10	0.59425	D	0.04	.	19.8051	0.96529	0.0:0.0:1.0:0.0	.	264;308;330	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	Y	330;264;306;306	ENSP00000264414:S330Y;ENSP00000343601:S264Y;ENSP00000387200:S306Y;ENSP00000386525:S306Y	ENSP00000264414:S330Y	S	-	2	0	CUL3	225079859	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.444000	0.97578	2.702000	0.92279	0.591000	0.81541	TCT		0.378	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2				8	45	1	0	0.00307968	0.00308	0.00312888	8	45		
HDLBP	3069	broad.mit.edu	37	2	242169088	242169088	+	Silent	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:242169088G>A	ENST00000391975.1	-	28	3962	c.3735C>T	c.(3733-3735)agC>agT	p.S1245S	HDLBP_ENST00000310931.4_Silent_p.S1245S|HDLBP_ENST00000391976.2_Silent_p.S1245S|HDLBP_ENST00000427183.2_Silent_p.S1212S	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1245					cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCTCAGAGCTGCTCATGTCAG	0.582																																						uc002waz.2		NaN																	0				breast(3)|skin(1)	4						c.(3733-3735)AGC>AGT		high density lipoprotein binding protein							88.0	88.0	88.0					2																	242169088		2203	4300	6503	SO:0001819	synonymous_variant	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242169088G>A		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.3735C>T	2.37:g.242169088G>A						HDLBP_uc002wba.2_Silent_p.S1245S|HDLBP_uc002wbb.2_Silent_p.S1197S	p.S1245S	NM_203346	NP_976221	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	28	3963	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	1245					B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Silent	SNP	ENST00000391975.1	37	c.3735C>T	CCDS2547.1	.	.	.	.	.	.	.	.	.	.	G	2.607	-0.291716	0.05568	.	.	ENSG00000115677	ENST00000373292	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-33.4962	13.4381	0.61096	0.0712:0.0:0.9288:0.0	.	.	.	.	X	950	.	.	Q	-	1	0	HDLBP	241817761	1.000000	0.71417	1.000000	0.80357	0.220000	0.24768	7.923000	0.87546	2.782000	0.95742	0.655000	0.94253	CAG		0.582	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5		NM_203346		6	43	0	0	0	0.001984	0	6	43		
LZTS3	9762	broad.mit.edu	37	20	3146671	3146671	+	Silent	SNP	A	A	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr20:3146671A>C	ENST00000329152.3	-	2	2192	c.795T>G	c.(793-795)ggT>ggG	p.G265G	LZTS3_ENST00000360342.3_Silent_p.G265G|LZTS3_ENST00000337576.5_Silent_p.G265G			O60299	LZTS3_HUMAN		265						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											CCGACCCCCCACCGCTGCTGC	0.657																																						uc002wia.1		NaN																	0				pancreas(1)	1						c.(793-795)GGT>GGG		ProSAPiP1 protein							33.0	30.0	31.0					20																	3146671		2203	4300	6503	SO:0001819	synonymous_variant	9762					cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		g.chr20:3146671A>C																												ENST00000329152.3:c.795T>G	20.37:g.3146671A>C						ProSAPiP1_uc002wib.1_Silent_p.G265G	p.G265G	NM_014731	NP_055546	O60299	PRIP1_HUMAN			2	2193	-			265					A2A2Q7|D3DVX6|Q8IXX8	Silent	SNP	ENST00000329152.3	37	c.795T>G	CCDS13049.1																																																																																				0.657	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2				6	46	0	0	0	0.008871	0	6	46		
C20orf194	25943	broad.mit.edu	37	20	3270794	3270794	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr20:3270794G>C	ENST00000252032.9	-	26	2375	c.2308C>G	c.(2308-2310)Ctg>Gtg	p.L770V	C20orf194_ENST00000453730.2_Intron	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	770										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TCCTTATGCAGAGTGACCAGA	0.478																																						uc002wii.2		NaN																	0					0						c.(2308-2310)CTG>GTG		hypothetical protein LOC25943							211.0	211.0	211.0					20																	3270794		2024	4190	6214	SO:0001583	missense	25943							g.chr20:3270794G>C	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.2308C>G	20.37:g.3270794G>C	ENSP00000252032:p.Leu770Val					C20orf194_uc002wij.3_Missense_Mutation_p.L509V|C20orf194_uc002wik.2_Missense_Mutation_p.L444V	p.L770V	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN			26	2359	-			770					Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	c.2308C>G	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613304	0.46631	.	.	ENSG00000088854	ENST00000252032	T	0.24538	1.85	5.66	4.7	0.59300	.	0.211841	0.36303	N	0.002679	T	0.22859	0.0552	L	0.47716	1.5	0.80722	D	1	P;P	0.49559	0.925;0.925	B;B	0.43889	0.435;0.352	T	0.00706	-1.1601	10	0.39692	T	0.17	.	7.7333	0.28799	0.1623:0.0:0.8377:0.0	.	509;770	Q0IIP3;Q5TEA3	.;CT194_HUMAN	V	770	ENSP00000252032:L770V	ENSP00000252032:L770V	L	-	1	2	C20orf194	3218794	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.187000	0.50950	2.665000	0.90641	0.561000	0.74099	CTG		0.478	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1		NM_001009984		42	310	0	0	0	0.009718	0	42	310		
KIF16B	55614	broad.mit.edu	37	20	16359644	16359644	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr20:16359644C>G	ENST00000354981.2	-	19	3160	c.3003G>C	c.(3001-3003)caG>caC	p.Q1001H	KIF16B_ENST00000378003.2_Missense_Mutation_p.Q227H|KIF16B_ENST00000408042.1_Missense_Mutation_p.Q1001H|KIF16B_ENST00000355755.3_Missense_Mutation_p.Q1001H	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1001	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GCGCCTCTCTCTGCTGCTTCT	0.552																																						uc002wpg.1		NaN																	0				skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						c.(3001-3003)CAG>CAC		kinesin-like motor protein C20orf23							96.0	102.0	100.0					20																	16359644		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16359644C>G	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3003G>C	20.37:g.16359644C>G	ENSP00000347076:p.Gln1001His					KIF16B_uc002wpe.1_Missense_Mutation_p.Q383H|KIF16B_uc002wpf.1_Missense_Mutation_p.Q383H|KIF16B_uc010gch.1_Missense_Mutation_p.Q1001H|KIF16B_uc010gci.1_Missense_Mutation_p.Q1001H|KIF16B_uc010gcj.1_Missense_Mutation_p.Q1012H	p.Q1001H	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			19	3161	-			1001			Glu-rich.|Potential.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.3003G>C	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560493	0.65538	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.78126	-1.15;-1.1;2.1;-1.0	5.29	0.995	0.19838	.	0.056941	0.64402	N	0.000001	T	0.81898	0.4920	L	0.59436	1.845	0.40526	D	0.980889	D;D;D;D	0.89917	0.999;0.999;1.0;0.998	D;D;D;D	0.91635	0.998;0.998;0.999;0.995	T	0.78545	-0.2163	10	0.48119	T	0.1	.	7.0225	0.24922	0.0:0.5887:0.1239:0.2874	.	1001;1001;1001;1001	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	H	1001;1001;845;227;1001	ENSP00000347076:Q1001H;ENSP00000347995:Q1001H;ENSP00000367242:Q227H;ENSP00000384164:Q1001H	ENSP00000347076:Q1001H	Q	-	3	2	KIF16B	16307644	1.000000	0.71417	0.704000	0.30370	0.985000	0.73830	2.277000	0.43417	0.287000	0.22375	0.643000	0.83706	CAG		0.552	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2		NM_017683		18	164	0	0	0	0.00499	0	18	164		
NINL	22981	broad.mit.edu	37	20	25456923	25456923	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr20:25456923C>T	ENST00000278886.6	-	17	3077	c.3004G>A	c.(3004-3006)Gag>Aag	p.E1002K	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1002					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						AGGGCGCCCTCGGCCCGGGCC	0.677																																						uc002wux.1		NaN																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3004-3006)GAG>AAG		ninein-like							44.0	49.0	47.0					20																	25456923		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25456923C>T		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3004G>A	20.37:g.25456923C>T	ENSP00000278886:p.Glu1002Lys					NINL_uc010gdn.1_Intron	p.E1002K	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			17	3078	-			1002					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.3004G>A	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	2.796	-0.250160	0.05867	.	.	ENSG00000101004	ENST00000278886	T	0.05649	3.41	3.55	-6.64	0.01801	.	11.902300	0.00166	N	0.000003	T	0.02767	0.0083	N	0.12182	0.205	0.09310	N	1	B	0.18461	0.028	B	0.09377	0.004	T	0.41574	-0.9501	10	0.02654	T	1	2.1223	6.1186	0.20139	0.1432:0.2349:0.0:0.6219	.	1002	Q9Y2I6	NINL_HUMAN	K	1002	ENSP00000278886:E1002K	ENSP00000278886:E1002K	E	-	1	0	NINL	25404923	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.615000	0.05597	-0.960000	0.03613	0.561000	0.74099	GAG		0.677	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3		NM_025176		12	94	0	0	0	0.013537	0	12	94		
WFDC3	140686	broad.mit.edu	37	20	44416554	44416554	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr20:44416554C>G	ENST00000243938.4	-	4	362	c.279G>C	c.(277-279)gaG>gaC	p.E93D	WFDC3_ENST00000372632.2_Intron|WFDC3_ENST00000372630.2_Intron|WFDC3_ENST00000481847.1_5'UTR	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	93	WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				CTGGACATGTCTCATCAGTGA	0.463																																						uc002xpf.1		NaN																	0					0						c.(277-279)GAG>GAC		WAP four-disulfide core domain 3 precursor							184.0	144.0	158.0					20																	44416554		2203	4300	6503	SO:0001583	missense	140686					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44416554C>G	AL050348	CCDS33478.1	20q13.12	2013-01-21			ENSG00000124116	ENSG00000124116		"""WAP four-disulfide core domain containing"""	15957	protein-coding gene	gene with protein product						12206714, 10680116	Standard	NM_080614		Approved	dJ447F3.3, WAP14	uc002xpf.1	Q8IUB2	OTTHUMG00000032614	ENST00000243938.4:c.279G>C	20.37:g.44416554C>G	ENSP00000243938:p.Glu93Asp					WFDC3_uc002xpj.1_RNA|WFDC3_uc002xph.1_RNA|WFDC3_uc010ghh.1_RNA	p.E93D	NM_080614	NP_542181	Q8IUB2	WFDC3_HUMAN			4	363	-		Myeloproliferative disorder(115;0.0122)	93			WAP 2.		A6PVF2|Q0P6A5|Q3T1C5|Q8TC52|Q9BQP3|Q9BQP4	Missense_Mutation	SNP	ENST00000243938.4	37	c.279G>C	CCDS33478.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.273|6.273	0.418508|0.418508	0.11870|0.11870	.|.	.|.	ENSG00000124116|ENSG00000124116	ENST00000243938|ENST00000337205	T|.	0.72394|.	-0.65|.	3.06|3.06	-0.293|-0.293	0.12835|0.12835	Whey acidic protein, 4-disulphide core (5);4-disulphide core (1);|.	.|.	.|.	.|.	.|.	T|T	0.28499|0.28499	0.0705|0.0705	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.11235|.	0.004|.	B|.	0.14023|.	0.01|.	T|T	0.28933|0.28933	-1.0028|-1.0028	9|5	0.20046|.	T|.	0.44|.	-1.4001|-1.4001	10.7289|10.7289	0.46085|0.46085	0.0:0.4141:0.5859:0.0|0.0:0.4141:0.5859:0.0	.|.	93|.	Q8IUB2|.	WFDC3_HUMAN|.	D|T	93|87	ENSP00000243938:E93D|.	ENSP00000243938:E93D|.	E|R	-|-	3|2	2|0	WFDC3|WFDC3	43849961|43849961	0.001000|0.001000	0.12720|0.12720	0.003000|0.003000	0.11579|0.11579	0.068000|0.068000	0.16541|0.16541	-0.067000|-0.067000	0.11579|0.11579	-0.025000|-0.025000	0.13918|0.13918	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.463	WFDC3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316858.1				6	73	0	0	0	0.001168	0	6	73		
WFDC3	140686	broad.mit.edu	37	20	44417657	44417657	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr20:44417657C>G	ENST00000243938.4	-	3	207	c.124G>C	c.(124-126)Gag>Cag	p.E42Q	WFDC3_ENST00000372632.2_Missense_Mutation_p.E42Q|DNTTIP1_ENST00000372622.3_5'Flank|WFDC3_ENST00000372630.2_Intron|WFDC3_ENST00000481847.1_Intron	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	42	WAP 1. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				TGGCACAGCTCTTTGCATGGG	0.512																																						uc002xpf.1		NaN																	0					0						c.(124-126)GAG>CAG		WAP four-disulfide core domain 3 precursor							221.0	203.0	209.0					20																	44417657		2203	4300	6503	SO:0001583	missense	140686					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44417657C>G	AL050348	CCDS33478.1	20q13.12	2013-01-21			ENSG00000124116	ENSG00000124116		"""WAP four-disulfide core domain containing"""	15957	protein-coding gene	gene with protein product						12206714, 10680116	Standard	NM_080614		Approved	dJ447F3.3, WAP14	uc002xpf.1	Q8IUB2	OTTHUMG00000032614	ENST00000243938.4:c.124G>C	20.37:g.44417657C>G	ENSP00000243938:p.Glu42Gln					DNTTIP1_uc002xpk.2_5'Flank|WFDC3_uc002xpj.1_RNA|WFDC3_uc002xph.1_RNA|WFDC3_uc010ghh.1_Intron	p.E42Q	NM_080614	NP_542181	Q8IUB2	WFDC3_HUMAN			3	208	-		Myeloproliferative disorder(115;0.0122)	42			WAP 1.		A6PVF2|Q0P6A5|Q3T1C5|Q8TC52|Q9BQP3|Q9BQP4	Missense_Mutation	SNP	ENST00000243938.4	37	c.124G>C	CCDS33478.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.71|13.71	2.319582|2.319582	0.41096|0.41096	.|.	.|.	ENSG00000124116|ENSG00000124116	ENST00000243938;ENST00000372632|ENST00000337205	T;T|T	0.71934|0.71817	-0.61;-0.61|-0.6	4.27|4.27	4.27|4.27	0.50696|0.50696	Whey acidic protein, 4-disulphide core (5);|.	0.806849|.	0.10127|.	N|.	0.712607|.	T|T	0.67562|0.67562	0.2906|0.2906	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	P|.	0.46064|.	0.872|.	P|.	0.47941|.	0.562|.	T|T	0.63756|0.63756	-0.6565|-0.6565	10|7	0.49607|0.27082	T|T	0.09|0.32	-1.266|-1.266	12.9026|12.9026	0.58133|0.58133	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	42|.	Q8IUB2|.	WFDC3_HUMAN|.	Q|N	42|35	ENSP00000243938:E42Q;ENSP00000361715:E42Q|ENSP00000337815:K35N	ENSP00000243938:E42Q|ENSP00000337815:K35N	E|K	-|-	1|3	0|2	WFDC3|WFDC3	43851064|43851064	0.019000|0.019000	0.18553|0.18553	0.542000|0.542000	0.28115|0.28115	0.690000|0.690000	0.40134|0.40134	1.707000|1.707000	0.37888|0.37888	2.319000|2.319000	0.78375|0.78375	0.643000|0.643000	0.83706|0.83706	GAG|AAG		0.512	WFDC3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316858.1				16	249	0	0	0	0.006122	0	16	249		
CTCFL	140690	broad.mit.edu	37	20	56098314	56098314	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr20:56098314C>T	ENST00000608263.1	-	2	1225	c.564G>A	c.(562-564)aaG>aaA	p.K188K	CTCFL_ENST00000481655.2_Silent_p.K188K|CTCFL_ENST00000423479.3_Silent_p.K188K|CTCFL_ENST00000608440.1_Silent_p.K188K|CTCFL_ENST00000429804.3_Silent_p.K188K|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000433949.3_5'UTR|CTCFL_ENST00000422869.2_Silent_p.K188K|CTCFL_ENST00000432255.2_Silent_p.K188K|CTCFL_ENST00000539382.1_5'UTR|CTCFL_ENST00000608425.1_Silent_p.K188K|CTCFL_ENST00000371196.2_Silent_p.K188K|CTCFL_ENST00000243914.3_Silent_p.K188K|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000609232.1_Silent_p.K188K|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000608158.1_Silent_p.K188K	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	188					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ATAACTGGTTCTTCTCCTGCT	0.353																																						uc010gix.1		NaN																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(562-564)AAG>AAA		CCCTC-binding factor-like protein							114.0	111.0	112.0					20																	56098314		2202	4300	6502	SO:0001819	synonymous_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56098314C>T		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.564G>A	20.37:g.56098314C>T						CTCFL_uc010giw.1_Silent_p.K188K|CTCFL_uc002xym.2_Silent_p.K188K|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Silent_p.K188K|CTCFL_uc010gjb.1_Silent_p.K188K|CTCFL_uc010gjc.1_Silent_p.K188K|CTCFL_uc010gjd.1_Silent_p.K188K|CTCFL_uc010gje.2_Silent_p.K188K|CTCFL_uc010gjf.2_5'UTR|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Silent_p.K188K|CTCFL_uc010gji.1_5'UTR|CTCFL_uc010gjj.1_Silent_p.K188K|CTCFL_uc010gjk.1_Silent_p.K188K|CTCFL_uc010gjl.1_Silent_p.K188K	p.K188K	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		2	1226	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		188					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Silent	SNP	ENST00000608263.1	37	c.564G>A	CCDS13459.1																																																																																				0.353	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1		NM_080618		11	74	0	0	0	0.008291	0	11	74		
DSCAM	1826	broad.mit.edu	37	21	41684108	41684108	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr21:41684108C>G	ENST00000400454.1	-	9	2439	c.1962G>C	c.(1960-1962)ttG>ttC	p.L654F		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	654	Ig-like C2-type 7.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGAAATCCTCAAGGAGCTCG	0.547																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NaN																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(1960-1962)TTG>TTC		Down syndrome cell adhesion molecule isoform							89.0	88.0	88.0					21																	41684108		1915	4145	6060	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41684108C>G	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1962G>C	21.37:g.41684108C>G	ENSP00000383303:p.Leu654Phe					DSCAM_uc002yyr.1_RNA	p.L654F	NM_001389	NP_001380	O60469	DSCAM_HUMAN			9	2414	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	654			Extracellular (Potential).|Ig-like C2-type 7.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.1962G>C	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390325	0.62066	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.73575	-0.76;-0.76	5.43	-5.48	0.02592	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	D	0.87597	0.6217	H	0.94503	3.545	0.40103	D	0.97639	D	0.89917	1.0	D	0.87578	0.998	D	0.89126	0.3506	10	0.87932	D	0	.	16.5232	0.84322	0.0:0.1997:0.0:0.8003	.	654	O60469	DSCAM_HUMAN	F	654;406	ENSP00000383303:L654F;ENSP00000385342:L406F	ENSP00000383303:L654F	L	-	3	2	DSCAM	40605978	0.528000	0.26314	0.214000	0.23707	0.932000	0.56968	-0.218000	0.09240	-1.011000	0.03391	-0.471000	0.05019	TTG		0.547	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1		NM_001389		6	133	0	0	0	0.001168	0	6	133		
KRTAP10-11	386678	broad.mit.edu	37	21	46066950	46066950	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr21:46066950T>C	ENST00000334670.8	+	1	620	c.575T>C	c.(574-576)gTc>gCc	p.V192A	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	192	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						TGCGTGCCTGTCTGCTGCAAG	0.607																																						uc002zfr.3		NaN																	0				ovary(1)	1						c.(574-576)GTC>GCC		keratin associated protein 10-11							195.0	200.0	199.0					21																	46066950		2203	4300	6503	SO:0001583	missense	386678					keratin filament		g.chr21:46066950T>C	AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"""Keratin associated proteins"""	20528	protein-coding gene	gene with protein product			"""keratin associated protein 10-11"""	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.575T>C	21.37:g.46066950T>C	ENSP00000334197:p.Val192Ala					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.V192A	NM_198692	NP_941965	P60412	KR10B_HUMAN			1	620	+			192			25 X 5 AA repeats of C-C-X(3).|18.		A2RRF9	Missense_Mutation	SNP	ENST00000334670.8	37	c.575T>C	CCDS42962.1	.	.	.	.	.	.	.	.	.	.	t	7.182	0.589869	0.13812	.	.	ENSG00000243489	ENST00000334670	T	0.01379	4.96	3.55	1.09	0.20402	.	.	.	.	.	T	0.01695	0.0054	L	0.55834	1.745	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.44787	-0.9305	9	0.42905	T	0.14	.	3.1581	0.06511	0.0:0.2496:0.2201:0.5303	.	192	P60412	KR10B_HUMAN	A	192	ENSP00000334197:V192A	ENSP00000334197:V192A	V	+	2	0	KRTAP10-11	44891378	0.976000	0.34144	0.011000	0.14972	0.008000	0.06430	2.041000	0.41213	0.383000	0.24910	0.374000	0.22700	GTC		0.607	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128029.1		NM_198692		31	399	0	0	0	0.008361	0	31	399		
PLXNB2	23654	broad.mit.edu	37	22	50720031	50720031	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr22:50720031C>G	ENST00000449103.1	-	21	3626	c.3486G>C	c.(3484-3486)caG>caC	p.Q1162H	PLXNB2_ENST00000359337.4_Missense_Mutation_p.Q1162H|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1162					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGTCTCGTTTCTGCCGCCGCT	0.697																																						uc003bkv.3		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3484-3486)CAG>CAC		plexin B2 precursor							30.0	38.0	35.0					22																	50720031		2065	4182	6247	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50720031C>G		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3486G>C	22.37:g.50720031C>G	ENSP00000409171:p.Gln1162His					PLXNB2_uc003bkt.1_5'UTR|PLXNB2_uc003bku.1_Missense_Mutation_p.Q147H	p.Q1162H	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	21	3592	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1162	RQKR->AQKA: Abolishes cleavage by proprotein convertases.		Extracellular (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.3486G>C	CCDS43035.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.68|11.68	1.711175|1.711175	0.30322|0.30322	.|.	.|.	ENSG00000196576|ENSG00000196576	ENST00000449103;ENST00000359337|ENST00000427829	T;T|.	0.03524|.	3.9;3.9|.	4.33|4.33	2.17|2.17	0.27698|0.27698	.|.	0.123781|.	0.36665|.	N|.	0.002480|.	T|T	0.27419|0.27419	0.0673|0.0673	N|N	0.19112|0.19112	0.55|0.55	0.32379|0.32379	N|N	0.554805|0.554805	B|.	0.18013|.	0.025|.	B|.	0.17098|.	0.017|.	T|T	0.33369|0.33369	-0.9871|-0.9871	10|5	0.33141|.	T|.	0.24|.	.|.	6.4904|6.4904	0.22113|0.22113	0.0:0.687:0.1473:0.1656|0.0:0.687:0.1473:0.1656	.|.	1162|.	O15031|.	PLXB2_HUMAN|.	H|T	1162|180	ENSP00000409171:Q1162H;ENSP00000352288:Q1162H|.	ENSP00000352288:Q1162H|.	Q|R	-|-	3|2	2|0	PLXNB2|PLXNB2	49062158|49062158	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.793000|0.793000	0.44817|0.44817	2.064000|2.064000	0.41432|0.41432	1.045000|1.045000	0.40225|0.40225	0.561000|0.561000	0.74099|0.74099	CAG|AGA		0.697	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3		NM_012401		16	77	0	0	0	0.007413	0	16	77		
FANCD2	2177	broad.mit.edu	37	3	10089628	10089628	+	Missense_Mutation	SNP	C	C	A	rs373898927		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:10089628C>A	ENST00000419585.1	+	16	1467	c.1306C>A	c.(1306-1308)Ctg>Atg	p.L436M	FANCD2_ENST00000383806.1_Missense_Mutation_p.L436M|FANCD2_ENST00000287647.3_Missense_Mutation_p.L436M|FANCD2_ENST00000383807.1_Missense_Mutation_p.L436M			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	436					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATCCATTCTGTCGCTGGC	0.393			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003buw.2		NaN	yes	Rec		Fanconi anaemia D2	3	3p26	2177	D|Mis|N|F	"""Fanconi anemia, complementation group D2"""			L		AML|leukemia			0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1306-1308)CTG>ATG	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group D2 isoform		C	MET/LEU,MET/LEU	0,4406		0,0,2203	174.0	178.0	176.0		1306,1306	1.7	0.4	3		176	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FANCD2	NM_001018115.1,NM_033084.3	15,15	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	436/1452,436/1472	10089628	1,13005	2203	4300	6503	SO:0001583	missense	2177	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding	g.chr3:10089628C>A	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1306C>A	3.37:g.10089628C>A	ENSP00000398754:p.Leu436Met					FANCD2_uc003bux.1_Missense_Mutation_p.L436M|FANCD2_uc003buy.1_Missense_Mutation_p.L436M|FANCD2_uc010hcw.1_5'Flank	p.L436M	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	16	1384	+			436					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.1306C>A	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.782022	0.49891	0.0	1.16E-4	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.73363	0.09;0.09;-0.74;0.09	5.65	1.73	0.24493	.	0.000000	0.64402	D	0.000001	D	0.82323	0.5012	M	0.72576	2.205	0.37397	D	0.912688	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82845	-0.0256	10	0.72032	D	0.01	.	9.0007	0.36081	0.0:0.6676:0.0:0.3324	.	436;436	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	M	436	ENSP00000287647:L436M;ENSP00000373318:L436M;ENSP00000373317:L436M;ENSP00000398754:L436M	ENSP00000287647:L436M	L	+	1	2	FANCD2	10064628	1.000000	0.71417	0.408000	0.26446	0.410000	0.31052	2.327000	0.43858	0.295000	0.22570	-0.229000	0.12294	CTG		0.393	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1				26	255	1	0	5.45024e-15	0.00333	5.99715e-15	26	255		
ATP2B2	491	broad.mit.edu	37	3	10442706	10442706	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:10442706C>T	ENST00000352432.4	-	4	781	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	ATP2B2_ENST00000360273.2_Missense_Mutation_p.E238K|ATP2B2_ENST00000383800.4_Missense_Mutation_p.E238K|ATP2B2_ENST00000397077.1_Missense_Mutation_p.E238K|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E238K			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	238					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						AGGGAGCTTTCATCAATCTTG	0.592																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(712-714)GAA>AAA		plasma membrane calcium ATPase 2 isoform 1							130.0	113.0	119.0					3																	10442706		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10442706C>T	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.712G>A	3.37:g.10442706C>T	ENSP00000324172:p.Glu238Lys					ATP2B2_uc003bvv.2_Missense_Mutation_p.E238K|ATP2B2_uc003bvw.2_Missense_Mutation_p.E238K|ATP2B2_uc010hdp.2_Missense_Mutation_p.E238K|ATP2B2_uc010hdo.2_5'UTR	p.E238K	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			5	1151	-			238			Cytoplasmic (Potential).		O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.712G>A	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	36	5.622538	0.96660	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2;-3.2	5.6	5.6	0.85130	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.98385	0.9463	H	0.98769	4.325	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.994;1.0;1.0	D	0.99505	1.0954	10	0.87932	D	0	-26.1435	19.6187	0.95647	0.0:1.0:0.0:0.0	.	238;250;238	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	K	238;238;238;238;238;204;125;238	ENSP00000324172:E238K;ENSP00000373311:E238K;ENSP00000380267:E238K;ENSP00000353414:E238K;ENSP00000344677:E238K;ENSP00000414854:E125K	ENSP00000342954:E238K	E	-	1	0	ATP2B2	10417706	1.000000	0.71417	0.256000	0.24389	0.915000	0.54546	7.818000	0.86416	2.627000	0.88993	0.650000	0.86243	GAA		0.592	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2		NM_001683		17	84	0	0	0	0.004007	0	17	84		
PPARG	5468	broad.mit.edu	37	3	12447544	12447544	+	Silent	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:12447544G>C	ENST00000287820.6	+	5	904	c.783G>C	c.(781-783)gcG>gcC	p.A261A	PPARG_ENST00000397010.2_Silent_p.A233A|PPARG_ENST00000397000.1_Silent_p.A233A|PPARG_ENST00000309576.6_Silent_p.A233A|PPARG_ENST00000539812.1_Silent_p.A231A|PPARG_ENST00000397026.2_Silent_p.A239A|PPARG_ENST00000397015.2_Silent_p.A233A|PPARG_ENST00000397012.2_Silent_p.A233A	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	261	Interaction with FAM120B. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	AAGCAAAGGCGAGGGCGATCT	0.478			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""																															uc003bwx.2		NaN		Dom	yes		3	3p25	5468	T	"""peroxisome proliferative activated receptor, gamma"""	yes	Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension	E	PAX8		follicular thyroid		0				ovary(1)|kidney(1)	2						c.(781-783)GCG>GCC		peroxisome proliferative activated receptor	Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)						72.0	76.0	74.0					3																	12447544		2203	4300	6503	SO:0001819	synonymous_variant	5468				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:12447544G>C	X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"""Nuclear hormone receptors"""	9236	protein-coding gene	gene with protein product		601487	"""peroxisome proliferative activated receptor, gamma"""			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.783G>C	3.37:g.12447544G>C						PPARG_uc003bwr.2_Silent_p.A233A|PPARG_uc003bws.2_Silent_p.A233A|PPARG_uc003bwu.2_Silent_p.A233A|PPARG_uc003bwv.2_Silent_p.A233A|PPARG_uc010hea.1_RNA|PPARG_uc003bwq.1_Silent_p.A233A|PPARG_uc003bwt.1_Silent_p.A233A|PPARG_uc003bww.1_Silent_p.A261A	p.A261A	NM_015869	NP_056953	P37231	PPARG_HUMAN			5	874	+			261			Interaction with FAM120B (By similarity).		A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Silent	SNP	ENST00000287820.6	37	c.783G>C	CCDS2609.1																																																																																				0.478	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2		NM_005037		9	53	0	0	0	0.004482	0	9	53		
CAND2	23066	broad.mit.edu	37	3	12861592	12861592	+	Silent	SNP	A	A	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:12861592A>G	ENST00000456430.2	+	11	2993	c.2952A>G	c.(2950-2952)ccA>ccG	p.P984P	CAND2_ENST00000295989.5_Silent_p.P891P	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	984					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAGGTCGGCCACACACCCGGA	0.597																																					GBM(43;676 868 1633 6395 37496)	uc003bxk.2		NaN																	0				skin(3)|pancreas(1)	4						c.(2950-2952)CCA>CCG		TBP-interacting protein isoform 1							116.0	127.0	123.0					3																	12861592		2162	4240	6402	SO:0001819	synonymous_variant	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12861592A>G		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.2952A>G	3.37:g.12861592A>G						CAND2_uc003bxj.2_Silent_p.P891P	p.P984P	NM_001162499	NP_001155971	O75155	CAND2_HUMAN			11	3001	+			984			HEAT 21.		B9EGM9|E9KL24	Silent	SNP	ENST00000456430.2	37	c.2952A>G	CCDS54554.1																																																																																				0.597	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4		XM_371617		14	106	0	0	0	0.001855	0	14	106		
C3orf35	339883	broad.mit.edu	37	3	37476522	37476522	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:37476522C>T	ENST00000328376.5	+	6	1393	c.414C>T	c.(412-414)gcC>gcT	p.A138A	C3orf35_ENST00000481400.1_3'UTR	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	138						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GTGGGGATGCCTGGAAAACAA	0.537																																						uc003cha.3		NaN																	0				central_nervous_system(1)	1						c.(412-414)GCC>GCT		AP20 region protein isoform B							48.0	52.0	51.0					3																	37476522		1932	4132	6064	SO:0001819	synonymous_variant	339883					integral to membrane		g.chr3:37476522C>T	AJ493599	CCDS43065.1, CCDS46792.1	3p22.3	2014-05-22			ENSG00000198590	ENSG00000198590			24082	protein-coding gene	gene with protein product	"""AP20 region protein"", ""APRG1 tumor suppressor candidate"""	611429				12543795	Standard	NM_178342		Approved	APRG1	uc003cha.4	Q8IVJ8	OTTHUMG00000155923	ENST00000328376.5:c.414C>T	3.37:g.37476522C>T							p.A138A	NM_178339	NP_848029	Q8IVJ8	APRG1_HUMAN			6	1078	+			138					B7ZMA0|Q8IVJ5|Q8IVJ9	Silent	SNP	ENST00000328376.5	37	c.414C>T	CCDS43065.1																																																																																				0.537	C3orf35-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342344.2		NM_178338		4	49	0	0	0	0.009096	0	4	49		
XIRP1	165904	broad.mit.edu	37	3	39230134	39230134	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:39230134G>T	ENST00000340369.3	-	2	1031	c.803C>A	c.(802-804)tCt>tAt	p.S268Y	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.S268Y	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	268					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCAGCGGGCAGACCTCACCGC	0.662																																						uc003cjk.1		NaN																	0				ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(802-804)TCT>TAT		xin actin-binding repeat containing 1							60.0	61.0	61.0					3																	39230134		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39230134G>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.803C>A	3.37:g.39230134G>T	ENSP00000343140:p.Ser268Tyr					XIRP1_uc003cji.2_Missense_Mutation_p.S268Y|XIRP1_uc003cjj.2_Intron	p.S268Y	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	1024	-			268			Xin 6.		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.803C>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.179816	0.38511	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.05382	3.45;3.84	4.95	4.05	0.47172	.	0.466719	0.22934	N	0.053877	T	0.07188	0.0182	L	0.29908	0.895	0.53688	D	0.999973	P;P	0.52842	0.956;0.923	P;B	0.44732	0.459;0.446	T	0.22695	-1.0209	10	0.87932	D	0	.	11.9621	0.53015	0.0:0.3374:0.6626:0.0	.	268;268	Q702N8;Q702N8-2	XIRP1_HUMAN;.	Y	268	ENSP00000379550:S268Y;ENSP00000343140:S268Y	ENSP00000343140:S268Y	S	-	2	0	XIRP1	39205138	0.952000	0.32445	0.071000	0.20095	0.631000	0.37964	2.500000	0.45381	1.192000	0.43071	0.591000	0.81541	TCT		0.662	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1		XM_093522		23	91	1	0	1.22574e-08	0.014323	1.3213e-08	23	91		
CTNNB1	1499	broad.mit.edu	37	3	41278172	41278172	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:41278172T>A	ENST00000349496.5	+	13	2328	c.2048T>A	c.(2047-2049)tTc>tAc	p.F683Y	CTNNB1_ENST00000396185.3_Missense_Mutation_p.F683Y|CTNNB1_ENST00000453024.1_Missense_Mutation_p.F676Y|CTNNB1_ENST00000405570.1_Missense_Mutation_p.F683Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.F683Y	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	683					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		AGCTCTCTCTTCAGAACAGAG	0.458		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	uc010hia.1		15		Dom	yes		3	3p22-p21.3	1499	H|Mis|T	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma	CTNNB1/PLAG1(60)	0				liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166						c.(2047-2049)TTC>TAC		beta-catenin	Lithium(DB01356)						132.0	132.0	132.0					3																	41278172		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma_Familial_Clustering_of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41278172T>A	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.2048T>A	3.37:g.41278172T>A	ENSP00000344456:p.Phe683Tyr					CTNNB1_uc003ckp.2_Missense_Mutation_p.F683Y|CTNNB1_uc003ckq.2_Missense_Mutation_p.F683Y|CTNNB1_uc003ckr.2_Missense_Mutation_p.F683Y|CTNNB1_uc011azf.1_Missense_Mutation_p.F676Y|CTNNB1_uc011azg.1_Missense_Mutation_p.F611Y|CTNNB1_uc003cks.2_3'UTR|CTNNB1_uc003ckt.1_3'UTR	p.F683Y	NM_001904	NP_001895	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	14	2204	+			683					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.2048T>A	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.027658	0.75390	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.47764	0.1463	L	0.58810	1.83	0.80722	D	1	B;B	0.16166	0.016;0.016	B;B	0.17098	0.017;0.017	T	0.41752	-0.9491	10	0.51188	T	0.08	-3.4406	15.958	0.79902	0.0:0.0:0.0:1.0	.	611;683	B4DSW9;P35222	.;CTNB1_HUMAN	Y	683;683;683;676;683	ENSP00000385604:F683Y;ENSP00000379486:F683Y;ENSP00000344456:F683Y;ENSP00000411226:F676Y;ENSP00000379488:F683Y	ENSP00000344456:F683Y	F	+	2	0	CTNNB1	41253176	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.040000	0.89188	2.162000	0.67917	0.460000	0.39030	TTC		0.458	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2		NM_001098210		11	158	0	0	0	0.010729	0	11	158		
CCR5	1234	broad.mit.edu	37	3	46414768	46414768	+	Silent	SNP	T	T	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:46414768T>C	ENST00000292303.4	+	2	521	c.375T>C	c.(373-375)gaT>gaC	p.D125D	CCR5_ENST00000343801.4_Silent_p.D125D|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000445772.1_Silent_p.D125D	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	125					calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.D125E(1)		central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	TGACAATCGATAGGTACCTGG	0.478																																						uc003cpo.3		NaN																	1	Substitution - Missense(1)		lung(1)	lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(373-375)GAT>GAC		chemokine (C-C motif) receptor 5	Maraviroc(DB04835)						163.0	169.0	167.0					3																	46414768		2203	4296	6499	SO:0001819	synonymous_variant	1234				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity	g.chr3:46414768T>C		CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1606	protein-coding gene	gene with protein product		601373	"""chemokine (C-C motif) receptor 5"""	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.375T>C	3.37:g.46414768T>C						CCR5_uc010hjd.2_Silent_p.D125D	p.D125D	NM_001100168	NP_001093638	P51681	CCR5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	3	497	+			125			Cytoplasmic (Potential).		O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Silent	SNP	ENST00000292303.4	37	c.375T>C	CCDS2739.1																																																																																				0.478	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257377.2		NM_000579		10	209	0	0	0	0.006214	0	10	209		
KLHDC8B	200942	broad.mit.edu	37	3	49211748	49211748	+	Silent	SNP	T	T	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:49211748T>C	ENST00000332780.2	+	3	662	c.453T>C	c.(451-453)cgT>cgC	p.R151R	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	151						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATGAGCCCCGTCGGGACTGCT	0.597																																						uc003cwh.2		NaN																	0					0						c.(451-453)CGT>CGC		kelch domain containing 8B							97.0	90.0	93.0					3																	49211748		2203	4300	6503	SO:0001819	synonymous_variant	200942					cytoplasm		g.chr3:49211748T>C		CCDS2791.1	3p21.31	2008-02-05			ENSG00000185909	ENSG00000185909			28557	protein-coding gene	gene with protein product		613169					Standard	NM_173546		Approved	MGC35097	uc003cwh.3	Q8IXV7	OTTHUMG00000156814	ENST00000332780.2:c.453T>C	3.37:g.49211748T>C						KLHDC8B_uc003cwi.1_Silent_p.R24R	p.R151R	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	3	638	+			151			Kelch 4.			Silent	SNP	ENST00000332780.2	37	c.453T>C	CCDS2791.1																																																																																				0.597	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345974.1		NM_173546		10	117	0	0	0	0.006214	0	10	117		
GMPPB	29925	broad.mit.edu	37	3	49756220	49756220	+	3'UTR	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:49756220G>A	ENST00000480687.1	-	0	4164				AMIGO3_ENST00000320431.7_Missense_Mutation_p.L227F|RNF123_ENST00000497099.1_Intron|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000535833.1_Missense_Mutation_p.L227F			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						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)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGGTGGTAGAGGCGGCAGTCG	0.657																																						uc003cxj.2		NaN																	0				pancreas(1)	1						c.(679-681)CTC>TTC		adhesion molecule with Ig-like domain 3							31.0	37.0	35.0					3																	49756220		2202	4294	6496	SO:0001624	3_prime_UTR_variant	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49756220G>A	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*2965C>T	3.37:g.49756220G>A						RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	p.L227F	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	1019	-			227			Extracellular (Potential).|LRRCT.		A8K6N5|Q9H7U3	Missense_Mutation	SNP	ENST00000480687.1	37	c.679C>T	CCDS2803.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390579	0.82902	.	.	ENSG00000176020	ENST00000320431;ENST00000535833	T;T	0.02737	4.18;4.18	5.21	5.21	0.72293	.	0.134497	0.51477	D	0.000088	T	0.16727	0.0402	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.00186	-1.1942	10	0.72032	D	0.01	-26.6207	17.3254	0.87245	0.0:0.0:1.0:0.0	.	227	Q86WK7	AMGO3_HUMAN	F	227	ENSP00000323096:L227F;ENSP00000439268:L227F	ENSP00000323096:L227F	L	-	1	0	AMIGO3	49731224	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.316000	0.51960	2.427000	0.82271	0.462000	0.41574	CTC		0.657	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1		NM_013334		8	86	0	0	0	0.00308	0	8	86		
MAGI1	9223	broad.mit.edu	37	3	65365145	65365145	+	Missense_Mutation	SNP	C	C	T	rs368569997		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:65365145C>T	ENST00000497477.2	-	17	2785	c.2786G>A	c.(2785-2787)cGc>cAc	p.R929H	MAGI1_ENST00000402939.2_Missense_Mutation_p.R929H|MAGI1_ENST00000330909.8_Missense_Mutation_p.R957H|MAGI1_ENST00000483466.1_Missense_Mutation_p.R957H			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	957					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTGCGGAGTGCGCTTCTCTTC	0.667													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16223	0.0		0.0	False		,,,				2504	0.0					uc003dmn.2		NaN																	0				lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6						c.(2785-2787)CGC>CAC		membrane associated guanylate kinase, WW and PDZ		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	76.0	79.0	78.0		2786,2870,2870	4.6	1.0	3		78	1,8599		0,1,4299	no	missense,missense,missense	MAGI1	NM_001033057.1,NM_004742.2,NM_015520.1	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	929/1463,957/1257,957/1288	65365145	1,13005	2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65365145C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.2786G>A	3.37:g.65365145C>T	ENSP00000424369:p.Arg929His					MAGI1_uc003dmm.2_Missense_Mutation_p.R957H|MAGI1_uc003dmo.2_Missense_Mutation_p.R957H|MAGI1_uc003dmp.2_Missense_Mutation_p.R929H|MAGI1_uc003dmq.1_RNA|MAGI1_uc010hnx.1_Missense_Mutation_p.R240H	p.R929H	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	17	3312	-		Lung NSC(201;0.0016)	957					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.2786G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.544171|4.544171	0.86022|0.86022	0.0|0.0	1.16E-4|1.16E-4	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	.|T;T;T;T;T;T	.|0.20200	.|2.58;2.2;2.21;2.2;2.09;2.23	5.49|5.49	4.62|4.62	0.57501|0.57501	.|.	.|0.219824	.|0.48767	.|N	.|0.000174	T|T	0.41858|0.41858	0.1177|0.1177	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|D;P;D;P;D	.|0.89917	.|0.986;0.625;1.0;0.87;0.999	.|P;B;D;B;D	.|0.91635	.|0.749;0.132;0.999;0.355;0.949	T|T	0.17961|0.17961	-1.0352|-1.0352	5|10	.|0.41790	.|T	.|0.15	-6.2849|-6.2849	14.1422|14.1422	0.65327|0.65327	0.0:0.9271:0.0:0.0729|0.0:0.9271:0.0:0.0729	.|.	.|957;929;957;929;957	.|A8K188;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.|.;.;.;.;.	T|H	838|929;957;853;832;957;929;715	.|ENSP00000385450:R929H;ENSP00000331157:R957H;ENSP00000418177:R832H;ENSP00000420323:R957H;ENSP00000424369:R929H;ENSP00000420796:R715H	.|ENSP00000331157:R957H	A|R	-|-	1|2	0|0	MAGI1|MAGI1	65340185|65340185	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.849000|0.849000	0.48306|0.48306	3.195000|3.195000	0.51013|0.51013	1.301000|1.301000	0.44836|0.44836	0.585000|0.585000	0.79938|0.79938	GCA|CGC		0.667	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2		NM_004742		16	121	0	0	0	0.00499	0	16	121		
ROBO2	6092	broad.mit.edu	37	3	77600062	77600062	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:77600062G>A	ENST00000461745.1	+	8	2053	c.1153G>A	c.(1153-1155)Gac>Aac	p.D385N	ROBO2_ENST00000487694.3_Missense_Mutation_p.D401N|ROBO2_ENST00000332191.8_Missense_Mutation_p.D385N	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	385	Ig-like C2-type 4.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCAACGTTCCGACGCGGGTTA	0.473																																						uc003dpy.3		NaN																	0				lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(1153-1155)GAC>AAC		roundabout, axon guidance receptor, homolog 2							83.0	81.0	82.0					3																	77600062		1934	4144	6078	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77600062G>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1153G>A	3.37:g.77600062G>A	ENSP00000417164:p.Asp385Asn					ROBO2_uc003dpz.2_Missense_Mutation_p.D389N|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.D389N	p.D385N	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	8	1796	+			385			Ig-like C2-type 4.|Extracellular (Potential).		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.1153G>A	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917336	0.73098	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.80994	-1.44;-1.44;-1.44	5.49	5.49	0.81192	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47455	D	0.000236	D	0.92424	0.7595	M	0.92317	3.295	0.47153	D	0.999337	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.92833	0.6282	9	0.51188	T	0.08	.	19.7188	0.96134	0.0:0.0:1.0:0.0	.	401;385;385	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	N	401;401;405;385;385;106	ENSP00000417335:D401N;ENSP00000417164:D385N;ENSP00000327536:D385N	ENSP00000327536:D385N	D	+	1	0	ROBO2	77682752	1.000000	0.71417	0.115000	0.21578	0.071000	0.16799	9.813000	0.99286	2.742000	0.94016	0.591000	0.81541	GAC		0.473	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2		XM_031246		7	74	0	0	0	0.001984	0	7	74		
CCDC80	151887	broad.mit.edu	37	3	112358447	112358447	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:112358447C>T	ENST00000206423.3	-	2	1259	c.306G>A	c.(304-306)gtG>gtA	p.V102V	CCDC80_ENST00000439685.2_Silent_p.V102V|CCDC80_ENST00000475181.1_5'UTR	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	102					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.V102V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GCTCAGGTCTCACGGCGGCCC	0.607																																						uc003dzf.2		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(304-306)GTG>GTA		steroid-sensitive protein 1 precursor							72.0	70.0	71.0					3																	112358447		2203	4300	6503	SO:0001819	synonymous_variant	151887							g.chr3:112358447C>T	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.306G>A	3.37:g.112358447C>T						CCDC80_uc011bhv.1_Silent_p.V102V|CCDC80_uc003dzg.2_Silent_p.V102V|CCDC80_uc003dzh.1_Silent_p.V102V	p.V102V	NM_199512	NP_955806	Q76M96	CCD80_HUMAN			2	524	-			102					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Silent	SNP	ENST00000206423.3	37	c.306G>A	CCDS2968.1																																																																																				0.607	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1		NM_199511		25	135	0	0	0	0.005443	0	25	135		
PRR23B	389151	broad.mit.edu	37	3	138738765	138738765	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:138738765G>A	ENST00000329447.5	-	1	1003	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	247	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCGGCGAGCGCGCGTGGGGA	0.657																																						uc003esy.1		NaN																	0				breast(1)	1						c.(739-741)CGC>TGC		proline rich 23B							16.0	20.0	18.0					3																	138738765		2187	4264	6451	SO:0001583	missense	389151							g.chr3:138738765G>A	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.739C>T	3.37:g.138738765G>A	ENSP00000328768:p.Arg247Cys						p.R247C	NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN			1	1004	-			247			Pro-rich.		B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.739C>T	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	G	9.327	1.059521	0.19987	.	.	ENSG00000184814	ENST00000329447	.	.	.	3.63	1.8	0.24995	.	0.953646	0.08641	N	0.915560	T	0.29945	0.0749	L	0.38531	1.155	0.09310	N	1	B	0.29232	0.238	B	0.22880	0.042	T	0.24621	-1.0155	9	0.52906	T	0.07	.	5.4123	0.16354	0.1143:0.2034:0.6823:0.0	.	247	Q6ZRT6	PR23B_HUMAN	C	247	.	ENSP00000328768:R247C	R	-	1	0	PRR23B	140221455	0.052000	0.20516	0.002000	0.10522	0.042000	0.13812	1.728000	0.38105	0.503000	0.28060	-0.137000	0.14449	CGC		0.657	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1		NM_001013650		12	84	0	0	0	0.010729	0	12	84		
LRRIQ4	344657	broad.mit.edu	37	3	169540297	169540297	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:169540297C>T	ENST00000340806.6	+	1	588	c.588C>T	c.(586-588)gaC>gaT	p.D196D		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	196								p.D196D(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTGACCTGGACGAGAACAAAA	0.517																																						uc003fgb.2		NaN																	1	Substitution - coding silent(1)		endometrium(1)		0						c.(586-588)GAC>GAT		leucine-rich repeats and IQ motif containing 4							88.0	90.0	89.0					3																	169540297		1867	4104	5971	SO:0001819	synonymous_variant	344657							g.chr3:169540297C>T		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.588C>T	3.37:g.169540297C>T							p.D196D	NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN			1	588	+			196			LRR 8.			Silent	SNP	ENST00000340806.6	37	c.588C>T	CCDS46951.1																																																																																				0.517	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1		NM_001080460		12	142	0	0	0	0.010729	0	12	142		
SMCO1	255798	broad.mit.edu	37	3	196234952	196234952	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:196234952C>T	ENST00000397537.2	-	3	607	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K		NM_001077657.1	NP_001071125.1	Q147U7	SMCO1_HUMAN	single-pass membrane protein with coiled-coil domains 1	151						integral component of membrane (GO:0016021)											GTATAGTGTTCTGCCTTGTTA	0.463																																						uc003fws.2		NaN																	0				ovary(1)	1						c.(451-453)GAA>AAA		hypothetical protein LOC255798							171.0	164.0	166.0					3																	196234952		2073	4197	6270	SO:0001583	missense	255798					integral to membrane		g.chr3:196234952C>T	AK123917	CCDS43192.1	3q29	2013-03-08	2013-03-08	2013-03-08	ENSG00000214097	ENSG00000214097			27407	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 43"""	C3orf43			Standard	NM_001077657		Approved	FLJ41923, DKFZp313B0440		Q147U7	OTTHUMG00000155581	ENST00000397537.2:c.451G>A	3.37:g.196234952C>T	ENSP00000380671:p.Glu151Lys					C3orf43_uc003fwr.2_Missense_Mutation_p.E143K	p.E151K	NM_001077657	NP_001071125	Q147U7	CC043_HUMAN	Epithelial(36;2.13e-23)|all cancers(36;2e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00298)	3	608	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		151					B3KW20	Missense_Mutation	SNP	ENST00000397537.2	37	c.451G>A	CCDS43192.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808414	0.50421	.	.	ENSG00000214097	ENST00000397537	T	0.39592	1.07	5.29	4.36	0.52297	.	.	.	.	.	T	0.29882	0.0747	L	0.34521	1.04	0.29061	N	0.883904	P;P	0.40180	0.573;0.705	B;B	0.41510	0.23;0.359	T	0.05989	-1.0852	9	0.08179	T	0.78	-9.3271	8.2157	0.31509	0.1757:0.6545:0.1698:0.0	.	151;143	Q147U7;E9PGG7	CC043_HUMAN;.	K	151	ENSP00000380671:E151K	ENSP00000380671:E151K	E	-	1	0	C3orf43	197719349	0.079000	0.21365	0.998000	0.56505	0.689000	0.40095	1.348000	0.33987	2.480000	0.83734	0.655000	0.94253	GAA		0.463	SMCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340776.1		NM_001006109		13	105	0	0	0	0.013537	0	13	105		
FGFRL1	53834	broad.mit.edu	37	4	1019074	1019074	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr4:1019074A>T	ENST00000398484.2	+	8	2034	c.1454A>T	c.(1453-1455)cAc>cTc	p.H485L	FGFRL1_ENST00000264748.6_Missense_Mutation_p.H485L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.H485L|RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000510644.1_Missense_Mutation_p.H485L			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	485	His-rich.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			acacacacacactctcacaca	0.607																																						uc003gce.2		NaN																	0					0						c.(1453-1455)CAC>CTC		fibroblast growth factor receptor-like 1							12.0	15.0	14.0					4																	1019074		2176	4280	6456	SO:0001583	missense	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1019074A>T		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1454A>T	4.37:g.1019074A>T	ENSP00000381498:p.His485Leu					FGFRL1_uc003gcf.2_Missense_Mutation_p.H485L|FGFRL1_uc003gcg.2_Missense_Mutation_p.H485L|FGFRL1_uc010ibo.2_Missense_Mutation_p.H485L	p.H485L	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	1615	+			485			His-rich.|Cytoplasmic (Potential).		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	c.1454A>T	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	A	5.972	0.363242	0.11296	.	.	ENSG00000127418	ENST00000398484;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	1.69	1.69	0.24217	.	0.000000	0.36002	N	0.002841	T	0.64249	0.2581	N	0.14661	0.345	0.23293	N	0.997964	D	0.71674	0.998	D	0.73708	0.981	T	0.59958	-0.7356	10	0.02654	T	1	.	5.4666	0.16646	1.0:0.0:0.0:0.0	.	485	Q8N441	FGRL1_HUMAN	L	485	ENSP00000381498:H485L;ENSP00000425025:H485L;ENSP00000423091:H485L;ENSP00000264748:H485L	ENSP00000264748:H485L	H	+	2	0	FGFRL1	1009074	1.000000	0.71417	0.945000	0.38365	0.977000	0.68977	6.796000	0.75145	1.039000	0.40074	0.533000	0.62120	CAC		0.607	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2		NM_021923		3	16	0	0	0	0.004672	0	3	16		
KLB	152831	broad.mit.edu	37	4	39448824	39448824	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr4:39448824C>T	ENST00000257408.4	+	4	2575	c.2478C>T	c.(2476-2478)ttC>ttT	p.F826F		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	826	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TCAACCACTTCACCACTAGGT	0.657																																						uc003gua.2		NaN																	0				skin(1)	1						c.(2476-2478)TTC>TTT		klotho beta							49.0	43.0	45.0					4																	39448824		2203	4300	6503	SO:0001819	synonymous_variant	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39448824C>T	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2478C>T	4.37:g.39448824C>T						KLB_uc011byj.1_Silent_p.F817F	p.F826F	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN			4	2575	+			826			Extracellular (Potential).|Glycosyl hydrolase-1 2.		Q2M3K8	Silent	SNP	ENST00000257408.4	37	c.2478C>T	CCDS3451.1																																																																																				0.657	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1		NM_175737		21	90	0	0	0	0.010504	0	21	90		
LRRC66	339977	broad.mit.edu	37	4	52861415	52861415	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr4:52861415C>T	ENST00000343457.3	-	4	1779	c.1773G>A	c.(1771-1773)atG>atA	p.M591I		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	591						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CATGTGTTAGCATTTTACAGA	0.483																																						uc003gzi.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1771-1773)ATG>ATA		leucine rich repeat containing 66							92.0	96.0	95.0					4																	52861415		2054	4230	6284	SO:0001583	missense	339977					integral to membrane		g.chr4:52861415C>T	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1773G>A	4.37:g.52861415C>T	ENSP00000341944:p.Met591Ile						p.M591I	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	1786	-			591						Missense_Mutation	SNP	ENST00000343457.3	37	c.1773G>A	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	7.693	0.691458	0.15039	.	.	ENSG00000188993	ENST00000343457	T	0.28895	1.59	4.3	-2.21	0.06973	.	1.233450	0.05598	N	0.575760	T	0.17492	0.0420	L	0.27053	0.805	0.09310	N	1	B	0.19331	0.035	B	0.12156	0.007	T	0.28902	-1.0029	10	0.52906	T	0.07	-0.1058	0.3582	0.00360	0.2793:0.2198:0.1371:0.3638	.	591	Q68CR7	LRC66_HUMAN	I	591	ENSP00000341944:M591I	ENSP00000341944:M591I	M	-	3	0	LRRC66	52556172	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.297000	0.08276	-0.288000	0.09051	0.591000	0.81541	ATG		0.483	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1		NM_001024611		13	172	0	0	0	0.013537	0	13	172		
LRRC66	339977	broad.mit.edu	37	4	52861829	52861829	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr4:52861829C>T	ENST00000343457.3	-	4	1365	c.1359G>A	c.(1357-1359)gaG>gaA	p.E453E		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	453						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GGGTCTGGTTCTCGTAGAGGC	0.542																																						uc003gzi.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1357-1359)GAG>GAA		leucine rich repeat containing 66							86.0	91.0	89.0					4																	52861829		2024	4174	6198	SO:0001819	synonymous_variant	339977					integral to membrane		g.chr4:52861829C>T	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1359G>A	4.37:g.52861829C>T							p.E453E	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	1372	-			453						Silent	SNP	ENST00000343457.3	37	c.1359G>A	CCDS43229.1																																																																																				0.542	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1		NM_001024611		11	115	0	0	0	0.008291	0	11	115		
IGJ	3512	broad.mit.edu	37	4	71527924	71527924	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr4:71527924C>T	ENST00000254801.4	-	2	242	c.73G>A	c.(73-75)Gat>Aat	p.D25N	ENAM_ENST00000472903.1_3'UTR|IGJ_ENST00000543780.1_Missense_Mutation_p.D41N	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	25					adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|dimeric IgA immunoglobulin complex (GO:0071750)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|pentameric IgM immunoglobulin complex (GO:0071756)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			ATCCTTTCATCTTCTTGGGCT	0.358																																						uc003hfn.3		NaN																	0					0						c.(73-75)GAT>AAT		immunoglobulin J chain							97.0	93.0	94.0					4																	71527924		2203	4300	6503	SO:0001583	missense	3512				immune response	extracellular region	antigen binding	g.chr4:71527924C>T	M12759	CCDS3545.1	4q21	2012-10-02			ENSG00000132465	ENSG00000132465		"""Immunoglobulins / IGJ linker"""	5713	protein-coding gene	gene with protein product	"""immunoglobulin J chain"", ""IgJ chain"""	147790				3016707, 2984306	Standard	NM_144646		Approved	IGCJ, JCH	uc003hfn.4	P01591	OTTHUMG00000129909	ENST00000254801.4:c.73G>A	4.37:g.71527924C>T	ENSP00000254801:p.Asp25Asn					IGJ_uc010ihz.2_Missense_Mutation_p.D41N	p.D25N	NM_144646	NP_653247	P01591	IGJ_HUMAN	Lung(101;0.235)		2	214	-			25						Missense_Mutation	SNP	ENST00000254801.4	37	c.73G>A	CCDS3545.1	.	.	.	.	.	.	.	.	.	.	C	7.904	0.735095	0.15574	.	.	ENSG00000132465	ENST00000254801;ENST00000510437;ENST00000543780;ENST00000510614;ENST00000391614;ENST00000470866	.	.	.	5.43	3.7	0.42460	.	1.066970	0.07218	N	0.860410	T	0.30417	0.0764	N	0.17082	0.46	0.19775	N	0.999952	B;B	0.16603	0.001;0.018	B;B	0.19946	0.01;0.027	T	0.29427	-1.0012	9	0.37606	T	0.19	.	9.8257	0.40910	0.0:0.8357:0.0:0.1643	.	41;25	D6RHJ6;P01591	.;IGJ_HUMAN	N	25;25;41;34;41;25	.	ENSP00000254801:D25N	D	-	1	0	IGJ	71746788	0.563000	0.26594	0.032000	0.17829	0.080000	0.17528	1.723000	0.38053	0.653000	0.30826	0.650000	0.86243	GAT		0.358	IGJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252160.1		NM_144646		11	68	0	0	0	0.008291	0	11	68		
SMARCAD1	56916	broad.mit.edu	37	4	95170811	95170811	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr4:95170811G>T	ENST00000354268.4	+	7	785	c.712G>T	c.(712-714)Gaa>Taa	p.E238*	SMARCAD1_ENST00000457823.2_Nonsense_Mutation_p.E238*			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	238					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TTAGGGAGAGGAATCAAATGA	0.323																																						uc003htc.3		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(712-714)GAA>TAA		SWI/SNF-related, matrix-associated							79.0	85.0	83.0					4																	95170811		2203	4297	6500	SO:0001587	stop_gained	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95170811G>T	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.712G>T	4.37:g.95170811G>T	ENSP00000346217:p.Glu238*					SMARCAD1_uc003htb.3_Nonsense_Mutation_p.E238*|SMARCAD1_uc003htd.3_Nonsense_Mutation_p.E238*|SMARCAD1_uc010ila.2_Nonsense_Mutation_p.E101*	p.E238*	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	7	967	+			238					B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Nonsense_Mutation	SNP	ENST00000354268.4	37	c.712G>T	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	G	38	7.162884	0.98107	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000536267;ENST00000354268	.	.	.	6.16	6.16	0.99307	.	0.147158	0.30809	N	0.008838	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-27.1552	17.5927	0.88001	0.0:0.0:1.0:0.0	.	.	.	.	X	238	.	ENSP00000346217:E238X	E	+	1	0	SMARCAD1	95389834	0.972000	0.33761	0.641000	0.29422	0.352000	0.29268	5.327000	0.65881	2.937000	0.99478	0.650000	0.86243	GAA		0.323	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1		NM_020159		8	44	1	0	1.06961e-07	0.00308	1.1414e-07	8	44		
BANK1	55024	broad.mit.edu	37	4	102946423	102946423	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr4:102946423G>C	ENST00000322953.4	+	9	1625	c.1351G>C	c.(1351-1353)Gag>Cag	p.E451Q	BANK1_ENST00000444316.2_Missense_Mutation_p.E421Q|BANK1_ENST00000504592.1_Missense_Mutation_p.E436Q|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000428908.1_Missense_Mutation_p.E318Q|BANK1_ENST00000508653.1_Missense_Mutation_p.E318Q|BANK1_ENST00000510950.1_3'UTR	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	451					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AGATGGAGCTGAGGCAAATGA	0.453																																						uc003hvy.3		NaN																	0				ovary(2)|skin(1)	3						c.(1351-1353)GAG>CAG		B-cell scaffold protein with ankyrin repeats 1							216.0	204.0	208.0					4																	102946423		2203	4300	6503	SO:0001583	missense	55024				B cell activation			g.chr4:102946423G>C	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.1351G>C	4.37:g.102946423G>C	ENSP00000320509:p.Glu451Gln					BANK1_uc003hvx.3_Missense_Mutation_p.E436Q|BANK1_uc010ill.2_Missense_Mutation_p.E318Q|BANK1_uc003hvz.3_Missense_Mutation_p.E421Q	p.E451Q	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	9	1625	+		Hepatocellular(203;0.217)	451					A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	c.1351G>C	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.522519	0.44866	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.19105	2.85;2.85;2.17;2.17;2.85	5.05	-0.59	0.11679	.	1.827190	0.03156	N	0.168649	T	0.20700	0.0498	L	0.46157	1.445	0.09310	N	1	B;B;B	0.22909	0.077;0.077;0.077	B;B;B	0.26094	0.066;0.037;0.066	T	0.28902	-1.0029	10	0.39692	T	0.17	.	6.1995	0.20567	0.248:0.2509:0.5011:0.0	.	318;451;436	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	Q	436;451;318;318;421	ENSP00000421443:E436Q;ENSP00000320509:E451Q;ENSP00000412748:E318Q;ENSP00000422314:E318Q;ENSP00000388817:E421Q	ENSP00000320509:E451Q	E	+	1	0	BANK1	103165446	0.378000	0.25114	0.000000	0.03702	0.004000	0.04260	1.494000	0.35616	-0.069000	0.12931	-0.229000	0.12294	GAG		0.453	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1		NM_017935		14	118	0	0	0	0.001855	0	14	118		
FAT4	79633	broad.mit.edu	37	4	126240575	126240575	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr4:126240575C>T	ENST00000394329.3	+	1	3022	c.3009C>T	c.(3007-3009)gtC>gtT	p.V1003V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1003	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTTATGAAGTCACCCTTTCTG	0.408																																						uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(3007-3009)GTC>GTT		FAT tumor suppressor homolog 4 precursor							119.0	112.0	114.0					4																	126240575		1895	4117	6012	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240575C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3009C>T	4.37:g.126240575C>T							p.V1003V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	3009	+			1003			Cadherin 10.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.3009C>T	CCDS3732.3																																																																																				0.408	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		7	93	0	0	0	0.004482	0	7	93		
FAT4	79633	broad.mit.edu	37	4	126411502	126411502	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr4:126411502G>A	ENST00000394329.3	+	17	13538	c.13525G>A	c.(13525-13527)Gtg>Atg	p.V4509M	FAT4_ENST00000335110.5_Missense_Mutation_p.V2750M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4509					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCCTGCCATCGTGGGCAGCTG	0.577																																						uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(13525-13527)GTG>ATG		FAT tumor suppressor homolog 4 precursor							67.0	67.0	67.0					4																	126411502		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411502G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13525G>A	4.37:g.126411502G>A	ENSP00000377862:p.Val4509Met					FAT4_uc011cgp.1_Missense_Mutation_p.V2750M|FAT4_uc003ifi.1_Missense_Mutation_p.V1986M	p.V4509M	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			17	13525	+			4509			Helical; (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.13525G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195804	0.78902	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.77750	-0.89;-1.12	5.17	5.17	0.71159	.	0.000000	0.31233	U	0.008019	D	0.83788	0.5330	L	0.51914	1.62	0.58432	D	0.999991	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.61132	0.884;0.862;0.884	D	0.85387	0.1123	10	0.66056	D	0.02	.	17.6678	0.88208	0.0:0.0:1.0:0.0	.	2750;4509;4508	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	M	4509;2750	ENSP00000377862:V4509M;ENSP00000335169:V2750M	ENSP00000335169:V2750M	V	+	1	0	FAT4	126630952	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.502000	0.97981	2.395000	0.81488	0.561000	0.74099	GTG		0.577	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		10	111	0	0	0	0.006214	0	10	111		
LRBA	987	broad.mit.edu	37	4	151771906	151771906	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr4:151771906G>A	ENST00000357115.3	-	24	4217	c.3974C>T	c.(3973-3975)tCa>tTa	p.S1325L	LRBA_ENST00000535741.1_Missense_Mutation_p.S1325L|LRBA_ENST00000507224.1_Missense_Mutation_p.S1325L|LRBA_ENST00000510413.1_Missense_Mutation_p.S1325L	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1325						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGTTTCTATTGAAAATAATAG	0.343																																						uc010ipj.2		NaN																	0				ovary(3)|breast(3)|skin(1)	7						c.(3973-3975)TCA>TTA		LPS-responsive vesicle trafficking, beach and							97.0	96.0	96.0					4																	151771906		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151771906G>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.3974C>T	4.37:g.151771906G>A	ENSP00000349629:p.Ser1325Leu					LRBA_uc003ilt.3_5'Flank|LRBA_uc003ilu.3_Missense_Mutation_p.S1325L	p.S1325L	NM_006726	NP_006717	P50851	LRBA_HUMAN			24	4448	-	all_hematologic(180;0.151)		1325			WD 1.		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.3974C>T	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.814019	0.90790	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.60797	0.58;0.73;0.58;0.16	5.96	5.96	0.96718	.	0.144156	0.47852	D	0.000205	T	0.56232	0.1971	L	0.39898	1.24	0.80722	D	1	B;B	0.33694	0.297;0.421	B;B	0.36289	0.11;0.221	T	0.57189	-0.7854	10	0.72032	D	0.01	.	20.394	0.98981	0.0:0.0:1.0:0.0	.	1325;1325	P50851;P50851-2	LRBA_HUMAN;.	L	1325	ENSP00000446299:S1325L;ENSP00000421552:S1325L;ENSP00000349629:S1325L;ENSP00000422180:S1325L	ENSP00000349629:S1325L	S	-	2	0	LRBA	151991356	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.441000	0.97557	2.830000	0.97506	0.585000	0.79938	TCA		0.343	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1				5	23	0	0	0	0.000602	0	5	23		
FBXW7	55294	broad.mit.edu	37	4	153244185	153244185	+	Nonsense_Mutation	SNP	G	G	A	rs144247898		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr4:153244185G>A	ENST00000281708.4	-	12	3201	c.1972C>T	c.(1972-1974)Cga>Tga	p.R658*	FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R540*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R658*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R658*|RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R482*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R578*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	658					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R658*(3)|p.R578*(1)|p.?(1)|p.R419*(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTAGGTTTCGAATAAATTCA	0.473			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2		NaN		Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		6	Substitution - Nonsense(5)|Unknown(1)	p.R658*(1)	large_intestine(4)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1972-1974)CGA>TGA		F-box and WD repeat domain containing 7 isoform							167.0	164.0	165.0					4																	153244185		2203	4300	6503	SO:0001587	stop_gained	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153244185G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1972C>T	4.37:g.153244185G>A	ENSP00000281708:p.Arg658*					FBXW7_uc011cii.1_Nonsense_Mutation_p.R658*|FBXW7_uc003imt.2_Nonsense_Mutation_p.R658*|FBXW7_uc011cih.1_Nonsense_Mutation_p.R482*|FBXW7_uc003imq.2_Nonsense_Mutation_p.R578*|FBXW7_uc003imr.2_Nonsense_Mutation_p.R540*	p.R658*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			12	2121	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	658			WD 7.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	ENST00000281708.4	37	c.1972C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698056	0.88830	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	5.67	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7715	15.907	0.79439	0.0:0.0:0.8635:0.1365	.	.	.	.	X	658;540;578;482	.	ENSP00000263981:R578X	R	-	1	2	FBXW7	153463635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.632000	0.74281	1.377000	0.46286	0.655000	0.94253	CGA		0.473	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1				8	121	0	0	0	0.004482	0	8	121		
FBXW7	55294	broad.mit.edu	37	4	153247165	153247165	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr4:153247165G>A	ENST00000281708.4	-	10	2866	c.1637C>T	c.(1636-1638)tCa>tTa	p.S546L	FBXW7_ENST00000296555.5_Missense_Mutation_p.S428L|FBXW7_ENST00000603548.1_Missense_Mutation_p.S546L|FBXW7_ENST00000603841.1_Missense_Mutation_p.S546L|FBXW7_ENST00000393956.3_Missense_Mutation_p.S370L|FBXW7_ENST00000263981.5_Missense_Mutation_p.S466L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	546					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TACCTGTAATGAATAGACTCT	0.398			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2		NaN		Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		1	Unknown(1)		haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1636-1638)TCA>TTA		F-box and WD repeat domain containing 7 isoform							146.0	143.0	144.0					4																	153247165		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153247165G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1637C>T	4.37:g.153247165G>A	ENSP00000281708:p.Ser546Leu					FBXW7_uc011cii.1_Missense_Mutation_p.S546L|FBXW7_uc003imt.2_Missense_Mutation_p.S546L|FBXW7_uc011cih.1_Missense_Mutation_p.S370L|FBXW7_uc003imq.2_Missense_Mutation_p.S466L|FBXW7_uc003imr.2_Missense_Mutation_p.S428L	p.S546L	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			10	1786	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	546			WD 5.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1637C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232249	0.95207	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84624	0.5513	M	0.91920	3.255	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.997;0.997	D	0.86952	0.2086	10	0.87932	D	0	-13.0123	20.2406	0.98372	0.0:0.0:1.0:0.0	.	370;546;428;466	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	L	546;428;466;370	ENSP00000281708:S546L;ENSP00000296555:S428L;ENSP00000263981:S466L;ENSP00000377528:S370L	ENSP00000263981:S466L	S	-	2	0	FBXW7	153466615	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.857000	0.98124	0.650000	0.86243	TCA		0.398	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1				13	86	0	0	0	0.001855	0	13	86		
DROSHA	29102	broad.mit.edu	37	5	31521263	31521263	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr5:31521263C>G	ENST00000511367.2	-	5	1158	c.914G>C	c.(913-915)aGg>aCg	p.R305T	DROSHA_ENST00000513349.1_Missense_Mutation_p.R305T|DROSHA_ENST00000442743.1_Missense_Mutation_p.R305T|DROSHA_ENST00000344624.3_Missense_Mutation_p.R305T	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	305	Arg-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						TTTGTAGGACCTTTCCAGAGA	0.408																																						uc003jhg.2		NaN																	0					0						c.(913-915)AGG>ACG		ribonuclease III, nuclear isoform 1							278.0	258.0	264.0					5																	31521263		1908	4119	6027	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.chr5:31521263C>G	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.914G>C	5.37:g.31521263C>G	ENSP00000425979:p.Arg305Thr					RNASEN_uc003jhh.2_Missense_Mutation_p.R305T|RNASEN_uc003jhi.2_Missense_Mutation_p.R305T|RNASEN_uc010iui.1_Intron	p.R305T	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN			5	1273	-			305			Arg-rich.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.914G>C	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444406	0.63178	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000382188	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	6.17	5.31	0.75309	.	0.085679	0.85682	D	0.000000	T	0.58264	0.2110	N	0.24115	0.695	0.53005	D	0.999963	D;D	0.54601	0.967;0.967	D;D	0.63597	0.916;0.916	T	0.62501	-0.6841	10	0.56958	D	0.05	-17.6269	15.3755	0.74602	0.0:0.934:0.0:0.066	.	305;305	E7EMP9;Q9NRR4	.;RNC_HUMAN	T	305;305;305;305;298	ENSP00000425979:R305T;ENSP00000339845:R305T;ENSP00000409335:R305T;ENSP00000424161:R305T	ENSP00000339845:R305T	R	-	2	0	DROSHA	31557020	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.377000	0.59562	1.631000	0.50456	0.655000	0.94253	AGG		0.408	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3		NM_013235		12	154	0	0	0	0.001855	0	12	154		
GOLPH3	64083	broad.mit.edu	37	5	32143969	32143969	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr5:32143969C>A	ENST00000265070.6	-	2	558	c.243G>T	c.(241-243)tgG>tgT	p.W81C	GOLPH3_ENST00000512668.1_Intron	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	81					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						TACAGTCATTCCAAAATGATG	0.318																																						uc003jhp.1		NaN																	0				ovary(1)	1						c.(241-243)TGG>TGT		golgi phosphoprotein 3							85.0	86.0	85.0					5																	32143969		2203	4300	6503	SO:0001583	missense	64083				cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	g.chr5:32143969C>A	AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"""golgi peripheral membrane protein 1, 34 kDa"", ""golgi protein"", ""coat-protein"", ""golgi-associated protein"""	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.243G>T	5.37:g.32143969C>A	ENSP00000265070:p.Trp81Cys						p.W81C	NM_022130	NP_071413	Q9H4A6	GOLP3_HUMAN			2	528	-			81					Q9UIW5	Missense_Mutation	SNP	ENST00000265070.6	37	c.243G>T	CCDS3896.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112912	0.77210	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	5.05	5.05	0.67936	.	0.057915	0.85682	D	0.000000	D	0.86543	0.5958	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.90139	0.4212	9	0.66056	D	0.02	.	18.4742	0.90786	0.0:1.0:0.0:0.0	.	81	Q9H4A6	GOLP3_HUMAN	C	81;64	.	ENSP00000265070:W81C	W	-	3	0	GOLPH3	32179726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.705000	0.84606	2.345000	0.79718	0.644000	0.83932	TGG		0.318	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2		NM_022130		8	68	1	0	1.06961e-07	0.00308	1.1414e-07	8	68		
WDR70	55100	broad.mit.edu	37	5	37727078	37727078	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr5:37727078G>A	ENST00000265107.4	+	17	1964	c.1808G>A	c.(1807-1809)cGg>cAg	p.R603Q		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	603							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTAATCCTCGGGAAGCCATT	0.463																																						uc003jkv.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1807-1809)CGG>CAG		WD repeat domain 70							89.0	87.0	88.0					5																	37727078		2203	4300	6503	SO:0001583	missense	55100							g.chr5:37727078G>A	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1808G>A	5.37:g.37727078G>A	ENSP00000265107:p.Arg603Gln						p.R603Q	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		17	1866	+	all_lung(31;0.000285)		603					Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	c.1808G>A	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	G	35	5.562190	0.96527	.	.	ENSG00000082068	ENST00000265107	T	0.79352	-1.26	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.90157	0.6924	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	D	0.91433	0.5167	10	0.87932	D	0	-29.3986	19.7297	0.96177	0.0:0.0:1.0:0.0	.	603	Q9NW82	WDR70_HUMAN	Q	603	ENSP00000265107:R603Q	ENSP00000265107:R603Q	R	+	2	0	WDR70	37762835	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.167000	0.94773	2.658000	0.90341	0.650000	0.86243	CGG		0.463	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1		NM_018034		8	91	0	0	0	0.00308	0	8	91		
IQGAP2	10788	broad.mit.edu	37	5	75902129	75902129	+	Splice_Site	SNP	G	G	A	rs567170085		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr5:75902129G>A	ENST00000274364.6	+	12	1654		c.e12+1		IQGAP2_ENST00000379730.3_Splice_Site|CTD-2236F14.1_ENST00000511327.1_RNA|IQGAP2_ENST00000502745.1_5'Flank|IQGAP2_ENST00000396234.3_5'Flank	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2						negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAAAATGACCGTAAGTATAAG	0.348													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19461	0.0		0.0	False		,,,				2504	0.0					uc003kek.2		NaN																	0				ovary(6)|central_nervous_system(1)	7						c.e12+1		IQ motif containing GTPase activating protein 2							76.0	75.0	75.0					5																	75902129		2203	4299	6502	SO:0001630	splice_region_variant	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75902129G>A	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.1357+1G>A	5.37:g.75902129G>A						IQGAP2_uc010izv.2_5'Flank|IQGAP2_uc011csv.1_5'Flank|IQGAP2_uc003kel.2_5'Flank	p.R453_splice	NM_006633	NP_006624	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	12	1579	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)						A8K4V1|B7Z8A4|J3KR91	Splice_Site	SNP	ENST00000274364.6	37	c.1357_splice	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313269	0.81358	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000514350;ENST00000505766	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1593	0.93525	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IQGAP2	75937885	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	8.250000	0.89835	2.609000	0.88269	0.650000	0.86243	.		0.348	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1		NM_006633	Intron	3	35	0	0	0	0.004672	0	3	35		
PPIP5K2	23262	broad.mit.edu	37	5	102518935	102518935	+	Splice_Site	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr5:102518935G>A	ENST00000358359.3	+	25	3432	c.2923G>A	c.(2923-2925)Gaa>Aaa	p.E975K	PPIP5K2_ENST00000414217.1_Splice_Site_p.E975K|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Splice_Site_p.E975K	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	975					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCACTTCCAGGAAGAGAGCCC	0.443																																						uc003kod.3		NaN																	0				ovary(1)|skin(1)	2						c.(2923-2925)GAA>AAA		Histidine acid phosphatase domain containing 1							56.0	56.0	56.0					5																	102518935		2203	4300	6503	SO:0001630	splice_region_variant	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102518935G>A	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.2923-1G>A	5.37:g.102518935G>A						PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.E975K|PPIP5K2_uc003kof.2_Intron	p.E975K	NM_015216	NP_056031	O43314	VIP2_HUMAN			25	3442	+			975					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.2923G>A		.	.	.	.	.	.	.	.	.	.	G	5.821	0.335824	0.11013	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T	0.14022	2.54;2.54;2.54	5.76	4.89	0.63831	.	0.000000	0.56097	D	0.000022	T	0.21801	0.0525	L	0.44542	1.39	0.58432	D	0.999999	D;B	0.56968	0.978;0.128	P;B	0.53649	0.731;0.065	T	0.00219	-1.1907	9	.	.	.	.	15.1983	0.73112	0.0686:0.0:0.9314:0.0	.	975;975	O43314-2;O43314	.;VIP2_HUMAN	K	975;975;990;975	ENSP00000313070:E975K;ENSP00000351126:E975K;ENSP00000416016:E975K	.	E	+	1	0	PPIP5K2	102546834	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.263000	0.72521	2.724000	0.93272	0.491000	0.48974	GAA		0.443	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1		NM_015216	Missense_Mutation	6	36	0	0	0	0.001168	0	6	36		
SHROOM1	134549	broad.mit.edu	37	5	132160002	132160002	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr5:132160002C>G	ENST00000378679.3	-	7	2155	c.1351G>C	c.(1351-1353)Gat>Cat	p.D451H	SHROOM1_ENST00000319854.3_Missense_Mutation_p.D451H|SHROOM1_ENST00000378676.1_Missense_Mutation_p.D382H|SHROOM1_ENST00000488072.1_5'Flank	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	451					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGCAGTCATCTGCCCCTGCA	0.557																																						uc003kxx.2		NaN																	0				pancreas(1)	1						c.(1351-1353)GAT>CAT		shroom family member 1							67.0	63.0	64.0					5																	132160002		2203	4300	6503	SO:0001583	missense	134549				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	g.chr5:132160002C>G	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.1351G>C	5.37:g.132160002C>G	ENSP00000367950:p.Asp451His					SHROOM1_uc003kxy.1_Missense_Mutation_p.D451H	p.D451H	NM_133456	NP_597713	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	2156	-			451					B7WP40|B7ZL01|Q8TDP0|Q8TF41	Missense_Mutation	SNP	ENST00000378679.3	37	c.1351G>C	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499489	0.44455	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676	T;T;T	0.28255	1.62;1.62;1.63	4.11	3.21	0.36854	.	1.469060	0.03641	N	0.239527	T	0.43590	0.1254	L	0.29908	0.895	0.09310	N	1	D;D	0.71674	0.998;0.997	D;P	0.64321	0.924;0.841	T	0.35076	-0.9803	10	0.62326	D	0.03	-0.0758	9.082	0.36558	0.2182:0.7818:0.0:0.0	.	451;451	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	H	451;451;382	ENSP00000367950:D451H;ENSP00000324245:D451H;ENSP00000367947:D382H	ENSP00000324245:D451H	D	-	1	0	SHROOM1	132187901	0.001000	0.12720	0.012000	0.15200	0.695000	0.40330	0.757000	0.26433	1.266000	0.44231	0.561000	0.74099	GAT		0.557	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1		NM_133456		6	38	0	0	0	0.001168	0	6	38		
PCDHA1	56147	broad.mit.edu	37	5	140167320	140167320	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr5:140167320C>T	ENST00000504120.2	+	1	1445	c.1445C>T	c.(1444-1446)gCg>gTg	p.A482V	PCDHA1_ENST00000378133.3_Missense_Mutation_p.A482V|PCDHA1_ENST00000394633.3_Missense_Mutation_p.A482V	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	482	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGGACGCGGACGCGCAG	0.657																																						uc003lhb.2		NaN																	0				skin(1)	1						c.(1444-1446)GCG>GTG		protocadherin alpha 1 isoform 1 precursor							65.0	70.0	68.0					5																	140167320		2203	4299	6502	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140167320C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1445C>T	5.37:g.140167320C>T	ENSP00000420840:p.Ala482Val					PCDHA1_uc003lha.2_Missense_Mutation_p.A482V|PCDHA1_uc003lgz.2_Missense_Mutation_p.A482V	p.A482V	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1445	+			482			Cadherin 5.|Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1445C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	11.28	1.592394	0.28357	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.01228	5.14;5.14;5.14	3.6	2.72	0.32119	Cadherin (4);Cadherin-like (1);	0.678240	0.11838	U	0.524597	T	0.01222	0.0040	N	0.20610	0.595	0.26177	N	0.979789	P;B;B	0.34800	0.469;0.382;0.414	B;B;B	0.24269	0.052;0.049;0.049	T	0.50575	-0.8812	10	0.66056	D	0.02	.	11.1118	0.48237	0.0:0.9066:0.0:0.0934	.	482;482;482	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	V	482	ENSP00000420840:A482V;ENSP00000378129:A482V;ENSP00000367373:A482V	ENSP00000367373:A482V	A	+	2	0	PCDHA1	140147504	0.948000	0.32251	0.788000	0.31933	0.111000	0.19643	2.991000	0.49409	0.648000	0.30732	0.479000	0.44913	GCG		0.657	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1		NM_018900		9	173	0	0	0	0.010729	0	9	173		
PCDHA9	9752	broad.mit.edu	37	5	140230132	140230132	+	Silent	SNP	G	G	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr5:140230132G>T	ENST00000532602.1	+	1	3085	c.2052G>T	c.(2050-2052)gtG>gtT	p.V684V	PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.V684V|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	684					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGTCAGTGGGTGCCACGG	0.652																																					Melanoma(55;1800 1972 14909)	uc003lhu.2		NaN																	0				large_intestine(2)|ovary(2)|skin(1)	5						c.(2050-2052)GTG>GTT		protocadherin alpha 9 isoform 1 precursor							50.0	50.0	50.0					5																	140230132		2196	4271	6467	SO:0001819	synonymous_variant	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140230132G>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2052G>T	5.37:g.140230132G>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.V684V	p.V684V	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2776	+			684			Extracellular (Potential).		O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.2052G>T	CCDS54920.1																																																																																				0.652	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2		NM_031857		26	117	1	0	3.28513e-13	0.003954	3.60231e-13	26	117		
ARAP3	64411	broad.mit.edu	37	5	141050834	141050834	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr5:141050834G>C	ENST00000239440.4	-	13	2053	c.1988C>G	c.(1987-1989)tCa>tGa	p.S663*	ARAP3_ENST00000508305.1_Intron|ARAP3_ENST00000513878.1_Nonsense_Mutation_p.S325*	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	663					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGAATGACCTGAGGGCAAGAG	0.572																																						uc003llm.2		NaN																	0				breast(5)|ovary(1)|large_intestine(1)	7						c.(1987-1989)TCA>TGA		ArfGAP with RhoGAP domain, ankyrin repeat and PH							50.0	53.0	52.0					5																	141050834		2203	4300	6503	SO:0001587	stop_gained	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141050834G>C	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1988C>G	5.37:g.141050834G>C	ENSP00000239440:p.Ser663*					ARAP3_uc011dbe.1_Nonsense_Mutation_p.S325*|ARAP3_uc003lln.2_Intron	p.S663*	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			13	2066	-			663					B4DIT1|D3DQE3	Nonsense_Mutation	SNP	ENST00000239440.4	37	c.1988C>G	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588177	0.66105	.	.	ENSG00000120318	ENST00000239440;ENST00000513878	.	.	.	3.55	2.55	0.30701	.	1.242340	0.05896	U	0.629098	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	5.1091	0.14800	0.1716:0.0:0.8284:0.0	.	.	.	.	X	663;325	.	ENSP00000239440:S663X	S	-	2	0	ARAP3	141031018	0.995000	0.38212	0.801000	0.32222	0.071000	0.16799	2.712000	0.47186	1.814000	0.52955	0.563000	0.77884	TCA		0.572	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1		NM_022481		13	71	0	0	0	0.004007	0	13	71		
LARS	51520	broad.mit.edu	37	5	145512562	145512562	+	Silent	SNP	G	G	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr5:145512562G>T	ENST00000394434.2	-	23	2461	c.2295C>A	c.(2293-2295)ctC>ctA	p.L765L	LARS_ENST00000510191.1_Silent_p.L711L|LARS_ENST00000545646.1_Silent_p.L719L|LARS_ENST00000274562.9_Silent_p.L738L	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	765					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TGTACAGACGGAGAATACCTG	0.478																																						uc003lnx.1		NaN																	0					0						c.(2293-2295)CTC>CTA		leucyl-tRNA synthetase	L-Leucine(DB00149)						107.0	96.0	100.0					5																	145512562		2203	4300	6503	SO:0001819	synonymous_variant	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145512562G>T	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.2295C>A	5.37:g.145512562G>T						LARS_uc003lnw.1_5'Flank|LARS_uc011dbq.1_Silent_p.L719L|LARS_uc011dbr.1_Silent_p.L711L|LARS_uc011dbs.1_Silent_p.L738L	p.L765L	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		23	2533	-			765					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Silent	SNP	ENST00000394434.2	37	c.2295C>A	CCDS34265.1																																																																																				0.478	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1		NM_020117		7	56	1	0	2.0095e-06	0.001984	2.12299e-06	7	56		
GABRB2	2561	broad.mit.edu	37	5	160757993	160757993	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr5:160757993A>G	ENST00000393959.1	-	8	973	c.974T>C	c.(973-975)cTa>cCa	p.L325P	GABRB2_ENST00000353437.6_Missense_Mutation_p.L325P|GABRB2_ENST00000517901.1_Missense_Mutation_p.L262P|GABRB2_ENST00000520240.1_Missense_Mutation_p.L325P|GABRB2_ENST00000274547.2_Missense_Mutation_p.L325P|GABRB2_ENST00000517547.1_Missense_Mutation_p.L165P			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	325					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTAGTTGACTAGGGCATATTC	0.512																																						uc003lys.1		NaN																	0					0						c.(973-975)CTA>CCA		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						119.0	120.0	120.0					5																	160757993		2203	4300	6503	SO:0001583	missense	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160757993A>G		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.974T>C	5.37:g.160757993A>G	ENSP00000377531:p.Leu325Pro					GABRB2_uc011deh.1_Missense_Mutation_p.L164P|GABRB2_uc003lyr.1_Missense_Mutation_p.L325P|GABRB2_uc003lyt.1_Missense_Mutation_p.L325P|GABRB2_uc010jiu.1_Missense_Mutation_p.L262P	p.L325P	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1192	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	325			Helical; (Probable).		A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.974T>C	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	A	18.77	3.694206	0.68386	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	5.26	5.26	0.73747	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.264721	0.31071	N	0.008311	D	0.90106	0.6909	M	0.67569	2.06	0.80722	D	1	D;P;D;P	0.58970	0.983;0.6;0.984;0.545	P;P;P;P	0.60541	0.876;0.489;0.861;0.477	D	0.90483	0.4461	10	0.51188	T	0.08	.	15.1774	0.72924	1.0:0.0:0.0:0.0	.	165;262;325;325	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	P	325;325;325;325;262;165	ENSP00000377531:L325P;ENSP00000274547:L325P;ENSP00000274546:L325P;ENSP00000429320:L325P;ENSP00000430532:L262P;ENSP00000429750:L165P	ENSP00000274547:L325P	L	-	2	0	GABRB2	160690571	0.997000	0.39634	0.979000	0.43373	0.866000	0.49608	7.470000	0.80973	1.984000	0.57885	0.460000	0.39030	CTA		0.512	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1				21	93	0	0	0	0.008871	0	21	93		
TENM2	57451	broad.mit.edu	37	5	167645734	167645734	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr5:167645734A>G	ENST00000518659.1	+	23	4877	c.4838A>G	c.(4837-4839)tAc>tGc	p.Y1613C	TENM2_ENST00000520394.1_Missense_Mutation_p.Y1374C|TENM2_ENST00000519204.1_Missense_Mutation_p.Y1492C|TENM2_ENST00000403607.2_Missense_Mutation_p.Y1437C|TENM2_ENST00000545108.1_Missense_Mutation_p.Y1612C	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1613					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										ACAGGGGAGTACTTGTACAAT	0.473																																						uc010jjd.2		NaN																	0				ovary(6)|central_nervous_system(4)	10						c.(4810-4812)TAC>TGC		odz, odd Oz/ten-m homolog 2							105.0	104.0	104.0					5																	167645734		2013	4183	6196	SO:0001583	missense	57451							g.chr5:167645734A>G	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4838A>G	5.37:g.167645734A>G	ENSP00000429430:p.Tyr1613Cys					ODZ2_uc003lzr.3_Missense_Mutation_p.Y1374C|ODZ2_uc003lzt.3_Missense_Mutation_p.Y977C|ODZ2_uc010jje.2_Missense_Mutation_p.Y868C	p.Y1604C	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	23	4811	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.4811A>G		.	.	.	.	.	.	.	.	.	.	A	15.26	2.780013	0.49891	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.56444	1.52;0.46;1.52;1.52;1.52	5.85	5.85	0.93711	.	0.159761	0.56097	D	0.000021	T	0.67988	0.2952	M	0.64404	1.975	0.46725	D	0.999174	D;D;D	0.71674	0.998;0.996;0.992	D;P;P	0.63703	0.917;0.827;0.634	T	0.66999	-0.5781	10	0.39692	T	0.17	.	16.2303	0.82332	1.0:0.0:0.0:0.0	.	1612;1613;1374	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	C	1613;1612;1492;1374;1437	ENSP00000429430:Y1613C;ENSP00000438635:Y1612C;ENSP00000428964:Y1492C;ENSP00000427874:Y1374C;ENSP00000384905:Y1437C	ENSP00000384905:Y1437C	Y	+	2	0	ODZ2	167578312	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	4.004000	0.57068	2.233000	0.73108	0.533000	0.62120	TAC		0.473	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1		NM_001122679		12	124	0	0	0	0.010729	0	12	124		
FOXQ1	94234	broad.mit.edu	37	6	1313431	1313431	+	Silent	SNP	C	C	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr6:1313431C>A	ENST00000296839.2	+	1	757	c.492C>A	c.(490-492)cgC>cgA	p.R164R		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	164					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		CGGGCTGGCGCAACTCCGTGC	0.647																																						uc003mtl.3		NaN																	0					0						c.(490-492)CGC>CGA		forkhead box Q1							39.0	41.0	40.0					6																	1313431		2198	4296	6494	SO:0001819	synonymous_variant	94234				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding	g.chr6:1313431C>A	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"""Forkhead boxes"""	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.492C>A	6.37:g.1313431C>A							p.R164R	NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)	1	757	+	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	164			Fork-head.		Q9NS06	Silent	SNP	ENST00000296839.2	37	c.492C>A	CCDS4471.1																																																																																				0.647	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1		NM_033260		9	92	1	0	0.000442599	0.006214	0.000456969	9	92		
CDYL	9425	broad.mit.edu	37	6	4892403	4892403	+	Missense_Mutation	SNP	G	G	A	rs573123342		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr6:4892403G>A	ENST00000328908.5	+	4	774	c.643G>A	c.(643-645)Gag>Aag	p.E215K	CDYL_ENST00000397588.3_Missense_Mutation_p.E161K|CDYL_ENST00000449732.2_Missense_Mutation_p.E29K|CDYL_ENST00000472453.1_Intron|CDYL_ENST00000343762.5_Missense_Mutation_p.E29K			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	215	Interaction with EZH2.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CTTTCAGAGCGAGAGCCCTGA	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18990	0.0		0.0	False		,,,				2504	0.0					uc003mwi.2		NaN																	0					0						c.(643-645)GAG>AAG		chromodomain protein, Y chromosome-like isoform							54.0	57.0	56.0					6																	4892403		2203	4300	6503	SO:0001583	missense	9425				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	g.chr6:4892403G>A	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.643G>A	6.37:g.4892403G>A	ENSP00000330512:p.Glu215Lys					CDYL_uc003mwj.2_Missense_Mutation_p.E161K|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_Missense_Mutation_p.E29K|CDYL_uc011dhy.1_Missense_Mutation_p.E29K	p.E215K	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.182)	4	774	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)	215					A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Missense_Mutation	SNP	ENST00000328908.5	37	c.643G>A		.	.	.	.	.	.	.	.	.	.	G	13.50	2.255061	0.39896	.	.	ENSG00000153046	ENST00000328908;ENST00000397588;ENST00000449732;ENST00000343762	T;T;T;T	0.56275	0.86;0.49;0.47;0.47	5.55	5.55	0.83447	.	0.054510	0.64402	D	0.000001	T	0.28466	0.0704	L	0.28740	0.885	0.80722	D	1	B;B	0.22909	0.077;0.046	B;B	0.21917	0.037;0.017	T	0.08680	-1.0710	9	.	.	.	.	18.5062	0.90898	0.0:0.0:1.0:0.0	.	161;215	Q9Y232-2;Q9Y232	.;CDYL1_HUMAN	K	215;161;29;29	ENSP00000330512:E215K;ENSP00000380718:E161K;ENSP00000394076:E29K;ENSP00000340908:E29K	.	E	+	1	0	CDYL	4837402	1.000000	0.71417	0.957000	0.39632	0.353000	0.29299	9.205000	0.95048	2.615000	0.88500	0.650000	0.86243	GAG		0.602	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1		NM_004824		5	70	0	0	0	0.000602	0	5	70		
BLOC1S5	63915	broad.mit.edu	37	6	8041460	8041460	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr6:8041460C>T	ENST00000397457.2	-	3	274	c.237G>A	c.(235-237)ttG>ttA	p.L79L	EEF1E1-BLOC1S5_ENST00000397456.2_3'UTR|BLOC1S5_ENST00000543936.1_Silent_p.L15L|BLOC1S5-TXNDC5_ENST00000439343.2_Silent_p.L75L	NM_001199323.1|NM_201280.2	NP_001186252.1|NP_958437.1	Q8TDH9	BL1S5_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 5, muted	79					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to melanosome transport (GO:0035646)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuron projection development (GO:0031175)|otolith morphogenesis (GO:0032474)|positive regulation of pigment cell differentiation (GO:0050942)	BLOC-1 complex (GO:0031083)|transport vesicle (GO:0030133)											TCATGTTCTTCAAATTTTCAA	0.363																																						uc003mxy.2		NaN																	0					0						c.(235-237)TTG>TTA		muted							125.0	120.0	122.0					6																	8041460		2203	4300	6503	SO:0001819	synonymous_variant	63915					BLOC-1 complex	protein binding	g.chr6:8041460C>T	AF426434	CCDS4506.1, CCDS75394.1	6p25.1-p24.3	2012-08-01	2012-08-01	2012-08-01		ENSG00000188428		"""Biogenesis of lysosomal organelles complex-1 subunits"""	18561	protein-coding gene	gene with protein product		607289	"""muted homolog (mouse)"""	MUTED		11912185	Standard	NM_001199322		Approved	MU, dJ303A1.3		Q8TDH9	OTTHUMG00000014220	ENST00000397457.2:c.237G>A	6.37:g.8041460C>T						TXNDC5_uc003mxw.2_5'UTR|MUTED_uc010joc.2_Silent_p.L15L|MUTED_uc010job.2_RNA	p.L79L	NM_201280	NP_958437	Q8TDH9	MUTED_HUMAN			3	275	-	Ovarian(93;0.0398)		79					B4DVM2|Q0VDJ6|Q0VDJ7|Q5THS1|Q68D56|Q8N5F9|Q9NU16	Silent	SNP	ENST00000397457.2	37	c.237G>A	CCDS4506.1																																																																																				0.363	BLOC1S5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039797.2		NM_201280		10	58	0	0	0	0.006214	0	10	58		
ZBED9	114821	broad.mit.edu	37	6	28547168	28547168	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr6:28547168A>T	ENST00000452236.2	-	2	1066	c.449T>A	c.(448-450)gTt>gAt	p.V150D	SCAND3_ENST00000530247.1_5'UTR	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTCCATAGAAACTTCCTGCCC	0.413																																						uc003nlo.2		NaN																	0				ovary(1)	1						c.(448-450)GTT>GAT		SCAN domain containing 3							131.0	124.0	126.0					6																	28547168		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28547168A>T																												ENST00000452236.2:c.449T>A	6.37:g.28547168A>T	ENSP00000395259:p.Val150Asp						p.V150D	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			2	1067	-			150						Missense_Mutation	SNP	ENST00000452236.2	37	c.449T>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	A	1.078	-0.667789	0.03428	.	.	ENSG00000232040	ENST00000452236	T	0.01767	4.65	3.3	0.738	0.18319	Transcription regulator SCAN (1);	.	.	.	.	T	0.00524	0.0017	N	0.24115	0.695	0.09310	N	1	B	0.28128	0.201	B	0.23852	0.049	T	0.45440	-0.9261	9	0.87932	D	0	.	7.3342	0.26601	0.7722:0.0:0.2278:0.0	.	150	Q6R2W3	SCND3_HUMAN	D	150	ENSP00000395259:V150D	ENSP00000395259:V150D	V	-	2	0	SCAND3	28655147	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.773000	0.26661	-0.441000	0.07201	-1.815000	0.00603	GTT		0.413	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3				12	93	0	0	0	0.001855	0	12	93		
C6orf15	29113	broad.mit.edu	37	6	31079947	31079947	+	Silent	SNP	G	G	A	rs375274768		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr6:31079947G>A	ENST00000259870.3	-	2	192	c.189C>T	c.(187-189)ccC>ccT	p.P63P	PSORS1C1_ENST00000259881.9_5'Flank	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	63					extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						GGTCCAGAGCGGGCTGCGGAT	0.562																																						uc003nsk.1		NaN																	0					0						c.(187-189)CCC>CCT		STG protein precursor		G		0,4386		0,0,2193	88.0	104.0	99.0		189	-0.2	0.0	6		99	1,8577		0,1,4288	no	coding-synonymous	C6orf15	NM_014070.2		0,1,6481	AA,AG,GG		0.0117,0.0,0.0077		63/326	31079947	1,12963	2193	4289	6482	SO:0001819	synonymous_variant	29113							g.chr6:31079947G>A	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.189C>T	6.37:g.31079947G>A						PSORS1C1_uc003nsl.1_5'Flank|PSORS1C1_uc010jsj.1_5'Flank	p.P63P	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN			2	189	-			63					B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Silent	SNP	ENST00000259870.3	37	c.189C>T	CCDS4693.1																																																																																				0.562	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2		NM_014070		18	141	0	0	0	0.00499	0	18	141		
LY6G5B	58496	broad.mit.edu	37	6	31639913	31639913	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr6:31639913G>C	ENST00000375864.4	+	3	1244	c.460G>C	c.(460-462)Gag>Cag	p.E154Q	LY6G5B_ENST00000409525.1_Missense_Mutation_p.E99Q|CSNK2B-LY6G5B-1181_ENST00000375880.2_3'UTR	NM_021221.2	NP_067044.2	Q8NDX9	LY65B_HUMAN	lymphocyte antigen 6 complex, locus G5B	154						extracellular region (GO:0005576)				lung(4)	4						TGCTGGGACGGAGCCTGATGG	0.587																																						uc003nvt.1		NaN																	0					0						c.(460-462)GAG>CAG		lymphocyte antigen 6 complex G5B precursor							81.0	70.0	74.0					6																	31639913		1511	2708	4219	SO:0001583	missense	58496					extracellular region		g.chr6:31639913G>C	AF129756	CCDS34400.1	6p21.3	2008-08-01	2002-07-29	2002-08-01	ENSG00000240053	ENSG00000240053			13931	protein-coding gene	gene with protein product		610433	"""chromosome 6 open reading frame 19"""	C6orf19		8812450, 12079290, 17008713	Standard	NM_021221		Approved	G5b		Q8NDX9	OTTHUMG00000031227	ENST00000375864.4:c.460G>C	6.37:g.31639913G>C	ENSP00000365024:p.Glu154Gln					CSNK2B_uc003nvs.1_3'UTR	p.E154Q	NM_021221	NP_067044	Q8NDX9	LY65B_HUMAN			3	460	+			154					B0UXB2|B0UZ65|B0UZP8|B7ZCA3|Q5SQ62|Q5SST3|Q9UKT0|Q9UMQ0	Missense_Mutation	SNP	ENST00000375864.4	37	c.460G>C	CCDS34400.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.358824	0.41801	.	.	ENSG00000240053	ENST00000409691;ENST00000375864;ENST00000409525	T;T	0.25250	1.81;1.82	4.3	3.42	0.39159	.	.	.	.	.	T	0.10035	0.0246	N	0.24115	0.695	.	.	.	P	0.51351	0.944	P	0.47470	0.548	T	0.07578	-1.0765	8	0.41790	T	0.15	-0.4574	8.0699	0.30682	0.1118:0.0:0.8882:0.0	.	154	Q8NDX9	LY65B_HUMAN	Q	151;154;99	ENSP00000365024:E154Q;ENSP00000386365:E99Q	ENSP00000365024:E154Q	E	+	1	0	LY6G5B	31747892	0.006000	0.16342	0.284000	0.24805	0.612000	0.37316	0.760000	0.26475	1.160000	0.42584	0.462000	0.41574	GAG		0.587	LY6G5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000124389.4				10	74	0	0	0	0.008291	0	10	74		
RPS18	6222	broad.mit.edu	37	6	33243657	33243657	+	Silent	SNP	T	T	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr6:33243657T>C	ENST00000439602.2	+	3	296	c.186T>C	c.(184-186)gaT>gaC	p.D62D	RPS18_ENST00000474973.1_5'UTR|B3GALT4_ENST00000451237.1_5'Flank|RPS18_ENST00000476222.1_3'UTR			P62269	RS18_HUMAN	ribosomal protein S18	62					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						TCACTGAGGATGAGGTGAGGA	0.567																																						uc003odp.1		NaN																	0					0						c.(184-186)GAT>GAC		ribosomal protein S18							89.0	93.0	91.0					6																	33243657		2203	4300	6503	SO:0001819	synonymous_variant	6222				endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr6:33243657T>C	X69150	CCDS4771.1	6p21.3	2011-04-05			ENSG00000231500	ENSG00000231500		"""S ribosomal proteins"""	10401	protein-coding gene	gene with protein product		180473		D6S218E		8441687, 9582194	Standard	NM_022551		Approved	KE3, KE-3, HKE3, S18	uc003odp.1	P62269	OTTHUMG00000031053	ENST00000439602.2:c.186T>C	6.37:g.33243657T>C						RPS18_uc010jum.1_RNA|RPS18_uc003odq.1_RNA|B3GALT4_uc003odr.2_5'Flank	p.D62D	NM_022551	NP_072045	P62269	RS18_HUMAN			3	231	+			62					P25232|Q5SUJ3|Q6IPF8	Silent	SNP	ENST00000439602.2	37	c.186T>C	CCDS4771.1																																																																																				0.567	RPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076059.2				6	136	0	0	0	0.001168	0	6	136		
TCP11	6954	broad.mit.edu	37	6	35088699	35088699	+	Silent	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr6:35088699G>C	ENST00000512012.1	-	5	858	c.702C>G	c.(700-702)ctC>ctG	p.L234L	TCP11_ENST00000311875.5_Silent_p.L247L|TCP11_ENST00000418521.2_Silent_p.L171L|TCP11_ENST00000373974.4_Silent_p.L201L|TCP11_ENST00000444780.2_Silent_p.L242L|TCP11_ENST00000412155.2_Silent_p.L196L|TCP11_ENST00000373979.2_Silent_p.L172L|TCP11_ENST00000244645.3_Silent_p.L172L			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	234					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						GCTGCTTATTGAGGAGTTCCT	0.423																																						uc003okd.2		NaN																	0				ovary(3)|skin(2)	5						c.(739-741)CTC>CTG		t-complex 11 isoform 1							313.0	327.0	322.0					6																	35088699		2203	4300	6503	SO:0001819	synonymous_variant	6954				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr6:35088699G>C		CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"""fertilization-promoting peptide receptor"""	186982	"""t-complex 11 (a murine tcp homolog)"", ""t-complex 11 homolog (mouse)"""	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.702C>G	6.37:g.35088699G>C						TCP11_uc003ojz.1_Silent_p.L172L|TCP11_uc003oka.2_Silent_p.L172L|TCP11_uc003okb.2_Silent_p.L171L|TCP11_uc003okc.2_Silent_p.L171L|TCP11_uc011dsu.1_Silent_p.L229L|TCP11_uc011dsv.1_Silent_p.L196L|TCP11_uc011dsw.1_Silent_p.L201L	p.L247L	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN			6	922	-			234					B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Silent	SNP	ENST00000512012.1	37	c.741C>G		.	.	.	.	.	.	.	.	.	.	G	3.974	-0.007826	0.07773	.	.	ENSG00000124678	ENST00000502480	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	T	0.33235	0.0856	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38373	-0.9664	4	.	.	.	-20.1657	3.4751	0.07582	0.0934:0.1678:0.5653:0.1736	.	.	.	.	E	42	.	.	Q	-	1	0	TCP11	35196677	1.000000	0.71417	0.421000	0.26609	0.060000	0.15804	1.035000	0.30216	2.401000	0.81631	0.563000	0.77884	CAA		0.423	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1		NM_001093728		69	392	0	0	0	0.01441	0	69	392		
PPARD	5467	broad.mit.edu	37	6	35387983	35387983	+	Silent	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr6:35387983C>G	ENST00000311565.4	+	5	559	c.210C>G	c.(208-210)ctC>ctG	p.L70L	PPARD_ENST00000540939.1_Intron|PPARD_ENST00000360694.3_Silent_p.L70L|PPARD_ENST00000418635.2_Intron|PPARD_ENST00000444397.1_Silent_p.L70L|PPARD_ENST00000448077.2_Silent_p.L31L|PPARD_ENST00000337400.2_Silent_p.L70L	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	70					adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GCGGCAGCCTCAACATGGAGT	0.652																																						uc003okm.2		NaN																	0				ovary(1)	1						c.(208-210)CTC>CTG		peroxisome proliferative activated receptor,	Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)						73.0	64.0	67.0					6																	35387983		2203	4300	6503	SO:0001819	synonymous_variant	5467				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr6:35387983C>G	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.210C>G	6.37:g.35387983C>G						PPARD_uc003okl.2_Silent_p.L70L|PPARD_uc003okn.2_Silent_p.L70L|PPARD_uc011dtb.1_Silent_p.L31L|PPARD_uc011dtc.1_Intron|PPARD_uc010jvv.1_Intron	p.L70L	NM_006238	NP_006229	Q03181	PPARD_HUMAN			4	519	+			70					A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Silent	SNP	ENST00000311565.4	37	c.210C>G	CCDS4803.1																																																																																				0.652	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1		NM_006238		12	71	0	0	0	0.013537	0	12	71		
TFAP2D	83741	broad.mit.edu	37	6	50696937	50696937	+	Silent	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr6:50696937G>C	ENST00000008391.3	+	5	1023	c.795G>C	c.(793-795)ctG>ctC	p.L265L	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GCCGCTGCCTGAGAGAGAAAT	0.408																																						uc003paf.2		NaN																	0				ovary(6)|breast(1)	7						c.(793-795)CTG>CTC		transcription factor AP-2 beta-like 1							124.0	116.0	119.0					6																	50696937		2203	4300	6503	SO:0001819	synonymous_variant	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50696937G>C	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.795G>C	6.37:g.50696937G>C						TFAP2D_uc011dwt.1_RNA	p.L265L	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN			5	1307	+	Lung NSC(77;0.0334)		265						Silent	SNP	ENST00000008391.3	37	c.795G>C	CCDS4933.1																																																																																				0.408	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1		NM_172238		13	124	0	0	0	0.013537	0	13	124		
GRIK2	2898	broad.mit.edu	37	6	102337572	102337572	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr6:102337572G>A	ENST00000421544.1	+	11	2072	c.1582G>A	c.(1582-1584)Gac>Aac	p.D528N	GRIK2_ENST00000369134.4_Missense_Mutation_p.D479N|GRIK2_ENST00000369137.3_Missense_Mutation_p.D528N|GRIK2_ENST00000318991.6_Missense_Mutation_p.D528N|GRIK2_ENST00000413795.1_Missense_Mutation_p.D528N|GRIK2_ENST00000369138.1_Missense_Mutation_p.D528N	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	528					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.D528N(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GAAGGTCATCGACTTTTCCAA	0.423																																						uc003pqp.3		NaN																	2	Substitution - Missense(2)		breast(2)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(1582-1584)GAC>AAC		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						131.0	128.0	129.0					6																	102337572		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102337572G>A		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1582G>A	6.37:g.102337572G>A	ENSP00000397026:p.Asp528Asn					GRIK2_uc003pqn.2_Missense_Mutation_p.D528N|GRIK2_uc003pqo.3_Missense_Mutation_p.D528N|GRIK2_uc010kcw.2_Missense_Mutation_p.D528N	p.D528N	NM_021956	NP_068775	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	11	1831	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	528			Extracellular (Potential).		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.1582G>A	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	35	5.450445	0.96205	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000436862	D;D;D;T;D;D;T	0.99376	-5.79;-5.79;-5.79;2.26;-5.79;-5.79;2.26	5.6	5.6	0.85130	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.99450	0.9805	M	0.81802	2.56	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.99274	1.0894	10	0.87932	D	0	.	19.6182	0.95643	0.0:0.0:1.0:0.0	.	528;528;528	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	N	528;528;528;528;528;528;479;127	ENSP00000397026:D528N;ENSP00000405596:D528N;ENSP00000358134:D528N;ENSP00000358133:D528N;ENSP00000313276:D528N;ENSP00000358130:D479N;ENSP00000407140:D127N	ENSP00000313276:D528N	D	+	1	0	GRIK2	102444265	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.626000	0.88956	0.650000	0.86243	GAC		0.423	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1				14	124	0	0	0	0.00245	0	14	124		
FAM184A	79632	broad.mit.edu	37	6	119300685	119300685	+	Splice_Site	SNP	T	T	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr6:119300685T>C	ENST00000338891.7	-	11	2745		c.e11-2		FAM184A_ENST00000368475.4_Splice_Site|FAM184A_ENST00000521531.1_Splice_Site|FAM184A_ENST00000352896.5_Splice_Site|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A							extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTCAAGAGCCTAGAACAAGAC	0.328																																						uc003pyj.2		NaN																	0				ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						c.e11-1		hypothetical protein LOC79632 isoform 1							75.0	69.0	71.0					6																	119300685		1816	4075	5891	SO:0001630	splice_region_variant	79632							g.chr6:119300685T>C	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2302-2A>G	6.37:g.119300685T>C						FAM184A_uc003pyk.3_Splice_Site_p.A648_splice|FAM184A_uc003pyl.3_Splice_Site_p.A648_splice	p.A768_splice	NM_024581	NP_078857	Q8NB25	F184A_HUMAN			11	2650	-								B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Splice_Site	SNP	ENST00000338891.7	37	c.2302_splice	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.805344	0.70682	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9926	0.80217	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM184A	119342384	1.000000	0.71417	0.937000	0.37676	0.874000	0.50279	7.665000	0.83852	2.179000	0.69175	0.482000	0.46254	.		0.328	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3		NM_024581	Intron	4	31	0	0	0	0.009096	0	4	31		
TAAR8	83551	broad.mit.edu	37	6	132874511	132874511	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr6:132874511C>A	ENST00000275200.1	+	1	680	c.680C>A	c.(679-681)gCt>gAt	p.A227D		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	227					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		AAACAACAAGCTATAAAAATT	0.358																																						uc011ecj.1		NaN																	0				ovary(1)	1						c.(679-681)GCT>GAT		trace amine associated receptor 8							95.0	98.0	97.0					6																	132874511		2203	4299	6502	SO:0001583	missense	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874511C>A	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.680C>A	6.37:g.132874511C>A	ENSP00000275200:p.Ala227Asp						p.A227D	NM_053278	NP_444508	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	680	+	Breast(56;0.112)		227			Cytoplasmic (Potential).		Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	37	c.680C>A	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911213	0.33721	.	.	ENSG00000146385	ENST00000275200	T	0.39406	1.08	4.72	4.72	0.59763	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000033	T	0.66137	0.2759	H	0.94385	3.53	0.29788	N	0.833407	D	0.71674	0.998	D	0.81914	0.995	T	0.68281	-0.5450	10	0.87932	D	0	-13.4635	13.6528	0.62320	0.0:0.9225:0.0:0.0775	.	227	Q969N4	TAAR8_HUMAN	D	227	ENSP00000275200:A227D	ENSP00000275200:A227D	A	+	2	0	TAAR8	132916204	0.118000	0.22208	0.863000	0.33907	0.070000	0.16714	3.792000	0.55476	2.593000	0.87608	0.655000	0.94253	GCT		0.358	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1		NM_053278		11	77	1	0	3.86212e-05	0.008291	4.01358e-05	11	77		
TMEM181	57583	broad.mit.edu	37	6	159046150	159046150	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr6:159046150C>T	ENST00000367090.3	+	12	1391	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F	AL591025.1_ENST00000397897.1_5'Flank	NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	460					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		TGAAGGTCTTCTTCATGGTGG	0.547																																						uc003qrm.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1378-1380)TTC>TTT		G protein-coupled receptor 178							218.0	225.0	223.0					6																	159046150		2114	4225	6339	SO:0001819	synonymous_variant	57583				pathogenesis	integral to membrane	toxin binding	g.chr6:159046150C>T	AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"""G protein-coupled receptor 178"", ""KIAA1423"""	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.1380C>T	6.37:g.159046150C>T						TMEM181_uc010kjr.1_Silent_p.F291F	p.F460F	NM_020823	NP_065874	Q9P2C4	TM181_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)	12	1391	+		Breast(66;0.000776)|Ovarian(120;0.0303)	460			Helical; (Potential).		Q5VTU1	Silent	SNP	ENST00000367090.3	37	c.1380C>T	CCDS43520.1																																																																																				0.547	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1		NM_020823		8	153	0	0	0	0.00308	0	8	153		
C7orf50	84310	broad.mit.edu	37	7	1037332	1037332	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr7:1037332C>T	ENST00000397098.3	-	5	1440	c.514G>A	c.(514-516)Gag>Aag	p.E172K	C7orf50_ENST00000357429.6_Missense_Mutation_p.E172K|C7orf50_ENST00000397100.2_Missense_Mutation_p.E172K|C7orf50_ENST00000488073.1_5'UTR			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	172							poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		GAGCCCTCCTCATCCAGCTCC	0.711																																						uc003sju.2		NaN																	0					0						c.(514-516)GAG>AAG		hypothetical protein LOC84310							27.0	31.0	30.0					7																	1037332		2203	4296	6499	SO:0001583	missense	84310						protein binding	g.chr7:1037332C>T	BC006224	CCDS5320.1	7p22.3	2011-11-25			ENSG00000146540	ENSG00000146540			22421	protein-coding gene	gene with protein product							Standard	NM_032350		Approved	MGC11257, YCR016W	uc011jvu.1	Q9BRJ6	OTTHUMG00000151477	ENST00000397098.3:c.514G>A	7.37:g.1037332C>T	ENSP00000380286:p.Glu172Lys					C7orf50_uc003sjs.2_RNA|C7orf50_uc011jvt.1_Missense_Mutation_p.E172K|C7orf50_uc011jvu.1_Missense_Mutation_p.E172K	p.E172K	NM_032350	NP_115726	Q9BRJ6	CG050_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)	5	584	-		Ovarian(82;0.0779)	172						Missense_Mutation	SNP	ENST00000397098.3	37	c.514G>A	CCDS5320.1	.	.	.	.	.	.	.	.	.	.	C	4.967	0.179563	0.09443	.	.	ENSG00000146540	ENST00000397100;ENST00000397098;ENST00000357429;ENST00000444428;ENST00000491163	.	.	.	5.61	1.5	0.22942	.	0.503993	0.16749	N	0.201104	T	0.28665	0.0710	L	0.54323	1.7	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34004	-0.9846	9	0.05959	T	0.93	-18.9745	5.6826	0.17784	0.1589:0.6137:0.0:0.2274	.	172	Q9BRJ6	CG050_HUMAN	K	172;172;172;140;172	.	ENSP00000350011:E172K	E	-	1	0	C7orf50	1003858	0.000000	0.05858	0.005000	0.12908	0.008000	0.06430	-0.970000	0.03810	0.230000	0.21059	-0.751000	0.03497	GAG		0.711	C7orf50-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322817.3		NM_032350		8	80	0	0	0	0.004482	0	8	80		
MAD1L1	8379	broad.mit.edu	37	7	2274900	2274900	+	5'Flank	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr7:2274900G>C	ENST00000406869.1	-	0	0				FTSJ2_ENST00000242257.8_Missense_Mutation_p.Q200E|MAD1L1_ENST00000399654.2_5'Flank|MAD1L1_ENST00000265854.7_5'Flank|FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000407040.1_Missense_Mutation_p.Q106E|MAD1L1_ENST00000402746.1_5'Flank|FTSJ2_ENST00000486040.1_5'UTR			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)						mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CGACGGCTTTGACTTCCAGCC	0.507																																						uc003slm.2		NaN																	0				ovary(1)	1						c.(598-600)CAA>GAA		FtsJ homolog 2							94.0	87.0	89.0					7																	2274900		2203	4300	6503	SO:0001631	upstream_gene_variant	29960				cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity	g.chr7:2274900G>C	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493		7.37:g.2274900G>C	Exception_encountered					MAD1L1_uc003slh.1_5'Flank|MAD1L1_uc003slf.1_5'Flank|MAD1L1_uc003slg.1_5'Flank|MAD1L1_uc010ksh.1_5'Flank|MAD1L1_uc003sli.1_5'Flank|MAD1L1_uc010ksi.1_5'Flank|MAD1L1_uc010ksj.2_5'Flank|FTSJ2_uc003slk.2_Missense_Mutation_p.Q46E|FTSJ2_uc003sll.2_Missense_Mutation_p.Q46E|FTSJ2_uc003sln.2_RNA|FTSJ2_uc003slo.2_Missense_Mutation_p.Q46E	p.Q200E	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)	3	627	-		Ovarian(82;0.0253)	200					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.598C>G	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	G	1.700	-0.501740	0.04261	.	.	ENSG00000122687	ENST00000242257;ENST00000407040	T;T	0.26067	1.76;1.76	5.37	4.46	0.54185	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.407546	0.25397	N	0.030977	T	0.09202	0.0227	N	0.01529	-0.815	0.46849	D	0.999223	B	0.06786	0.001	B	0.06405	0.002	T	0.14364	-1.0475	10	0.24483	T	0.36	-8.0024	9.3869	0.38349	0.0:0.2817:0.5877:0.1306	.	200	Q9UI43	RRMJ2_HUMAN	E	200;106	ENSP00000242257:Q200E;ENSP00000384423:Q106E	ENSP00000242257:Q200E	Q	-	1	0	FTSJ2	2241426	0.993000	0.37304	0.899000	0.35326	0.893000	0.52053	3.162000	0.50755	1.202000	0.43218	0.655000	0.94253	CAA		0.507	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1		NM_003550		15	105	0	0	0	0.00245	0	15	105		
DNAH11	8701	broad.mit.edu	37	7	21920404	21920404	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr7:21920404A>G	ENST00000409508.3	+	75	12311	c.12280A>G	c.(12280-12282)Aga>Gga	p.R4094G	DNAH11_ENST00000328843.6_Missense_Mutation_p.R4101G	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4101	AAA 6. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGTTGCTGGGAGACTGAGGTT	0.478									Kartagener syndrome																													uc003svc.2		NaN																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(12301-12303)AGA>GGA		dynein, axonemal, heavy chain 11							118.0	117.0	118.0					7																	21920404		1864	4090	5954	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.chr7:21920404A>G	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.12280A>G	7.37:g.21920404A>G	ENSP00000475939:p.Arg4094Gly						p.R4101G	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			76	12332	+			4101			AAA 6 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.12301A>G		.	.	.	.	.	.	.	.	.	.	A	16.80	3.224196	0.58668	.	.	ENSG00000105877	ENST00000328843	T	0.30714	1.52	5.66	4.48	0.54585	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	.	.	.	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.54906	-0.8223	9	0.87932	D	0	.	8.5876	0.33668	0.8007:0.1305:0.0688:0.0	.	4101	Q96DT5	DYH11_HUMAN	G	4101	ENSP00000330671:R4101G	ENSP00000330671:R4101G	R	+	1	2	DNAH11	21886929	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.044000	0.41241	0.941000	0.37499	0.533000	0.62120	AGA		0.478	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		NM_003777		11	120	0	0	0	0.008291	0	11	120		
EGFR	1956	broad.mit.edu	37	7	55259449	55259449	+	Missense_Mutation	SNP	G	G	A	rs146121458		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr7:55259449G>A	ENST00000275493.2	+	21	2684	c.2507G>A	c.(2506-2508)cGc>cAc	p.R836H	EGFR_ENST00000454757.2_Missense_Mutation_p.R783H|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000455089.1_Missense_Mutation_p.R791H|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	836	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R836H(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TTGGTGCACCGCGACCTGGCA	0.537		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		1	Substitution - Missense(1)	p.R836C(2)|p.R836R(1)|p.R836S(1)	lung(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2506-2508)CGC>CAC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	112.0	97.0	102.0		2507	5.8	1.0	7	dbSNP_134	102	0,8600		0,0,4300	no	missense	EGFR	NM_005228.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	836/1211	55259449	1,13005	2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55259449G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2507G>A	7.37:g.55259449G>A	ENSP00000275493:p.Arg836His	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_Missense_Mutation_p.R791H|EGFR_uc011kco.1_Missense_Mutation_p.R783H|uc003tqo.2_5'Flank	p.R836H	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		21	2753	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		836			Cytoplasmic (Potential).|Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2507G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	35	5.593954	0.96602	2.27E-4	0.0	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.75050	-0.9;-0.9;-0.9	5.82	5.82	0.92795	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92708	0.7682	H	0.99090	4.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.95349	0.8445	10	0.87932	D	0	.	18.6604	0.91470	0.0:0.0:1.0:0.0	.	791;836	Q504U8;P00533	.;EGFR_HUMAN	H	791;706;836;783	ENSP00000415559:R791H;ENSP00000275493:R836H;ENSP00000395243:R783H	ENSP00000275493:R836H	R	+	2	0	EGFR	55226943	1.000000	0.71417	0.958000	0.39756	0.992000	0.81027	9.704000	0.98716	2.751000	0.94390	0.650000	0.86243	CGC		0.537	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2		NM_005228		10	117	0	0	0	0.008291	0	10	117		
TPST1	8460	broad.mit.edu	37	7	65705842	65705842	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr7:65705842G>A	ENST00000304842.5	+	2	855	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	144					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTTCTTACTAGAAATTATCGT	0.438																																						uc003tuw.2		NaN																	0					0						c.(430-432)GAA>AAA		tyrosylprotein sulfotransferase 1							79.0	78.0	78.0					7																	65705842		2203	4300	6503	SO:0001583	missense	8460				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr7:65705842G>A	AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12020	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog A (Drosophila)"""	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.430G>A	7.37:g.65705842G>A	ENSP00000302413:p.Glu144Lys					TPST1_uc010kzy.2_Intron|TPST1_uc010kzz.2_Missense_Mutation_p.E144K|TPST1_uc010laa.2_Missense_Mutation_p.E144K	p.E144K	NM_003596	NP_003587	O60507	TPST1_HUMAN			2	782	+			144			Lumenal (Potential).		A4D2M0|Q6FGM7	Missense_Mutation	SNP	ENST00000304842.5	37	c.430G>A	CCDS5533.1	.	.	.	.	.	.	.	.	.	.	G	31	5.104785	0.94245	.	.	ENSG00000169902	ENST00000304842;ENST00000544114	.	.	.	5.6	5.6	0.85130	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.84678	0.5525	M	0.88310	2.945	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.73708	0.981;0.978	D	0.85529	0.1208	9	0.45353	T	0.12	-26.0923	18.6016	0.91249	0.0:0.0:1.0:0.0	.	144;144	F5H7U7;O60507	.;TPST1_HUMAN	K	144	.	ENSP00000302413:E144K	E	+	1	0	TPST1	65343277	1.000000	0.71417	0.772000	0.31596	0.963000	0.63663	8.786000	0.91826	2.628000	0.89032	0.585000	0.79938	GAA		0.438	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2		NM_003596		4	86	0	0	0	0.009096	0	4	86		
PCLO	27445	broad.mit.edu	37	7	82784366	82784366	+	Missense_Mutation	SNP	A	A	G	rs112239934		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr7:82784366A>G	ENST00000333891.9	-	2	1928	c.1591T>C	c.(1591-1593)Tct>Cct	p.S531P	PCLO_ENST00000423517.2_Missense_Mutation_p.S531P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTGTTGAGATGGGGGTTTT	0.557																																						uc003uhx.2		NaN																	0				ovary(7)	7						c.(1591-1593)TCT>CCT		piccolo isoform 1							197.0	202.0	200.0					7																	82784366		1981	4169	6150	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784366A>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1591T>C	7.37:g.82784366A>G	ENSP00000334319:p.Ser531Pro					PCLO_uc003uhv.2_Missense_Mutation_p.S531P	p.S531P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	1880	-			477			Gln-rich.|Pro-rich.|10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.			Missense_Mutation	SNP	ENST00000333891.9	37	c.1591T>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	a	0.007	-1.978780	0.00448	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16457	2.34;2.35	4.7	-9.4	0.00616	.	.	.	.	.	T	0.07007	0.0178	N	0.08118	0	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46005	-0.9222	9	0.87932	D	0	.	8.4539	0.32888	0.2726:0.5283:0.0745:0.1246	.	531;531	Q9Y6V0-5;Q9Y6V0-6	.;.	P	477;531;531	ENSP00000334319:S531P;ENSP00000388393:S531P	ENSP00000334319:S531P	S	-	1	0	PCLO	82622302	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.224000	0.00551	-2.884000	0.00318	-1.508000	0.00951	TCT		0.557	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5		NM_014510		8	357	0	0	0	0.008291	0	8	357		
PCLO	27445	broad.mit.edu	37	7	82784471	82784471	+	Missense_Mutation	SNP	A	A	G	rs199515717		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr7:82784471A>G	ENST00000333891.9	-	2	1823	c.1486T>C	c.(1486-1488)Tca>Cca	p.S496P	PCLO_ENST00000423517.2_Missense_Mutation_p.S496P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S496P(6)|p.?(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTTTGCTGAGCCAGGCTGT	0.607																																						uc003uhx.2		NaN																	9	Substitution - Missense(6)|Unknown(3)		kidney(6)|prostate(3)	ovary(7)	7						c.(1486-1488)TCA>CCA		piccolo isoform 1		A	PRO/SER,PRO/SER	0,3888		0,0,1944	89.0	98.0	95.0		1486,1486	-0.1	0.0	7		95	1,8267		0,1,4133	no	missense,missense	PCLO	NM_014510.2,NM_033026.5	74,74	0,1,6077	GG,GA,AA		0.0121,0.0,0.0082	benign,benign	496/4936,496/5143	82784471	1,12155	1944	4134	6078	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784471A>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1486T>C	7.37:g.82784471A>G	ENSP00000334319:p.Ser496Pro					PCLO_uc003uhv.2_Missense_Mutation_p.S496P	p.S496P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	1775	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						Missense_Mutation	SNP	ENST00000333891.9	37	c.1486T>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	0.210	-1.037056	0.02013	0.0	1.21E-4	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.15372	2.43;2.44	4.64	-0.0778	0.13717	.	.	.	.	.	T	0.04679	0.0127	N	0.00538	-1.39	0.22066	N	0.999381	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37009	-0.9724	9	0.87932	D	0	.	7.1447	0.25577	0.2775:0.116:0.6065:0.0	.	496;496	Q9Y6V0-5;Q9Y6V0-6	.;.	P	496	ENSP00000334319:S496P;ENSP00000388393:S496P	ENSP00000334319:S496P	S	-	1	0	PCLO	82622407	0.659000	0.27411	0.005000	0.12908	0.207000	0.24258	2.928000	0.48908	0.094000	0.17404	-0.379000	0.06801	TCA		0.607	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5		NM_014510		11	238	0	0	0	0.001855	0	11	238		
AKAP9	10142	broad.mit.edu	37	7	91691704	91691704	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr7:91691704G>C	ENST00000359028.2	+	25	6142	c.5917G>C	c.(5917-5919)Gaa>Caa	p.E1973Q	AKAP9_ENST00000356239.3_Missense_Mutation_p.E1961Q|AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000358100.2_Missense_Mutation_p.E1973Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1973	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAGGTTGCAAGAATTGGAGGC	0.403			T	BRAF	papillary thyroid																																	uc003ulg.2		NaN		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(5881-5883)GAA>CAA		A-kinase anchor protein 9 isoform 2							147.0	147.0	147.0					7																	91691704		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91691704G>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.5917G>C	7.37:g.91691704G>C	ENSP00000351922:p.Glu1973Gln					AKAP9_uc003ulf.2_Missense_Mutation_p.E1961Q|AKAP9_uc003uli.2_Missense_Mutation_p.E1584Q	p.E1961Q	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		24	6106	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1973			Potential.|Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.5881G>C		.	.	.	.	.	.	.	.	.	.	G	16.62	3.175326	0.57692	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000265737	T;T;T	0.03831	3.79;3.79;3.79	5.25	5.25	0.73442	.	0.000000	0.42682	D	0.000667	T	0.17280	0.0415	L	0.49513	1.565	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.995;1.0	D;D;D	0.87578	0.996;0.954;0.998	T	0.02179	-1.1200	10	0.26408	T	0.33	.	19.2152	0.93774	0.0:0.0:1.0:0.0	.	1973;1961;1961	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	Q	1961;1973;1973;1973;176	ENSP00000348573:E1961Q;ENSP00000351922:E1973Q;ENSP00000350813:E1973Q	ENSP00000265737:E176Q	E	+	1	0	AKAP9	91529640	1.000000	0.71417	0.924000	0.36721	0.657000	0.38888	8.312000	0.89976	2.612000	0.88384	0.655000	0.94253	GAA		0.403	AKAP9-202	KNOWN	basic	protein_coding	protein_coding			NM_005751		9	120	0	0	0	0.004482	0	9	120		
GIGYF1	64599	broad.mit.edu	37	7	100281007	100281007	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr7:100281007G>C	ENST00000275732.5	-	18	3322	c.2113C>G	c.(2113-2115)Cga>Gga	p.R705G	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	705					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTCTCCTCTCGACGCTTGCGT	0.647																																						uc003uwg.1		NaN																	0				large_intestine(1)|central_nervous_system(1)	2						c.(2113-2115)CGA>GGA		PERQ amino acid rich, with GYF domain 1							101.0	116.0	111.0					7																	100281007		2203	4300	6503	SO:0001583	missense	64599							g.chr7:100281007G>C	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2113C>G	7.37:g.100281007G>C	ENSP00000275732:p.Arg705Gly						p.R705G	NM_022574	NP_072096	O75420	PERQ1_HUMAN			18	3122	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		705					Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.2113C>G	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	11.44	1.639306	0.29157	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	T	0.56611	0.45	4.05	3.14	0.36123	.	0.000000	0.52532	D	0.000077	T	0.35711	0.0941	L	0.41824	1.3	0.45342	D	0.998337	P	0.43024	0.798	B	0.34779	0.189	T	0.08391	-1.0724	10	0.25751	T	0.34	-24.4053	8.7922	0.34857	0.0:0.0:0.5896:0.4104	.	705	O75420	PERQ1_HUMAN	G	424;705	ENSP00000275732:R705G	ENSP00000275732:R705G	R	-	1	2	GIGYF1	100118943	0.985000	0.35326	0.202000	0.23494	0.662000	0.39071	3.224000	0.51238	0.870000	0.35726	0.313000	0.20887	CGA		0.647	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2		NM_022574		27	245	0	0	0	0.004656	0	27	245		
STMN4	81551	broad.mit.edu	37	8	27099982	27099982	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr8:27099982G>A	ENST00000265770.7	-	3	177	c.41C>T	c.(40-42)cCg>cTg	p.P14L	STMN4_ENST00000522908.1_Missense_Mutation_p.P14L|STMN4_ENST00000350889.4_Missense_Mutation_p.P14L|STMN4_ENST00000523048.1_Missense_Mutation_p.P14L|STMN4_ENST00000519997.1_Missense_Mutation_p.P5L|STMN4_ENST00000519614.1_Missense_Mutation_p.P14L			Q9H169	STMN4_HUMAN	stathmin-like 4	14					regulation of microtubule polymerization or depolymerization (GO:0031110)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)	Lomustine(DB01206)	GGACACCAGCGGGAGCTCCTT	0.567																																						uc003xfk.2		NaN																	0				large_intestine(1)|pancreas(1)	2						c.(40-42)CCG>CTG		RecName: Full=Stathmin-4; AltName: Full=Stathmin-like protein B3;          Short=RB3;							96.0	91.0	93.0					8																	27099982		2203	4300	6503	SO:0001583	missense	81551				intracellular signal transduction			g.chr8:27099982G>A		CCDS6055.1, CCDS64851.1, CCDS64852.1, CCDS64854.1	8p21.2	2006-12-09			ENSG00000015592	ENSG00000015592			16078	protein-coding gene	gene with protein product						11230166	Standard	NM_001283054		Approved	RB3	uc003xfj.3	Q9H169	OTTHUMG00000099461	ENST00000265770.7:c.41C>T	8.37:g.27099982G>A	ENSP00000265770:p.Pro14Leu					STMN4_uc003xfj.2_Missense_Mutation_p.P14L|STMN4_uc011lai.1_Missense_Mutation_p.P14L|STMN4_uc011laj.1_Missense_Mutation_p.P5L|STMN4_uc011lak.1_Missense_Mutation_p.P14L|STMN4_uc010luo.2_Missense_Mutation_p.P14L	p.P14L			Q9H169	STMN4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)	3	155	-		Ovarian(32;0.00167)	14					B7Z2Z7|B7Z4I9|D3DSS8|D3DSS9|G5EA16|Q2TAB9	Missense_Mutation	SNP	ENST00000265770.7	37	c.41C>T		.	.	.	.	.	.	.	.	.	.	G	31	5.060790	0.93846	.	.	ENSG00000015592	ENST00000350889;ENST00000519997;ENST00000265770;ENST00000523048;ENST00000519614;ENST00000522908	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.77471	0.4135	M	0.68317	2.08	0.80722	D	1	D;P;D;D;D;D	0.89917	1.0;0.643;1.0;1.0;1.0;1.0	D;B;D;D;D;D	0.91635	0.998;0.073;0.999;0.926;0.995;0.999	T	0.78550	-0.2161	9	0.62326	D	0.03	-5.5899	16.242	0.82418	0.0:0.0:1.0:0.0	.	14;5;14;14;14;14	E7EVN3;B7Z2Z7;G5EA16;E5RIR6;Q9H169;Q9H169-2	.;.;.;.;STMN4_HUMAN;.	L	14;5;14;14;14;14	.	ENSP00000265770:P14L	P	-	2	0	STMN4	27155899	1.000000	0.71417	0.988000	0.46212	0.976000	0.68499	9.573000	0.98181	2.777000	0.95525	0.655000	0.94253	CCG		0.567	STMN4-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000375941.1		NM_030795		9	47	0	0	0	0.004482	0	9	47		
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						uc010lxb.2		NaN																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(5077-5079)CCA>CCC		MYST histone acetyltransferase (monocytic							16.0	18.0	18.0					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						MYST3_uc010lxc.2_Silent_p.P1693P|MYST3_uc003xon.3_Silent_p.P1693P	p.P1693P	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		18	5623	-	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1		NM_006766		5	17	0	0	0	0.001855	0	5	17		
AP3M2	10947	broad.mit.edu	37	8	42023048	42023048	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr8:42023048G>T	ENST00000518421.1	+	7	1064	c.773G>T	c.(772-774)cGc>cTc	p.R258L	AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000396926.3_Missense_Mutation_p.R258L|AP3M2_ENST00000174653.3_Missense_Mutation_p.R258L|AP3M2_ENST00000517922.1_Missense_Mutation_p.R258L	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	258	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			GGAAACTTCCGCCTGCTGTCT	0.463																																						uc003xop.2		NaN																	0					0						c.(772-774)CGC>CTC		adaptor-related protein complex 3, mu 2 subunit							197.0	171.0	180.0					8																	42023048		2203	4300	6503	SO:0001583	missense	10947				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus		g.chr8:42023048G>T	D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.773G>T	8.37:g.42023048G>T	ENSP00000428787:p.Arg258Leu					AP3M2_uc003xoo.2_Missense_Mutation_p.R258L|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_Missense_Mutation_p.R143L|AP3M2_uc003xor.1_Missense_Mutation_p.R258L	p.R258L	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		7	1064	+	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	258			MHD.		B2RCR0|D3DSY2|Q7Z472	Missense_Mutation	SNP	ENST00000518421.1	37	c.773G>T	CCDS6125.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878508	0.91740	.	.	ENSG00000070718	ENST00000518421;ENST00000174653;ENST00000396926;ENST00000521280;ENST00000517922;ENST00000517499	T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08	5.83	5.83	0.93111	Clathrin adaptor, mu subunit, conserved site (1);Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.43919	0.1269	M	0.91717	3.235	0.80722	D	1	B;P	0.42993	0.118;0.797	B;B	0.43838	0.249;0.433	T	0.56360	-0.7992	10	0.87932	D	0	-12.7003	20.126	0.97982	0.0:0.0:1.0:0.0	.	258;258	E7ER80;P53677	.;AP3M2_HUMAN	L	258;258;258;143;258;121	ENSP00000428787:R258L;ENSP00000174653:R258L;ENSP00000380132:R258L;ENSP00000430616:R143L;ENSP00000429435:R258L;ENSP00000429037:R121L	ENSP00000174653:R258L	R	+	2	0	AP3M2	42142205	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.297000	0.72757	2.749000	0.94314	0.655000	0.94253	CGC		0.463	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1				14	216	1	0	2.61681e-11	0.00245	2.84009e-11	14	216		
PLAG1	5324	broad.mit.edu	37	8	57079984	57079984	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr8:57079984C>T	ENST00000316981.3	-	5	800	c.321G>A	c.(319-321)ctG>ctA	p.L107L	PLAG1_ENST00000423799.2_Silent_p.L25L|PLAG1_ENST00000429357.2_Silent_p.L107L	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	107	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GGTGATTCTTCAGATGATCTT	0.393			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																	uc003xsq.3		NaN		Dom	yes		8	8q12	5324	T	pleiomorphic adenoma gene 1			E	TCEA1|LIFR|CTNNB1|CHCHD7		salivary adenoma	CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	0				salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129						c.(319-321)CTG>CTA		pleiomorphic adenoma gene 1 isoform b							129.0	102.0	111.0					8																	57079984		2203	4300	6503	SO:0001819	synonymous_variant	5324					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:57079984C>T	U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.321G>A	8.37:g.57079984C>T						PLAG1_uc003xsr.3_Silent_p.L107L|PLAG1_uc010lyi.2_Silent_p.L107L|PLAG1_uc010lyj.2_Silent_p.L25L	p.L107L	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Epithelial(17;0.00179)|all cancers(17;0.0125)		3	772	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	107			Decreased nuclear import with localization in the nucleus but also in the cytoplasm.|C2H2-type 3.		B4DLC2|Q59GH8|Q9Y4L2	Silent	SNP	ENST00000316981.3	37	c.321G>A	CCDS6165.1																																																																																				0.393	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1		NM_002655		4	28	0	0	0	0.009096	0	4	28		
CPA6	57094	broad.mit.edu	37	8	68334769	68334769	+	Silent	SNP	G	G	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr8:68334769G>T	ENST00000297770.4	-	11	1499	c.1284C>A	c.(1282-1284)atC>atA	p.I428I	CPA6_ENST00000297769.4_Silent_p.I184I	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	428						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GGTGCATTGTGATATTTTTCA	0.453																																						uc003xxq.3		NaN																	0				ovary(2)	2						c.(1282-1284)ATC>ATA		carboxypeptidase A6 isoform 1 precursor							169.0	162.0	164.0					8																	68334769		2203	4300	6503	SO:0001819	synonymous_variant	57094				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr8:68334769G>T	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.1284C>A	8.37:g.68334769G>T						CPA6_uc003xxr.3_Silent_p.I184I	p.I428I	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		11	1540	-			428					Q8NEX8|Q8TDE8|Q9NRI9	Silent	SNP	ENST00000297770.4	37	c.1284C>A	CCDS6200.1																																																																																				0.453	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2		NM_020361		12	173	1	0	4.3838e-07	0.001855	4.66237e-07	12	173		
VPS13B	157680	broad.mit.edu	37	8	100796630	100796630	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr8:100796630G>A	ENST00000358544.2	+	43	8053	c.7942G>A	c.(7942-7944)Gat>Aat	p.D2648N	VPS13B_ENST00000357162.2_Missense_Mutation_p.D2623N|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2648					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGGCCAGGTGGATACTGATGA	0.468																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NaN																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(7942-7944)GAT>AAT		vacuolar protein sorting 13B isoform 5							137.0	133.0	134.0					8																	100796630		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100796630G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7942G>A	8.37:g.100796630G>A	ENSP00000351346:p.Asp2648Asn					VPS13B_uc003yiw.2_Missense_Mutation_p.D2623N	p.D2648N	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		43	8053	+	Breast(36;3.73e-07)		2648					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.7942G>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634192	0.87660	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69435	-0.4;-0.4	5.47	5.47	0.80525	Vacuolar protein sorting-associated protein (1);	0.000000	0.85682	D	0.000000	T	0.77184	0.4093	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.986;0.999	T	0.74019	-0.3799	10	0.33940	T	0.23	.	19.3131	0.94199	0.0:0.0:1.0:0.0	.	2623;2648	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	N	2623;2648	ENSP00000349685:D2623N;ENSP00000351346:D2648N	ENSP00000349685:D2623N	D	+	1	0	VPS13B	100865806	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.790000	0.99075	2.584000	0.87258	0.655000	0.94253	GAT		0.468	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1		NM_184042		22	179	0	0	0	0.012319	0	22	179		
YWHAZ	7534	broad.mit.edu	37	8	101932934	101932934	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr8:101932934C>G	ENST00000395957.2	-	7	1066	c.725G>C	c.(724-726)gGa>gCa	p.G242A	YWHAZ_ENST00000395956.3_Missense_Mutation_p.G242A|YWHAZ_ENST00000521309.1_Missense_Mutation_p.G122A|YWHAZ_ENST00000395953.2_Missense_Mutation_p.G242A|YWHAZ_ENST00000457309.1_Missense_Mutation_p.G242A|YWHAZ_ENST00000353245.3_Missense_Mutation_p.G242A|YWHAZ_ENST00000522819.1_Missense_Mutation_p.G122A|YWHAZ_ENST00000419477.2_Missense_Mutation_p.G242A|YWHAZ_ENST00000395958.2_Missense_Mutation_p.G242A|YWHAZ_ENST00000395948.2_Missense_Mutation_p.G165A|YWHAZ_ENST00000522542.1_Missense_Mutation_p.G167A|YWHAZ_ENST00000395951.3_Missense_Mutation_p.G242A			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta	242					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|gene expression (GO:0010467)|histamine secretion by mast cell (GO:0002553)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting to mitochondrion (GO:0006626)|response to drug (GO:0042493)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mast cell granule (GO:0042629)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)			ATTTTCCCCTCCTTCTCCTGC	0.453																																						uc011lhe.1		NaN																	0					0						c.(724-726)GGA>GCA		tyrosine 3/tryptophan 5 -monooxygenase	Ginkgo biloba(DB01381)						50.0	56.0	54.0					8																	101932934		2203	4297	6500	SO:0001583	missense	7534				anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding	g.chr8:101932934C>G	U28964	CCDS6290.1	8q22.3	2013-12-03	2013-12-03		ENSG00000164924	ENSG00000164924			12855	protein-coding gene	gene with protein product	"""14-3-3 zeta"", ""14-3-3 delta"""	601288	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide"""	YWHAD		8617504, 7890696	Standard	NM_003406		Approved	KCIP-1, 14-3-3-zeta	uc010mbr.2	P63104	OTTHUMG00000134291	ENST00000395957.2:c.725G>C	8.37:g.101932934C>G	ENSP00000379287:p.Gly242Ala					YWHAZ_uc003yjv.2_Missense_Mutation_p.G242A|YWHAZ_uc011lhf.1_Missense_Mutation_p.G242A|YWHAZ_uc003yjw.2_Missense_Mutation_p.G242A|YWHAZ_uc010mbq.2_Missense_Mutation_p.G165A|YWHAZ_uc011lhg.1_Missense_Mutation_p.G122A|YWHAZ_uc010mbr.2_Missense_Mutation_p.G242A|YWHAZ_uc003yjx.2_Missense_Mutation_p.G242A	p.G242A	NM_001135702	NP_001129174	P63104	1433Z_HUMAN	Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		6	902	-	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		242					A8K1N0|B7Z465|P29213|P29312|Q32P43|Q5XJ08|Q6GPI2|Q6IN74|Q6NUR9|Q6P3U9|Q86V33	Missense_Mutation	SNP	ENST00000395957.2	37	c.725G>C	CCDS6290.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984143	0.53827	.	.	ENSG00000164924	ENST00000395957;ENST00000457309;ENST00000395958;ENST00000395956;ENST00000353245;ENST00000522542;ENST00000521309;ENST00000517797;ENST00000522819;ENST00000395953;ENST00000395948;ENST00000395951;ENST00000419477	T;T;T;T;T;T;T;T;T;T;T;T	0.49432	0.87;0.87;0.87;0.87;0.87;0.78;0.84;0.84;0.87;0.87;0.87;0.87	4.63	4.63	0.57726	14-3-3 domain (1);	0.000000	0.64402	D	0.000004	T	0.50034	0.1592	M	0.69823	2.125	0.53688	D	0.999979	B	0.09022	0.002	B	0.01281	0.0	T	0.50250	-0.8850	10	0.38643	T	0.18	.	17.9109	0.88934	0.0:1.0:0.0:0.0	.	242	P63104	1433Z_HUMAN	A	242;242;242;242;242;167;122;165;122;242;165;242;242	ENSP00000379287:G242A;ENSP00000398599:G242A;ENSP00000379288:G242A;ENSP00000379286:G242A;ENSP00000309503:G242A;ENSP00000430072:G167A;ENSP00000429623:G122A;ENSP00000428775:G122A;ENSP00000379283:G242A;ENSP00000379278:G165A;ENSP00000379281:G242A;ENSP00000395114:G242A	ENSP00000309503:G242A	G	-	2	0	YWHAZ	102002110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.416000	0.59815	2.296000	0.77279	0.580000	0.79431	GGA		0.453	YWHAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259017.2		NM_145690		6	88	0	0	0	0.001984	0	6	88		
CSMD3	114788	broad.mit.edu	37	8	113299395	113299395	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr8:113299395T>A	ENST00000297405.5	-	58	9473	c.9229A>T	c.(9229-9231)Act>Tct	p.T3077S	CSMD3_ENST00000352409.3_Missense_Mutation_p.T3007S|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3037S|CSMD3_ENST00000455883.2_Missense_Mutation_p.T2908S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3077	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAACGTACAGTACTTTTAGTT	0.473										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NaN																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9229-9231)ACT>TCT		CUB and Sushi multiple domains 3 isoform 1							176.0	149.0	158.0					8																	113299395		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113299395T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9229A>T	8.37:g.113299395T>A	ENSP00000297405:p.Thr3077Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.T2279S|CSMD3_uc003ynt.2_Missense_Mutation_p.T3037S|CSMD3_uc011lhx.1_Missense_Mutation_p.T2908S	p.T3077S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			58	9388	-			3077			Extracellular (Potential).|Sushi 22.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9229A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	11.47	1.648392	0.29336	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.36	1.67	0.24075	Complement control module (2);Sushi/SCR/CCP (3);	0.652914	0.14801	N	0.297625	T	0.42988	0.1227	L	0.37850	1.14	0.19945	N	0.999944	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.003	T	0.23190	-1.0195	10	0.11485	T	0.65	.	4.4615	0.11668	0.1764:0.2468:0.0:0.5768	.	2908;3077;3037	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	3037;3077;2347;2908;3007	ENSP00000345799:T3037S;ENSP00000297405:T3077S;ENSP00000341558:T2347S;ENSP00000412263:T2908S;ENSP00000343124:T3007S	ENSP00000297405:T3077S	T	-	1	0	CSMD3	113368571	0.774000	0.28592	0.972000	0.41901	0.991000	0.79684	2.222000	0.42926	0.107000	0.17824	-0.256000	0.11100	ACT		0.473	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900		9	130	0	0	0	0.004482	0	9	130		
DENND3	22898	broad.mit.edu	37	8	142161801	142161801	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr8:142161801C>T	ENST00000262585.2	+	7	977	c.699C>T	c.(697-699)ttC>ttT	p.F233F	DENND3_ENST00000519811.1_Silent_p.F313F|DENND3_ENST00000424248.1_Silent_p.F233F	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	233	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGAGTGCTTCATGGCCTACC	0.602																																						uc003yvy.2		NaN																	0				ovary(1)	1						c.(697-699)TTC>TTT		DENN/MADD domain containing 3							173.0	138.0	150.0					8																	142161801		2203	4300	6503	SO:0001819	synonymous_variant	22898							g.chr8:142161801C>T	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.699C>T	8.37:g.142161801C>T						DENND3_uc010mep.2_Silent_p.F246F	p.F233F	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		7	977	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		233			DENN.		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	37	c.699C>T	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.324701	0.24080	.	.	ENSG00000105339	ENST00000518668	.	.	.	5.38	3.53	0.40419	.	.	.	.	.	T	0.59376	0.2189	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56220	-0.8015	4	.	.	.	-27.0902	9.3845	0.38333	0.0:0.7028:0.0:0.2972	.	.	.	.	Y	290	.	.	H	+	1	0	DENND3	142230983	0.039000	0.19947	0.966000	0.40874	0.922000	0.55478	0.218000	0.17622	1.224000	0.43551	0.563000	0.77884	CAT		0.602	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_014957		36	168	0	0	0	0.013726	0	36	168		
KIFC2	90990	broad.mit.edu	37	8	145693121	145693121	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr8:145693121G>C	ENST00000301332.2	+	6	1017	c.640G>C	c.(640-642)Gaa>Caa	p.E214Q	KIFC2_ENST00000301331.5_5'UTR|CYHR1_ENST00000438911.2_5'Flank|CTD-2517M22.16_ENST00000525461.1_RNA|CYHR1_ENST00000424149.2_5'Flank|CYHR1_ENST00000306145.5_5'Flank|CYHR1_ENST00000403000.2_5'Flank	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	214	Gln-rich.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCAGCAGCTGGAACAGCAGGA	0.647											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zcz.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(640-642)GAA>CAA		kinesin family member C2							45.0	47.0	47.0					8																	145693121		2203	4300	6503	SO:0001583	missense	90990				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr8:145693121G>C	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.640G>C	8.37:g.145693121G>C	ENSP00000301332:p.Glu214Gln		OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1696	CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	p.E214Q	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		6	705	+	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		214			Potential.|Gln-rich.		E9PHB2|Q96NN6	Missense_Mutation	SNP	ENST00000301332.2	37	c.640G>C	CCDS6427.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.67|18.67	3.674605|3.674605	0.67928|0.67928	.|.	.|.	ENSG00000167702|ENSG00000167702	ENST00000301332|ENST00000528415	T|.	0.45668|.	0.89|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.227181|.	0.22550|.	N|.	0.058612|.	T|T	0.33147|0.33147	0.0853|0.0853	N|N	0.19112|0.19112	0.55|0.55	0.27036|0.27036	N|N	0.964123|0.964123	B|.	0.22346|.	0.068|.	B|.	0.15870|.	0.014|.	T|T	0.19745|0.19745	-1.0296|-1.0296	10|5	0.22706|.	T|.	0.39|.	-1.3752|-1.3752	12.2633|12.2633	0.54663|0.54663	0.0:0.1715:0.8285:0.0|0.0:0.1715:0.8285:0.0	.|.	214|.	Q96AC6|.	KIFC2_HUMAN|.	Q|A	214|34	ENSP00000301332:E214Q|.	ENSP00000301332:E214Q|.	E|G	+|+	1|2	0|0	KIFC2|KIFC2	145663929|145663929	0.000000|0.000000	0.05858|0.05858	0.615000|0.615000	0.29064|0.29064	0.866000|0.866000	0.49608|0.49608	0.248000|0.248000	0.18198|0.18198	2.493000|2.493000	0.84123|0.84123	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.647	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2		NM_145754		15	97	0	0	0	0.00245	0	15	97		
PLIN2	123	broad.mit.edu	37	9	19119735	19119735	+	Silent	SNP	A	A	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr9:19119735A>T	ENST00000276914.2	-	6	869	c.690T>A	c.(688-690)cgT>cgA	p.R230R	PLIN2_ENST00000411567.1_Intron	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	230					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						GCTGGTAGGCACGGGAGTGAA	0.433																																						uc003zno.2		NaN																	0				ovary(2)	2						c.(688-690)CGT>CGA		adipose differentiation-related protein							173.0	180.0	177.0					9																	19119735		2203	4300	6503	SO:0001819	synonymous_variant	123				cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		g.chr9:19119735A>T	X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.690T>A	9.37:g.19119735A>T						PLIN2_uc011lna.1_Silent_p.R202R|PLIN2_uc011lnb.1_Missense_Mutation_p.V187E	p.R230R	NM_001122	NP_001113	Q99541	PLIN2_HUMAN			6	869	-			230					Q9BSC3	Silent	SNP	ENST00000276914.2	37	c.690T>A	CCDS6490.1																																																																																				0.433	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1		NM_001122		10	140	0	0	0	0.008291	0	10	140		
PLIN2	123	broad.mit.edu	37	9	19119764	19119764	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr9:19119764C>A	ENST00000276914.2	-	6	840	c.661G>T	c.(661-663)Gga>Tga	p.G221*	PLIN2_ENST00000411567.1_Intron	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	221					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G221*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						GACAGGGATCCCAGTCTAACA	0.413																																						uc003zno.2		NaN																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(661-663)GGA>TGA		adipose differentiation-related protein							178.0	183.0	181.0					9																	19119764		2203	4300	6503	SO:0001587	stop_gained	123				cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		g.chr9:19119764C>A	X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.661G>T	9.37:g.19119764C>A	ENSP00000276914:p.Gly221*					PLIN2_uc011lna.1_Nonsense_Mutation_p.G193*|PLIN2_uc011lnb.1_Missense_Mutation_p.W177C	p.G221*	NM_001122	NP_001113	Q99541	PLIN2_HUMAN			6	840	-			221					Q9BSC3	Nonsense_Mutation	SNP	ENST00000276914.2	37	c.661G>T	CCDS6490.1	.	.	.	.	.	.	.	.	.	.	C	39	7.413430	0.98269	.	.	ENSG00000147872	ENST00000276914	.	.	.	5.98	5.98	0.97165	.	0.184300	0.46758	D	0.000267	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	20.5176	0.99214	0.0:1.0:0.0:0.0	.	.	.	.	X	221	.	ENSP00000276914:G221X	G	-	1	0	PLIN2	19109764	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.949000	0.70257	2.852000	0.98041	0.644000	0.83932	GGA		0.413	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1		NM_001122		8	140	1	0	7.48243e-07	0.006214	7.93137e-07	8	140		
PLIN2	123	broad.mit.edu	37	9	19121087	19121087	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr9:19121087G>A	ENST00000276914.2	-	5	565	c.386C>T	c.(385-387)tCt>tTt	p.S129F	PLIN2_ENST00000411567.1_Missense_Mutation_p.S129F	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	129					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						GCTGGCCACAGAATCCTTGGC	0.532																																						uc003zno.2		NaN																	0				ovary(2)	2						c.(385-387)TCT>TTT		adipose differentiation-related protein							133.0	113.0	120.0					9																	19121087		2203	4300	6503	SO:0001583	missense	123				cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		g.chr9:19121087G>A	X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.386C>T	9.37:g.19121087G>A	ENSP00000276914:p.Ser129Phe					PLIN2_uc011lna.1_Missense_Mutation_p.S101F|PLIN2_uc011lnb.1_Missense_Mutation_p.S129F	p.S129F	NM_001122	NP_001113	Q99541	PLIN2_HUMAN			5	565	-			129					Q9BSC3	Missense_Mutation	SNP	ENST00000276914.2	37	c.386C>T	CCDS6490.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.695621	0.88830	.	.	ENSG00000147872	ENST00000411567;ENST00000276914	T;T	0.08896	3.04;3.04	5.41	4.51	0.55191	.	0.978474	0.08404	N	0.950999	T	0.27063	0.0663	M	0.74881	2.28	0.23376	N	0.997803	B;D	0.54601	0.041;0.967	B;P	0.59761	0.045;0.863	T	0.10451	-1.0629	10	0.48119	T	0.1	.	12.5608	0.56279	0.0769:0.0:0.9231:0.0	.	129;129	E9PG83;Q99541	.;PLIN2_HUMAN	F	129	ENSP00000415270:S129F;ENSP00000276914:S129F	ENSP00000276914:S129F	S	-	2	0	PLIN2	19111087	0.997000	0.39634	0.862000	0.33874	0.957000	0.61999	4.091000	0.57700	1.433000	0.47394	0.650000	0.86243	TCT		0.532	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1		NM_001122		7	72	0	0	0	0.001984	0	7	72		
KIAA1161	57462	broad.mit.edu	37	9	34372105	34372105	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr9:34372105C>T	ENST00000297625.7	-	2	960	c.735G>A	c.(733-735)ctG>ctA	p.L245L		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	279					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.L245L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CTCGGTAGCTCAGCTCTGGCG	0.667																																						uc003zue.3		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(835-837)CTG>CTA		hypothetical protein LOC57462							26.0	30.0	28.0					9																	34372105		2134	4240	6374	SO:0001819	synonymous_variant	57462				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr9:34372105C>T	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.735G>A	9.37:g.34372105C>T							p.L279L	NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	3	1004	-			279			Extracellular (Potential).		Q5T587|Q5T588|Q9ULQ9	Silent	SNP	ENST00000297625.7	37	c.837G>A																																																																																					0.667	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1		XM_351807		4	57	0	0	0	0.000602	0	4	57		
KIAA1161	57462	broad.mit.edu	37	9	34372876	34372876	+	5'UTR	SNP	T	T	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr9:34372876T>C	ENST00000297625.7	-	0	189					NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161						carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TCTGACGCTATGCGTAGCAGC	0.637																																						uc003zue.3		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(64-66)GCA>GCG		hypothetical protein LOC57462							69.0	83.0	78.0					9																	34372876		1988	4148	6136	SO:0001623	5_prime_UTR_variant	57462				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr9:34372876T>C	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.-37A>G	9.37:g.34372876T>C							p.A22A	NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	2	233	-			22			Cytoplasmic (Potential).		Q5T587|Q5T588|Q9ULQ9	Silent	SNP	ENST00000297625.7	37	c.66A>G																																																																																					0.637	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1		XM_351807		11	224	0	0	0	0.008291	0	11	224		
TRPM3	80036	broad.mit.edu	37	9	73167853	73167853	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr9:73167853T>C	ENST00000377111.2	-	23	3688	c.3445A>G	c.(3445-3447)Atc>Gtc	p.I1149V	TRPM3_ENST00000358082.3_Missense_Mutation_p.I1011V|TRPM3_ENST00000357533.2_Missense_Mutation_p.I1153V|TRPM3_ENST00000377110.3_Missense_Mutation_p.I1149V|TRPM3_ENST00000396280.5_Missense_Mutation_p.I998V|TRPM3_ENST00000377106.1_Missense_Mutation_p.I1021V|TRPM3_ENST00000408909.2_Missense_Mutation_p.I1008V|TRPM3_ENST00000360823.2_Missense_Mutation_p.I1011V|TRPM3_ENST00000423814.3_Missense_Mutation_p.I1176V|TRPM3_ENST00000377105.1_Missense_Mutation_p.I1008V|TRPM3_ENST00000396292.4_Missense_Mutation_p.I1021V|TRPM3_ENST00000396285.1_Missense_Mutation_p.I1008V	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1174					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTGAAGATGATCAGTGGTGGG	0.483																																						uc004aid.2		NaN																	0				ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(3445-3447)ATC>GTC		transient receptor potential cation channel,							165.0	162.0	163.0					9																	73167853		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73167853T>C	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3445A>G	9.37:g.73167853T>C	ENSP00000366315:p.Ile1149Val					TRPM3_uc004ahu.2_Missense_Mutation_p.I991V|TRPM3_uc004ahv.2_Missense_Mutation_p.I951V|TRPM3_uc004ahw.2_Missense_Mutation_p.I1021V|TRPM3_uc004ahx.2_Missense_Mutation_p.I1008V|TRPM3_uc004ahy.2_Missense_Mutation_p.I1011V|TRPM3_uc004ahz.2_Missense_Mutation_p.I998V|TRPM3_uc004aia.2_Missense_Mutation_p.I996V|TRPM3_uc004aib.2_Missense_Mutation_p.I986V|TRPM3_uc004aic.2_Missense_Mutation_p.I1149V	p.I1149V	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			23	3689	-			1174			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.3445A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.4|21.4	4.137374|4.137374	0.77775|0.77775	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|T;T;T;T;T;T;T;T;T;T;T	.|0.41065	.|1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.56232|0.56232	0.1971|0.1971	M|M	0.76328|0.76328	2.33|2.33	0.49299|0.49299	D|D	0.99977|0.99977	.|B;P;P;B;B;P;P;P	.|0.48350	.|0.369;0.825;0.73;0.44;0.253;0.633;0.909;0.866	.|B;P;P;B;B;B;P;P	.|0.50617	.|0.259;0.612;0.624;0.161;0.098;0.417;0.646;0.521	T|T	0.59172|0.59172	-0.7504|-0.7504	5|10	.|0.49607	.|T	.|0.09	-25.1175|-25.1175	16.1538|16.1538	0.81644|0.81644	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1149;1149;1139;1153;1011;1008;1121;1008	.|Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|.;.;.;.;.;.;.;.	G|V	997|1149;1149;1021;1011;1008;1153;1008;1008;1021;1011;1176	.|ENSP00000366315:I1149V;ENSP00000366314:I1149V;ENSP00000366310:I1021V;ENSP00000354066:I1011V;ENSP00000366309:I1008V;ENSP00000350140:I1153V;ENSP00000386127:I1008V;ENSP00000379581:I1008V;ENSP00000379587:I1021V;ENSP00000350791:I1011V;ENSP00000389542:I1176V	.|ENSP00000350140:I1153V	D|I	-|-	2|1	0|0	TRPM3|TRPM3	72357673|72357673	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.678000|0.678000	0.39670|0.39670	7.698000|7.698000	0.84413|0.84413	2.213000|2.213000	0.71641|0.71641	0.528000|0.528000	0.53228|0.53228	GAT|ATC		0.483	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5		NM_206945		22	202	0	0	0	0.010504	0	22	202		
FRMD3	257019	broad.mit.edu	37	9	85913693	85913693	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr9:85913693T>A	ENST00000304195.3	-	12	1246	c.1040A>T	c.(1039-1041)aAg>aTg	p.K347M	FRMD3_ENST00000376438.1_Missense_Mutation_p.K347M|FRMD3_ENST00000376434.1_Missense_Mutation_p.K153M	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	347						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CCTCTGGATCTTGGAACTGGC	0.498																																						uc004ams.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1039-1041)AAG>ATG		FERM domain containing 3							84.0	83.0	83.0					9																	85913693		1968	4166	6134	SO:0001583	missense	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85913693T>A	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1040A>T	9.37:g.85913693T>A	ENSP00000303508:p.Lys347Met					FRMD3_uc004amr.1_Missense_Mutation_p.K333M	p.K347M	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN			12	1242	-			347					A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	c.1040A>T	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.038758	0.55003	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000304195;ENST00000431299;ENST00000376422	D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21	5.23	2.91	0.33838	FERM adjacent (FA) (1);	0.182139	0.64402	D	0.000019	D	0.87241	0.6128	L	0.59436	1.845	0.58432	D	0.999992	P;P	0.51933	0.949;0.937	P;P	0.52031	0.688;0.561	D	0.84576	0.0658	10	0.51188	T	0.08	.	8.7128	0.34393	0.0:0.1586:0.0:0.8414	.	347;347	A2A2Y4;A2A2Y4-2	FRMD3_HUMAN;.	M	347;153;347;116;243	ENSP00000365621:K347M;ENSP00000365617:K153M;ENSP00000303508:K347M;ENSP00000412719:K116M	ENSP00000303508:K347M	K	-	2	0	FRMD3	85103513	1.000000	0.71417	0.996000	0.52242	0.426000	0.31534	3.690000	0.54713	0.410000	0.25675	0.533000	0.62120	AAG		0.498	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1		NM_174938		7	61	0	0	0	0.001984	0	7	61		
DAPK1	1612	broad.mit.edu	37	9	90262280	90262280	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr9:90262280C>G	ENST00000408954.3	+	14	1626	c.1291C>G	c.(1291-1293)Ctc>Gtc	p.L431V	DAPK1_ENST00000358077.5_Missense_Mutation_p.L431V|DAPK1_ENST00000469640.2_Missense_Mutation_p.L431V|DAPK1_ENST00000491893.1_Missense_Mutation_p.L431V|DAPK1_ENST00000472284.1_Missense_Mutation_p.L431V	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	431					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						CTTGAAATTTCTCAGTGAGAA	0.502									Chronic Lymphocytic Leukemia, Familial Clustering of																													uc004apc.2		NaN																	0				ovary(1)|breast(1)	2						c.(1291-1293)CTC>GTC		death-associated protein kinase 1							113.0	117.0	115.0					9																	90262280		2023	4182	6205	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.chr9:90262280C>G	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.1291C>G	9.37:g.90262280C>G	ENSP00000386135:p.Leu431Val					DAPK1_uc004ape.2_Missense_Mutation_p.L431V|DAPK1_uc004apd.2_Missense_Mutation_p.L431V|DAPK1_uc011ltg.1_Missense_Mutation_p.L431V|DAPK1_uc011lth.1_Missense_Mutation_p.L168V|DAPK1_uc004apf.1_5'UTR	p.L431V	NM_004938	NP_004929	P53355	DAPK1_HUMAN			14	1429	+			431			ANK 2.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.1291C>G	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711282	0.68730	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.80033	1.32;1.32;-1.33;1.32;-1.33	4.74	4.74	0.60224	Ankyrin repeat-containing domain (4);	0.000000	0.44902	D	0.000412	D	0.90079	0.6901	M	0.84219	2.685	0.58432	D	0.999999	P;D;D	0.69078	0.489;0.997;0.993	B;D;D	0.79108	0.211;0.992;0.967	D	0.89525	0.3781	10	0.39692	T	0.17	.	18.2799	0.90096	0.0:1.0:0.0:0.0	.	431;431;431	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	V	431	ENSP00000350785:L431V;ENSP00000417076:L431V;ENSP00000418885:L431V;ENSP00000386135:L431V;ENSP00000419026:L431V	ENSP00000350785:L431V	L	+	1	0	DAPK1	89452100	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.773000	0.68898	2.629000	0.89072	0.655000	0.94253	CTC		0.502	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1		NM_004938		13	69	0	0	0	0.001855	0	13	69		
ALAD	210	broad.mit.edu	37	9	116152053	116152053	+	Splice_Site	SNP	C	C	T	rs201127458		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr9:116152053C>T	ENST00000409155.3	-	8	822	c.626G>A	c.(625-627)cGg>cAg	p.R209Q	ALAD_ENST00000482001.1_5'Flank|ALAD_ENST00000277315.5_Splice_Site_p.R192Q	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	209					cellular response to interleukin-4 (GO:0071353)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protein homooligomerization (GO:0051260)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|identical protein binding (GO:0042802)|lead ion binding (GO:0032791)|porphobilinogen synthase activity (GO:0004655)|zinc ion binding (GO:0008270)	p.R238Q(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	CCCTGCTCACCGGAAAGGGCC	0.562																																						uc011lxf.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(625-627)CGG>CAG		delta-aminolevulinic acid dehydratase	Aminolevulinic acid(DB00855)						78.0	65.0	70.0					9																	116152053		2203	4300	6503	SO:0001630	splice_region_variant	210				heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding	g.chr9:116152053C>T	M13928	CCDS6794.2	9q32	2010-04-29	2010-04-29		ENSG00000148218	ENSG00000148218	4.2.1.24		395	protein-coding gene	gene with protein product	"""porphobilinogen synthase"""	125270	"""aminolevulinate, delta-, dehydratase"""			6839527, 6378062	Standard	NM_000031		Approved	ALADH, PBGS	uc011lxf.2	P13716	OTTHUMG00000020522	ENST00000409155.3:c.626+1G>A	9.37:g.116152053C>T						ALAD_uc011lxe.1_Missense_Mutation_p.R192Q|ALAD_uc004bhl.3_Missense_Mutation_p.R238Q	p.R209Q	NM_000031	NP_000022	P13716	HEM2_HUMAN			8	828	-			209				Substrate 1.	A8K375|B2R6F2|Q16870|Q16871|Q9BVQ9	Missense_Mutation	SNP	ENST00000409155.3	37	c.626G>A	CCDS6794.2	.	.	.	.	.	.	.	.	.	.	C	34	5.308064	0.95629	.	.	ENSG00000148218	ENST00000409155;ENST00000277315	D;D	0.92348	-3.02;-3.02	5.41	5.41	0.78517	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.97929	0.9319	H	0.99058	4.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.987;0.988	D	0.99624	1.0984	9	.	.	.	-8.4921	17.7737	0.88501	0.0:1.0:0.0:0.0	.	209;192;238	P13716;B7Z3I9;P13716-2	HEM2_HUMAN;.;.	Q	209;192	ENSP00000386284:R209Q;ENSP00000277315:R192Q	.	R	-	2	0	ALAD	115191874	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	5.667000	0.68067	2.524000	0.85096	0.655000	0.94253	CGG		0.562	ALAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053724.3		NM_001003945	Missense_Mutation	6	41	0	0	0	0.001168	0	6	41		
ADAMTS13	11093	broad.mit.edu	37	9	136324257	136324257	+	Silent	SNP	G	G	A	rs587765258	byFrequency	TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr9:136324257G>A	ENST00000371929.3	+	29	4683	c.4239G>A	c.(4237-4239)ccG>ccA	p.P1413P	CACFD1_ENST00000542192.1_5'Flank|CACFD1_ENST00000291722.7_5'Flank|ADAMTS13_ENST00000356589.2_Silent_p.P1326P|ADAMTS13_ENST00000355699.2_Silent_p.P1357P|CACFD1_ENST00000316948.4_5'Flank|ADAMTS13_ENST00000371910.1_Silent_p.P209P|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR|CACFD1_ENST00000540581.1_5'Flank	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1413	CUB 2.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CATGGGTACCGGAGATGCAGG	0.597													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		17281	0.0		0.0	False		,,,				2504	0.0					uc004cdv.3		NaN																	0				central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6						c.(4237-4239)CCG>CCA		ADAM metallopeptidase with thrombospondin type 1							39.0	36.0	37.0					9																	136324257		2200	4300	6500	SO:0001819	synonymous_variant	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136324257G>A	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.4239G>A	9.37:g.136324257G>A						ADAMTS13_uc004cdp.3_3'UTR|ADAMTS13_uc004cdt.1_Silent_p.P1357P|ADAMTS13_uc004cdu.1_Silent_p.P1326P|ADAMTS13_uc004cdw.3_Silent_p.P1357P|ADAMTS13_uc004cdx.3_Silent_p.P1326P|ADAMTS13_uc004cdz.3_Silent_p.P1083P|ADAMTS13_uc004ceb.3_Silent_p.P209P|C9orf7_uc011mdg.1_5'Flank|C9orf7_uc004cec.2_5'Flank|C9orf7_uc011mdh.1_5'Flank|C9orf7_uc011mdi.1_5'Flank|C9orf7_uc010nan.2_5'Flank	p.P1413P	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	29	4683	+			1413			CUB 2.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Silent	SNP	ENST00000371929.3	37	c.4239G>A	CCDS6970.1																																																																																				0.597	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1		NM_139025		3	27	0	0	0	0.004672	0	3	27		
RXRA	6256	broad.mit.edu	37	9	137328331	137328331	+	Silent	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr9:137328331C>G	ENST00000481739.1	+	10	1312	c.1260C>G	c.(1258-1260)ctC>ctG	p.L420L	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000540193.1_Silent_p.L323L	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	420	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)	p.L420L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	AGCTCTTGCTCCGCCTGCCGG	0.612																																						uc004cfb.2		NaN																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1258-1260)CTC>CTG		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						109.0	98.0	102.0					9																	137328331		2203	4300	6503	SO:0001819	synonymous_variant	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137328331C>G	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.1260C>G	9.37:g.137328331C>G						RXRA_uc004cfc.1_Silent_p.L323L	p.L420L	NM_002957	NP_002948	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	10	1422	+			420			Ligand-binding.		B3KY83|Q2NL52|Q2V504	Silent	SNP	ENST00000481739.1	37	c.1260C>G	CCDS35172.1																																																																																				0.612	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1		NM_002957		9	144	0	0	0	0.004482	0	9	144		
ANAPC2	29882	broad.mit.edu	37	9	140074639	140074639	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr9:140074639C>G	ENST00000323927.2	-	10	1888	c.1884G>C	c.(1882-1884)caG>caC	p.Q628H		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	628					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GTACCTTGAGCTGCTCATACT	0.632																																						uc004clr.1		NaN																	0				ovary(1)	1						c.(1882-1884)CAG>CAC		anaphase-promoting complex subunit 2							73.0	64.0	67.0					9																	140074639		2203	4300	6503	SO:0001583	missense	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140074639C>G	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1884G>C	9.37:g.140074639C>G	ENSP00000314004:p.Gln628His					ANAPC2_uc004clq.1_Missense_Mutation_p.Q484H	p.Q628H	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	10	1957	-	all_cancers(76;0.0926)		628					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	c.1884G>C	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.716316	0.30413	.	.	ENSG00000176248	ENST00000323927	T	0.74632	-0.86	4.51	2.6	0.31112	Cullin, N-terminal (1);Cullin homology (3);	0.196755	0.41823	D	0.000813	T	0.51261	0.1664	N	0.12746	0.255	0.26691	N	0.971357	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40905	-0.9538	10	0.45353	T	0.12	-20.6991	5.3923	0.16251	0.0:0.6439:0.0:0.3561	.	628;625	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	H	628	ENSP00000314004:Q628H	ENSP00000314004:Q628H	Q	-	3	2	ANAPC2	139194460	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	1.001000	0.29783	0.855000	0.35359	0.313000	0.20887	CAG		0.632	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1		NM_013366		5	38	0	0	0	0.000602	0	5	38		
ANAPC2	29882	broad.mit.edu	37	9	140076196	140076196	+	Missense_Mutation	SNP	C	C	T	rs142080330		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr9:140076196C>T	ENST00000323927.2	-	7	1409	c.1405G>A	c.(1405-1407)Gac>Aac	p.D469N		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	469					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TCCTCACTGTCCTGGCCTGTC	0.652																																						uc004clr.1		NaN																	0				ovary(1)	1						c.(1405-1407)GAC>AAC		anaphase-promoting complex subunit 2		C	ASN/ASP	1,4403	2.1+/-5.4	0,1,2201	61.0	55.0	57.0		1405	5.2	1.0	9	dbSNP_134	57	0,8596		0,0,4298	no	missense	ANAPC2	NM_013366.3	23	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	benign	469/823	140076196	1,12999	2202	4298	6500	SO:0001583	missense	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140076196C>T	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1405G>A	9.37:g.140076196C>T	ENSP00000314004:p.Asp469Asn					ANAPC2_uc004clq.1_Missense_Mutation_p.D325N	p.D469N	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	7	1478	-	all_cancers(76;0.0926)		469					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	c.1405G>A	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039689	0.55003	2.27E-4	0.0	ENSG00000176248	ENST00000323927	T	0.74002	-0.8	5.17	5.17	0.71159	.	0.097071	0.64402	D	0.000001	T	0.66137	0.2759	L	0.33189	0.99	0.80722	D	1	B;B	0.20550	0.046;0.037	B;B	0.20384	0.029;0.017	T	0.62595	-0.6821	10	0.41790	T	0.15	-37.1786	16.1553	0.81664	0.0:1.0:0.0:0.0	.	469;466	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	N	469	ENSP00000314004:D469N	ENSP00000314004:D469N	D	-	1	0	ANAPC2	139196017	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	7.217000	0.77982	2.423000	0.82170	0.561000	0.74099	GAC		0.652	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1		NM_013366		5	45	0	0	0	0.000602	0	5	45		
MXRA5	25878	broad.mit.edu	37	X	3238516	3238516	+	Missense_Mutation	SNP	G	G	C	rs201840964		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chrX:3238516G>C	ENST00000217939.6	-	5	5364	c.5210C>G	c.(5209-5211)aCt>aGt	p.T1737S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1737						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAAAGAAAGAGTCTTGTTGGT	0.463																																						uc004crg.3		NaN																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(5209-5211)ACT>AGT		adlican precursor							63.0	58.0	60.0					X																	3238516		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3238516G>C	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5210C>G	X.37:g.3238516G>C	ENSP00000217939:p.Thr1737Ser						p.T1737S	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	5367	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1737					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.5210C>G	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	8.981	0.975354	0.18736	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.67171	-0.25	3.18	0.937	0.19494	.	0.188886	0.25394	U	0.030985	T	0.59487	0.2197	N	0.08118	0	0.19300	N	0.999972	D	0.63880	0.993	D	0.70227	0.968	T	0.53041	-0.8494	10	0.32370	T	0.25	.	10.42	0.44344	0.0:0.0:0.6737:0.3263	.	1737	Q9NR99	MXRA5_HUMAN	S	1737	ENSP00000217939:T1737S	ENSP00000217939:T1737S	T	-	2	0	MXRA5	3248516	0.989000	0.36119	0.039000	0.18376	0.540000	0.34992	2.660000	0.46749	1.220000	0.43490	0.287000	0.19450	ACT		0.463	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2		NM_015419		24	28	0	0	0	0.014323	0	24	28		
USP11	8237	broad.mit.edu	37	X	47092454	47092454	+	Silent	SNP	C	C	T	rs377322344		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chrX:47092454C>T	ENST00000218348.3	+	1	141	c.141C>T	c.(139-141)gtC>gtT	p.V47V	USP11_ENST00000377107.2_Silent_p.V4V	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	47					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						tggcgacggtcgcagcaaatc	0.647																																						uc004dhp.2		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(139-141)GTC>GTT		ubiquitin specific peptidase 11		C		2,3827		0,2,1630,565	16.0	14.0	15.0		141	2.0	0.9	X		15	0,6718		0,0,2427,1864	no	coding-synonymous	USP11	NM_004651.3		0,2,4057,2429	TT,TC,CC,C		0.0,0.0522,0.019		47/964	47092454	2,10545	2197	4291	6488	SO:0001819	synonymous_variant	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47092454C>T	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.141C>T	X.37:g.47092454C>T							p.V47V	NM_004651	NP_004642	P51784	UBP11_HUMAN			1	141	+			47					B2RTX1|Q8IUG6|Q9BWE1	Silent	SNP	ENST00000218348.3	37	c.141C>T	CCDS14277.1																																																																																				0.647	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_004651		7	16	0	0	0	0.00308	0	7	16		
APEX2	27301	broad.mit.edu	37	X	55033806	55033806	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chrX:55033806C>T	ENST00000374987.3	+	6	1561	c.1495C>T	c.(1495-1497)Cgg>Tgg	p.R499W	ALAS2_ENST00000498636.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	499					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						TGCCAGGCCCCGGGGTCCTCC	0.642								Other BER factors																														uc004dtz.2		NaN																	0				breast(1)	1						c.(1495-1497)CGG>TGG	Other_BER_factors	apurinic/apyrimidinic endonuclease 2							16.0	13.0	14.0					X																	55033806		2198	4287	6485	SO:0001583	missense	27301				cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	g.chrX:55033806C>T	AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 2"""	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.1495C>T	X.37:g.55033806C>T	ENSP00000364126:p.Arg499Trp					APEX2_uc011mom.1_Missense_Mutation_p.R328W	p.R499W	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN			6	1571	+			499					Q9Y5X7	Missense_Mutation	SNP	ENST00000374987.3	37	c.1495C>T	CCDS14365.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436976	0.62955	.	.	ENSG00000169188	ENST00000374987	T	0.24908	1.83	4.84	2.91	0.33838	Zinc finger, GRF-type (1);	0.646613	0.15758	N	0.246091	T	0.33498	0.0865	L	0.50333	1.59	0.25168	N	0.990302	D	0.63046	0.992	P	0.55303	0.773	T	0.07158	-1.0787	10	0.62326	D	0.03	-0.153	7.6277	0.28222	0.0:0.6343:0.2684:0.0973	.	499	Q9UBZ4	APEX2_HUMAN	W	499	ENSP00000364126:R499W	ENSP00000364126:R499W	R	+	1	2	APEX2	55050531	0.964000	0.33143	0.547000	0.28179	0.862000	0.49288	2.633000	0.46519	1.127000	0.42034	0.436000	0.28706	CGG		0.642	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1				4	13	0	0	0	0.009096	0	4	13		
KLHL4	56062	broad.mit.edu	37	X	86869502	86869502	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chrX:86869502A>G	ENST00000373119.4	+	3	801	c.656A>G	c.(655-657)aAa>aGa	p.K219R	KLHL4_ENST00000373114.4_Missense_Mutation_p.K219R	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	219	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CTTGAAGCCAAACAAGAAGAG	0.378																																						uc004efb.2		NaN																	0				ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(655-657)AAA>AGA		kelch-like 4 isoform 1							167.0	127.0	140.0					X																	86869502		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86869502A>G	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.656A>G	X.37:g.86869502A>G	ENSP00000362211:p.Lys219Arg					KLHL4_uc004efa.2_Missense_Mutation_p.K219R	p.K219R	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			3	838	+			219			BTB.		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.656A>G	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	A	4.227	0.041028	0.08196	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.68025	-0.3;-0.3	4.71	2.32	0.28847	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.111691	0.64402	N	0.000015	T	0.46889	0.1416	L	0.35854	1.095	0.51767	D	0.999931	B;B	0.09022	0.001;0.002	B;B	0.15052	0.012;0.007	T	0.34354	-0.9832	10	0.02654	T	1	.	7.3403	0.26633	0.8108:0.0:0.1892:0.0	.	219;219	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	R	219	ENSP00000362211:K219R;ENSP00000362206:K219R	ENSP00000362206:K219R	K	+	2	0	KLHL4	86756158	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	6.932000	0.75869	0.093000	0.17368	0.356000	0.21956	AAA		0.378	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1				5	40	0	0	0	0.000602	0	5	40		
TENM1	10178	broad.mit.edu	37	X	123554332	123554332	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chrX:123554332G>A	ENST00000371130.3	-	24	4853	c.4790C>T	c.(4789-4791)cCg>cTg	p.P1597L	TENM1_ENST00000422452.2_Missense_Mutation_p.P1604L|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1597					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AAGCCATAGCGGCATTCCGCC	0.493																																						uc004euj.2		NaN																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(4789-4791)CCG>CTG		odz, odd Oz/ten-m homolog 1 isoform 3							80.0	59.0	66.0					X																	123554332		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123554332G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4790C>T	X.37:g.123554332G>A	ENSP00000360171:p.Pro1597Leu					ODZ1_uc011muj.1_Missense_Mutation_p.P1603L|ODZ1_uc010nqy.2_Missense_Mutation_p.P1604L	p.P1597L	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			24	4854	-			1597			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.4790C>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	g	21.3	4.135858	0.77662	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85955	-2.05;-2.01	5.51	5.51	0.81932	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.91092	0.7196	M	0.64170	1.965	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.999	D;P;P	0.87578	0.998;0.808;0.866	D	0.89256	0.3594	10	0.29301	T	0.29	.	18.4751	0.90790	0.0:0.0:1.0:0.0	.	1603;1604;1597	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	L	1597;1604	ENSP00000360171:P1597L;ENSP00000403954:P1604L	ENSP00000360171:P1597L	P	-	2	0	ODZ1	123382013	1.000000	0.71417	0.999000	0.59377	0.526000	0.34562	9.862000	0.99564	2.304000	0.77564	0.509000	0.49947	CCG		0.493	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1		NM_014253		3	42	0	0	0	0.004672	0	3	42		
DCAF12L1	139170	broad.mit.edu	37	X	125685907	125685907	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chrX:125685907C>T	ENST00000371126.1	-	1	927	c.685G>A	c.(685-687)Gac>Aac	p.D229N		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	229										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCAACAGTGTCATCGAACTTG	0.637																																						uc004eul.2		NaN																	0				skin(3)|ovary(1)	4						c.(685-687)GAC>AAC		DDB1 and CUL4 associated factor 12-like 1							37.0	37.0	37.0					X																	125685907		2203	4299	6502	SO:0001583	missense	139170							g.chrX:125685907C>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.685G>A	X.37:g.125685907C>T	ENSP00000360167:p.Asp229Asn						p.D229N	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	936	-			229			WD 2.		Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.685G>A	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	0.868	-0.732965	0.03135	.	.	ENSG00000198889	ENST00000371126	T	0.63096	-0.02	4.13	0.222	0.15288	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.746757	0.11010	N	0.609536	T	0.34106	0.0886	N	0.08118	0	0.09310	N	1	B	0.23937	0.094	B	0.21360	0.034	T	0.18871	-1.0323	10	0.17832	T	0.49	.	5.1519	0.15015	0.0:0.5419:0.1617:0.2964	.	229	Q5VU92	DC121_HUMAN	N	229	ENSP00000360167:D229N	ENSP00000360167:D229N	D	-	1	0	DCAF12L1	125513588	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.192000	0.17096	-0.094000	0.12374	0.429000	0.28392	GAC		0.637	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1		NM_178470		19	42	0	0	0	0.006122	0	19	42		
FAM127B	26071	broad.mit.edu	37	X	134186001	134186001	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chrX:134186001C>A	ENST00000370775.2	-	1	204	c.138G>T	c.(136-138)caG>caT	p.Q46H	FAM127B_ENST00000520964.1_5'UTR	NM_001078172.1	NP_001071640.1	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	46										breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;0.000127)					AGGAGCTCGTCTGCACGATGA	0.652																																						uc004eyf.2		NaN																	0					0						c.(136-138)CAG>CAT		family with sequence similarity 127, member B							85.0	90.0	88.0					X																	134186001		2133	4224	6357	SO:0001583	missense	26071							g.chrX:134186001C>A	AL117556	CCDS43998.1	Xq26.3	2014-05-16			ENSG00000203950	ENSG00000203950			24514	protein-coding gene	gene with protein product						9403077, 15716091	Standard	NM_001078172		Approved	DKFZP564B147, MAR8A, CXX1b	uc004eyf.3	Q9BWD3	OTTHUMG00000022466	ENST00000370775.2:c.138G>T	X.37:g.134186001C>A	ENSP00000375267:p.Gln46His					FAM127B_uc004eyg.3_Missense_Mutation_p.Q46H	p.Q46H	NM_001078172	NP_001071640	Q9BWD3	F127B_HUMAN			1	221	-	Acute lymphoblastic leukemia(192;0.000127)		46					A2A2V9|Q8TBU2	Missense_Mutation	SNP	ENST00000370775.2	37	c.138G>T	CCDS43998.1	.	.	.	.	.	.	.	.	.	.	c	14.73	2.621233	0.46736	.	.	ENSG00000203950	ENST00000370775	T	0.30981	1.51	2.38	2.38	0.29361	.	0.489617	0.14858	U	0.294287	T	0.51381	0.1671	M	0.79011	2.435	0.27917	N	0.938403	D;D	0.89917	0.988;1.0	D;D	0.78314	0.977;0.991	T	0.34551	-0.9824	10	0.87932	D	0	.	7.511	0.27573	0.0:1.0:0.0:0.0	.	44;46	Q6IPB9;Q9BWD3	.;F127B_HUMAN	H	46	ENSP00000375267:Q46H	ENSP00000375267:Q46H	Q	-	3	2	FAM127B	134013667	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	2.055000	0.41345	1.470000	0.48102	0.292000	0.19580	CAG		0.652	FAM127B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058393.2		NM_001078172		32	59	1	0	2.81731e-10	0.010818	3.0473e-10	32	59		
OPN1LW	5956	broad.mit.edu	37	X	153420214	153420214	+	Splice_Site	SNP	G	G	A	rs139583770		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chrX:153420214G>A	ENST00000369951.4	+	4	804	c.744G>A	c.(742-744)gcG>gcA	p.A248A	OPN1LW_ENST00000463296.1_Intron	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	248					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.A248A(2)		endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCATCCGAGCGGTAAGCCCCC	0.547																																						uc004fjz.3		NaN																	2	Substitution - coding silent(2)		endometrium(2)		0						c.(742-744)GCG>GCA		opsin 1 (cone pigments), long-wave-sensitive		G		1,3816		0,1,1630,555	178.0	132.0	147.0		744	-3.9	1.0	X	dbSNP_134	147	1,6670		0,1,2425,1819	no	coding-synonymous-near-splice	OPN1LW	NM_020061.4		0,2,4055,2374	AA,AG,GG,G		0.015,0.0262,0.0191		248/365	153420214	2,10486	2186	4245	6431	SO:0001630	splice_region_variant	5956				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chrX:153420214G>A	Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"""GPCR / Class A : Opsin receptors"""	9936	protein-coding gene	gene with protein product	"""cone dystrophy 5 (X-linked)"""	300822	"""color blindness, protan"", ""red cone photoreceptor pigment"""	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.744+1G>A	X.37:g.153420214G>A							p.A248A	NM_020061	NP_064445	P04000	OPSR_HUMAN			4	777	+	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		248			Cytoplasmic.			Silent	SNP	ENST00000369951.4	37	c.744G>A	CCDS14742.1																																																																																				0.547	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2		NM_020061	Silent	12	62	0	0	0	0.00245	0	12	62		
ZZZ3	26009	broad.mit.edu	37	1	78098534	78098536	+	In_Frame_Del	DEL	AGT	AGT	-			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:78098534_78098536delAGT	ENST00000370801.3	-	5	979_981	c.504_506delACT	c.(502-507)atactg>atg	p.168_169IL>M	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	168					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						ACAATCATCCAGTATAAGACATC	0.409																																						uc001dhq.2		NaN																	0				ovary(4)|large_intestine(1)	5						c.(502-507)ATACTG>ATG		zinc finger, ZZ-type containing 3																																				SO:0001651	inframe_deletion	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78098534_78098536delAGT	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.504_506delACT	1.37:g.78098534_78098536delAGT	ENSP00000359837:p.Ile168_Leu169delinsMet					ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_In_Frame_Del_p.168_169IL>M|ZZZ3_uc001dhp.2_In_Frame_Del_p.168_169IL>M	p.168_169IL>M	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN			5	980_982	-			168_169					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	In_Frame_Del	DEL	ENST00000370801.3	37	c.504_506delACT	CCDS677.1																																																																																				0.409	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1		NM_015534		14	223	NaN	NaN	NaN	NaN	NaN	14	223	---	---
TXNIP	10628	broad.mit.edu	37	1	145440508	145440509	+	Frame_Shift_Ins	INS	-	-	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:145440508_145440509insT	ENST00000369317.4	+	5	1148_1149	c.814_815insT	c.(814-816)gttfs	p.V272fs	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	272					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CATCCTTCGAGTTGAATATTCC	0.485																																						uc001enn.3		NaN																	0				ovary(2)	2						c.(814-816)GTTfs		thioredoxin interacting protein																																				SO:0001589	frameshift_variant	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145440508_145440509insT	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.816dupT	1.37:g.145440510_145440510dupT	ENSP00000358323:p.Val272fs					NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Frame_Shift_Ins_p.V217fs	p.V272fs	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN			5	1155_1156	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		272					B4E3D3|Q16226|Q6PML0|Q9BXG9	Frame_Shift_Ins	INS	ENST00000369317.4	37	c.814_815insT	CCDS913.1																																																																																				0.485	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1		NM_006472		20	184	NaN	NaN	NaN	NaN	NaN	20	184	---	---
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:72094757delT	ENST00000266673.5	+	6	1587	c.993delT	c.(991-993)ggtfs	p.G331fs		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	331						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433																																						uc001sws.2		NaN																	0					0						c.(991-993)GGTfs		transmembrane protein 19							199.0	184.0	189.0					12																	72094757		2203	4300	6503	SO:0001589	frameshift_variant	55266					integral to membrane		g.chr12:72094757delT	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.993delT	12.37:g.72094757delT	ENSP00000266673:p.Gly331fs					TMEM19_uc009zru.1_RNA	p.G331fs	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	6	1576	+		Breast(359;0.0889)	331			Helical; (Potential).		B2RDL2|Q53FY3|Q9NV41	Frame_Shift_Del	DEL	ENST00000266673.5	37	c.993delT	CCDS9002.1																																																																																				0.433	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1		NM_018279		7	464	NaN	NaN	NaN	NaN	NaN	7	464	---	---
HCAR1	27198	broad.mit.edu	37	12	123214852	123214853	+	Frame_Shift_Ins	INS	-	-	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:123214852_123214853insC	ENST00000436083.2	-	1	537_538	c.34_35insG	c.(34-36)gacfs	p.D12fs	HCAR1_ENST00000356987.2_Frame_Shift_Ins_p.D12fs|HCAR1_ENST00000432564.1_Frame_Shift_Ins_p.D12fs			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	12					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						GGAGATGGTGTCCCCCTCGATG	0.619																																						uc001ucz.2		NaN																	0					0						c.(34-36)GACfs		G protein-coupled receptor 81																																				SO:0001589	frameshift_variant	27198				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:123214852_123214853insC	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.35dupG	12.37:g.123214857_123214857dupC	ENSP00000409980:p.Asp12fs					GPR81_uc001ucw.1_RNA	p.D12fs	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	277_278	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		12			Extracellular (Potential).		B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Frame_Shift_Ins	INS	ENST00000436083.2	37	c.34_35insG	CCDS9236.1																																																																																				0.619	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401415.1				8	53	NaN	NaN	NaN	NaN	NaN	8	53	---	---
CHD2	1106	broad.mit.edu	37	15	93545433	93545434	+	Frame_Shift_Ins	INS	-	-	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr15:93545433_93545434insA	ENST00000394196.4	+	33	5232_5233	c.4164_4165insA	c.(4165-4167)aaafs	p.K1389fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.K1389fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1389					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAAGTCCAATgaaaaaaaaaca	0.337																																						uc002bsp.2		NaN																	0				ovary(1)|skin(1)	2						c.(4162-4167)ATGAAAfs		chromodomain helicase DNA binding protein 2																																				SO:0001589	frameshift_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93545433_93545434insA	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4173dupA	15.37:g.93545442_93545442dupA	ENSP00000377747:p.Lys1389fs					CHD2_uc002bso.1_Frame_Shift_Ins_p.M1388fs	p.M1388fs	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		33	4739_4740	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1388_1389					C6G482|Q96IP5	Frame_Shift_Ins	INS	ENST00000394196.4	37	c.4164_4165insA	CCDS10374.2																																																																																				0.337	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3		NM_001271		7	147	NaN	NaN	NaN	NaN	NaN	7	147	---	---
TBC1D24	57465	broad.mit.edu	37	16	2546657	2546657	+	Frame_Shift_Del	DEL	G	G	-			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr16:2546657delG	ENST00000293970.5	+	2	641	c.508delG	c.(508-510)gacfs	p.D170fs	TBC1D24_ENST00000567020.1_Frame_Shift_Del_p.D170fs|TBC1D24_ENST00000434757.2_Frame_Shift_Del_p.D170fs|RP11-20I23.1_ENST00000564543.1_Frame_Shift_Del_p.D170fs	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	170	Rab-GAP TBC.				neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						GAGGCTGATCGACCAGAGCTT	0.632																																						uc002cql.2		NaN																	0					0						c.(508-510)GACfs		TBC1 domain family, member 24							30.0	34.0	33.0					16																	2546657		2172	4272	6444	SO:0001589	frameshift_variant	57465				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity	g.chr16:2546657delG	AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.508delG	16.37:g.2546657delG	ENSP00000293970:p.Asp170fs					TBC1D24_uc002cqk.2_Frame_Shift_Del_p.D170fs|TBC1D24_uc002cqm.2_Frame_Shift_Del_p.D170fs|TBC1D24_uc010bsm.2_5'Flank	p.D170fs	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN			2	648	+			170			Rab-GAP TBC.		A0JNW3|B9A6M6|Q2KJ08	Frame_Shift_Del	DEL	ENST00000293970.5	37	c.508delG	CCDS55980.1																																																																																				0.632	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1		NM_020705		7	64	NaN	NaN	NaN	NaN	NaN	7	64	---	---
MNT	4335	broad.mit.edu	37	17	2290220	2290220	+	Frame_Shift_Del	DEL	G	G	-			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:2290220delG	ENST00000174618.4	-	6	2129	c.1724delC	c.(1723-1725)ccafs	p.P575fs	MNT_ENST00000575374.1_5'Flank|RP1-59D14.1_ENST00000571775.1_RNA	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	575					cell aging (GO:0007569)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cell cycle (GO:0051726)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		TGTGCTGACTGGGAAGGAGGG	0.667																																						uc002fur.2		NaN																	0				skin(1)	1						c.(1723-1725)CCAfs		MAX binding protein							26.0	21.0	23.0					17																	2290220		2194	4298	6492	SO:0001589	frameshift_variant	4335				multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr17:2290220delG	Y13444	CCDS11018.1	17p13.3	2013-11-15	2013-11-15		ENSG00000070444	ENSG00000070444		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7188	protein-coding gene	gene with protein product	"""myc antagonist"", ""Max-interacting protein"""	603039	"""MAX binding protein"", ""MNT, MAX dimerization protein"""			9598315	Standard	NM_020310		Approved	ROX, MXD6, MAD6, bHLHd3	uc002fur.3	Q99583	OTTHUMG00000090603	ENST00000174618.4:c.1724delC	17.37:g.2290220delG	ENSP00000174618:p.Pro575fs						p.P575fs	NM_020310	NP_064706	Q99583	MNT_HUMAN		Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)	6	1976	-			575					A8K6D1|D3DTI7|Q1ED38	Frame_Shift_Del	DEL	ENST00000174618.4	37	c.1724delC	CCDS11018.1																																																																																				0.667	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207158.1		NM_020310		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
GPR75	10936	broad.mit.edu	37	2	54080472	54080472	+	Frame_Shift_Del	DEL	G	G	-			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:54080472delG	ENST00000394705.2	-	2	1692	c.1422delC	c.(1420-1422)cccfs	p.P474fs	GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	474					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GAGTGTTGATGGGGGTCGAGC	0.493																																						uc002rxo.3		NaN																	0				ovary(1)|skin(1)	2						c.(1420-1422)CCCfs		G protein-coupled receptor 75							203.0	195.0	198.0					2																	54080472		2203	4300	6503	SO:0001589	frameshift_variant	10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54080472delG	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.1422delC	2.37:g.54080472delG	ENSP00000378195:p.Pro474fs					ASB3_uc002rxi.3_Intron	p.P474fs	NM_006794	NP_006785	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	1693	-			474			Cytoplasmic (Potential).		B2RC02|Q6NWR2	Frame_Shift_Del	DEL	ENST00000394705.2	37	c.1422delC	CCDS1849.1																																																																																				0.493	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2				19	312	NaN	NaN	NaN	NaN	NaN	19	312	---	---
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																						uc003erv.2		NaN																	0					0						c.(1621-1626)GATGAT>GAT		debranching enzyme homolog 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del					DBR1_uc003eru.2_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.2_In_Frame_Del_p.309_310DD>D	p.541_542DD>D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN			8	1759_1761	-			541_542					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1				7	110	NaN	NaN	NaN	NaN	NaN	7	110	---	---
ARHGEF6	9459	broad.mit.edu	37	X	135814312	135814312	+	Frame_Shift_Del	DEL	T	T	-			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chrX:135814312delT	ENST00000250617.6	-	6	1886	c.681delA	c.(679-681)aaafs	p.K227fs	ARHGEF6_ENST00000535227.1_Frame_Shift_Del_p.K100fs|ARHGEF6_ENST00000370622.1_Frame_Shift_Del_p.K73fs|ARHGEF6_ENST00000370620.1_Frame_Shift_Del_p.K73fs	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	227					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CTTTGACGGCTTTTGGGGAGA	0.328																																						uc004fab.2		NaN																	0					0						c.(679-681)AAAfs		Rac/Cdc42 guanine nucleotide exchange factor 6							40.0	35.0	37.0					X																	135814312		2203	4300	6503	SO:0001589	frameshift_variant	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135814312delT	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.681delA	X.37:g.135814312delT	ENSP00000250617:p.Lys227fs					ARHGEF6_uc011mwd.1_Frame_Shift_Del_p.K100fs|ARHGEF6_uc011mwe.1_Frame_Shift_Del_p.K73fs	p.K227fs	NM_004840	NP_004831	Q15052	ARHG6_HUMAN			6	1143	-	Acute lymphoblastic leukemia(192;0.000127)		227					A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Frame_Shift_Del	DEL	ENST00000250617.6	37	c.681delA	CCDS14660.1																																																																																				0.328	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2		NM_004840		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
